kurosawa kenji 黒澤健司

… Alternative Names

Kurosawa Kenji 黒澤健司

KUROSAWA Kenji 黒沢健司

黒澤健司クロサワケンジ

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Researcher Number	20277031
Other IDs
Affiliation (Current)	2022: 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), 臨床研究所, 臨床研究所長
Affiliation (based on the past Project Information) *help	2015 – 2021: 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), 臨床研究所, 部門長 2014 – 2015: 地方独立行政法人神奈川県立病院機構神奈川県立こども医療センター(臨床研究所), その他部局等, その他 1999 – 2001: 東京慈恵会医科大学, 医学部, 助手 1998: 東京慈恵会医科大学, 医学部・小児科, 助手 1996: 東京慈恵会医科大学, 医学部・小児科, 助手
Review Section/Research Field	Principal Investigator Pediatrics / Pediatrics / Basic Section 52050:Embryonic medicine and pediatrics-related Except Principal Investigator Pediatrics / Pediatrics
Keywords	Principal Investigator マイクロアレイ / エクソーム / 精神遅滞 / 次世代シーケンサー / 先天異常 / アリルスルファターゼA / GST融合蛋白質 / Multiple sulfatase deficiency (MSD) / 線維芽細胞 / SDS-PAGE … More / 異染性白質変性症 / 遺伝子変異 / 臨床表現型 / 異染性脳白質変性症 / ASA / 多発奇形 / 次世代シーケンス / エクソーム解析 / ゲノム支援 / copy number variant / 先天多発奇形 / 遺伝カウンセリング / 遺伝的異質性 / 遺伝子 / ゲノム / エピゲノム / ヒストン / Acetyltransferase / SET / CREBBP / トランスクリプトーム / KAT6B / クロマチン … More Except Principal Investigator MLD / 遺伝子治療 / 神経幹細胞 / Twitcherマウス / Slyマウス / 遺伝子異常 / Sjogren-Larsson / gene therapy / neural stem cell therapy / Twitcher mice / Sly mice / メビウス症候群 / ゲノム解析 / 病因 Less

Defects in histone modification cause phenotypic diversity of congenital malformationsPrincipal Investigator
- Principal Investigator
  
  黒澤健司
- Project Period (FY)
  2020 – 2022
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Kanagawa Children's Medical Center (Clinical Research Institute)
Whole genome analysis of congenital malformationsPrincipal Investigator
- Principal Investigator
  
  Kurosawa Kenji
- Project Period (FY)
  2017 – 2019
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kanagawa Children's Medical Center (Clinical Research Institute)
Clinical and molecular genetic study of elucidation of a cause of Moebius syndrome
- Principal Investigator
  
  MASUNO Mitsuo
- Project Period (FY)
  2015 – 2017
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kawasaki University of Medical Welfare
Genetic and genomic analysis on the patients with multiple congenital anomaliesPrincipal Investigator
- Principal Investigator
  
  Kurosawa Kenji
- Project Period (FY)
  2014 – 2016
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Research Field
  
  Pediatrics
- Research Institution
  Kanagawa Children's Medical Center (Clinical Research Institute)
Molecular Pathogenesis of Brain Damage and Gene Therapy in Genetic Leukodystrophy
- Principal Investigator
  
  ETO Yoshikatsu
- Project Period (FY)
  1999 – 2001
- Research Category
  
  Grant-in-Aid for Scientific Research (B)
- Research Field
  
  Pediatrics
- Research Institution
  The Jikei University Shool of Medicine
MLDノックアウトマウスを用いての脱髄の病態並びに病因に関する研究Principal Investigator
- Principal Investigator
  
  黒澤健司 (黒沢健司)
- Project Period (FY)
  1998 – 1999
- Research Category
  
  Grant-in-Aid for Encouragement of Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  Jikei University School of Medicine
Multiple Sulfatase Deficiencyの分子生物学的病因解明Principal Investigator
- Principal Investigator
  
  黒澤健司
- Project Period (FY)
  1996
- Research Category
  
  Grant-in-Aid for Encouragement of Young Scientists (A)
- Research Field
  
  Pediatrics
- Research Institution
  Jikei University School of Medicine

All 2022 2021 2020 2019 2018 2017 2016 2015 2014 Other

All Journal Article Presentation Book

[Book] ヌーナン症候群のマネジメント2017
- Author(s)
  黒澤健司
- Total Pages
  117
- Publisher
  メディカルレビュー社
- ISBN
- Data Source
  KAKENHI-PROJECT-17K10069
[Book] 別冊日本臨床　No.29.神経症候群（第2版）Ⅳ2014
- Author(s)
  黒澤健司
- Publisher
  日本臨床社
- Data Source
  KAKENHI-PROJECT-26461538
[Journal Article] Divergent variant patterns among 19 patients with <scp>Rubinstein‐Taybi</scp> syndrome uncovered by comprehensive genetic analysis including whole genome sequencing2022
- Author(s)
 Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K
- Journal Title
 
 Clinical Genetics
 
 Volume: 101 Pages: 335-345
- DOI
 10.1111/cge.14103
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-18K07864, KAKENHI-PROJECT-20K08270
[Journal Article] Further delineation of <scp> SET </scp> ‐related intellectual disability syndrome2022
- Author(s)
 Shono Kenta、Enomoto Yumi、Tsurusaki Yoshinori、Kumaki Tatsuro、Masuno Mitsuo、Kurosawa Kenji
- Journal Title
 
 American Journal of Medical Genetics Part A
 
 Volume: 188 Pages: 1595-1599
- DOI
 10.1002/ajmg.a.62681
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-20K08270
[Journal Article] Lung disease due to FLNA mutation improved after shunt closure for congenital heart disease2021
- Author(s)
  Mori Satomi、Tanoue Koji、Shimizu Hiroyuki、Nagafuchi Hiroyuki、Kim Ki‐Sung、Murakami Hiroaki、Kurosawa Kenji、Matsui Kiyoshi
- Journal Title
  
  Pediatric Pulmonology
  
  Volume: 56 Pages: 1280-1282
- DOI
  10.1002/ppul.25269
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08270
[Journal Article] A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 42021
- Author(s)
  Enomoto Yumi、Tsurusaki Yoshinori、Tominaga Makiko、Kobayashi Shinji、Inoue Maki、Fujita Kazutoshi、Kumaki Tatsuro、Murakami Hiroaki、Kurosawa Kenji
- Journal Title
  
  Molecular Syndromology
  
  Volume: - Pages: 1-6
- DOI
  10.1159/000513224
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08270
[Journal Article] Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome2021
- Author(s)
  Murakami Hiroaki、Uehara Tomoko、Enomoto Yumi、Nishimura Naoto、Kumaki Tatsuro、Kuroda Yukiko、Asano Mizuki、Aida Noriko、Kosaki Kenjiro、Kurosawa Kenji
- Journal Title
  
  Molecular Syndromology
  
  Volume: 13 Pages: 75-79
- DOI
  10.1159/000517977
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08270
[Journal Article] 6p21.33 Deletion encompassing CSNK2B is associated with relative macrocephaly, facial dysmorphism, and mild intellectual disability2021
- Author(s)
  Ohashi Ikuko、Kuroda Yukiko、Enomoto Yumi、Murakami Hiroaki、Masuno Mitsuo、Kurosawa Kenji
- Journal Title
  
  Clinical Dysmorphology
  
  Volume: 30 Pages: 139-141
- DOI
  10.1097/mcd.0000000000000372
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08270
[Journal Article] Progression of cerebral and cerebellar atrophy in congenital contractures of limbs and face, hypotonia, and developmental delay2021
- Author(s)
  Kumaki Tatsuro、Enomoto Yumi、Aida Noriko、Goto Tomohide、Kurosawa Kenji
- Journal Title
  
  Pediatrics International
  
  Volume: 64
- DOI
  10.1111/ped.14734
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-20K08270
[Journal Article] Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant2020
- Author(s)
  Nishimura Naoto、Kumaki Tatsuro、Murakami Hiroaki、Enomoto Yumi、Katsumata Kaoru、Toyoshima Katsuaki、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 7
- DOI
  10.1038/s41439-020-00116-8
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-20K08270
[Journal Article] Novel CUL7 biallelic mutations alter the skeletal phenotype of 3M syndrome2020
- Author(s)
  Takizaki Nao、Tsurusaki Yoshinori、Katsumata Kaoru、Enomoto Yumi、Murakami Hiroaki、Muroya Koji、Ishikawa Hiroshi、Aida Noriko、Nishimura Gen、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 7 Pages: 1-1
- DOI
  10.1038/s41439-020-0090-6
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Discordant phenotype caused by CASK mutation in siblings with NF12019
- Author(s)
  Murakami Hiroaki、Kimura Yuichi、Enomoto Yumi、Tsurusaki Yoshinori、Akahira-Azuma Moe、Kuroda Yukiko、Tsuji Megumi、Goto Tomohide、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Pages: 20-20
- DOI
  10.1038/s41439-019-0051-0
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Tumor predisposition in an individual with chromosomal rearrangements of 1q31.2‐q41 encompassing cell division cycle protein 732019
- Author(s)
  Nishimura Naoto、Murakami Hiroaki、Saito Toshiyuki、Masuno Mitsuo、Kurosawa Kenji
- Journal Title
  
  Congenital Anomalies
  
  Volume: - Issue: 4 Pages: 128-130
- DOI
  10.1111/cga.12356
- NAID
  210000157312
- ISSN
  0914-3505, 1741-4520
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10069
[Journal Article] A novel gene ( FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia2019
- Author(s)
  Kuroda Yukiko、Murakami Hiroaki、Enomoto Yumi、Tsurusaki Yoshinori、Takahashi Kazumi、Mitsuzuka Kanako、Ishimoto Hitoshi、Nishimura Gen、Kurosawa Kenji
- Journal Title
  
  Clinical Genetics
  
  Volume: 印刷中 Pages: 713-717
- DOI
  10.1111/cge.13530
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-16K10110, KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL52019
- Author(s)
  Tominaga Makiko、Hamanoue Satoshi、Goto Hiroaki、Saito Toshiyuki、Nagai Jun-ichi、Masuno Mitsuo、Umeda You、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Pages: 36-36
- DOI
  10.1038/s41439-019-0067-5
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069
[Journal Article] Novel USP9X variants in two patients with X-linked intellectual disability2019
- Author(s)
  Tsurusaki Yoshinori、Kuroda Yukiko、Yamanouchi Yasuko、Kondo Eisuke、Ouchi Kazunobu、Kimura Yuichi、Enomoto Yumi、Aida Noriko、Masuno Mitsuo、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Pages: 49-49
- DOI
  10.1038/s41439-019-0081-7
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11‐q12.132019
- Author(s)
  Tominaga Makiko、Saito Toshiyuki、Masuno Mitsuo、Umeda You、Kurosawa Kenji
- Journal Title
  
  Congenital Anomalies
  
  Volume: 60 Issue: 2 Pages: 73-74
- DOI
  10.1111/cga.12346
- NAID
  210000156377
- ISSN
  0914-3505, 1741-4520
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10069
[Journal Article] Tracheal cartilaginous sleeve in patients with Beare‐Stevenson syndrome2019
- Author(s)
  Seki Eijun、Enomoto Keisuke、Tanoue Koji、Tanaka Mio、Kurosawa Kenji
- Journal Title
  
  Congenital Anomalies
  
  Volume: - Issue: 3 Pages: 97-99
- DOI
  10.1111/cga.12352
- NAID
  210000156871
- ISSN
  0914-3505, 1741-4520
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10069
[Journal Article] A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC22019
- Author(s)
  Ohashi Ikuko、Enomoto Yumi、Naruto Takuya、Tsurusaki Yoshinori、Kuroda Yukiko、Ishikawa Hiroshi、Ohyama Makiko、Aida Noriko、Nishimura Gen、Kurosawa Kenji
- Journal Title
  
  Human Genome Variation
  
  Volume: 6 Pages: 40-40
- DOI
  10.1038/s41439-019-0071-9
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy and intellectual disability2019
- Author(s)
  Kuroda Yukiko、Kimura Yuichi、Uehara Tomoko、Kosaki Kenjiro、Kurosawa Kenji
- Journal Title
  
  Congenital Anomalies
  
  Volume: 60 Issue: 2 Pages: 75-77
- DOI
  10.1111/cga.12347
- NAID
  210000156474
- ISSN
  0914-3505, 1741-4520
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10069
[Journal Article] Two unrelated girls with intellectual disability associated with a truncating mutation in the PPM1D penultimate exon2019
- Author(s)
  Kuroda Yukiko、Murakami Hiroaki、Yokoi Takayuki、Kumaki Tatsuro、Enomoto Yumi、Tsurusaki Yoshinori、Kurosawa Kenji
- Journal Title
  
  Brain and Development
  
  Volume: 41 Pages: 538-541
- DOI
  10.1016/j.braindev.2019.02.007
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] A female patient with X‐linked Ohdo syndrome of the Maat‐Kievit‐Brunner phenotype caused by a novel variant of MED122019
- Author(s)
 Murakami Hiroaki、Enomoto Yumi、Tsurusaki Yoshinori、Sugio Yoshitsugu、Kurosawa Kenji
- Journal Title
 
 Congenital Anomalies
 
 Volume: - Issue: 3 Pages: 91-93
- DOI
 10.1111/cga.12350
- NAID
 210000156667
- ISSN
 0914-3505, 1741-4520
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] 希少難病における診断・治療の進歩2018
- Author(s)
  黒澤健司
- Journal Title
  
  こども医療センター医学誌
  
  Volume: 47 Pages: 76-78
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10069
[Journal Article] Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly2018
- Author(s)
  Sato Y, Shibasaki J, Aida N, Hiiragi K, Kimura Y, Akahira-Azuma M, Enomoto Y, Tsurusaki Y, Kurosawa K.
- Journal Title
  
  Hum Genome Var.
  
  Volume: 5 Pages: 4-4
- DOI
  10.1038/s41439-018-0005-y
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A12018
- Author(s)
 Kuroda Yukiko、Ohashi Ikuko、Naruto Takuya、Ida Kazumi、Enomoto Yumi、Saito Toshiyuki、Nagai Jun-ichi、Kurosawa Kenji
- Journal Title
 
 Congenital Anomalies
 
 Volume: 58 Issue: 6 Pages: 191-193
- DOI
 10.1111/cga.12277
- NAID
 50014141736
- ISSN
 0914-3505, 1741-4520
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-17K10069
[Journal Article] Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion2018
- Author(s)
  Kuroda Yukiko、Ohashi Ikuko、Naruto Takuya、Ida Kazumi、Enomoto Yumi、Saito Toshiyuki、Nagai Jun-ichi、Yanagi Sadamitsu、Ueda Hideaki、Kurosawa Kenji
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 63 Pages: 1185-1188
- DOI
  10.1038/s10038-018-0499-7
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-17K10069
[Journal Article] ヤング・シンプソン症候群2018
- Author(s)
  黒澤健司
- Journal Title
  
  新薬と臨床
  
  Volume: 67 Pages: 1371-1374
- Data Source
  KAKENHI-PROJECT-17K10069
[Journal Article] Kabuki症候群（Niikawa-Kuroki症候群）　小児疾患の診断治療基準第5版2018
- Author(s)
  黒澤健司
- Journal Title
  
  小児内科
  
  Volume: 50 Pages: 142-143
- Data Source
  KAKENHI-PROJECT-17K10069
[Journal Article] Novel AMER1 frameshift mutation in a girl with osteopathia striata with cranial sclerosis2018
- Author(s)
 Enomoto Y, Tsurusaki Y, Harada N, Aida N, Kurosawa K.
- Journal Title
 
 Congenital Anomalies
 
 Volume: 印刷中 Issue: 4 Pages: 145-146
- DOI
 10.1111/cga.12258
- ISSN
 0914-3505
- Peer Reviewed / Open Access
- Data Source
 KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms2018
- Author(s)
 Kimura Y, Akahira-Azuma N, Harada N, Enomoto Y, Tsurusaki Y, Kurosawa K.
- Journal Title
 
 Congenital Anomalies
 
 Volume: 印刷中 Issue: 6 Pages: 188-190
- DOI
 10.1111/cga.12273
- ISSN
 0914-3505
- Peer Reviewed
- Data Source
 KAKENHI-PROJECT-17K10069, KAKENHI-PROJECT-17K19536
[Journal Article] A novel UBE2A mutation causes X-linked intellectual disability type Nascimento.2017
- Author(s)
  Tsurusaki Y, Ohashi I, Enomoto Y, Naruto T, Mitsui J, Kurosawa K, Aida N
- Journal Title
  
  Human Genome Variation
  
  Volume: 印刷中
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PROJECT-26461538
[Journal Article] Contiguous gene deletion neighboring TWIST1 identified in a patient with Saethre-Chotzen syndrome associated with neurodevelopmental delay: Possible contribution of HDAC9.2017
- Author(s)
  Shimbo H, Oyoshi T, Kurosawa K.
- Journal Title
  
  Congenital Anomalies
  
  Volume: 印刷中 Issue: 1 Pages: 33-35
- DOI
  10.1111/cga.12216
- ISSN
  0914-3505
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-26461538, KAKENHI-PROJECT-16K10805
[Journal Article] A case of MECP2 duplication syndrome with gonadotropin-dependent precocious puberty.2017
- Author(s)
  Tsuji-Hosokawa A, Matsuda N, Kurosawa K, Kashimada K, Morio T.
- Journal Title
  
  Horm Res Paediatr
  
  Volume: 87 Pages: 271-276
- DOI
  10.1159/000449222
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461538
[Journal Article] Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.2016
- Author(s)
  Yaoita M, Niihori T, Mizuno S, Okamoto N, Hayashi S, Watanabe A, Yokozawa M, Suzumura H, Nakahara A, Nakano Y, Hokosaki T, Ohmori A, Sawada H, Migita O, Mima A, Lapunzina P, Santos-Simarro F, García-Miñaúr S, Ogata T, Kawame H, Kurosawa K, Ohashi H, Inoue S, Matsubara Y, Kure S, Aoki Y.
- Journal Title
  
  Hum Genet
  
  Volume: 135 Pages: 209-22
- DOI
  10.1007/s00439-015-1627-5
- Peer Reviewed / Acknowledgement Compliant / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461538, KAKENHI-PROJECT-25253023, KAKENHI-PROJECT-26670490, KAKENHI-PROJECT-26293241
[Journal Article] Delineation of the KIAA2022 mutation phenotype: Two patients with X-linked intellectual disability and distinctive features.2015
- Author(s)
  Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Wada T, Kurosawa K.
- Journal Title
  
  Ａｍ　Ｊ　Ｍｅｄ　Ｇｅｎｅｔ　Ａ
  
  Volume: 167 Pages: 1349-53
- DOI
  10.1002/ajmg.a.37002
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461538
[Journal Article] West Syndrome in a Patient With Schinzel-Giedion Syndrome.2015
- Author(s)
  Miyake F, Kuroda Y, Naruto T, Ohashi I, Takano K, Kurosawa K.
- Journal Title
  
  J Child Neurol.
  
  Volume: 30 Pages: 932-6
- DOI
  10.1177/0883073814541468
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461538
[Journal Article] Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.2015
- Author(s)
  Kuroda Y, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 167A Pages: 389-393
- DOI
  10.1002/ajmg.a.36813
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461538
[Journal Article] Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).2015
- Author(s)
  Kagami M, Kurosawa K, Miyazaki O, Ishino F, Matsuoka K, Ogata T
- Journal Title
  
  Eur J Hum Genet.
  
  Volume: 2 Pages: 1488-1498
- DOI
  10.1038/ejhg.2015.13
- Peer Reviewed / Acknowledgement Compliant / Open Access
- Data Source
  KAKENHI-PLANNED-22132004, KAKENHI-PROJECT-22227002, KAKENHI-PROJECT-23221010, KAKENHI-PROJECT-26461538, KAKENHI-PROJECT-15K15096, KAKENHI-PUBLICLY-15H01468, KAKENHI-PROJECT-25253023
[Journal Article] A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.2015
- Author(s)
  Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K.
- Journal Title
  
  Ａｍ　Ｊ　Ｍｅｄ　Ｇｅｎｅｔ　Ａ
  
  Volume: 167A Pages: 2223-2225
- DOI
  10.1002/ajmg.a.37135
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461520, KAKENHI-PROJECT-26461538
[Journal Article] Deletion of UBE3A in brothers with Angelman syndrome at the breakpoint with an inversion at 15q11.2.2015
- Author(s)
  Kuroda Y, Ohashi I, Saito T, Nagai JI, Ida K, Naruto T, Wada T, Kurosawa K
- Journal Title
  
  Am J Med Genet A
  
  Volume: 167A Pages: 2873-2878
- DOI
  10.1002/ajmg.a.36704
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] ABL1のrecurrent変異による両側無眼球症の症例2021
- Author(s)
  榎本友美、鶴﨑美徳、黒澤健司
- Organizer
  第61回日本先天異常学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08270
[Presentation] SETおよびSPTAN1を含む9q34.11欠失症候群は知的障害と特徴的顔貌を示す2021
- Author(s)
  黒澤健司、榎本友美、鶴﨑美徳
- Organizer
  第61回日本先天異常学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08270
[Presentation] LARS1遺伝子異常の1例2021
- Author(s)
  上原健史、関衛順、露崎悠、榎本友美、黒澤健司
- Organizer
  第61回日本先天異常学会学術集会
- Data Source
  KAKENHI-PROJECT-20K08270
[Presentation] LMX1B遺伝子変異を低頻度モザイクで持つ無症状の父親を由来として発症したNail-Patella syndromeの1例2021
- Author(s)
  上原健史、関衛順、小澤南、榎本友美、黒澤健司
- Organizer
  第66回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20K08270
[Presentation] CREBBP/EP300の最終エクソンにミスセンス変異を同定したMenke-Hennekam症候群の2症例2021
- Author(s)
  榎本友美、鶴崎美徳、熊木達郎、上原健史、黒澤健司
- Organizer
  第66回日本人類遺伝学会
- Data Source
  KAKENHI-PROJECT-20K08270
[Presentation] 難病の遺伝学的検査の体制2020
- Author(s)
  黒澤健司
- Organizer
  第27回日本遺伝子診療学会大会
- Data Source
  KAKENHI-PROJECT-20K08270
[Presentation] 先天異常の診かたと考え方2020
- Author(s)
  黒澤健司
- Organizer
  第29回日本形成外科学会基礎学術集会
- Invited
- Data Source
  KAKENHI-PROJECT-20K08270
[Presentation] 4p16.3微細欠失の遺伝子型と表現型の相関性に関する検討2020
- Author(s)
  西村直人, 熊木達郎, 村上博昭, 黒澤健司
- Organizer
  第123回日本小児科学会
- Data Source
  KAKENHI-PROJECT-20K08270
[Presentation] Developmental delay and dysmorphic features in a girl with a de novo 5.4 Mb deletion of 13q12.11-q12.13.2019
- Author(s)
  Kurosawa K, Tominaga M, Saito T, Umeda Y, Masuno M.
- Organizer
  第59回日本先天異常学会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] The refinement of 16p13.3 microdeletion syndrome from a case presentation of a girl with epilepsy, intellectual disability, and distinctive dysmorphic features.2019
- Author(s)
  Kuroda Y, Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Uehara T, Kosaki K, Kurosawa K.
- Organizer
  American Society of Human Genetics 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] 先天異常症候群のみかた・考え方2019
- Author(s)
  黒澤健司
- Organizer
  第43回日本口蓋裂学会
- Invited
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] Novel mutation in MT-ND1 m.3955G>A related to neonatal onset Leigh syndrome with spinal lesion.2019
- Author(s)
  Kumaki T, Shimbo H, Goto T, Enomoto Y, Aida N, Murayama K, Nishino I, Goto Y, Kurosawa K.
- Organizer
  American Society of Human Genetics 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] Tracheal cartilaginous sleeve in patients with Beare-Stevenson syndrome.2019
- Author(s)
  Kurosawa K, Seki E, Enomoto K, Tanoue K, Tanaka M.
- Organizer
  American Society of Human Genetics 2019
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] Causative novel USP9X variants in two Japanese patients with X-linked intellectual disability.2018
- Author(s)
  Tsurusaki Y, Kuroda Y, Murakami H, Enomoto Y, Kimura Y, Yamanouchi Y, Kondoh E, Ouchi K, Masuno M, Kurosawa K.
- Organizer
  American Society of Human Genetics 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] 8染色体トリソミーモザイク症候群経過中にベーチェット病様症状（BD）を呈した2例.2018
- Author(s)
  辻真理奈, 豊福悦史, 野澤智, 鹿間芳明, 赤平百絵黒澤健司, 今川智之
- Organizer
  第121回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] Whole exome sequence identified the deletion in 5' UTR or upstream intronic region of CREBBP in a patient with Rubinstein-Taybi syndrome.2018
- Author(s)
  Enomoto Y, Tsurusaki Y, Kuroda Y, Murakami H, Ida K, Umegae M, Harada N, Kimura Y, Naruto T, Kurosawa K
- Organizer
  American Society of Human Genetics 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] 染色体微細構造異常の解析と臨床2018
- Author(s)
  黒澤健司
- Organizer
  第58回日本先天異常学会
- Invited
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] A novel X-linked dominant mutation of MED12 causes Ohdo syndrome in a female patient.2018
- Author(s)
  Murakami H, Kimura Y, Enomoto Y, Tsurusaki Y, Kuroda Y, Sugio Y, Kurosawa K
- Organizer
  American Society of Human Genetics 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] 9q34.11 deletion, including DNM1 and SPTAN1 but lacking STXBP1 causes a distinctive phenotype with intellectual disability, speech delay, and dysmorphic facial features.2018
- Author(s)
  Kurosawa K, Harada N, Saito T, Enomoto Y, Tsurusaki Y, Murakami H, Kuroda Y, Masuno M.
- Organizer
  American Society of Human Genetics 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] 短肋骨異形成症と内臓錯位症候群を合併した一例2018
- Author(s)
  柊一哉、石川浩史、長瀬寛美、望月昭彦、西川智子、鶴崎美徳、黒澤健司
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] 髄鞘化遅延、脳梁低形成を認めFOXG1遺伝子変異が同定された1女児例.2018
- Author(s)
  小林良行, 石川暢恒, 谷博雄, 小林正夫, 兵頭純夫, 黒澤健司
- Organizer
  第121回日本小児科学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] RECQL4遺伝子の日本人由来ホモ欠失をもった患者における表現型の多様性2018
- Author(s)
  榎本友美、鶴崎美徳、黒田友紀子、村上博昭、木村雄一、成戸卓也、下風朋章、黒澤健司
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] PPM1Dのエクソン5に変異を認めた知的障害の一女児例2018
- Author(s)
  黒田友紀子、村上博昭、横井貴之、榎本友美、鶴崎美徳、黒澤健司
- Organizer
  日本人類遺伝学会第63回大会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] カルバマゼピンとアセタゾラミドが有効だった先天性ミオトニア2018
- Author(s)
  市川和志、熊木達郎、山本亜矢子、成健史、露崎悠、辻恵、井合瑞江、山下純正、黒澤健司、後藤知英
- Organizer
  第60回日本小児神経学会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] De novo PHF6 mutation in a girl with Borjeson-Forssman-Lehmann syndrome.2018
- Author(s)
  Kuroda Y, Murakami H, Enomoto Y, Tsurusaki Y, Uehara T, Kosaki K, Kurosawa K
- Organizer
  American Society of Human Genetics 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] Biallelic homozygous mutation of HSPG2 in a patient with dyssegmental dysplasia, Rolland-Desbuquois type.2018
- Author(s)
  Kurosawa K, Shono K, Yokoi T, Harada N, Akahira-Azuma M, Enomoto Y, Tsurusaki Y, Aida N.
- Organizer
  European Human Genetics Conference 2018
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] CASK遺伝子異常による重度精神発達異常を合併した神経線維腫症1型（NF1）の女児例2018
- Author(s)
  村上博昭　黒田友紀子　黒澤健司　辻恵
- Organizer
  第353回日本小児科学会神奈川県地方会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] 各診療科が考えるNoonan症候群マネジメント－小児遺伝科医の立場から2018
- Author(s)
  黒澤健司
- Organizer
  第52回日本小児内分泌学会
- Invited
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] TBL1XR1遺伝子に新規変異を認めた知的障害、自閉スペクトラム症および特異顔貌を示す1症例2017
- Author(s)
  湊川真理、横井貴之、榎本友美、井田一美、鶴崎美徳、原田法彰、成戸卓也、黒澤健司
- Organizer
  第59回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] 同種骨髄移植を行ったcongenital dyserythropoietic anemia II型の一例．2017
- Author(s)
  杉山正仲、浜之上聡、慶野大、宮川直将、林亜揮子、横須賀とも子、岩崎史記、塩味正栄　黒澤健司　後藤裕明
- Organizer
  第120回日本小児科学会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] Familial TAPVR with 15q11.2 (BP1-BP2) microdeletion.2017
- Author(s)
  Kuroda Y, Ohashi I, Naruto T, Ida K, Enomoto Y, Saito T, Nagai J, Kurosawa K.
- Organizer
  American Society of Human Genetics 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] IgAおよびIgG2欠損と小脳虫部萎縮を呈したMECP2重複症候群の1例2017
- Author(s)
  松井秀司、黒澤健司
- Organizer
  第59回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] Microdeletion of 17q21.31 causes a novel malformation syndrome.2017
- Author(s)
  Kurosawa K, Minatogawa M, Yokoi T, Enomoto Y, Ida K, Harada N, Nagai J, Tsurusaki Y.
- Organizer
  American Society of Human Genetics 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] FOXG1遺伝子変異の脳梁形態とその他の画像的特徴についての検討2017
- Author(s)
  露崎悠、市川和志、辻恵、井合瑞江、山下純正、藤井裕太、野澤久美子、相田典子、湊川真理、横井貴之、黒澤健司、富安もよこ、才津浩智、松本直通、後藤知英
- Organizer
  第59回日本小児神経学会学術集会
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] Novel AHDC1 mutations cause intellectual disability and developmental delay.2017
- Author(s)
  Tsurusaki Y, Enomoto Y, Ida K, Kurosawa K.
- Organizer
  American Society of Human Genetics 2017
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-17K10069
[Presentation] Early development of rare tumors in individuals with congenital malformation syndrome.2016
- Author(s)
  Minatogawa M, Iwasaki F, Fukuda K, Hatano C, Yokoi T, Enomoto Y, Ida K, Tsurusaki Y, Harada N, Saitou T, Nagai J, Goto H, Kurosawa K
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Dosage Changes of NIPBL cause various types of neurodevelopmental disability.2016
- Author(s)
  Hatano C, Yokoi T, Enomoto Y, Tsurusaki Y, Saito T, Nagai J, Kurosawa K
- Organizer
  he 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Clinical and neuroimaging findings of an incomplete form of Moebius syndrome2016
- Author(s)
  Mitsuo Masuno, Kiyoshi Matsui, Koji Tanoue, Noriko Aida, Yuta Fujii, Makiko Ohyama, Jun Shibasaki, Yasuko Yamanouchi, Kenji Kurosawa
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  国立京都国際会館（京都府京都市左京区宝ヶ池）
- Year and Date
  2016-04-04
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09607
[Presentation] Structural brain abnormalities associated with deletion at chromosome 2p16.1.2016
- Author(s)
  Shimbo H, Yokoi T, Mizuno S, Suzumura H, Aida N, Nagai J, Ida K, Enomoto Y, Hatano C, Kurosawa K.
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Clinical and neuroimaging findings of an incomplete form of Moebius syndrome2016
- Author(s)
  Mitsuo Masuno, Kiyoshi Matsui, Koji Tanoue, Noriko Aida, Yuta Fujii, Makiko Ohyama, Jun Shibasaki, Yasuko Yamanouchi, Kenji Kurosawa
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  Kyoto International Conference Center, Japan
- Year and Date
  2016-04-04
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-15K09607
[Presentation] Next-generation sequencing identifies novel ARID1B mutations in patients with Coffin-Siris syndrome.2016
- Author(s)
  Tsurusaki Y, Enomoto Y, Yokoi T, Hatano C, Ida K, Kurosawa K
- Organizer
  The 13th International Congress of Human Genetics
- Place of Presentation
  京都国際会議場（京都府京都市）
- Year and Date
  2016-04-03
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 次世代シーケンサー(NGS)を用いて診断したKBG症候群の2例2016
- Author(s)
  中村航、羽田野ちひろ、横井貴之、黒澤健司、榎本友美、鶴崎美徳、原田法彰、永井淳一
- Organizer
  第339回日本小児科学会神奈川県地方会
- Place of Presentation
  神奈川県総合医療会館（神奈川県横浜市中区）
- Year and Date
  2016-03-12
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 次世代シーケンサーにより診断されたKBG症候群の臨床像2016
- Author(s)
  横井貴之、湊川真理、羽田野ちひろ、榎本友美、鶴崎美徳、成戸卓也、小崎健次郎、黒澤健司
- Organizer
  第39回日本小児遺伝学会
- Place of Presentation
  慶應義塾大学（東京都港区）
- Year and Date
  2016-12-09
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 原因不明遺伝子関連疾患におけるゲノム解析の実際2015
- Author(s)
  黒澤健司、羽田野ちひろ、横井貴之
- Organizer
  第337回日本小児科学会神奈川県地方会
- Place of Presentation
  神奈川県総合医療会館（神奈川県横浜市中区）
- Year and Date
  2015-11-28
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] EGFRの機能喪失型変異の複合ヘテロ接合を有する一男児例2015
- Author(s)
  横井貴之、羽田野ちひろ、鶴﨑美徳、榎本友美、成戸卓也、林至恩、小林正久、井田博幸、黒澤健司
- 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-26461538
[Presentation] 次世代シーケンサーを用いた遺伝性疾患におけるコピー数異常の検出．2015
- Author(s)
  横井貴之、大橋育子、黒田友紀子、羽田野ちひろ、榎本友美、成戸卓也、升野光雄、黒澤健司
- 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（千葉県千葉市中央区）
- Year and Date
  2015-06-26
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Genetic analysis of autism spectrum disorder(ASD) based on developed diagnostic flows using next-generation sequencing (NGS).2015
- Author(s)
  Enomoto Y, Yokoi T, Hatano C, Ida K, Naruto T, Kurosawa K.
- Organizer
  米国人類遺伝学会2015
- Place of Presentation
  ボルチモア（米国）
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 遺伝性小児神経領域疾患診断への臨床エクソームの導入2015
- Author(s)
  羽田野ちひろ、横井貴之、渡邊肇子、露崎悠、新保裕子、榎本友美、成戸卓也、大橋育子、黒田友紀子、後藤知英、黒澤健司
- 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（大阪府大阪市北区）
- Year and Date
  2015-05-28
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] CASK truncating変異を有する男児はモザイク例のみ生存しうる2015
- Author(s)
  羽田野ちひろ、横井貴之、黒田友紀子、大橋育子、安西里恵、井合瑞江、黒澤健司
- Organizer
  第118回日本小児科学会学術集会
- Place of Presentation
  大阪国際会議場／リーがロイヤルホテル大阪（大阪府大阪市北区）
- Year and Date
  2015-04-17
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Rubinstein-Taybi症候群の成人例における脳血管障害2015
- Author(s)
  横井貴之、羽田野ちひろ、伊藤進、相田典子、呉繁夫、升野光雄、黒澤健司
- Organizer
  第118回日本小児科学会学術集会
- Place of Presentation
  大阪国際会議場／リーがロイヤルホテル大阪（大阪府大阪市北区）
- Year and Date
  2015-04-17
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Deletion of KIRREL3 causes intellectual disability in Jacobsen syndrome.2015
- Author(s)
  Hatano C, Yokoi T, Enomoto Y, Saito T, Nagai J, Kurosawa K.
- Organizer
  米国人類遺伝学会2015
- Place of Presentation
  ボルチモア（米国）
- Year and Date
  2015-10-06
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 6p21.33 microdeletion associated with EHMT2 haploinsufficiency and intellectual disability.
- Author(s)
  Kurosawa K, Ohashi I, Kuroda Y, Naruto T, Saito T. J Nagai.
- Organizer
  European Human Genetics Conference 2014
- Place of Presentation
  Milan
- Year and Date
  2014-05-31 – 2014-06-02
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 小児科診療における次世代シーケンス解析
- Author(s)
  黒澤健司
- Organizer
  第59回日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2014-11-20 – 2014-11-22
- Invited
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 小児病院の診断における次世代シーケンサーの利用
- Author(s)
  榎本友美、大橋育子、黒田友紀子、羽田野ちひろ、横井貴之、井田一美、成戸卓也、黒澤健司
- Organizer
  第59回日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] Contiguous deletion of CADPS2 and GRM8 associates with severe autism spectrum disorder.
- Author(s)
  Hatano C, Yokoi T, Wakui K, Enomoto K, Kuroda Y, Ohashi I, Kosaki R, Kurosawa K
- Organizer
  American Society of Human Genetics 64th Annual Meeting
- Place of Presentation
  SanDiego
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] 診療における次世代シーケンス解析‐結果のまとめ方と伝え方‐
- Author(s)
  黒澤健司
- Organizer
  第38回日本遺伝カウンセリング学会
- Place of Presentation
  東大阪市
- Year and Date
  2014-06-27 – 2014-06-29
- Invited
- Data Source
  KAKENHI-PROJECT-26461538
[Presentation] メンデル遺伝病エクソーム解析による多発奇形・発達遅滞（MCA / ID・DD ）の解析
- Author(s)
  横井貴之、大橋育子、黒田友紀子、羽田野ちひろ、榎本友美、成戸卓也、升野光雄、井田博幸、黒澤健司
- Organizer
  第59回日本人類遺伝学会
- Place of Presentation
  東京
- Year and Date
  2014-11-20 – 2014-11-22
- Data Source
  KAKENHI-PROJECT-26461538

1. NARUTO Takuya (60438124)

# of Collaborated Projects: 1 results

# of Collaborated Products: 14 results
2. TSURUSAKI Yoshinori (70392040)

# of Collaborated Projects: 1 results

# of Collaborated Products: 16 results
3. ENOMOTO Yumi (20506290)

# of Collaborated Projects: 1 results

# of Collaborated Products: 18 results
4. ETO Yoshikatsu (50056909)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. TSUDA T (50188554)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. OHASHI Toya (60160595)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. IDA Hiroyuki (90167255)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
8. HASEGAWA Yoriyasu (60256435)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
9. MASUNO Mitsuo (00389024)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
10. AIDA Noriko (20586292)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
11. MATSUI Kiyoshi (30601984)

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
12. FUJII Yuta

# of Collaborated Projects: 1 results

# of Collaborated Products: 2 results
13. OGATA Tsutomu

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
14. KAGAMI Masayo

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
15. MATSUBARA Keiko

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
16. NIIHORI Tetsuya

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
17. YAOITA Masako

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
18. 新保裕子

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
19. 石本人士

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
20. 石野史敏

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
21. 石野知子(金児知子)

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
22. 青木洋子

# of Collaborated Projects: 0 results

# of Collaborated Products: 2 results
23. 松原洋一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
24. 井上晋一

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

kurosawa kenji 黒澤 健司

Kurosawa Kenji 黒澤 健司

KUROSAWA Kenji 黒沢 健司

黒澤 健司 クロサワ ケンジ

Research Projects

Research Products

Co-Researchers

Defects in histone modification cause phenotypic diversity of congenital malformationsPrincipal Investigator

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Whole genome analysis of congenital malformationsPrincipal Investigator

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Clinical and molecular genetic study of elucidation of a cause of Moebius syndrome

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Genetic and genomic analysis on the patients with multiple congenital anomaliesPrincipal Investigator

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Molecular Pathogenesis of Brain Damage and Gene Therapy in Genetic Leukodystrophy

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MLDノックアウトマウスを用いての脱髄の病態並びに病因に関する研究Principal Investigator

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Multiple Sulfatase Deficiencyの分子生物学的病因解明Principal Investigator

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[Book] ヌーナン症候群のマネジメント2017

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Total Pages

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ISBN

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[Book] 別冊日本臨床 No.29.神経症候群（第2版）Ⅳ2014

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[Journal Article] Divergent variant patterns among 19 patients with <scp>Rubinstein‐Taybi</scp> syndrome uncovered by comprehensive genetic analysis including whole genome sequencing2022

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[Journal Article] Further delineation of <scp> <i>SET</i> </scp> ‐related intellectual disability syndrome2022

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[Journal Article] Lung disease due to FLNA mutation improved after shunt closure for congenital heart disease2021

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[Journal Article] A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 42021

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[Journal Article] Persistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome2021

kurosawa kenji 黒澤健司

Kurosawa Kenji 黒澤健司

KUROSAWA Kenji 黒沢健司

黒澤健司クロサワケンジ

[Book] 別冊日本臨床　No.29.神経症候群（第2版）Ⅳ2014