Yamamoto-Shimojima keiko 下島圭子

… Alternative Names

Yamamoto Keiko 山本圭子

下島圭子

SHIMOJIMA Keiko 下島圭子

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Researcher Number	30578935
Other IDs
Affiliation (Current)	2022: 東京女子医科大学, 医学部, 助教
Affiliation (based on the past Project Information) *help	2020: 東京女子医科大学, 医学部, 助教 2013 – 2019: 東京女子医科大学, 医学部, 特任助教 2010 – 2012: 東京女子医科大学, 医学部, 助教
Review Section/Research Field	Principal Investigator Pediatrics / Neurochemistry/Neuropharmacology Except Principal Investigator Laboratory animal science / Pediatrics
Keywords	Principal Investigator iPS細胞 / ニューロン / シナプス / ダウン症候群 / 神経細胞機能解析 / 発達障害 / 神経細胞遊走障害 / ｉＰＳ細胞 / 神経発達障害 / 疾患iPS細胞 … More / 神経分化誘導 / アストロサイト / スパイン / 共培養 / 活動電位 / Caイメージング … More Except Principal Investigator ゲノム編集 / Experimental Animals / ES cells / iPS cells / naive / germ cells / chimera / iPS細胞 / ナイーブ変換 / キメラ / 難治性疾患 / ES細胞 / ウサギ / カニクイザル / ヒトiPS細胞 / シナプス機能 / 発達障害 / 遺伝子ノックダウン Less

Elucidation of the pathophysiology of neurodevelopmental disorders by evaluating nerve cell network functionPrincipal Investigator
- Principal Investigator
  
  Yamamoto Keiko
- Project Period (FY)
  2017 – 2020
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
  Neurochemistry/Neuropharmacology
- Research Institution
  Tokyo Women's Medical University
Establishment of heredital desease models using iPS cells and genome editing
- Principal Investigator
  
  Honda Arata
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Laboratory animal science
- Research Institution
  Kyoto University
  University of Miyazaki
Elucidation of synaptic dysfunctions in patients with developmental disorder
- Principal Investigator
  
  Yamamoto Toshiyuki
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Tokyo Women's Medical University
elucidation of a mechanism of developmental disorder caused genome copy number aberrationPrincipal Investigator
- Principal Investigator
  
  Shimojima Keiko
- Project Period (FY)
  2012 – 2016
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tokyo Women's Medical University
Gene expression analysis for neuronal cells differenciated from iPS cells generated from patients with Down syndromePrincipal Investigator
- Principal Investigator
  
  SHIMOJIMA Keiko
- Project Period (FY)
  2010 – 2011
- Research Category
  
  Grant-in-Aid for Research Activity Start-up
- Research Field
  
  Pediatrics
- Research Institution
  Tokyo Women's Medical University

All 2021 2020 2019 2018 2017 2016 2015 2014 2013 2012 2011 2010 Other

All Journal Article Presentation Book

[Book] 新遺伝医学やさしい系統講義19講　第5章　染色体の異常を調べる2019
- Author(s)
  山本圭子（監修：福嶋義光、編集：櫻井晃洋・古庄知己）
- Total Pages
  340
- Publisher
  メディカル・サイエンス・インターナショナル
- ISBN
  9784815701666
- Data Source
  KAKENHI-PROJECT-17K18133
[Book] 症例でわかる小児神経疾患の遺伝学的アプローチ2019
- Author(s)
  山本圭子（監修：山本俊至）
- Total Pages
  200
- Publisher
  診断と治療社
- ISBN
  9784787824370
- Data Source
  KAKENHI-PROJECT-17K18133
[Book] これならわかる！小児科診療に活かせる遺伝学的検査・診断・遺伝カウンセリングの上手な進めかた2016
- Author(s)
  奥山虎之・山本俊至（編集）
- Total Pages
  217
- Publisher
  診断と治療社
- Data Source
  KAKENHI-PROJECT-24791090
[Book] iPS細胞の安全・高品質な作成技術2016
- Author(s)
  下島圭子・山本俊至
- Total Pages
  494
- Publisher
  技術情報協会
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease2021
- Author(s)
  Yamamoto-Shimojima Keiko、Akagawa Hiroyuki、Yanagi Kumiko、Kaname Tadashi、Okamoto Nobuhiko、Yamamoto Toshiyuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 8 Pages: 14-14
- DOI
  10.1038/s41439-021-00144-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17K18133
[Journal Article] Novel LAMA2 variants identified in a patient with white matter abnormalities2020
- Author(s)
  Yamamoto-Shimojima Keiko、Ono Hiroaki、Imaizumi Taichi、Yamamoto Toshiyuki
- Journal Title
  
  Human Genome Variation
  
  Volume: 7 Pages: 16-16
- DOI
  10.1038/s41439-020-0103-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-17K18133
[Journal Article] Establishment of a simple and rapid method to detect MECP2 duplications using digital polymerase chain reaction2020
- Author(s)
 Yanagishita T, Yamamoto-Shimojima K, Nakano S, Sasaki T, Shigematsu H, Imai K, Yamamoto T.
- Journal Title
 
 Congenital Anomalies
 
 Volume: 印刷中 Issue: 1 Pages: 10-14
- DOI
 10.1111/cga.12325
- NAID
 210000012751
- ISSN
 0914-3505, 1741-4520
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803
[Journal Article] Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome2020
- Author(s)
  Imaizumi Taichi、Yamamoto-Shimojima Keiko、Yanagishita Tomoe、Ondo Yumiko、Nishi Eriko、Okamoto Nobuhiko、Yamamoto Toshiyuki
- Journal Title
  
  Human Genetics
  
  Volume: 139 Pages: 1555-1563
- DOI
  10.1007/s00439-020-02196-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133
[Journal Article] Analyses of breakpoint junctions of complex genomic rearrangements comprising multiple consecutive microdeletions by nanopore sequencing2020
- Author(s)
  Imaizumi Taichi、Yamamoto-Shimojima Keiko、Yanagishita Tomoe、Ondo Yumiko、Yamamoto Toshiyuki
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 65 Pages: 735-741
- DOI
  10.1038/s10038-020-0762-6
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133
[Journal Article] Breakpoint junction analysis for complex genomic rearrangements with the caldera volcano‐like pattern2020
- Author(s)
  Yanagishita Tomoe、Imaizumi Taichi、Yamamoto‐Shimojima Keiko、Yano Tamami、Okamoto Nobuhiko、Nagata Satoru、Yamamoto Toshiyuki
- Journal Title
  
  Human Mutation
  
  Volume: 41 Pages: 2119-2127
- DOI
  10.1002/humu.24108
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133
[Journal Article] Novel COL4A1 mutations identified in infants with congenital hemolytic anemia in association with brain malformations2020
- Author(s)
  Ogura Hiromi、Ohga Shouichi、Aoki Takako、Utsugisawa Taiju、Takahashi Hidehiro、Iwai Asayuki、Watanabe Kenichiro、Okuno Yusuke、Yoshida Kenichi、Ogawa Seishi、Miyano Satoru、Kojima Seiji、Yamamoto Toshiyuki、Yamamoto-Shimojima Keiko、Kanno Hitoshi
- Journal Title
  
  Human Genome Variation
  
  Volume: 7 Pages: 42-42
- DOI
  10.1038/s41439-020-00130-w
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-19H05656, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-17K18133
[Journal Article] Primrose syndrome associated with unclassified immunodeficiency and a novel ZBTB20 mutation2020
- Author(s)
  Yamamoto-Shimojima K, Imaizumi T, Akagawa H, Kanno H, Yamamoto T.
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 182 Pages: 521-526
- DOI
  10.1002/ajmg.a.61432
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-16K10041
[Journal Article] Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.2019
- Author(s)
  Yamamoto-Shimojima Keiko、Imaizumi Taichi、Aoki Yusuke、Inoue Ken、Kaname Tadashi、Okuno Yusuke、Muramatsu Hideki、Kato Kohji、Yamamoto Toshiyuki
- Journal Title
  
  J Hum Genet
  
  Volume: 未定 Pages: 665-671
- DOI
  10.1038/s10038-019-0600-x
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-16H05361, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07863, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Phenotypic features of 1q41q42 microdeletion including WDR26 and FBXO28 are clinically recognizable: The first case from Japan.2019
- Author(s)
  Yanagishita T, Yamamoto-Shimojima K, Nakano S, Sasaki T, Shigematsu H, Imai K, Yamamoto T.
- Journal Title
  
  Brain and Development
  
  Volume: 41 Pages: 452-455
- DOI
  10.1016/j.braindev.2018.12.006
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.2019
- Author(s)
  Yamamoto Toshiyuki、Imaizumi Taichi、Yamamoto-Shimojima Keiko、Kurahashi Hirokazuら,
- Journal Title
  
  Brain Dev.
  
  Volume: 41 Pages: 776-782
- DOI
  10.1016/j.braindev.2019.05.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10086, KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K07890, KAKENHI-PROJECT-19K10613, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome.2019
- Author(s)
  Imaizumi T, Mogami Y, Okamoto N, Yamamoto-Shimojima K, Yamamoto T.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 印刷中 Issue: 6 Pages: 193-194
- DOI
  10.1111/cga.12322
- NAID
  50014240944
- ISSN
  0914-3505, 1741-4520
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-18K07803
[Journal Article] Advantages of ddPCR in detection of PLP1 duplications2019
- Author(s)
 Imaizumi T, Yamamoto-Shimojima K, Yamamoro T.
- Journal Title
 
 IRDR
 
 Volume: 8 Issue: 3 Pages: 198-202
- DOI
 10.5582/irdr.2019.01067
- NAID
 130007709095
- ISSN
 2186-361X, 2186-3644
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Compound Heterozygous ALDH7A1 Mutation Causes the Hemi-Allelic Expression in a Patient with Pyridoxine-Dependent Epilepsy2019
- Author(s)
 Yanagishita T, Yamamoto-Shimojima K, Koike T, Nasu H, Takahashi Y, Akiyama T, Nagata S, Yamamoto T.
- Journal Title
 
 J.TWMU
 
 Volume: 3 Issue: 0 Pages: 73-77
- DOI
 10.24488/twmuj.2019005
- NAID
 130007770823
- ISSN
 2432-6186
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Three Japanese patients with 3p13 microdeletions involving FOXP1.2019
- Author(s)
  Yamamoto-Shimojima K, Okamoto N, Matsumura W, Okazaki T, Yamamoto T.
- Journal Title
  
  Brain and Development
  
  Volume: 41(3) Pages: 257-262
- DOI
  10.1016/j.braindev.2018.10.016
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Natural histories of patients with Wolf‐Hirschhorn syndrome derived from variable chromosomal abnormalities2019
- Author(s)
  Yamamoto-Shimojima K, Kouwaki M, Kawashima Y, Itomi K, Momosaki K, Ozasa S, Okamoto N, Yokochi K, Yamamoto T.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 59 Issue: 5 Pages: 169-173
- DOI
  10.1111/cga.12318
- NAID
  210000012744
- ISSN
  0914-3505, 1741-4520
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.2018
- Author(s)
  Shimada Shino、Oguni Hirokazu、Otani Yui、Nishikawa Aiko、Ito Susumu、Eto Kaoru、Nakazawa Tomoyuki、Yamamoto-Shimojima Keiko、Takanashi Jun-ichi、Nagata Satoru、Yamamoto Toshiyuki
- Journal Title
  
  Brain Dev
  
  Volume: 40 Pages: 813-818
- DOI
  10.1016/j.braindev.2018.05.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-16K10329
[Journal Article] Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders - leukodystrophy and autism.2018
- Author(s)
  Yamamoto Toshiyuki、Yamamoto-Shimojima Keiko、Ueda Yuki、Imai Katsumi、Takahashi Yukitoshi、Imagawa Eri、Miyake Noriko、Matsumoto Naomichi
- Journal Title
  
  Hum Genome Var.
  
  Volume: 5 Pages: 18-18
- DOI
  10.1038/s41439-018-0020-z
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-17J40108
[Journal Article] Somatic mosaic deletions involving SCN1A cause Dravet syndrome.2018
- Author(s)
  Nakayama Tojo、Ishii Atsushi、Yoshida Takeshi、Nasu Hirosato、Shimojima Keiko、Yamamoto Toshiyuki、Kure Shigeo、Hirose Shinichi
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 176 Pages: 657-62
- DOI
  10.1002/ajmg.a.38596
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-16K15532
[Journal Article] Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome2018
- Author(s)
  Yamamoto T, Lu Y, Nakamura R, Shimojima K, Kira R.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 58(4) Issue: 4 Pages: 143-144
- DOI
  10.1111/cga.12251
- ISSN
  0914-3505
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Identification of a rare homozygous SZT2 variant due to uniparental disomy in a patient with a neurodevelopmental disorder2018
- Author(s)
 Imaizumi Taichi、Kumakura Akira、Yamamoto-Shimojima Keiko、Ondo Yumko
- Journal Title
 
 IRDR
 
 Volume: 7 Issue: 4 Pages: 245-250
- DOI
 10.5582/irdr.2018.01117
- NAID
 130007533901
- ISSN
 2186-361X, 2186-3644
- Language
 English
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Infantile spasms related to a 5q31.2-q31.3 microdeletion including PURA.2018
- Author(s)
  Shimojima Keiko、Okamoto Nobuhiko、Ohmura Kayo、Nagase Hiroaki、Yamamoto Toshiyuki
- Journal Title
  
  Hum Genome Var.
  
  Volume: 5 Pages: 18007-18007
- DOI
  10.1038/hgv.2018.7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-18K08918, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome.2018
- Author(s)
  Shimada Shino、Hirasawa Kyoko、Takeshita Akiko、Nakatsukasa Hidetsugu、Yamamoto-Shimojima Keiko、Imaizumi Taichi、Nagata Satoru、Yamamoto Toshiyuki
- Journal Title
  
  American Journal of Medical Genetics Part A
  
  Volume: 176 Pages: 2803-2807
- DOI
  10.1002/ajmg.a.40500
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-18K07803, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation.2017
- Author(s)
  Shimojima K, Higashiguchi T, Kishimoto K, Miyatake S, Miyake N, Takanashi J, Matsumoto N, Yamamoto T
- Journal Title
  
  Hum Genome Var
  
  Volume: 4 Pages: 17051-17051
- DOI
  10.1038/hgv.2017.51
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K10329, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17H01539, KAKENHI-PROJECT-16H05357, KAKENHI-PROJECT-17J40108
[Journal Article] Familial 9q33q34 microduplication in siblings with developmental disorders and macrocephaly.2017
- Author(s)
  Shimojima K, Okamoto N, Goel H, Ondo Y, Yamamoto T.
- Journal Title
  
  Europian Journal of Medical Genetics
  
  Volume: 60(12) Pages: 650-654
- DOI
  10.1016/j.ejmg.2017.08.017
- Peer Reviewed / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Aspartylglucosaminuria caused by a novel homozygous mutation in the AGA gene was identified by an exome-first approach in a patient from Japan2017
- Author(s)
  Yamamoto T, Shimojima K, Matsufuji M, Mashima R, Sakai E, Okuyama T.
- Journal Title
  
  Brain and Development
  
  Volume: 39(5) Pages: 422-425
- DOI
  10.1016/j.braindev.2016.12.004
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-16K08958, KAKENHI-PROJECT-17J40108
[Journal Article] A novel PLP1 mutation F240L identified in a patient with connatal type Pelizaeus-Merzbacher disease.2017
- Author(s)
  Lu Y, Shimojima K, Sakuma T, Nakaoka S, Yamamoto T.
- Journal Title
  
  Human Genome Variation
  
  Volume: Jan 5;4: Pages: 16044-16044
- DOI
  10.1038/hgv.2016.44
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-17J40108
[Journal Article] Neurological manifestations of 2q31 microdeletion syndrome2017
- Author(s)
  Okamoto N, Kimura S, Shimojima K, Yamamoto T.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 印刷中 Issue: 6 Pages: 19-200
- DOI
  10.1111/cga.12212
- NAID
  130008142300
- ISSN
  0914-3505
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] A 15q14 microdeletion involving MEIS2 identified in a patient with autism spectrum disorder.2017
- Author(s)
  Shimojima K, Ondo Y, Okamoto N, Yamamoto T.
- Journal Title
  
  Human Genome Variation
  
  Volume: Jul 20;4 Pages: 17029-17029
- DOI
  10.1038/hgv.2017.29
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: literature review and description of an additional patient2017
- Author(s)
  Shimojima K, Okamoto N, Yamamoto T
- Journal Title
  
  Congenit Anom
  
  Volume: in press
- NAID
  130008142363
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K09631
[Journal Article] A novel TUBB4A mutation G96R identified in a patient with hypomyelinating leukodystrophy onset beyond adolescence.2017
- Author(s)
  Lu Y, Ondo Y, Shimojima K, Osaka H, Yamamoto T.
- Journal Title
  
  Human Genome Variation
  
  Volume: Aug 3;4 Pages: 17035-17035
- DOI
  10.1038/hgv.2017.35
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Mandibulofacial dysostosis with microcephaly: A case presenting with seizures2017
- Author(s)
  Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K.
- Journal Title
  
  Brain Dev
  
  Volume: 39(2) Pages: 177-181
- DOI
  10.1016/j.braindev.2016.08.008
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-15K09631
[Journal Article] A novel PGK1 mutation associated with neurological dysfunction and the absence of episodes of hemolytic anemia or myoglobinuria.2017
- Author(s)
  Matsumaru S, Oguni H, Ogura H, Shimojima K, Nagata S, Kanno H, Yamamoto T
- Journal Title
  
  Intractable Rare Disease Research
  
  Volume: 6 Pages: 132-136
- DOI
  10.5582/irdr.2017.01020
- NAID
  130005695959
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K10041, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Possible genes responsible for developmental delay observed in patients with rare 2q23q24 microdeletion syndrome: Literature review and description of an additional patient2017
- Author(s)
  Shimojima K, Okamoto N, Yamamoto T.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 印刷中 Issue: 4 Pages: 109-113
- DOI
  10.1111/cga.12205
- NAID
  130008142363
- ISSN
  0914-3505
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Discrimination of Stem Cell Status after Subjecting Cynomolgus Monkey Pluripotent Stem Cells to Naive Conversion.2017
- Author(s)
  Honda A, Kawano Y, Izu H, Choijookhuu N, Honsho K, Nakamura T, Yabuta Y, Yamamoto T, Takashima Y, Hirose M, Sankai T, Hishikawa Y, Ogura A, Saitou M
- Journal Title
  
  Sci Rep.
  
  Volume: 7 Pages: 45285-45285
- DOI
  10.1038/srep45285
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-25112009, KAKENHI-PROJECT-16H02465, KAKENHI-PROJECT-16K08471, KAKENHI-PROJECT-16K15489, KAKENHI-ORGANIZER-25112001, KAKENHI-PROJECT-15H04286, KAKENHI-PROJECT-15K14887
[Journal Article] A 7q31.33q32.1 microdeletion including LRRC4 and GRM8 is associated with severe intellectual disability and characteristics of autism.2017
- Author(s)
  Sangu N, Shimojima K, Takahashi Y, Ohashi T, Tohyama J, Yamamoto T.
- Journal Title
  
  Human Genome Variation
  
  Volume: Feb 9;4 Pages: 17001-17001
- DOI
  10.1038/hgv.2017.1
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-17J40108
[Journal Article] A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly2017
- Author(s)
 Seto T, Hamazaki T, Nishigaki S, Kudo S, Shintaku H, Ondo Y, Shimojima K, Yamamoto T.
- Journal Title
 
 IRDR
 
 Volume: Aug;6(3) Issue: 3 Pages: 177-182
- DOI
 10.5582/irdr.2017.01031
- NAID
 130006078836
- ISSN
 2186-361X, 2186-3644
- Language
 English
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
 KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-26461550
[Journal Article] MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism.2017
- Author(s)
  Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N.
- Journal Title
  
  American Journal of Medical Genetics part A
  
  Volume: 印刷中 Pages: 1264-1269
- DOI
  10.1002/ajmg.a.38168
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] Calreticulin mutant mice develop essential thrombocythemia that is ameliorated by the JAK inhibitor ruxolitinib.2017
- Author(s)
  Kotaro Shide, Takuro Kameda, Takumi Yamaji, Masaaki Sekine, Naoki Inada, Ayako Kamiunten, Keiichi Akizuki, Kenichi Nakamura, Akira Kitanaka, Arata Honda, Akira Sawaguchi, Hiroo Abe, Tadashi Miike, Hisayoshi Iwakiri, Yoshihiro Tahara, Mitsue Sueta, Satoru Hasuike, Shojiro Yamamoto, Kenji Nagata, and Kazuya Shimoda
- Journal Title
  
  Leukemia.
  
  Volume: 31 Pages: 1136-1144
- DOI
  10.1038/leu.2016.308
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15H04286, KAKENHI-PROJECT-26461408, KAKENHI-PROJECT-15K19554, KAKENHI-PROJECT-15K09479, KAKENHI-PROJECT-15K09507, KAKENHI-PROJECT-16K09852, KAKENHI-PROJECT-15K09480
[Journal Article] A 10q21.3q22.2 microdeletion identified in a patient with severe developmental delay and multiple congenital anomalies including congenital heart defects2017
- Author(s)
  Shimojima K, Okamoto N, Yamamoto T.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 印刷中 Issue: 1 Pages: 36-38
- DOI
  10.1111/cga.12221
- ISSN
  0914-3505
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] An Xq22.1q22.2 nullisomy in a male patient with severe neurological impairment2017
- Author(s)
  Shirai K, Higashi Y, Shimojima K, Yamamoto T.
- Journal Title
  
  American Journal of Medical Genetics part A
  
  Volume: 173(4) Pages: 1124-1127
- DOI
  10.1002/ajmg.a.38134
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities.2017
- Author(s)
  Seto T, Yamamoto T, Shimojima K, Shintaku H.
- Journal Title
  
  Hum Genome Var
  
  Volume: Mar 16;4 Pages: 17007-17007
- DOI
  10.1038/hgv.2017.7
- Peer Reviewed / Acknowledgement Compliant / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-26461550, KAKENHI-PROJECT-17J40108
[Journal Article] Mutations in NSD1 and NFIX in Three Patients with Clinical Features of Sotos Syndrome and Malan Syndrome.2017
- Author(s)
  Lu Y, Chong PF, Kira R, Seto T, Ondo Y, Shimojima K, Yamamoto T.
- Journal Title
  
  J Pediatr Genet.
  
  Volume: Dec;6(4) Pages: 234-237
- DOI
  10.1055/s-0037-1603194
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108, KAKENHI-PROJECT-26461550
[Journal Article] Characteristics of rare and private deletions identified in phenotypically normal individuals.2017
- Author(s)
  Shimojima K, Yamamoto T
- Journal Title
  
  Human Genome Variation
  
  Volume: 14;4 Pages: 17037-17037
- DOI
  10.1038/hgv.2017.37
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K18133, KAKENHI-PROJECT-17J40108
[Journal Article] 7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.2016
- Author(s)
  Shimojima K, Narai S, Togawa M, Doumoto T, Sangu N, Vanakker OM, de Paepe A, Edwards M, Whitehall J, Brescianini S, Petit F, Andrieux J, Yamamoto T.
- Journal Title
  
  Eur J Med Genet.
  
  Volume: 59(10) Pages: 502-516
- DOI
  10.1016/j.ejmg.2016.09.008
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.2016
- Author(s)
  Yamamoto T, Shimojima K, Yano T, Ueda Y, Takayama R, Ikeda H, Imai K.
- Journal Title
  
  Brain Dev
  
  Volume: 38 Pages: 280-284
- DOI
  10.1016/j.braindev.2015.09.004
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-24791090
[Journal Article] White matter abnormalities in an adult patient with L-2-hydroxyglutaric aciduria.2016
- Author(s)
  Yamamoto T, Yoshioka S, Tsurusaki Y, Shino S, Shimojima K, Shigematsu Y, Takeuchi Y, Matsumoto N.
- Journal Title
  
  Brain Dev
  
  Volume: 38(1) Pages: 142-144
- DOI
  10.1016/j.braindev.2015.04.012
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-24791090
[Journal Article] Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.2016
- Author(s)
  Watanabe S, Shimizu K, Ohashi H, Kosaki R, Okamoto N, Shimojima K, Yamamoto T, Chinen Y, Mizuno S, Dowa Y, Shiomi N, Toda Y, Tashiro K, Shichijo K, Minatozaki K, Aso S, Minagawa K, Hiraki Y, Shimokawa O, Matsumoto T, Fukuda M, Moriuchi H, Yoshiura K, Kondoh T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 170A Pages: 908-917
- DOI
  10.1002/ajmg.a.37496
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-16H05159
[Journal Article] Concurrent occurrence of an inherited 16p13.11 microduplication and a de novo 19p13.3 microdeletion involving MAP2K2 in a patient with developmental delay, distinctive facial features, and lambdoid synostosis2016
- Author(s)
  Shimojima K, Ondo Y, Matsufuji M, Sano N, Tsuru H, Oyoshi T, Higa N, Tokimura H, Arita K, Yamamoto T.
- Journal Title
  
  Eur J Med Genet
  
  Volume: 59(11) Pages: 559-563
- DOI
  10.1016/j.ejmg.2016.10.006
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-15K09631
[Journal Article] The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations.2016
- Author(s)
  Hamatani M, Jingami N, Tsurusaki Y, Shimada S, Shimojima K, Asada-Utsugi M, Yoshinaga K, Uemura N, Yamashita H, Uemura K, Takahashi R, Matsumoto N, Yamamoto T
- Journal Title
  
  J Hum Genet.
  
  Volume: 61 Pages: 899-902
- DOI
  10.1038/jhg.2016.64
- NAID
  120005868491
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118007, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-24791090
[Journal Article] Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson-Golabi-Behmel syndrome.2016
- Author(s)
  Shimojima K, Ondo Y, Nishi E, Mizuno S, Ito M, Ioi A, Shimizu M, Sato M, Inoue M, Okamoto N, Yamamoto T.
- Journal Title
  
  Hum Genome Var.
  
  Volume: Oct 13;3 Pages: 16033-16033
- DOI
  10.1038/hgv.2016.33
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome2016
- Author(s)
  Oka M, Shimojima K, Yamamoto T, Hanaoka Y, Sato S, Yasuhara T, Yoshinaga H, Kobayashi K.
- Journal Title
  
  Clinical Genetics
  
  Volume: 印刷中 Pages: 739-743
- DOI
  10.1111/cge.12752
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-ORGANIZER-15H05871, KAKENHI-PLANNED-15H05874, KAKENHI-PROJECT-16K10722, KAKENHI-INTERNATIONAL-15K21731
[Journal Article] Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome2016
- Author(s)
 Shimojima K, Maruyama K, Kikuchi M, Imai A, Inoue K, Yamamoto T.
- Journal Title
 
 IRDR
 
 Volume: 5（3） Issue: 3 Pages: 214-217
- DOI
 10.5582/irdr.2016.01051
- NAID
 130005410394
- ISSN
 2186-361X, 2186-3644
- Language
 English
- Peer Reviewed / Acknowledgement Compliant
- Data Source
 KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-16H05361
[Journal Article] Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novelde novomutation ofEFNB12016
- Author(s)
 Yamamoto T, Igarashi N, Shimojima K, Sangu N, Sakamoto Y, Shimoji K, Niijima S.
- Journal Title
 
 Congenital Anomalies
 
 Volume: 56 Issue: 2 Pages: 91-93
- DOI
 10.1111/cga.12123
- NAID
 130008079219
- ISSN
 0914-3505
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-24791090
[Journal Article] A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia.2016
- Author(s)
  Shimojima K, Okamoto N, Yamamoto T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 170A Pages: 1076-1079
- DOI
  10.1002/ajmg.a.37545
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-24791090
[Journal Article] Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.2015
- Author(s)
  Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Hiraki Y, Minami K, Watanabe K, Miura K, Chiyonobu T, Imai K, Maegaki Y, Nagata S, Kosaki K, Yamamoto T, et al.
- Journal Title
  
  Brain Dev
  
  Volume: 37 Pages: 515-526
- DOI
  10.1016/j.braindev.2014.08.002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Single nucleotide variations in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.2015
- Author(s)
  Yamamoto T, Shimojima K, Sangu N, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A.
- Journal Title
  
  PLoS One.
  
  Volume: 10(3)
- DOI
  10.1371/journal.pone.0118946
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-24249060, KAKENHI-PUBLICLY-25129708, KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-26740025, KAKENHI-PROJECT-15H02548, KAKENHI-PROJECT-25670481
[Journal Article] CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly.2015
- Author(s)
  Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, Yamamoto T.
- Journal Title
  
  Genomics
  
  Volume: 106 Pages: 196-203
- DOI
  10.1016/j.ygeno.2015.07.001
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.2015
- Author(s)
  Shimada S, Shimojima K, Sangu N, Hoshino A, Hachiya Y, Ohto T, Hashi Y, Nishida K, Mitani M, Kinjo S, Tsurusaki Y, Matsumoto N, Morimoto M, Yamamoto T.
- Journal Title
  
  Brain Dev
  
  Volume: 37(10) Pages: 960-966
- DOI
  10.1016/j.braindev.2015.03.003
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-24791090
[Journal Article] Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.2015
- Author(s)
  Yamamoto T, Shimojima K, Shibata T, Akiyama M, Oka M, Akiyama T, Yoshinaga H, Kobayashi K.
- Journal Title
  
  Human Genome Variation
  
  Volume: 2 Pages: 15048-15048
- DOI
  10.1038/hgv.2015.48
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-24791090
[Journal Article] Holoprosencephaly with cerebellar vermis hypoplasia in 13q deletion syndrome: Critical region for cerebellar dysgenesis within 13q32.2q34.2015
- Author(s)
  Mimaki M, Shiihara T, Watanabe M, Hirakata K, Sakazume S, Ishiguro A, Shimojima K, Yamamoto T, Oka A, Mizuguchi M.
- Journal Title
  
  Brain Dev
  
  Volume: 37 Pages: 714-718
- DOI
  10.1016/j.braindev.2014.10.009
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Characteristics of patients with benign partial epilepsy in infancy without PRRT2 mutations.2015
- Author(s)
  Sangu N, Shimojima K, Okumura A, Ando T, Yamamoto T.
- Journal Title
  
  Epilepsy Res
  
  Volume: 118 Pages: 10-13
- DOI
  10.1016/j.eplepsyres.2015.09.010
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-24791090
[Journal Article] A denovomicrodeletioninvolving PAFAH1B (LIS1) relatedtolissencephalyphenotype.2015
- Author(s)
  Shimojima K, Okumura A, Yamamoto T.
- Journal Title
  
  Data in Brief
  
  Volume: 118 Pages: 488-491
- DOI
  10.1016/j.dib.2015.07.017
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.2015
- Author(s)
  Yamamoto T, Shimada S, Shimojima K, Sangu N, Ninomiya S, Kubota M.
- Journal Title
  
  Eur J Med Genet
  
  Volume: 58 Pages: 492-495
- DOI
  10.1016/j.ejmg.2015.06.008
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Recurrent occurrences of CDKL5 mutations in patients with epileptic encephalopathy.2015
- Author(s)
  Yamamoto T, Shimojima K, Kimura N, Mogami Y, Usui D, Takayama R, Ikeda H, Imai K.
- Journal Title
  
  Human Genome Variation
  
  Volume: 2 Pages: 15042-15042
- DOI
  10.1038/hgv.2015.42
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-15K09631, KAKENHI-PROJECT-24791090
[Journal Article] An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation.2015
- Author(s)
  Shimojima K, Okamoto N, Tamasaki A, Sangu N, Shimada S, Yamamoto T.
- Journal Title
  
  Am J Med Genet A
  
  Volume: 167A Pages: 724-730
- DOI
  10.1002/ajmg.a.36959
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Characteristics of 2p15-p16.1 microdeletion syndrome: Review and description of two additional patients2015
- Author(s)
  Shimojima K, Okamoto N, Yamamoto T.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 55 Issue: 3 Pages: 125-132
- DOI
  10.1111/cga.12112
- ISSN
  0914-3505
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Novel compound heterozygous LIAS mutations cause glycine encephalopathy.2015
- Author(s)
  Tsurusaki Y, Tanaka R, Shimada S, Shimojima K, Shiina M, Nakashima M, Saitsu H, Miyake N, Ogata K, Yamamoto T, Matsumoto N
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 60(10) Pages: 631-635
- DOI
  10.1038/jhg.2015.72
- NAID
  40020621475
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26330331, KAKENHI-PROJECT-15K19660, KAKENHI-PROJECT-24791090, KAKENHI-ORGANIZER-24118001, KAKENHI-PLANNED-24118005, KAKENHI-PROJECT-25293235
[Journal Article] A novel MED12 mutation associated with non-specific X-linked intellectual disability.2015
- Author(s)
  Yamamoto T, Shimojima K.
- Journal Title
  
  Human Genome Variation
  
  Volume: 2 Pages: 15018-15018
- DOI
  10.1038/hgv.2015.18
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease.2015
- Author(s)
  Shimojima K, Okumura A, Ikeno M, Nishimura A, Saito A, Saitsu H, Matsumoto N, Yamamoto T.
- Journal Title
  
  Brain Dev
  
  Volume: 37 Pages: 281-285
- DOI
  10.1016/j.braindev.2014.05.004
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PROJECT-26461551, KAKENHI-PROJECT-24791090
[Journal Article] Growth patterns of patients with 1p36 deletion syndrome2014
- Author(s)
  Sangu N, Shimojima K, Shimada S, Ando T, Yamamoto T.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 54(2) Issue: 2 Pages: 82-86
- DOI
  10.1111/cga.12029
- ISSN
  0914-3505
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.2014
- Author(s)
  Kobayashi S, Onuma A, Inui T, Wakusawa K, Tanaka S, Shimojima K, Yamamoto T, Haginoya K.
- Journal Title
  
  Pediatr Neurol.
  
  Volume: 51(3) Pages: 414-416
- DOI
  10.1016/j.pediatrneurol.2014.05.004
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] 3p Interstitial Deletion Including PRICKLE2 in Identical Twins With Autistic Features.2014
- Author(s)
  Okumura A, Yamamoto T, Miyajima M, Shimojima K, Kondo S, Abe S, Ikeno M, Shimizu T.
- Journal Title
  
  Pediatr Neurol
  
  Volume: 51(5) Pages: 730-733
- DOI
  10.1016/j.pediatrneurol.2014.07.025
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-26461551
[Journal Article] An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities.2014
- Author(s)
  Yamamoto T, Wilsdon A, Joss S, Isidor B, Erlandsson A, Suri M, Sangu N, Shimada S, Shimojima K, Le Caignec C, Samuelsson L, Stefanova M.
- Journal Title
  
  J Hum Genet.
  
  Volume: in press
- DOI
  10.1038/jhg.2014.21
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.2014
- Author(s)
  Yamamoto T, Mencarelli MA, Di Marco C, Mucciolo M, Vascotto M, Balestri P, Gérard M, Mathieu-Dramard M, Andrieux J, Breuning M, Hoffer MJ, Ruivenkamp CA, Shimada S, Sangu N, Shimojima K, Umezu R, Kawame H, Matsuo M, Saito K, Renieri A, Mari F.
- Journal Title
  
  Eur J Med Genet.
  
  Volume: in press
- DOI
  10.1016/j.ejmg.2014.02.001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4.2014
- Author(s)
  Yamamoto T, Togawa M, Shimada S, Sangu N, Shimojima K, Okamoto N.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 164A(3) Pages: 634-638
- DOI
  10.1002/ajmg.a.36325
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.2014
- Author(s)
  Shimojima K, Narita A, Maegaki Y, Saito A, Furukawa T, Yamamoto T.
- Journal Title
  
  BMC Res Notes.
  
  Volume: 7 Pages: 465-465
- DOI
  10.1186/1756-0500-7-465
- NAID
  120007163711
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Neuropsychological profiles of patients with 2q37.3 deletion associated with developmental dyspraxia.2014
- Author(s)
  Ogura K, Takeshita K, Arakawa C, Shimojima K, Yamamoto T.
- Journal Title
  
  Am J Med Genet B Neuropsychiatr Genet.
  
  Volume: 165B(8) Pages: 684-690
- DOI
  10.1002/ajmg.b.32274
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Novel nucleotide mutation leading to a recurrent amino acid alteration inSH3BP2in a patient with cherubism2013
- Author(s)
  Sangu N, Shimosato T, Inoda H, Shimada S, Shimojima K, Ando T, Yamamoto T.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 53(4) Issue: 4 Pages: 163-169
- DOI
  10.1111/cga.12013
- ISSN
  0914-3505
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients2013
- Author(s)
  Shimada S, Okamoto N, Hirasawa K, Yoshii K, Tani Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T
- Journal Title
  
  Am J Med Genet A
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] 109 kb deletion of chromosome 4p16.3 in a patient with mild phenotype of Wolf-Hirschhorn syndrome.2013
- Author(s)
  Okamoto N, Ohmachi K, Shimada S, Shimojima K, Yamamoto T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 161A(6) Pages: 1465-1469
- DOI
  10.1002/ajmg.a.35910
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Clinical manifestations of Xq28 functional disomy involving MECP2 in one female and two male patients.2013
- Author(s)
  Shimada S, Okamoto N, Hirasawa K, Yoshii K, Tani Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 161A(7) Pages: 1779-1785
- DOI
  10.1002/ajmg.a.35975
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 12013
- Author(s)
  Shimojima K, Shimada S, Sugawara M, Yoshikawa N, Niijima S, Urao M, Yamamoto T.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 53(4) Issue: 4 Pages: 155-159
- DOI
  10.1111/j.1741-4520.2012.00384.x
- ISSN
  0914-3505
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Establishment of iPS cells from patients with CNS diseases.2013
- Author(s)
  Shimojima K, Yamamoto T.
- Journal Title
  
  No To Hattatsu.
  
  Volume: 45(2) Pages: 137-142
- NAID
  10031156276
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] A novel nucleotide mutation leading to a recurrent amino acid alteration in SH3BP2 in a patient with cherubism2013
- Author(s)
  Sangu N, Shimosato T, Inoda H, Shimada S, Shimojima K, Ando T, Yamamoto T
- Journal Title
  
  Congenit Anom (Kyoto)
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] MECP2 duplication syndrome in both genders2013
- Author(s)
  Shimada S, Okamoto N, Ito M, Arai Y, Momosaki K, Togawa M, Maegaki Y, Sugawara M, Shimojima K, Osawa M, Yamamoto T
- Journal Title
  
  Brain Dev.
  
  Volume: 35(5) Pages: 411-419
- DOI
  10.1016/j.braindev.2012.07.010
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23591497, KAKENHI-PROJECT-24791090, KAKENHI-PUBLICLY-23110534
[Journal Article] Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism.2013
- Author(s)
  Shimada S, Okamoto N, Nomura S, Fukui M, Shimakawa S, Sangu N, Shimojima K, Osawa M, Yamamoto T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 161A(8) Pages: 2078-2083
- DOI
  10.1002/ajmg.a.36027
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus–Merzbacher-like disease2013
- Author(s)
  Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T
- Journal Title
  
  J Neurol Sci
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Challenges in genetic counseling because of intra-familial phenotypic variation of oral-facial-digital syndrome type 12013
- Author(s)
  Shimojima K, Shimada S, Sugawara M, Yoshikawa N, Niijima S, Urao M, Yamamoto T
- Journal Title
  
  Congenit Anom (Kyoto)
  
  Volume: in press
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Whole-exome sequencing of a unique brain malformation with periventricular heterotopia, cingulate polymicrogyria and midbrain tectal hyperplasia.2013
- Author(s)
  Okumura A, Hayashi M, Shimojima K, Ikeno M, Uchida T, Takanashi J, Okamoto N, Hisata K, Shoji H, Saito A, Furukawa T, Kishida T, Shimizu T, Yamamoto T.
- Journal Title
  
  Neuropathology.
  
  Volume: 33(5) Pages: 553-560
- DOI
  10.1111/neup.12007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] PRRT2 mutation in Japanese children with benign infantile epilepsy.2013
- Author(s)
  Okumura A, Shimojima K, Kubota T, Abe S, Yamashita S, Imai K, Okanishi T, Enoki H, Fukasawa T, Tanabe T, Dibbens LM, Shimizu T, Yamamoto T.
- Journal Title
  
  Brain Dev.
  
  Volume: 35(7) Pages: 641-646
- DOI
  10.1016/j.braindev.2012.09.015
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] De novo triplication of 11q12.3 in a patient with developmental delay and distinctive facial features2013
- Author(s)
  Yamamoto T, Matsuo M, Shimada S, Sangu N, Shimojima K, Aso S, Saito K.
- Journal Title
  
  Mol Cytogenet
  
  Volume: 6(1) Pages: 15-15
- DOI
  10.1186/1755-8166-6-15
- NAID
  120007163712
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PUBLICLY-23110534
[Journal Article] A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female2013
- Author(s)
  Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N, Yamamoto T.
- Journal Title
  
  J Neuros Sci
  
  Volume: 330(1-2) Pages: 123-126
- DOI
  10.1016/j.jns.2013.04.017
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090, KAKENHI-PROJECT-25461557
[Journal Article] Interstitial duplication of 2q32.1-q33.3 in a patient with epilepsy, developmental delay, and autistic behavior.2013
- Author(s)
  Usui D, Shimada S, Shimojima K, Sugawara M, Kawasaki H, Shigematu H, Takahashi Y, Inoue Y, Imai K, Yamamoto T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 161A(5) Pages: 1078-1084
- DOI
  10.1002/ajmg.a.35679
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement.2013
- Author(s)
  Eto K, Sakai N, Shimada S, Shioda M, Ishigaki K, Hamada Y, Shinpo M, Azuma J, Tominaga K, Shimojima K, Ozono K, Osawa M, Yamamoto T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 161A(12) Pages: 3049-3056
- DOI
  10.1002/ajmg.a.36156
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.2013
- Author(s)
  Shichiji M, Ito Y, Shimojima K, Nakamu H, Oguni H, Osawa M, Yamamoto T.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 161(A) Pages: 850-855
- DOI
  10.1002/ajmg.a.35768
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-24791090
[Journal Article] Homozygous c. 14576G> A variant of RNF213 predicts early-onset and severe form of moyamoya disease2012
- Author(s)
  Shimojima K, 他24名
- Journal Title
  
  Neurology
  
  Volume: 78 Pages: 803-810
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years2012
- Author(s)
  Shimojima K, 他4名
- Journal Title
  
  Am J Med Genet
  
  Volume: 158A Pages: 220-223
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Spinocerebellar ataxias type 27 derived from a disruption of the fibroblast growth factor 14 gene with mimicking phenotype of paroxysmal non-kinesigenic dyskinesia2012
- Author(s)
  Shimojima K, 他7名
- Journal Title
  
  Brain Dev
  
  Volume: 34 Pages: 230-233
- NAID
  10031050241
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Reduced PLP1 expression in induced pluripotent stem cells derived from a Pelizaeus-Merzbacher disease patient with a partial PLP1 duplication2012
- Author(s)
  Keiko Shimojima
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Pages: 580-586
- DOI
  10.1038/jhg.2012.71
- NAID
  10031056958
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22591071, KAKENHI-PROJECT-23710082, KAKENHI-PROJECT-24791090, KAKENHI-PUBLICLY-23110534
[Journal Article] Growth profiles of 34 patients with Wolf-Hirschhorn syndrome2012
- Author(s)
  Shimojima, K., et al
- Journal Title
  
  J Ped Genet
  
  Volume: 1 Pages: 33-37
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Growth profiles of 34 patients with Wolf-Hirschhorn syndrome2012
- Author(s)
  Shimojima K, 他1名
- Journal Title
  
  J Pediatr Genet
  
  Volume: 1 Pages: 33-37
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis2011
- Author(s)
  Shimojima K, 他3名
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Pages: 810-812
- NAID
  10030661761
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome2011
- Author(s)
  Shimojima K, 他9名
- Journal Title
  
  J Med Genet
  
  Volume: 48 Pages: 117-122
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] CDKL5 alterations lead to early epileptic encephalopathy in both genders2011
- Author(s)
  Shimojima K, 他17名
- Journal Title
  
  Epilepsia
  
  Volume: 52 Pages: 1835-1842
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale.2011
- Author(s)
  Kibe T, Mori Y, Okanishi T, Shimojima K, Yokochi K, Yamamoto T.
- Journal Title
  
  Am J Med Genet
  
  Volume: 155A Pages: 215-220
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV2011
- Author(s)
  Shimojima K, 他3名
- Journal Title
  
  Am J Med Genet
  
  Volume: 155A Pages: 1568-1573
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ62011
- Author(s)
  Shimojima K, 他5名
- Journal Title
  
  Am J Med Genet
  
  Volume: 155A Pages: 113-119
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011
- Author(s)
  Shimojima, K., et al
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Pages: 561-565
- DOI
  10.1038/jhg.2011.58
- NAID
  10030660361
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22890199, KAKENHI-PUBLICLY-23110534
[Journal Article] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011
- Author(s)
  Shimojima K, 他6名
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Pages: 561-556
- NAID
  10030660361
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis2011
- Author(s)
  Shimojima K, 他5名
- Journal Title
  
  Neuropediatrics
  
  Volume: 42 Pages: 135-137
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination2011
- Author(s)
  Shimojima, K., et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A Pages: 732-736
- DOI
  10.1002/ajmg.a.33891
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22890199, KAKENHI-PUBLICLY-23110534
[Journal Article] Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay2011
- Author(s)
  Shimojima K, 他4名
- Journal Title
  
  Am J Med Genet
  
  Volume: 155A Pages: 2997-3001
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.2011
- Author(s)
  Filges I, Shimojima K, Okamoto N, Rothlisberger B, Weber P, Huber AR, Nishizawa T, Datta AN, Miny P, Yamamoto T.
- Journal Title
  
  J Med Genet
  
  Volume: 48 Pages: 117-122
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] てんかん診療最前線アレイCGH法新技術によるてんかんの遺伝子研究2011
- Author(s)
  山本俊至, ら
- Journal Title
  
  Epilepsy
  
  Volume: 5 Pages: 47-52
- NAID
  40018856476
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] 9q22 Deletion-first familial case2011
- Author(s)
  Shimojima K, 他9名
- Journal Title
  
  Orphanet J Rare Dis
  
  Volume: 6 Pages: 45-45
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] 【神経系におけるiPS細胞iPS細胞の活用も含めた神経機能修復の現状と将来】iPS細胞の小児神経疾患の病態解析への応用2011
- Author(s)
  下島圭子, ら
- Journal Title
  
  脳21
  
  Volume: 14 Pages: 218-223
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.32011
- Author(s)
  Shimojima K, 他6名
- Journal Title
  
  Epilepsia
  
  Volume: 52
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome2011
- Author(s)
  Shimojima K, 他2名
- Journal Title
  
  Am J Med Genet
  
  Volume: 155A Pages: 2293-2297
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Two concurrent chromosomal aberrations involving interstitial deletion in 1q24.2q25.2 and inverted duplication and deletion in 10q26 in a patient with stroke associated with antithrombin deficiency and a patent foramen ovale2011
- Author(s)
  Shimojima K, 他5名
- Journal Title
  
  Am J Med Genet
  
  Volume: 155A Pages: 215-220
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome2011
- Author(s)
  Shimojima, K., et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A Pages: 2293-2297
- DOI
  10.1002/ajmg.a.34164
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22890199, KAKENHI-PUBLICLY-23110534
[Journal Article] Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.2011
- Author(s)
  Yamamoto T, Shimojima K, Nishizawa T, Matsuo M, Ito M, Imai K
- Journal Title
  
  Am J Med Genet
  
  Volume: 155A Pages: 113-119
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] ゲノムコピー数異常と疾患iPS細胞を用いた病態解析2011
- Author(s)
  山本俊至, ら
- Journal Title
  
  東京女子医科大学雑誌
  
  Volume: 81 Pages: 215-219
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ62011
- Author(s)
  Yamamoto, T., et al
- Journal Title
  
  Am J Med Genet A
  
  Volume: 155A Pages: 113-119
- DOI
  10.1002/ajmg.a.33735
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-21591334, KAKENHI-PROJECT-22890199, KAKENHI-PUBLICLY-23110534
[Journal Article] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination2011
- Author(s)
  Shimojima K, 他6名
- Journal Title
  
  Am J Med Genet
  
  Volume: 155A Pages: 732-736
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome. Result of Japanese cohort study2010
- Author(s)
  Shimojima K, 他10名
- Journal Title
  
  Epilepsia
  
  Volume: 51 Pages: 2449-2452
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Zebrafish gene knockdowns implyroles for human YWHAG in infantile spasms and cardiomegaly.2010
- Author(s)
  Komoike Y, Fujii K, Nishimura A, Hiraki Y, Hayashidani M, Shimojima K, Nishizawa T, Higashi K, Yasukawa K, Saitsu H, Miyake N, Mizuguchi T, Matsumoto N, Osawa M, Kohno Y, Higashinakagawa T, Yamamoto T.
- Journal Title
  
  Genesis
  
  Volume: 48 Pages: 233-243
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.2010
- Author(s)
  Inage E, Suzuki M, Minowa K, Akimoto N, Hisata K, Shoji H, Okumura A, Shimojima K, Shimizu T, Yamamoto T.
- Journal Title
  
  Eur J Med Genet
  
  Volume: 53 Pages: 159-161
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6.2010
- Author(s)
  Takatsuki S, Nakamura R, Haga Y, Mitsui K, Hashimoto T, Shimojima K, Saji T, Yamamoto T.
- Journal Title
  
  Am J Med Genet
  
  Volume: 152A Pages: 1020-1025
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study.2010
- Author(s)
  Otsuka M, Oguni H, Liang J-S, Ikeda H, Imai K, Hirasawa K, Imai K, Tachikawa E, Shimojima K, Osawa M, Yamamoto T.
- Journal Title
  
  Epilepsia
  
  Volume: 51 Pages: 2449-2452
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB62010
- Author(s)
  Shimojima K, 他7名
- Journal Title
  
  Am J Med Genet
  
  Volume: 152A Pages: 1020-1025
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy2010
- Author(s)
  Shimojima K, 他2名
- Journal Title
  
  Am J Med Genet
  
  Volume: 152A Pages: 2820-2826
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.2010
- Author(s)
  Komoike Y, Shimojima K, LiangJ-S, Fujii H, Maegaki Y, Osawa M, Fujii S, Higashinakagawa T, Yamamoto T.
- Journal Title
  
  J Hum Genet
  
  Volume: 55 Pages: 155-162
- NAID
  10030733965
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome2010
- Author(s)
  Shimojima K, 他9名
- Journal Title
  
  Eur J Med Genet
  
  Volume: 53 Pages: 159-161
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly2010
- Author(s)
  Shimojima K, 他16名
- Journal Title
  
  Genesis
  
  Volume: 48 Pages: 233-243
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Co-occurrence of Prader-Willi and Sotos syndromes.2010
- Author(s)
  Okamoto N, Akimaru N, Matsuda K, Suzuki Y, Shimojima K, Yamamoto T.
- Journal Title
  
  Am J Med Genet
  
  Volume: 152A Pages: 2103-2109
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Genomic copy number variations at 17p13.3 and epileptogenesis.2010
- Author(s)
  Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T.
- Journal Title
  
  Epilepsy Res
  
  Volume: 89 Pages: 303-309
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Genomic copy number variations at 17p13.3 and epileptogenesis2010
- Author(s)
  Shimojima K, 他8名
- Journal Title
  
  Epilepsy Res
  
  Volume: 89 Pages: 303-309
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications2010
- Author(s)
  Shimojima K, 他16名
- Journal Title
  
  Brain Dev
  
  Volume: 32 Pages: 171-179
- NAID
  10027490563
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] アレイCGH法:新技術によるてんかんの遺伝子研究2010
- Author(s)
  山本俊至、下島圭子
- Journal Title
  
  Epilepsy
  
  Volume: 42 Pages: 138-143
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia2010
- Author(s)
  Shimojima K, 他8名
- Journal Title
  
  Early Hum Dev
  
  Volume: 86 Pages: 665-667
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.2010
- Author(s)
  Shimojima K, Inoue T, Hoshino A, Kakiuchi S, Watanabe Y, Sasaki M, Nishimura A, Takeshita-Yanagisawa A, Tajima G, Ozawa H, Kubota M, Tohyama J, Sasaki M, Oka A, Saito K, Osawa M, Yamamoto T.
- Journal Title
  
  Brain Dev
  
  Volume: 32 Pages: 171-179
- NAID
  10027490563
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy.2010
- Author(s)
  Shimojima K, Imai K, Yamamoto T.
- Journal Title
  
  Am J Med Genet
  
  Volume: 152A Pages: 2820-2826
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish2010
- Author(s)
  Shimojima K, 他8名
- Journal Title
  
  J Hum Genet
  
  Volume: 55 Pages: 155-162
- NAID
  10030733965
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia.2010
- Author(s)
  Okumura A, Yamamoto T, Kidokoro H, Kato T, Kubota T, Shoji H, Sato H, Shimojima K, Shimizu T.
- Journal Title
  
  Early Hum Dev
  
  Volume: 86 Pages: 665-667
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome
- Author(s)
  Shimojima K, 他12名
- Journal Title
  
  Seizure
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] ゲノムコピー数異常と疾患iPS細胞を用いた病態解析
- Author(s)
  山本俊至、下島圭子
- Journal Title
  
  東京女子医科大学雑誌
  
  Volume: (印刷中)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination
- Author(s)
  Shimojima K Isidor B, Le Caignec C, Kondo A, Sakata S, Ohno K, Yamamoto T.
- Journal Title
  
  Am J Med Genet
  
  Volume: (印刷中)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region
- Author(s)
  Shimojima K, et al
- Journal Title
  
  Eur J Med Genet
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Journal Article] Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region
- Author(s)
  Shimojima K, 他7名
- Journal Title
  
  Eur J Med Genet
  
  Volume: (in press)
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] エクソン近傍のイントロン欠失によって生じるPLP1スプライシング異常.2020
- Author(s)
  山本圭子, 赤川浩之, 荒木敦, 柳久美子, 要匡, 岡本伸彦, 山本俊至.
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] Acrocentricな染色体の短腕への転座を示した2例.2020
- Author(s)
  山本圭子, 長谷川結子, 岡本伸彦, 菅野仁, 山本俊至.
- Organizer
  第44回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] WAGR症候群患者の実態調査と家族会サポート2020
- Author(s)
  村松みゆき, 柳下友映, 下島圭子, 三浦健一郎, 山本俊至
- Organizer
  第44回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 選択的IgG2低下を示し中耳炎を反復したZBTB20のde novo変異によるPrimrose症候群の1例.2020
- Author(s)
  山本圭子, 今泉太一, 赤川浩之, 菅野仁, 山本俊至.
- Organizer
  第62回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 新規BICD2バリアントにより歩容異常・下肢優位の筋力低下を示した母子例2020
- Author(s)
  柳下友映, 佐藤孝俊, 石垣景子, 永田智, 山本俊至
- Organizer
  第44回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] G分染法では２つの染色体間での均衡転座と診断された3染色体間での不均衡転座2020
- Author(s)
  山本俊至, 山本圭子, 恩藤由美子, 谷本綾子, 藤井裕士
- Organizer
  第44回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] ナノポアシーケンスによって明らかになるゲノム構造異常2020
- Author(s)
  山本俊至, 柳下友映, 今泉太一, 山本圭子, 岡本伸彦
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 重複の両端のコピー数がさらに増えている新規染色体構造異常のメカニズム2020
- Author(s)
  柳下友映, 山本圭子, 今泉太一, 恩藤由美子, 岡本伸彦, 矢野珠巨, 永田智, 山本俊至
- Organizer
  第62回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 14qサブテロメア欠失の表現型に関する一報告2020
- Author(s)
  山崎あや, 宮田理英, 恩藤由美子, 山本圭子, 山本俊至
- Organizer
  第44回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 白質異常を端緒に特定された新規LAMA2バリアント.2020
- Author(s)
  山本圭子, 小野浩明, 今泉太一, 山本俊至.
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 臨床症状よりCoffin-Siris症候群が疑われた患者において認められた新規EP300変異2020
- Author(s)
  相馬未来, チョン・ピンフィー, 今泉太一, 柳下友映, 山本圭子, 山本俊至
- Organizer
  日本人類遺伝学会第65回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] ロングリードシーケンサーを用いた染色体構造異常の解析2020
- Author(s)
  今泉太一, 柳下友映, 山本圭子, 西恵理子, 岡本伸彦, 山本俊至
- Organizer
  第62回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 疾患特異的iPS細胞を用いたCDKL5てんかん脳症の病態解明2020
- Author(s)
  山本俊至, 山本圭子
- Organizer
  第62回日本小児神経学会学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] ALDH7A1の複合ヘテロ変異が同定できたビタミン依存性てんかんの１例2019
- Author(s)
  柳下友映・山本圭子・小池敬義・那須裕郷・高橋幸利・秋山倫之・永田智・山本俊至
- Organizer
  臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] LIS1のde noboスプライシング変異による滑脳症の1例2019
- Author(s)
  柳下友映, 衛藤薫, 山本圭子, 今泉太一, 永田智, 山本俊至
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 着床前染色体異数性診断(PGT-A)に用いる染色体数的異常の診断方法の検討2019
- Author(s)
  山本俊至・山本圭子・恩藤由美子・青山直樹・黒田知子・加藤恵一
- Organizer
  臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 精神運動発達遅滞・特徴的顔貌・心奇形を認める19q13.32欠失の新規症例2019
- Author(s)
  柳下友映・山本圭子・恩藤由美子・岡本信彦・永田智・山本俊至
- Organizer
  第61回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 重度発達遅滞を示したSATB2を含む2q33.1領域の染色体重複例2019
- Author(s)
  井上陽子・今泉太一・柳下友映・山本圭子・岡本伸彦・山本俊至
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] Analysis of risk factors at pancreaticoduodenectomy in elderly patients2019
- Author(s)
  Koutarou Kuhara・Shunichi Shiozawa・Takebumi Usui・Akira Tsuchiya・Shimojima Keiko・Yukio Shimojima・Yasuyo Nakayasu・Kentaro Yamaguchi・Hajime Yokomizo・Kazuhiko Yoshimatsu・Takeshi Shimakawa・Takao Kastube・Yoshihiko Naritaka
- Organizer
  第31回日本肝胆膵外科学会・学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 神経発達障害に対するクリニカルシーケンスの診断効率2019
- Author(s)
  山本俊至・今泉太一・山本圭子・柳下友映・瀬戸俊之・岡本伸彦
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 皮質下嚢胞をもつ大脳型白質脳症亜系遺伝子MLC2のヘテロ変異が同定された１例2019
- Author(s)
  井上陽子・本岡里英子・今泉太一・恩藤由美子・山本圭子・山本俊至
- Organizer
  臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] NGS解析で診断されたMECP2重複症候群の１家系2019
- Author(s)
  今泉太一・チョンピンフィー・吉良龍太郎・山本圭子・山本俊至
- Organizer
  臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 超ロングシーケンスによる染色体構造異常の新たなメカニズムの解析2019
- Author(s)
  柳下友映・山本圭子・今泉太一・恩藤由美子・岡本伸彦・山本俊至
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] MED13遺伝子を含む17q23微細欠失を示した男児例2019
- Author(s)
  村松みゆき・今泉太一・柳下友映・山本圭子・岡本伸彦・山本俊至
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 石灰化をともなう多小脳回をきたしたPallister-Killian症候群2019
- Author(s)
  遠山潤・小松原孝夫・小林悠・眞柄慎一・放上萌美・中山有美・松井亨・加藤光広・下島圭子・山本俊至
- Organizer
  第41回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 1p36欠失症候群家族会の活動と本邦における実態2019
- Author(s)
  山本圭子・柳下友映・村松みゆき・今泉太一・山本俊至
- Organizer
  第41回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 女性Pelizaeus-Merzbacher病患者の発症メカニズムと治療戦略の検討2019
- Author(s)
  山本圭子・青木雄介・井上　健・山本俊至
- Organizer
  第61回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 10番染色体長腕サブテロメア欠失の6例2019
- Author(s)
  今泉太一, 山本圭子, 椎原　隆, 岡本伸彦, 山本俊至
- Organizer
  第61回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 13番染色体構造異常6例の遺伝子型・表現型相関2019
- Author(s)
  村松みゆき・チョンピンフィー・吉良龍太郎・山本圭子・岡本伸彦・山本俊至
- Organizer
  臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders.2019
- Author(s)
  Yamamoto T, Imaizumi T, Yamamoto-Shimojima K, Yanagishita T, Seto T, Okamoto N
- Organizer
  The 59th Annual Meeting of the Japanese Teratology Society/ The 13th World Congress of the International Cleftlip and Palate Foundation -CLEFT 2019-
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] NKX2-5が位置する5q35.1領域の中間部欠失を示した３例2019
- Author(s)
  山本圭子・鈴村宏・岡本伸彦・山本俊至
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] デジタルPCRを用いたアレイCGH解析結果の検証2019
- Author(s)
  今泉太一・山本圭子・山本俊至
- Organizer
  第41回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 15qサブテロメア欠失2症例からの考察2019
- Author(s)
  柳下友映・山本圭子・今泉太一・恩藤由美子・西恵理子・岡本伸彦・永田智・山本俊至
- Organizer
  第41回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] ロングリードシーケンサーを用いた複雑な染色体構造異常の切断点解析2019
- Author(s)
  今泉太一・山本圭子・柳下友映・恩藤由美子・山本俊至
- Organizer
  日本人類遺伝学会第64回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 全エクソーム解析で診断されたPrimrose症候群の本邦第１例2019
- Author(s)
  山本圭子・今泉太一・赤川浩之・山本俊至
- Organizer
  臨床遺伝2019 in Sapporo/第26回日本遺伝子診療学会大会・第43回日本遺伝カウンセリング学会学術集会合同学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] PURAを含む5q31欠失の新規例2018
- Author(s)
  下島圭子、岡本伸彦、山本俊至
- Organizer
  第40回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] USP7を含む16p13.2領域の欠失を示す知的障害の1例2018
- Author(s)
  柳下友映・今泉太一・岡本伸彦・山本圭子・山本俊至
- Organizer
  第58回日本先天異常学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] Proximal 22q13欠失；SHANK3のハプロ不全だけでは症状を説明できない症例について2018
- Author(s)
  高野梢、下島圭子、岡本伸彦、山本俊至
- Organizer
  第40回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 高度脳波異常を示したMED13L変異によるてんかん性脳症の1例2018
- Author(s)
  柳下友映・今泉太一・山本-下島圭子・北原光・今井克美・山本俊至
- Organizer
  第60回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] WDRハプロ不全によるてんかん症候群；新規1q41q42微細欠失からの考察2018
- Author(s)
  柳下友映、下島圭子、中野さやか、今井克美、山本俊至
- Organizer
  第40回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] OTX2を含む14q22.3q23.1微細欠失を示した両側無眼球症の1例2018
- Author(s)
  村松みゆき・今泉太一・柳下友映・山本圭子・岡本伸彦・山本俊至
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 多彩な症状を示す1q21.1微細欠失の4例2018
- Author(s)
  柳下友映・今泉太一・山本圭子・鞁嶋有紀・岡本伸彦・山本俊至
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] FMR1を含むX染色体微細欠失により過成長と精神運動発達遅滞を来した女児例2018
- Author(s)
  柳下友映・山本-下島圭子・西川恵里子・岡本伸彦・山本俊至
- Organizer
  第42回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 1番染色体UPDによるSZT2ホモ接合変異によって生じたと考えられる重度知的障害症例2018
- Author(s)
  今泉太一、渡辺基子、下島圭子、熊倉啓、山本俊至
- Organizer
  第40回日本小児遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] X染色体上のゲノムコピー数異常を認めた症例の考察2017
- Author(s)
  下島圭子、岡本伸彦、白井謙太朗、山本俊至
- Organizer
  第62回日本人類遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 同胞間で反復して認められた染色体微細構造異常；親世代の低頻度モザイクCNV2017
- Author(s)
  山本俊至、下島圭子、岡本伸彦、斎藤加代子
- Organizer
  第41回日本遺伝カウンセリング学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 自閉症スペクトラム患者に認められたMEIS2を含む15q14欠失2017
- Author(s)
  山本俊至、下島圭子、恩藤由美子、岡本伸彦
- Organizer
  第62回日本人類遺伝学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] 網羅的ゲノム解析により発達障害患者に認められたde novo遺伝子変異2017
- Author(s)
  山本俊至、下島圭子、岡本伸彦
- Organizer
  第59回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] Neuro-functional analysis using disease-specific iPS cells2017
- Author(s)
  Yamamoto T, Shimojima K
- Organizer
  Bulletin of the Japanese Sciety for Neurochemistry
- Data Source
  KAKENHI-PROJECT-15K09631
[Presentation] 2q23q24微細欠失症候群の患者に認められる発達遅滞の候補遺伝子絞り込み2017
- Author(s)
  下島圭子、岡本伸彦、山本俊至
- Organizer
  第57回日本先天異常学会学術集会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] CTNNA変異の表現型との関連についての考察2017
- Author(s)
  山本俊至、下島圭子、岡本伸彦、斎藤加代子
- Organizer
  第24回日本遺伝子診療学会
- Data Source
  KAKENHI-PROJECT-17K18133
[Presentation] Single nucleotide variation in CLCN6 identified in patients with benign partial epilepsies in infancy and/or febrile seizures.2016
- Author(s)
  Yamamoto T, Shimojima K, Komoike Y, Ishii A, Abe S, Yamashita S, Imai K, Kubota T, Fukasawa T, Okanishi T, Enoki H, Tanabe T, Saito A, Furukawa T, Shimizu T, Milligan CJ, Petrou S, Heron SE, Dibbens LM, Hirose S, Okumura A.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府左京区）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] Megalencephalic leukoencephalopathy with subcortical cystsの日本人8名におけるMLC1遺伝子解析.2016
- Author(s)
  島田姿野, 山本俊至, 下島圭子, 永田智.
- Organizer
  第58回日本小児神経学会学術集会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2016-06-03
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.2016
- Author(s)
  Ueda K, Okamoto N, Toribe Y, Shimojima K, Yamamoto T.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府左京区）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 非対称性大脳皮質異形成症症例に認められた新規TUBB3変異.2016
- Author(s)
  下島圭子, 岡本伸彦, 山本俊至.
- Organizer
  第58回日本小児神経学会学術集会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2016-06-03
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] ラムダ縫合早期癒合を示したMAP2K2領域の微細欠失によるRASopathies患者.2016
- Author(s)
  下島圭子, 恩藤由美子, 松藤まゆみ, 佐野のぞみ, 水流尚志, 山本俊至.
- Organizer
  第56回日本先天異常学会学術集会
- Place of Presentation
  姫路商工会議所（兵庫県姫路市）
- Year and Date
  2016-07-29
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] Novel mutation in the COL1A1 gene causes severe scoliosis and valvular heart disease in a Japanese family with osteogenesis imperfecta.2016
- Author(s)
  Seto T, Yamamoto T, Shimojima K, Shintaku H.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府左京区）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] Two cases of monosomy of 3q with cerebral MRI findings.2016
- Author(s)
  Dowa Y, Sameshima K, Ichinomiya K, Shiihara T, Shimojima K, Yamamoto T.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府左京区）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 多彩な合併症を示したMED13Lハプロ不全症候群の3例2016
- Author(s)
  下島圭子、山本俊至、島川修、岡本伸彦
- Organizer
  第39回日本小児遺伝学会学術集会
- Place of Presentation
  慶應義塾大学三田キャンパス（東京都港区）
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy.2016
- Author(s)
  Yamamoto T, Shimojima K, Shibata T, Akiyama M, Oka M, Akiyama T, Yoshinaga H, Kobayashi K.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府左京区）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] CHCHD2 is down-regulated in neuronal cells differentiated from iPS cells derived from patients with lissencephaly.2016
- Author(s)
  Shimojima K, Okumura A, Hayashi M, Kondo T, Inoue H, Yamamoto T.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府左京区）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] Mutation in the gene encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease.2016
- Author(s)
  Shimada S, Shimojima K, Yamamoto T, Nagata S.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府左京区）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 次世代シーケンスによるSNVスクリーニングだけではCNVが見逃される.2016
- Author(s)
  山本俊至, 下島圭子, 恩藤由美子, 岡本伸彦.
- Organizer
  第56回日本先天異常学会学術集会
- Place of Presentation
  姫路商工会議所（兵庫県姫路市）
- Year and Date
  2016-07-29
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 次世代シーケンサー・パネル解析結果を用いた隠れマルコフモデルによるゲノムコピー数解析の試み.2015
- Author(s)
  山本俊至, 下島圭子, 斎藤聡.
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 2p15-p16.1微細欠失の２例-既報告例18例との比較-.2015
- Author(s)
  下島圭子, 岡本伸彦, 三宮範子, 山本俊至.
- Organizer
  第55回日本先天異常学会学術集会
- Place of Presentation
  パシフィコ横浜会議センター(神奈川県横浜市)
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 次世代シーケンサーによる網羅的遺伝子解析でMED12変異が認められた非特異的知的障害の男児例.2015
- Author(s)
  山本俊至, 下島圭子.
- Organizer
  第55回日本先天異常学会学術集会
- Place of Presentation
  パシフィコ横浜会議センター(神奈川県横浜市)
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] Megalencephalic leukoencephalopathy with subcortical cystsの日本人患者におけるMLC1遺伝子変異解析.2015
- Author(s)
  島田姿野, 山本俊至, 下島圭子, 永田智.
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 次世代シーケンサーによる網羅的遺伝子解析でEFNB1変異が認められたcraniofacial syndromeの女児例.2015
- Author(s)
  三宮範子, 五十嵐成, 坂本優子, 下地一彰, 新島新一, 安藤智博, 下島圭子, 山本俊至.
- Organizer
  第55回日本先天異常学会学術集会
- Place of Presentation
  パシフィコ横浜会議センター(神奈川県横浜市)
- Year and Date
  2015-07-25
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] ゲノム構造異常によって発症した自閉症・発達障害の疾患特異的iPS細胞を用いた病態解明と治療法開発.2015
- Author(s)
  山本俊至, 下島圭子, 金子博之, 岡本伸彦, 斎藤潤, 北畠康司, 永田浩一, 矢田俊彦, 小坂仁, 山形崇倫.
- Organizer
  第57回日本小児神経学会学術集会
- Place of Presentation
  帝国ホテル大阪(大阪府大阪市）
- Year and Date
  2015-05-28
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 3p interstitial deletion including PRICKLE2 in identical twins with autistic features.2015
- Author(s)
  Okumura A, Yamamoto T, Miyajima M, Shimojima K, Kondo S, Abe S, Ikeno M, Kurahashi H, Takasu M, Shimizu T.
- Organizer
  第57回日本小児神経学会学術集会
- Place of Presentation
  帝国ホテル大阪(大阪府大阪市）
- Year and Date
  2015-05-28
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] トリオ解析の結果良性バリアントと考えられたlarge CNVの検討.2015
- Author(s)
  下島圭子, 山本俊至.
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] SLC16A2変異によるAllan–Herndon–Dudley症候群の3例.2015
- Author(s)
  下島圭子, 梅村綾子, 植松貢, 中山東城, 丸山幸一, 井上健, 山本俊至.
- Organizer
  第39回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  三井ガーデンホテル千葉(千葉県千葉市）
- Year and Date
  2015-06-25
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] Genetic basis of benign infantile epilepsy.2015
- Author(s)
  Yamamoto T
- Organizer
  International Symposium on Benign Infantile Seizures (ISBIS), The 17th Annual Meeting of Infantile Seizure Society
- Place of Presentation
  National Center of Sciences Building (Tokyo, Japan)
- Year and Date
  2015-09-25
- Invited / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09631
[Presentation] 7q31.33-q32.1微細欠失と知的障害・発達障害.2015
- Author(s)
  三宮範子, 下島圭子, 高橋勇弥, 大橋伯, 遠山潤, 山本俊至.
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] エクソーム解析によって明らかになったCLCN6変異はてんかん関連である.2015
- Author(s)
  山本俊至, 下島圭子, 奥村彰久, 石井敦士, 広瀬伸一.
- Organizer
  日本人類遺伝学会第60回大会
- Place of Presentation
  京王プラザホテル（東京都新宿区）
- Year and Date
  2015-10-14
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 進行性大脳白質障害の実態調査と遺伝子診断.2015
- Author(s)
  三宮範子, 島田姿野, 下島圭子, 山本俊至.
- Organizer
  第39回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  三井ガーデンホテル千葉(千葉県千葉市）
- Year and Date
  2015-06-25
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 9番染色体p13.2の微細欠失を示す3女児例.2014
- Author(s)
  下島圭子, 岡本伸彦, 玉崎章子, 山本俊至.
- Organizer
  第37回日本小児遺伝学会学術集会
- Place of Presentation
  名古屋市立大学（愛知県名古屋市）
- Year and Date
  2014-04-10
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] Pelizaeus-Merzbacher-like disease患者に認められたGJC2ホモ変異は母親性ダイソミーによるLOHによって生じた2013
- Author(s)
  下島圭子、田中竜太、島田姿野、三宮範子、中山純子、岩崎信明、山本俊至
- Organizer
  日本人類遺伝学会学術集会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 疾患患者由来iPS細胞の樹立と病態解析：中枢神経障害への応用2012
- Author(s)
  下島圭子, 山本俊至
- Organizer
  第54回日本小児神経学会総会
- Place of Presentation
  札幌
- Invited
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] PS細胞における二次的な染色体再構成についての検討2012
- Author(s)
  下島圭子, 菅原みどり, 島田姿野, 三宮範子, 山本俊至
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] MEF2Cを含まない5q14.3微細欠失2012
- Author(s)
  下島圭子, 奥村彰久, 森墾, 安部信平, 池野充, 清水俊明, 山本俊至
- Organizer
  第52回日本先天異常学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 小児てんかん脳症におけるCDKL5の包括的解析2011
- Author(s)
  下島圭子, 他9名
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 新規微細欠失症候群の確立;5q31.3 deletion syndrome2011
- Author(s)
  下島圭子, ら
- Organizer
  第56回日本人類遺伝学会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] CDKL5変異は男児における難治性てんかん脳症にも関連している2011
- Author(s)
  下島圭子, 他17名
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 1p36欠失症候群の本邦における実態と欠失範囲の同定2011
- Author(s)
  下島圭子, 他3名
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 小児てんかん脳症におけるCDKL5の包括的解析2011
- Author(s)
  山本俊至, ら
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Schinzel-Giedion症候群の原因遺伝子SETBP1のハプロ不全は非特異的な精神発達遅滞の原因となる2011
- Author(s)
  山本俊至, ら
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] MECP2領域微細重複の4例2011
- Author(s)
  下島圭子, 他6名
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 新規微細欠失症候群の確立; 5q31.3 deletion syndrome2011
- Author(s)
  下島圭子, 他6名
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 小児てんかん脳症におけるCDKL5の包括的解析2011
- Author(s)
  山本俊至, ら
- Organizer
  第114回日本小児科学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Skeletal anomalies and severe language disorder with submicroscopic deletion in 12q13 including HOXC cluster2011
- Author(s)
  Shimojima K, 他2名
- Organizer
  12th ICHG
- Place of Presentation
  Montreal
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 中枢神経病態解析を目指したダウン症候群患者由来iPS細胞の樹立2011
- Author(s)
  下島圭子, ら
- Organizer
  第114回日本小児科学会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination2011
- Author(s)
  Shimojima K, 他6名
- Organizer
  12th ICHG
- Place of Presentation
  Montreal
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011
- Author(s)
  Yamamoto T, et al
- Organizer
  12th International Congress of Human Genetics
- Place of Presentation
  Montreal
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination2011
- Author(s)
  Shimojima K, et al
- Organizer
  12th International Congress of Human Genetics
- Place of Presentation
  Montreal
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] トリオサンプルを用いた先天性疾患のエクソーム解析2011
- Author(s)
  山本俊至, ら
- Organizer
  第56回日本人類遺伝学会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Pelizaeus-Merzbacher病患者由来iPS細胞の樹立と病態解析2011
- Author(s)
  下島圭子, 他8名
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 新規変異を認めたSimpson-Golabi-Behmel Syndromeの一例2011
- Author(s)
  下島圭子, 他5名
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Pelizaeus-Merzbacher病患者由来iPS細胞の樹立と病態解析2011
- Author(s)
  下島圭子, 他8名
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Collybistinの機能喪失はてんかんを伴う症候性X連鎖精神発達遅滞の原因となる2011
- Author(s)
  山本俊至, ら
- Organizer
  第56回日本人類遺伝学会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 中枢神経病態解析を目指したダウン症候群患者由来iPS細胞の樹立2011
- Author(s)
  下島圭子, 他1名
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Pelizaeus-Merzbacher病患者由来iPS細胞の樹立と病態解析2011
- Author(s)
  下島圭子, ら
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] CDKL5遺伝子異常に伴うてんかんの早期診断の手がかり2011
- Author(s)
  下島圭子, 他11名
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011
- Author(s)
  Shimojima K, 他6名
- Organizer
  12th ICHG
- Place of Presentation
  Montreal
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 5q31.3新規微細欠失症候群2011
- Author(s)
  下島圭子, 他6名
- Organizer
  第34回日本小児遺伝学会学術集会
- Place of Presentation
  横浜
- Year and Date
  2011-08-11
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Collybistinの機能喪失はてんかんを伴う症候性X連鎖精神発達遅滞の原因となる2011
- Author(s)
  下島圭子, 他6名
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] トリオサンプルを用いた先天性疾患のエクソーム解析2011
- Author(s)
  下島圭子, 他8名
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Xq11.1に位置するARHGEF9遺伝子のnullisomyは精神遅滞・てんかんの原因となる2011
- Author(s)
  下島圭子, 他3名
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 14q24.3微細欠失によるEIF2B2のunmasked mutationで発症したVanishing White Metter disease2011
- Author(s)
  下島圭子, 他7名
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 1p36欠失症候群の本邦における実態と欠失範囲の同定2011
- Author(s)
  山本俊至, ら
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Schinzel-Giedion症候群の原因遺伝子SETBP1のハプロ不全は非特異的な精神発達遅滞の原因となる2011
- Author(s)
  下島圭子, 他2名
- Organizer
  第53回日本小児神経学会総会
- Place of Presentation
  横浜
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Pelizaeus-Merzbacher病患者由来iPS細胞の樹立と病態解析2011
- Author(s)
  下島圭子, ら
- Organizer
  第56回日本人類遺伝学会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] CDKL5微小欠損に肺炎球菌感染症を反復したIgG2サブクラス欠損症の1例2011
- Author(s)
  下島圭子, 他8名
- Organizer
  第114回日本小児科学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 6番染色体長腕中間部欠失を認めた3例Prader-Willi like phenotypeの責任領域の検討2010
- Author(s)
  下島圭子, 岡本伸彦, 益山龍雄, 荒井康裕, 山本俊至
- Organizer
  第33回日本小児遺伝学会学術集会
- Place of Presentation
  盛岡
- Year and Date
  2010-04-22
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] TUHP1のハプロ不全は精神発達遅滞とてんかんの原因となり得る2010
- Author(s)
  王島圭子, 蒋池勇太, 遠山潤, Paez MarcoT, 中川栄二, 後藤雄一, 大野耕策, 高橋苑子, 大津真優, 小国弘量, 大澤真木子, 東中川徹, 山本俊至
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  さいたま
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Failure of spermatogenesis in distal Xp nullisomy might be associated with miss-conjunction of sex chromosomes.2010
- Author(s)
  Y.Kido, S.Sakazume, K.Obata, N.Murakami, Y.Ooto, K.Shimojima, T.Yamamoto, T.Nagai
- Organizer
  60th Annual Meeting of American Society of Human Genetics
- Place of Presentation
  Washington DC
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] TULIP1のハプロ不全は、発達遅滞と難治性てんかんの原因となる2010
- Author(s)
  下島圭子, 他8名
- Organizer
  第52回日本小児神経学会大会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish2010
- Author(s)
  Shimojima K, 他8名
- Organizer
  The 60th Annual Meeting ASHG
- Place of Presentation
  Washington DC, USA
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 軽症胃腸炎に伴うけいれん患者におけるSCN1B遺伝子解析2010
- Author(s)
  山下進太郎, 山本俊至, 下島圭子, 奥村彰久, 大友義之, 新島新一
- Organizer
  第44回日本てんかん学会
- Place of Presentation
  岡山
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] ダウン症候群責任領域のハプロ不全による臨床症状2010
- Author(s)
  下島圭子, 他3名
- Organizer
  第52回日本小児神経学会大会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 点頭てんかんを発症したWilliams症候群の2症例2010
- Author(s)
  向田壮一, 今井克美, 下島圭子, 山本俊至, 池上真理子, 池田浩子, 高山留美子, 最上友紀子, 高橋幸利
- Organizer
  第52回日本小児神経学会総会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 点頭てんかんを発症したWilliams症候群の2症例2010
- Author(s)
  下島圭子, 他8名
- Organizer
  第52回日本小児神経学会大会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Williams症候群責任領域近傍のYWHAGは点頭てんかんと心肥大の原因となり得る2010
- Author(s)
  下島圭子, 他9名
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] CDKL5遺伝子異常を有する乳児早期発症てんかんの検討発作型と脳波について2010
- Author(s)
  大谷早苗, 今井克美, 高橋宏佳, 高山留美子, 最上友紀子, 大谷英之, 池田浩子, 重松秀夫, 美根潤, 高橋幸利, 下島圭子, 山本俊至, 井上有史
- Organizer
  第44回日本てんかん学会
- Place of Presentation
  岡山
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 17番染色体p13.1領域の微細欠失とゼブラフィッシュによるGABARAP機能解析2010
- Author(s)
  下島圭子, 他8名
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] TULIP1 (RALGAPA1) haploinsufficiency with brain development delay2010
- Author(s)
  K.Shimojima, Y.Komoike, J.Tohyama, S.Takahashi, M.Paez, E.Nakagawa, Y.Goto, K.Ohno, M.Ohtsu, H.Oguni, M.Osawa, T.Higashinakagawa, T.Yamamoto.
- Organizer
  60th Annual Meeting of American Society of Human Genetics
- Place of Presentation
  Washington DC
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] TULIP1のハプロ不全は、発達遅滞と難治性てんかんの原因となる2010
- Author(s)
  下島圭子, 他12名
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 9q34欠失症候群5例の臨床研究2010
- Author(s)
  下島圭子, 他2名
- Organizer
  第52回日本小児神経学会大会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] アレイCGH解析で診断に至ったJacobsen症候群の1例2010
- Author(s)
  高橋郁子, 高橋勉, 澤田賢一, 下島圭子, 山本俊至
- Organizer
  第33回日本小児遺伝学会学術集会
- Place of Presentation
  盛岡
- Year and Date
  2010-04-22
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 複数のde novoゲノムコピー数異常が同時に生じることは稀ではない?2010
- Author(s)
  下島圭子, 他3名
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Prader-Willi症候群とSotos症候群の合併例2010
- Author(s)
  岡本伸彦, 秋丸憲子, 松田圭子, 下島圭子, 山本俊至
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  さいたま
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Williams症候群責任領域近傍のYWHAGは点頭てんかんと心肥大の原因となり得る2010
- Author(s)
  蒋池勇太, 下島圭子, 藤井克則, 東浩二, 安川久美, 河野陽一, 大澤真木子, 東中川徹, 山本俊至
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  さいたま
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 染色体検査における事前説明の重要性に関する考察:娘の染色体検査結果の受容が困難であった母親の事例より2010
- Author(s)
  下島圭子, 他3名
- Organizer
  第34回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  東京
- Year and Date
  2010-05-28
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.2010
- Author(s)
  T.Yamamoto, Y.Komoike, K.Shimojima, J-S.Liang, Y.Fujii, Y.Maegaki, M.Osawa, S.Fujii, T.Higashinakagawa
- Organizer
  60th Annual Meeting of American Society of Human Genetics
- Place of Presentation
  Washington DC
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] TULIP1 haploinsufficiency with brain development delay2010
- Author(s)
  Shimojima K, 他12名
- Organizer
  The 60th Annual Meeting ASHG
- Place of Presentation
  Washington DC, USA
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Atypical benign partial epilepsy様のてんかんを呈した8p欠失/重複の2例てんかん責任領域の検討2010
- Author(s)
  中山東城, 青天目信, 中川栄二, 斎藤義朗, 下島圭子, 山本俊至, 奥村恵子, 藤江弘美, 植松貢, 小牧宏文, 須貝研司, 佐々木征行
- Organizer
  第52回日本小児神経学会総会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 17番染色体p13.1領域の微細欠失とゼブラフィッシュによるGABARAP機能解析2010
- Author(s)
  蒋池勇太, 下島圭子, 梁昭鉱, 藤井裕士, 前垣義弘, 大澤真木子, 藤井早紀子, 東中川徹, 山本俊至
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  さいたま
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 染色体検査における事前説明の重要性に関する考察 G-band法でX染色体構造異常を指摘された女児例の遺伝カウンセリングから2010
- Author(s)
  下島圭子, 山本俊至, 浦野真理, 齋藤加代子
- Organizer
  第34回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] ジストロフィン遺伝子を含む6-Mbの欠失を認めたXp21隣接遺伝子症候群の1例2010
- Author(s)
  渡辺美緒, 椎原隆, 片山綾子, 小牧宏文, 下島圭子, 山本俊至
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  さいたま
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] TULIP1のハプロ不全は、発達遅滞と難治性てんかんの原因となる2010
- Author(s)
  下島圭子, 遠山潤, 大津真優, 中川栄二, 後藤雄一, 大野耕策, 小国弘量, 大澤真木子, 山本俊至
- Organizer
  第52回日本小児神経学会総会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 複数のde novoゲノムコピー数異常が同時に生じることは稀ではない?2010
- Author(s)
  山本俊至, 下島圭子, 木部哲也, 横地健治
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  さいたま
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Prader-Willi症候群とソトス症候群の合併例2010
- Author(s)
  下島圭子, 他4名
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  大宮
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] Atypical benign partial epilepsy様のてんかんを呈した8p欠失/9p重複の2例:てんかん責任領域の検討2010
- Author(s)
  下島圭子, 他12名
- Organizer
  第52回日本小児神経学会大会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] ダウン症候群責任領域のハプロ不全による臨床症状2010
- Author(s)
  山本俊至, 下島圭子, 伊藤昌弘, 今井克美
- Organizer
  第52回日本小児神経学会総会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 9q34欠失症候群5例の臨床研究2010
- Author(s)
  岡本伸彦, 山本俊至, 下島圭子.
- Organizer
  第52回日本小児神経学会総会
- Place of Presentation
  福岡
- Data Source
  KAKENHI-PROJECT-22890199
[Presentation] 16q12.2-21微細欠失により精神運動発達遅滞・焦点性てんかん・特徴的所見を示した１男児例.
- Author(s)
  山崎佐和子, 池野観寿, 遠山潤, 下島圭子, 山本俊至.
- Organizer
  第56回日本小児神経学会学術集会
- Place of Presentation
  アクトシティ浜松（静岡県浜松市）
- Year and Date
  2014-05-28 – 2014-05-31
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 乳児良性部分てんかんの遺伝子診断の有用性と課題.
- Author(s)
  三宮範子, 下島圭子, 奥村彰久, 山本俊至.
- Organizer
  第38回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  近畿大学（大阪府東大阪市）
- Year and Date
  2014-06-26 – 2014-06-29
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 非医療系学部学生への遺伝学教育とボランティア体験の重要性～出張講義の感想から見えてきたこと～.
- Author(s)
  下島圭子, 三宮範子, 島田姿野, 影山優子, 沼部博直, 山本俊至.
- Organizer
  第38回日本遺伝カウンセリング学会学術集会
- Place of Presentation
  近畿大学（大阪府東大阪市）
- Year and Date
  2014-06-26 – 2014-06-29
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 7p22.1微細欠失を認め低身長を呈する男児；ACTBハプロ不全との関わり.
- Author(s)
  下島圭子, 奈良井哲, 山本俊至.
- Organizer
  日本人類遺伝学会第59回大会/日本遺伝子診療学会第21回大会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] PRRT2変異による乳児良性部分てんかん患者の遺伝学的特徴.
- Author(s)
  三宮範子, 下島圭子, 奥村彰久, 山本俊至.
- Organizer
  日本人類遺伝学会第59回大会/日本遺伝子診療学会第21回大会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] 精神運動発達遅滞、難聴、耳介変形などCHARGE症候群類似の症状を示した10q26微細欠失の1例.
- Author(s)
  三宮範子, 下島圭子, 酒井規夫, 岡本伸彦, 安藤智博, 山本俊至.
- Organizer
  第54回日本先天異常学会学術集会
- Place of Presentation
  麻布大学（神奈川県相模原市）
- Year and Date
  2014-07-26 – 2014-07-27
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] [シンポジウム疾患iPS細胞]小児難病研究における疾患iPS細胞利用.
- Author(s)
  山本俊至, 下島圭子.
- Organizer
  第87回日本生化学会大会
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2014-10-15 – 2014-10-18
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] PHEPACAMを含む11q23.3-24.2の微細欠失により発症したMegalencephalic leukoencephalopathy with subcortical cyst (MLC).
- Author(s)
  島田姿野, 久保田雅也, 下島圭子, 山本俊至, 永田　智.
- Organizer
  第56回日本小児神経学会学術集会
- Place of Presentation
  アクトシティ浜松（静岡県浜松市）
- Year and Date
  2014-05-28 – 2014-05-31
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] エクソーム解析によりTUBB4Aに点突然変異を認めたPelizaeus-Merzbahcer病類似の先天性白質脳症.
- Author(s)
  下島圭子, 奥村彰久, 池野充, 才津浩智, 松本直通, 山本俊至.
- Organizer
  第54回日本先天異常学会学術集会
- Place of Presentation
  麻布大学（神奈川県相模原市）
- Year and Date
  2014-07-26 – 2014-07-27
- Data Source
  KAKENHI-PROJECT-24791090
[Presentation] PLP1を含むXq22の微細欠失は女児における重度精神運動発達遅滞と行動異常の原因となる.
- Author(s)
  山本俊至, 下島圭子, 荒川千賀子.
- Organizer
  日本人類遺伝学会第59回大会/日本遺伝子診療学会第21回大会
- Place of Presentation
  タワーホール船堀（東京都江戸川区）
- Year and Date
  2014-11-19 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-24791090

1. Honda Arata (10373367)

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# of Collaborated Products: 2 results
2. OGURA Atsuo (20194524)

# of Collaborated Projects: 1 results

# of Collaborated Products: 1 results
3. MATSUDA Osamu (00271164)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. Yamamoto Toshiyuki (20252851)

# of Collaborated Projects: 1 results

# of Collaborated Products: 35 results
5. 山海直 (80300937)

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6. MATSUMOTO Naomichi

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# of Collaborated Products: 5 results
7. MASHIMA Ryuichi

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8. HISHIKAWA Yoshitaka

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9. NAKAMURA Toshinobu

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10. YASUHARA Takao

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11. NAKAYAMA Junko

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12. SHIINA Masaaki

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13. TANAKA Kiyoji

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14. KUBUKI Yohko

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15. SHIDE Kotaro

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16. KAMEDA Takuro

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17. 高梨潤一

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18. 三宅紀子

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19. 廣瀬伸一

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20. 齋藤亮

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21. 蒋池勇太

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22. 井上健

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23. 要匡

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24. 奥村彰久

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25. 池野充

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26. 鶴崎美徳

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27. 吉浦孝一郎

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28. 菅野仁

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29. 前垣義弘

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30. 高橋陽介

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31. 高島康弘

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32. チョウジョウフナランツオツク

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33. 伊川正人

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34. 篠原隆司

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35. 齋藤都暁

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36. 小川誠司

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37. 小林勝弘

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38. 岩崎信明

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39. 瀬戸俊之

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40. 濱崎考史

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41. 緒方一博

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42. 下田和哉

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43. 北中明

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44. 日高智徳

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45. 永瀬裕朗

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Yamamoto-Shimojima keiko 下島 圭子

Yamamoto Keiko 山本 圭子

下島圭子

SHIMOJIMA Keiko 下島 圭子

Research Projects

Research Products

Co-Researchers

Elucidation of the pathophysiology of neurodevelopmental disorders by evaluating nerve cell network functionPrincipal Investigator

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Establishment of heredital desease models using iPS cells and genome editing

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Elucidation of synaptic dysfunctions in patients with developmental disorder

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elucidation of a mechanism of developmental disorder caused genome copy number aberrationPrincipal Investigator

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Gene expression analysis for neuronal cells differenciated from iPS cells generated from patients with Down syndromePrincipal Investigator

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[Book] 新遺伝医学やさしい系統講義19講 第5章 染色体の異常を調べる2019

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[Book] 症例でわかる小児神経疾患の遺伝学的アプローチ2019

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[Book] これならわかる！小児科診療に活かせる遺伝学的検査・診断・遺伝カウンセリングの上手な進めかた2016

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[Book] iPS細胞の安全・高品質な作成技術2016

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[Journal Article] Deep intronic deletion in intron 3 of PLP1 is associated with a severe phenotype of Pelizaeus-Merzbacher disease2021

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[Journal Article] Novel LAMA2 variants identified in a patient with white matter abnormalities2020

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[Journal Article] Establishment of a simple and rapid method to detect <i>MECP2</i> duplications using digital polymerase chain reaction2020

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[Journal Article] Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome2020

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Yamamoto-Shimojima keiko 下島圭子

Yamamoto Keiko 山本圭子

SHIMOJIMA Keiko 下島圭子

[Book] 新遺伝医学やさしい系統講義19講　第5章　染色体の異常を調べる2019