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2011 Fiscal Year Final Research Report

Comprehensive analysis for genomic contribution in neuron network and transcripts

Research Project

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Project/Area Number 21591334
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionTokyo Women's Medical University

Principal Investigator

YAMAMOTO Toshiyuki  東京女子医科大学, 医学部, 准教授 (20252851)

Project Period (FY) 2009 – 2011
Keywords遺伝 / 先天異常学 / ゲノム
Research Abstract

This study was aimed to clarify the abnormal genome copy number in patients with developmental disorders in children. The impact of the abnormal genomic copy number for the neurological symptoms was investigated. We identified novel genomic copy number aberrations in pediatric patients with neurological disease. In order to identify the genes that were included in the relevant area and affect the development of the central nervous system, we analyzed the expression patterns of the genes in patient-derived cells.

  • Research Products

    (100 results)

All 2012 2011 2010 2009 Other

All Journal Article (58 results) (of which Peer Reviewed: 50 results) Presentation (41 results) Book (1 results)

  • [Journal Article] Homozygous c. 14576G> A variant of RNF213 predicts early-onset and severe form of moyamoya disease2012

    • Author(s)
      Yamamoto T, 他24名
    • Journal Title

      Neurology

      Volume: 78 Pages: 803-10

    • Peer Reviewed
  • [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)
      Yamamoto T, 他7名
    • Journal Title

      Brain Dev

      Volume: 34 Pages: 230-233

    • Peer Reviewed
  • [Journal Article] Growth profiles of 34 patients with Wolf-Hirschhorn syndrome2012

    • Author(s)
      Yamamoto T, 他1名
    • Journal Title

      J Pediatr Genet

      Volume: 1 Pages: 33-37

    • Peer Reviewed
  • [Journal Article] Jacobsen syndrome due to an unbalanced translocation between 11q23 and 22q11.2 identified at age 40 years2012

    • Author(s)
      Yamamoto T, 他4名
    • Journal Title

      Am J Med Genet

      Volume: 158A Pages: 220-223

    • Peer Reviewed
  • [Journal Article] マイクロアレイ染色体検査の臨床応用2012

    • Author(s)
      山本俊至
    • Journal Title

      日小児誌

      Volume: 116 Pages: 32-39

  • [Journal Article] Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay2011

    • Author(s)
      Yamamoto T, 他4名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 2997-3001

    • Peer Reviewed
  • [Journal Article] Tandem configurations of variably duplicated segments of 22q11.2 confirmed by fiber-FISH analysis2011

    • Author(s)
      Yamamoto T, 他3名
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 810-812

    • Peer Reviewed
  • [Journal Article] West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 142011

    • Author(s)
      Yamamoto T, 他7名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 2584-2588

    • Peer Reviewed
  • [Journal Article] Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extra axial space2011

    • Author(s)
      Yamamoto T, 他10名
    • Journal Title

      Neuropediatrics

      Volume: 42 Pages: 163-166

    • Peer Reviewed
  • [Journal Article] Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV2011

    • Author(s)
      Yamamoto T, 他3名
    • Journal Title

      Am J Med Genet A

      Volume: 155A Pages: 1568-1573

    • Peer Reviewed
  • [Journal Article] Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome2011

    • Author(s)
      Yamamoto T, 他2名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 2293-2297

    • Peer Reviewed
  • [Journal Article] Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.32011

    • Author(s)
      Yamamoto T, 他6名
    • Journal Title

      Epilepsia

      Volume: 52 Pages: e66-6e9

    • Peer Reviewed
  • [Journal Article] SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis2011

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Neuropediatrics

      Volume: 42 Pages: 135-137

    • Peer Reviewed
  • [Journal Article] 9q22 Deletion-first familial case2011

    • Author(s)
      Yamamoto T, 他7名
    • Journal Title

      Orphanet J Rare Dis

      Volume: 6 Pages: 45

    • Peer Reviewed
  • [Journal Article] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011

    • Author(s)
      Yamamoto T, 他6名
    • Journal Title

      J Hum Genet

      Volume: 56 Pages: 561-556

    • Peer Reviewed
  • [Journal Article] CDKL5 alterations lead to early epileptic encephalopathy in both genders2011

    • Author(s)
      Yamamoto T, 他17名
    • Journal Title

      Epilepsia

      Volume: 52 Pages: 1835-1842

    • Peer Reviewed
  • [Journal Article] Spondylometphyseal dysplasia with cone-rod dystrophy. A case report2011

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 845-849

    • Peer Reviewed
  • [Journal Article] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination2011

    • Author(s)
      Yamamoto T, 他6名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 732-736

    • Peer Reviewed
  • [Journal Article] Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB2011

    • Author(s)
      Yamamoto T, 他13名
    • Journal Title

      J Med Genet

      Volume: 48 Pages: 117-122

    • Peer Reviewed
  • [Journal Article] Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome2011

    • Author(s)
      Yamamoto T, 他9名
    • Journal Title

      J Med Genet

      Volume: 48 Pages: 117-122

    • Peer Reviewed
  • [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)
      Yamamoto T, 他5名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 215-220

    • Peer Reviewed
  • [Journal Article] Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ62011

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Am J Med Genet

      Volume: 155A Pages: 13-119

    • Peer Reviewed
  • [Journal Article] 次世代シーケンサーによる遺伝子解析2011

    • Author(s)
      山本俊至
    • Journal Title

      小児科

      Volume: 12 Pages: 1591-1597

  • [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, 他1名
    • Journal Title

      東京女子医科大学雑誌

      Volume: 81 Pages: 215-219

    • Peer Reviewed
  • [Journal Article] 先天性大脳白質形成不全症Pelizaeus-Merzbacher病とその類縁疾患2011

    • Author(s)
      山本俊至, 他6名
    • Journal Title

      脳と発達

      Volume: 43 Pages: 435-442

    • Peer Reviewed
  • [Journal Article] 疾患形成における標的分子の役割成人発症のGM-CSF受容体commonβ鎖発現異常による先天性肺胞蛋白症症例の分子機序2011

    • Author(s)
      山本俊至, 他9名
    • Journal Title

      分子呼吸器病

      Volume: 15 Pages: 106-110

  • [Journal Article] iPS細胞の小児神経疾患の病態解析への応用2011

    • Author(s)
      山本俊至, 他1名
    • Journal Title

      脳21

      Volume: 14 Pages: 218-223

  • [Journal Article] 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, 他1名
    • Journal Title

      Epilepsy

      Volume: 5 Pages: 47-52

  • [Journal Article] Co-occurrence of Prader-Willi and Sotos syndromes2010

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 2103-2109

    • Peer Reviewed
  • [Journal Article] STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome. Result of Japanese cohort study2010

    • Author(s)
      Yamamoto T, 他10名
    • Journal Title

      Epilepsia

      Volume: 51 Pages: 2449-2452

    • Peer Reviewed
  • [Journal Article] Altered gene expression in umbilical cord mononuclear cells in preterm infants with periventricular leukomalacia2010

    • Author(s)
      Yamamoto T, 他8名
    • Journal Title

      Early Hum Dev

      Volume: 86 Pages: 665-667

    • Peer Reviewed
  • [Journal Article] A de novo 22q11.22q11.23 interchromosomal tandem duplication in a boy with developmental delay, hyperactivity, and epilepsy2010

    • Author(s)
      Yamamoto T, 他2名
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 2820-2826

    • Peer Reviewed
  • [Journal Article] Genomic copy number variations at 17p13.3 and epileptogenesis2010

    • Author(s)
      Yamamoto T, 他8名
    • Journal Title

      Epilepsy Res

      Volume: 89 Pages: 303-309

    • Peer Reviewed
  • [Journal Article] Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome2010

    • Author(s)
      Yamamoto T, 他9名
    • Journal Title

      Eur J Med Genet

      Volume: 53 Pages: 159-161

    • Peer Reviewed
  • [Journal Article] Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB62010

    • Author(s)
      Yamamoto T, 他7名
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 1020-1025

    • Peer Reviewed
  • [Journal Article] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish2010

    • Author(s)
      Yamamoto T, 他8名
    • Journal Title

      J Hum Genet

      Volume: 55 Pages: 155-162

    • Peer Reviewed
  • [Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly2010

    • Author(s)
      Yamamoto T, 他16名
    • Journal Title

      Genesis

      Volume: 48 Pages: 233-243

    • Peer Reviewed
  • [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)
      Yamamoto T, 他16名
    • Journal Title

      Brain Dev

      Volume: 32 Pages: 171-179

    • Peer Reviewed
  • [Journal Article] Interstitial microdeletion of 4p16.3 : Contribution of WHSC1 haploinsufficiency to the pathigenesis of developmental delay in Wolf-Hirshhorn syndrome2010

    • Author(s)
      Yamamoto T, 他8名
    • Journal Title

      Am J Med Genet

      Volume: 152A Pages: 1028-1032

    • Peer Reviewed
  • [Journal Article] Serum levels of CA15-3, KL-6 and BCA225 are positively correlated with each other in general population2010

    • Author(s)
      Yamamoto T, 他9名
    • Journal Title

      Anticencer Research

      Volume: 29 Pages: 4239-4242

    • Peer Reviewed
  • [Journal Article] アレイCGH法によるデジタル染色体解析における遺伝カウンセリングの重要性2010

    • Author(s)
      山本俊至
    • Journal Title

      日本遺伝カウンセリング学会雑誌

      Volume: 31 Pages: 137-141

  • [Journal Article] アレイCGHによるデジタル染色体解析の進歩と臨床応用2010

    • Author(s)
      山本俊至
    • Journal Title

      脳と発達

      Volume: 42 Pages: 138-143

  • [Journal Article] A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae2009

    • Author(s)
      Yamamoto T, 他4名
    • Journal Title

      Eur J Med Genet

      Volume: 52 Pages: 433-435

    • Peer Reviewed
  • [Journal Article] TULIP1(RALGAPA1) haploinsufficiency with brain development delay2009

    • Author(s)
      Yamamoto T, 他12名
    • Journal Title

      Genomics

      Volume: 94 Pages: 414-422

    • Peer Reviewed
  • [Journal Article] ACTA2 is not a major disease-causing gene for moyamoya disease2009

    • Author(s)
      Yamamoto T, 他1名
    • Journal Title

      J Hum Genet

      Volume: 54 Pages: 687-688

    • Peer Reviewed
  • [Journal Article] A newly recognized microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behavior, short stature, microcephaly, and dysmorphic features : a new patient with 3.2-Mb deletion2009

    • Author(s)
      Yamamoto T, 他6名
    • Journal Title

      J Med Genet

      Volume: 46 Pages: 645-647

    • Peer Reviewed
  • [Journal Article] A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder2009

    • Author(s)
      Yamamoto T, 他2名
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1359-1563

    • Peer Reviewed
  • [Journal Article] Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH2009

    • Author(s)
      Yamamoto T, 他1名
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1076-1080

    • Peer Reviewed
  • [Journal Article] Clinical features of microdeletion 9q22.3(pat)2009

    • Author(s)
      Yamamoto T, 他5名
    • Journal Title

      Clin Genet

      Volume: 75 Pages: 384-393

    • Peer Reviewed
  • [Journal Article] Proximal interstitial 1p36 deletion syndrome : the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2)2009

    • Author(s)
      Yamamoto T, 他3名
    • Journal Title

      Brain Dev

      Volume: 31 Pages: 629-633

    • Peer Reviewed
  • [Journal Article] Brainstem disconnection associated with nodular heterotopia and proatlantal arteries2009

    • Author(s)
      Yamamoto T, 他8名
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 2479-83

    • Peer Reviewed
  • [Journal Article] Nemaline(actin) myopathy with myofibrillar dysgenesis and abnormal ossification2009

    • Author(s)
      Yamamoto T, 他12名
    • Journal Title

      Neuromuscul Disord

      Volume: 19 Pages: 485-458

    • Peer Reviewed
  • [Journal Article] A de novo 1.9-Mb interstitial deletion of 3q13.2q13.31 in a girl with dysmorphic features, muscle hypotonia, and developmental delay2009

    • Author(s)
      Yamamoto T, 他2名
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1818-1822

    • Peer Reviewed
  • [Journal Article] Vertebral fusion in a patient with supernumerary-der(22) t(11 ; 22) syndrome2009

    • Author(s)
      Yamamoto T, 他6名
    • Journal Title

      Am J Med Genet

      Volume: 149A Pages: 1722-1726

    • Peer Reviewed
  • [Journal Article] Variations in clinical findings of patients with identical tuberous sclerosis gene mutations2009

    • Author(s)
      Yamamoto T, 他4名
    • Journal Title

      Yonago Acta Medica

      Volume: 52 Pages: 57-72

    • Peer Reviewed
  • [Journal Article] Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region

    • Author(s)
      Yamamoto T, 他7名
    • Journal Title

      Eur J Med Genet

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome

    • Author(s)
      Yamamoto T, 他12名
    • Journal Title

      Seizure

      Volume: (in press)

    • Peer Reviewed
  • [Journal Article] 疾患の責任遺伝子に関する研究の進歩

    • Author(s)
      山本俊至
    • Journal Title

      脳と発達

      Volume: (in press)

  • [Presentation] 5q31.3新規微細欠失症候群2011

    • Author(s)
      山本俊至, 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
      20111110-12
  • [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, 他8名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] 新規微細欠失症候群の確立; 5q31.3 deletion syndrome2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [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, 他6名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [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)
      山本俊至, 他7名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] Pelizaeus-Merzbacher病患者由来iPS細胞の樹立と病態解析2011

    • Author(s)
      山本俊至, 他8名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] MECP2領域微細重複の4例2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] 新規変異を認めたSimpson-Golabi-Behmel Syndromeの一例2011

    • Author(s)
      山本俊至, 他5名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [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)
      山本俊至, 他17名
    • Organizer
      日本人類遺伝学会第56回大会
    • Place of Presentation
      千葉
    • Year and Date
      20111110-12
  • [Presentation] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish2011

    • Author(s)
      Yamamoto T, 他8名
    • Organizer
      The 60th Annual Meeting ASHG
    • Place of Presentation
      Washington DC, USA
    • Year and Date
      20111102-06
  • [Presentation] A comprehensive nationwide epidemiological survey for Pelizaeus-Merzbacher disease and associated disorders in Japan2011

    • Author(s)
      Yamamoto T, 他9名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Year and Date
      20111011-15
  • [Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy2011

    • Author(s)
      Yamamoto T, 他8名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Year and Date
      20111011-15
  • [Presentation] Skeletal anomalies and severe language disorder with submicroscopic deletion in 12q13 including HOXC cluster2011

    • Author(s)
      Yamamoto T, 他2名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Year and Date
      20111011-15
  • [Presentation] A novel mutation in GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome2011

    • Author(s)
      Yamamoto T, 他2名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Year and Date
      20111011-15
  • [Presentation] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination2011

    • Author(s)
      Yamamoto T, 他6名
    • Organizer
      12th ICHG
    • Place of Presentation
      Montreal
    • Year and Date
      20111011-15
  • [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)
      山本俊至, 他1名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      20110526-28
  • [Presentation] 先天性大脳白質形成不全症の診断基準と疾患分類の作成2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [Presentation] Pelizaeus-Merzbacher病患者由来iPS細胞の樹立と病態解析2011

    • Author(s)
      山本俊至, 他8名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [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)
      山本俊至, 他11名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [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, 他2名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [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, 他3名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [Presentation] 皮質下嚢胞を伴う巨脳性白質脳症の1例2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [Presentation] 先天性大脳白質形成不全症の統合的研究の推進2011

    • Author(s)
      山本俊至, 他6名
    • Organizer
      第53回日本小児神経学会総会
    • Place of Presentation
      横浜
    • Year and Date
      20110526-28
  • [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, 他9名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      20110415-17
  • [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)
      山本俊至, 他3名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      20110415-17
  • [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)
      山本俊至, 他8名
    • Organizer
      第114回日本小児科学会学術集会
    • Place of Presentation
      東京
    • Year and Date
      20110415-17
  • [Presentation] ランチョン;アレイCGH法が臨床遺伝にもたらしたもの2010

    • Author(s)
      山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [Presentation] シンポジウム. Cytogenetic Array-国内の取り組み-. Cytogenetic Array-結果解釈の重要性2010

    • Author(s)
      山本俊至
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [Presentation] Prader-Willi症候群とソトス症候群の合併例2010

    • Author(s)
      山本俊至, 他4名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [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, 他3名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [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)
      山本俊至, 他12名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [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)
      山本俊至, 他8名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [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)
      山本俊至, 他9名
    • Organizer
      日本人類遺伝学会第55回大会
    • Place of Presentation
      大宮
    • Year and Date
      20101125-27
  • [Presentation] TULIP1 haploinsufficiency with brain development delay2010

    • Author(s)
      Yamamoto T, 他12名
    • Organizer
      The 60th Annual Meeting ASHG
    • Place of Presentation
      Washington DC, USA
    • Year and Date
      20101102-06
  • [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, 他3名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Year and Date
      20100520-22
  • [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)
      山本俊至, 他8名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Year and Date
      20100520-22
  • [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)
      山本俊至, 他12名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Year and Date
      20100520-22
  • [Presentation] 9q34欠失症候群5例の臨床研究2010

    • Author(s)
      山本俊至, 他2名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Year and Date
      20100520-22
  • [Presentation] 点頭てんかんを発症したWilliams症候群の2症例2010

    • Author(s)
      山本俊至, 他8名
    • Organizer
      第52回日本小児神経学会大会
    • Place of Presentation
      福岡
    • Year and Date
      20100520-22
  • [Presentation] アレイCGHによるデジタル染色体解析における遺伝カウンセリングの重要性2010

    • Author(s)
      山本俊至
    • 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
  • [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)
      山本俊至, 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
  • [Book] 臨床遺伝に関わる人のためのマイクロアレイ染色体検査2012

    • Author(s)
      山本俊至
    • Total Pages
      306
    • Publisher
      診断と治療社

URL: 

Published: 2013-07-31  

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