Hayashi Shin 林深

… Alternative Names

HAYASHI Shin 林深

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Researcher Number	50596244
Other IDs
Affiliation (Current)	2025: 愛知県医療療育総合センター発達障害研究所, 遺伝子医療研究部, 部長
Affiliation (based on the past Project Information) *help	2021 – 2024: 愛知県医療療育総合センター発達障害研究所, 遺伝子医療研究部, 部長 2011 – 2014: 東京医科歯科大学, 硬組織疾患ゲノムセンター, 特任講師
Review Section/Research Field	Principal Investigator Basic Section 52050:Embryonic medicine and pediatrics-related / Medical genome science / Pediatrics Except Principal Investigator Basic Section 57060:Surgical dentistry-related / Basic Section 52050:Embryonic medicine and pediatrics-related
Keywords	Principal Investigator i-GONAD / てんかん / 先天異常疾患 / 知的障害 / 多相遺伝 / モデルマウス / 病的意義の不明なゲノム変異 / 遺伝性疾患 / ゲノム医学 / 発達障害 … More / 臨床遺伝学 / 疾患モデルマウス / VUS / ゲノム編集 / 次世代シークエンサー / 疾患コホート / 疾患関連遺伝子 / 小脳脳幹部低形成 / 小頭症 / MICPCH / CASK / 遺伝・先天異常学 / 疾患原因遺伝子 / 発達遅滞 / アレイCGH / 新規症候群 / 先天異常学 / 遺伝 … More Except Principal Investigator 顎骨骨幹異形成症 / MERS / オリゴデンドロサイト / 急性脳症 / 可逆性脳梁膨大部病変 / MYRF Less

MYRF遺伝子による可逆性大脳白質障害と発熱時異常言動の病態解明
- Principal Investigator
  
  倉橋宏和
- Project Period (FY)
  2024 – 2027
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Aichi Medical University
Investigation of pleiotropic etiology of epilepsy by generating rapid and precise gene-edited mousePrincipal Investigator
- Principal Investigator
  
  林深
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Institute for Developmental Research Aichi Developmental Disability Center
Fundamental research aimed at elucidating the pathogenesis and proliferation mechanisms underlying ossifying fibroma in gnathodiaphyseal dysplasia
- Principal Investigator
  
  原園陽介
- Project Period (FY)
  2024 – 2026
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 57060:Surgical dentistry-related
- Research Institution
  Tokyo Medical and Dental University
Estimation of variant of uncertain significant (VUS) identified in genetic disorders by rapid preparation of model micePrincipal Investigator
- Principal Investigator
  
  林深
- Project Period (FY)
  2021 – 2024
- Research Category
  
  Grant-in-Aid for Scientific Research (C)
- Review Section
  
  Basic Section 52050:Embryonic medicine and pediatrics-related
- Research Institution
  Institute for Developmental Research Aichi Developmental Disability Center
Investigation of comprehensive etiology of microcephaly with pontocerebellar hypoplasia (MICPCH)Principal Investigator
- Principal Investigator
  
  HAYASHI Shin
- Project Period (FY)
  2013 – 2014
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Medical genome science
- Research Institution
  Tokyo Medical and Dental University
Establishment of a novel syndrome caused by common genomic aberration and investigation of the etiologyPrincipal Investigator
- Principal Investigator
  
  HAYASHI Shin
- Project Period (FY)
  2011 – 2012
- Research Category
  
  Grant-in-Aid for Young Scientists (B)
- Research Field
  
  Pediatrics
- Research Institution
  Tokyo Medical and Dental University

All 2023 2022 2015 2014 2013 2012 2011 Other

All Journal Article Presentation

[Journal Article] Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat?Wilson syndrome2023
- Author(s)
  Suzuki Yasuyo、Nomura Noriko、Yamada Kenichiro、Yamada Yasukazu、Fukuda Ayumi、Hoshino Kyoko、Abe Shinpei、Kurosawa Kenji、Inaba Mie、Mizuno Seiji、Wakamatsu Nobuaki、Hayashi Shin
- Journal Title
  
  European Journal of Medical Genetics
  
  Volume: 66 Issue: 12 Pages: 104882-104882
- DOI
  10.1016/j.ejmg.2023.104882
- Peer Reviewed / Open Access / Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07289, KAKENHI-PROJECT-21K07880
[Journal Article] Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent2015
- Author(s)
  Hayashi S, Yagi M, Morisaki I, Inazawa J
- Journal Title
  
  Journal of Human Genetics
  
  Volume: 60 Issue: 4 Pages: 203-206
- DOI
  10.1038/jhg.2014.123
- NAID
  40020433166
- Peer Reviewed / Acknowledgement Compliant
- Data Source
  KAKENHI-PROJECT-25830135
[Journal Article] Genetic variants in C5 and poor response to eculizumab.2014
- Author(s)
  Nishimura J, Inazawa J, et al.
- Journal Title
  
  N Engl J Med.
  
  Volume: 370 Issue: 7 Pages: 632-9
- DOI
  10.1056/nejmoa1311084
- Peer Reviewed / Open Access
- Data Source
  KAKENHI-PLANNED-22134002, KAKENHI-PROJECT-25250019, KAKENHI-PROJECT-25461431, KAKENHI-PROJECT-25640062, KAKENHI-PROJECT-25830135
[Journal Article] Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations2014
- Author(s)
  2.Matsumoto H, Zaha K, Nakamura Y, Hayashi S, Inazawa J, Nonoyama S
- Journal Title
  
  Pediatr Neurol
  
  Volume: 51 Issue: 1 Pages: 170-175
- DOI
  10.1016/j.pediatrneurol.2014.03.013
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-25830135
[Journal Article] Xq28重複症候群2013
- Author(s)
  林深，稲澤讓治
- Journal Title
  
  小児科臨床
  
  Volume: 66 Pages: 1290-1296
- Data Source
  KAKENHI-PROJECT-25830135
[Journal Article] The incidence of hypoplasia of the corpus callosum in patients with dup(X)(q28) involving MECP2 is associated with the location of distal breakpoints.2012
- Author(s)
  Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Kubota T, Nakagawa E, Goto Y, Inazawa J.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 158A Pages: 1292-303
- Data Source
  KAKENHI-PROJECT-23791155
[Journal Article] Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midfacial hypoplasia.2012
- Author(s)
  Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J.
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Pages: 191-196
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791155
[Journal Article] Japanese Mental Retardation Consortium. Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation2012
- Author(s)
  Honda S, Satomura S, Hayashi S, Imoto I, Nakagawa E, Goto Y, Inazawa J
- Journal Title
  
  J Hum Genet
  
  Volume: 57(1) Issue: 1 Pages: 73-77
- DOI
  10.1038/jhg.2011.131
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390325, KAKENHI-PROJECT-23650406, KAKENHI-PROJECT-23791155
[Journal Article] Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)2012
- Author(s)
  Hayashi S, Okamoto N, Chinen Y, Takanashi JI, Makita Y, Hata A, Imoto I, Inazawa J
- Journal Title
  
  Hum Genet
  
  Volume: 131(1) Issue: 1 Pages: 99-110
- DOI
  10.1007/s00439-011-1047-0
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390325, KAKENHI-PROJECT-23791155
[Journal Article] Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations.2012
- Author(s)
  Takanashi J, Okamoto N, Yamamoto Y, Hayashi S, Arai H, Takahashi Y, Maruyama K, Mizuno S, Shimakawa S, Ono H, Oyanagi R, Kubo S, Barkovich AJ, Inazawa J.
- Journal Title
  
  Am J Med Genet A.
  
  Volume: 158A Issue: 12 Pages: 3112-8
- DOI
  10.1002/ajmg.a.35640
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791155, KAKENHI-PROJECT-24591537
[Journal Article] Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion2012
- Author(s)
  Okamoto N, Hayashi S, Masui A, Kosaki R, Oguri I, Hasegawa T, Imoto I, Makita Y, Hata A, Moriyama K, Inazawa J
- Journal Title
  
  J Hum Genet
  
  Volume: 57(3) Issue: 3 Pages: 191-196
- DOI
  10.1038/jhg.2011.154
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23390325, KAKENHI-PROJECT-23390471, KAKENHI-PROJECT-23650406, KAKENHI-PROJECT-23659963, KAKENHI-PROJECT-23791155
[Journal Article] Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)2012
- Author(s)
  Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J.
- Journal Title
  
  Hum Genet
  
  Volume: 131 Pages: 99-110
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791155
[Journal Article] Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.2012
- Author(s)
  Honda S, Satomura S, Hayashi S, Imoto I, Nakagawa E, Goto Y, Inazawa J, Japanese Mental Retardation Consortium.
- Journal Title
  
  J Hum Genet
  
  Volume: 57 Pages: 73-77
- NAID
  10030662505
- Peer Reviewed
- Data Source
  KAKENHI-PROJECT-23791155
[Journal Article] アレイCGHを用いた先天異常疾患の網羅的ゲノム異常解析と疾患原因遺伝子の探索2011
- Author(s)
  林深，稲澤讓治，蒔田芳男
- Journal Title
  
  小児科
  
  Volume: 52 Pages: 1583-1590
- Data Source
  KAKENHI-PROJECT-23791155
[Journal Article] Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies2011
- Author(s)
  Hayashi S, Imoto I, Aizu Y, Okamoto N, Mizuno S, Kurosawa K, Okamoto N, Honda S, Araki S, Mizutani S, Numabe H, Saitoh S, Kosho T, Fukushima Y, Mitsubuchi H, Endo F, Chinen Y, Kosaki R, Okuyama T, Ohki H, Yoshihashi H, Ono M, Takada F, Ono H, Yagi M, Matsumoto H, Makita Y, Hata A, Inazawa J
- Journal Title
  
  J Hum Genet
  
  Volume: 56 Issue: 2 Pages: 110-124
- DOI
  10.1038/jhg.2010.129
- Data Source
  KAKENHI-PROJECT-21591306, KAKENHI-PROJECT-23791155
[Presentation] Analysis of variant of uncertain significance (VUS) in genetic disorder by rapid generation of transgenic mice by iGONAD2023
- Author(s)
  Shin Hayashi, Yasuyo Suzuki, Kimiko Kato, Daisuke Fukushi, Kenichiro Yamada
- Organizer
  The 67th European Human Genetics Conference
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07880
[Presentation] Rapid generation of transgenic mouse mimicking variant of uncertain significance (VUS) clarifies its pathogenicity.2023
- Author(s)
  Hayashi S, Suzuki Y, Fukushi D, Yamada K, Miyahara H.
- Organizer
  68th Annual Meeting of the Japan Society of Human Genetics/Human Genome Asia 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07880
[Presentation] iGONAD法を用いた正確かつ迅速なモデルマウスの作製による遺伝性疾患における臨床的意義不明なゲノムバリアント (VUS)の病態理解．2023
- Author(s)
  林深, 鈴木康予, 福士大輔, 山田憲一郎, 宮原弘明．
- Organizer
  第46回日本分子生物学会年会
- Data Source
  KAKENHI-PROJECT-21K07880
[Presentation] ゲノム編集を用いたモデルマウス作出により知的障害に見出される臨床的意義の不明なゲノムバリアント (VUS)を解釈する．2023
- Author(s)
  林深，鈴木康予，古川祐子，福士大輔，山田憲一郎，宮原弘明．
- Organizer
  第58回中部日本小児科学会
- Data Source
  KAKENHI-PROJECT-21K07880
[Presentation] Rapid generation of transgenic mouse mimicking variant of uncertain significance (VUS) clarifies its pathogenicity.2023
- Author(s)
  Hayashi S, Suzuki Y, Fukushi D, Yamada K, Miyahara H
- Organizer
  The American Society of Human Genetics annual meeting 2023
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07880
[Presentation] Analysis of variant of uncertain significance (VUS) in genetic disorder by rapid generation of transgenic mice by iGONAD.2023
- Author(s)
  Suzuki Y, Fukushi D, Yamada K, Miyahara H, Hayashi S.
- Organizer
  The European Society of Human Genetics 2023 meeting
- Int'l Joint Research
- Data Source
  KAKENHI-PROJECT-21K07880
[Presentation] Analysis of variant of uncertain significance (VUS) in genetic disorder by rapid generation of transgenic mice by iGONAD.2022
- Author(s)
  林深, 鈴木康予, 加藤君子, 山田憲一郎
- Organizer
  日本人類遺伝学会第67回大会
- Data Source
  KAKENHI-PROJECT-21K07880
[Presentation] 小脳脳幹部低形成を伴う小頭症 (MICPCH)41例に対するCASK遺伝子その他の包括的疾患原因探索．2014
- Author(s)
  林深，岡本伸彦，高梨潤一，稲澤譲治
- Organizer
  日本人類遺伝学会59回大会
- Place of Presentation
  東京
- Year and Date
  2014-11-21
- Data Source
  KAKENHI-PROJECT-25830135
[Presentation] ゲノム解析が明らかにしてきた顎顔面奇形の病態2014
- Author(s)
  林深，稲澤譲治
- Organizer
  第54回日本先天異常学会学術集会
- Place of Presentation
  相模原、神奈川
- Year and Date
  2014-07-26
- Invited
- Data Source
  KAKENHI-PROJECT-25830135
[Presentation] 小脳脳幹部低形成 (MICPCH)の原因となる多彩な病態の探索．2013
- Author(s)
  林深，岡本伸彦，高梨潤一，稲澤譲治
- Organizer
  日本人類遺伝学会58回大会
- Place of Presentation
  仙台
- Data Source
  KAKENHI-PROJECT-25830135
[Presentation] Investigation of CASK gene aberrations in 38 patients with severe intellectual disability, microcephaly and disproportionate pontine and cerebellar hypoplasia.2013
- Author(s)
  Hayashi S, Nobuhiko O, Takanashi J, Inazawa J.
- Organizer
  The American Society of Human Genetics 63rd annual meeting
- Place of Presentation
  Boston
- Data Source
  KAKENHI-PROJECT-25830135
[Presentation] 重度精神遅滞を呈する男児例に同時に見られたMECP2,ATRXの重複2012
- Author(s)
  林深,本田尚三,里村茂子,井本逸勢,中川栄二,後藤雄一,稲澤譲治.
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Year and Date
  2012-10-26
- Data Source
  KAKENHI-PROJECT-23791155
[Presentation] 高解像度アレイを用いたpathogenicCNVを付加的に修飾する微細CNVの探索2012
- Author(s)
  林深,Daniela Tiaki Uehara,長縄光代,稲澤譲治.
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Year and Date
  2012-10-27
- Data Source
  KAKENHI-PROJECT-23791155
[Presentation] Investigation of the Parental Origin and Genomic Mechanisms Involved in de novo Pathogenic CNVs in Congenital Disorders2012
- Author(s)
  Hayashi S
- Organizer
  The American Society of Human Genetics 62nd
- Place of Presentation
  San Francisco, USA
- Data Source
  KAKENHI-PROJECT-23791155
[Presentation] Investigation of the Parental Origin and Genomic Mechanisms Involved in de novo Pathogenic CNVs in Congenital Disorders2012
- Author(s)
  Hayashi S, Naganawa M, Uehara DT, Inazawa J.
- Organizer
  The American Society of Human Genetics 62nd annual meeting
- Place of Presentation
  San Fransisco
- Data Source
  KAKENHI-PROJECT-23791155
[Presentation] オリゴアレイ・SNPアレイを用いた先天異常疾患症例におけるゲノム異常評価とアレイポテンシャルの比較2011
- Author(s)
  林深,Daniela Chiaki Uehara,長縄光代,井本逸勢,蒔田芳男,羽田明,稲澤譲治.
- Organizer
  日本人類遺伝学会第56回大会
- Place of Presentation
  千葉
- Year and Date
  2011-11-10
- Data Source
  KAKENHI-PROJECT-23791155
[Presentation] オリゴアレイ・SNPアレイを用いた先天異常疾患症例におけるゲノム異常評価とアレイポテンシャルの比較2011
- Author(s)
  林深，Daniela Chiaki Uehara，長縄光代，井本逸勢，蒔田芳男，羽田明，稲澤譲治
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-23791155
[Presentation] Pathogenic CNVs and causative genes detected by two-stage screening in647 patients with mental retardation andmultiple congenital anomalies of unknown etiology2011
- Author(s)
  Hayashi S, Imoto I, Makita Y, Hata A, Inazawa J.
- Organizer
  12th International Congress of Human Genetics / The American Society of Human Genetics 61st annual meeting
- Place of Presentation
  Montereal
- Data Source
  KAKENHI-PROJECT-23791155
[Presentation] Pathogenic CNVs and causative genes detected by two-stage screening in 647 patients with mental retardation and multiple congenital anomalies of unknown etiology.2011
- Author(s)
  Hayashi S, Imoto I, Makita Y, Hata A, Inazawa J.
- Organizer
  12th International Congress of Human Genetics / The American Society of Human Genetics 61st annual meeting
- Place of Presentation
  Montreal, Canada
- Data Source
  KAKENHI-PROJECT-23791155
[Presentation] BACアレイ・SNPアレイを用いた日系ブラジル人100家系のトリオ解析による日本人健常者CNVデータベースの構築2011
- Author(s)
  林深，長縄光代，Daniela Chiaki Uehara，井本逸勢，稲澤譲治
- Organizer
  日本人類遺伝学会第55回大会
- Place of Presentation
  千葉
- Data Source
  KAKENHI-PROJECT-23791155
[Presentation] Comprehensive investigation of CASK and other relevant genes in 41 patients with intellectual disability, microcephaly and disproportionate pontine and cerebellar hypoplasia (MICPCH) using next-generation sequencing
- Author(s)
  Hayashi S, Okamoto N, Takanashi J, Inazawa J
- Organizer
  The American Society of Human Genetics 64th annual meeting
- Place of Presentation
  San Diego, CA, USA
- Year and Date
  2014-10-18 – 2014-10-22
- Data Source
  KAKENHI-PROJECT-25830135
[Presentation] 重度精神遅滞を呈する男児例に同時に見られたMECP2, ATRXの重複
- Author(s)
  林深
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23791155
[Presentation] 高解像度アレイを用いたpathogenic CNVを付加的に修飾する微細CNVの探索
- Author(s)
  林深
- Organizer
  日本人類遺伝学会第57回大会
- Place of Presentation
  東京
- Data Source
  KAKENHI-PROJECT-23791155

1. 倉橋宏和 (30621817)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
2. 岡田洋平 (30383714)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
3. 奥村彰久 (60303624)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
4. 荻朋男 (80508317)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
5. 宮原弘明 (00457615)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
6. 原園陽介 (90845364)

# of Collaborated Projects: 1 results

# of Collaborated Products: 0 results
7. SUZUKI Yasuyo

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
8. 橘逸勢

# of Collaborated Projects: 0 results

# of Collaborated Products: 3 results
9. 稲澤譲治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results
10. 斉藤伸治

# of Collaborated Projects: 0 results

# of Collaborated Products: 1 results

Hayashi Shin 林 深

HAYASHI Shin 林 深

Research Projects

Research Products

Co-Researchers

MYRF遺伝子による可逆性大脳白質障害と発熱時異常言動の病態解明

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Investigation of pleiotropic etiology of epilepsy by generating rapid and precise gene-edited mousePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Fundamental research aimed at elucidating the pathogenesis and proliferation mechanisms underlying ossifying fibroma in gnathodiaphyseal dysplasia

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Estimation of variant of uncertain significant (VUS) identified in genetic disorders by rapid preparation of model micePrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Review Section

Research Institution

Investigation of comprehensive etiology of microcephaly with pontocerebellar hypoplasia (MICPCH)Principal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

Establishment of a novel syndrome caused by common genomic aberration and investigation of the etiologyPrincipal Investigator

Principal Investigator

Project Period (FY)

Research Category

Research Field

Research Institution

[Journal Article] Pathogenicity evaluation of variants of uncertain significance at exon-intron junction by splicing assay in patients with Mowat?Wilson syndrome2023

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent2015

Author(s)

Journal Title

DOI

NAID

Data Source

[Journal Article] Genetic variants in C5 and poor response to eculizumab.2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations2014

Author(s)

Journal Title

DOI

Data Source

[Journal Article] Xq28重複症候群2013

Author(s)

Journal Title

Data Source

[Journal Article] The incidence of hypoplasia of the corpus callosum in patients with dup(X)(q28) involving MECP2 is associated with the location of distal breakpoints.2012

Author(s)

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[Journal Article] Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midfacial hypoplasia.2012

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[Journal Article] Japanese Mental Retardation Consortium. Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation2012

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[Journal Article] Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH)2012

Hayashi Shin 林深

HAYASHI Shin 林深