Comprehensive analysis for genomic contribution in neuron network and transcripts

• Project/Area Number: 21591334
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Pediatrics
• Research Institution: Tokyo 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
• Project Status: Completed (Fiscal Year 2011)
• Budget Amount: ¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000); Fiscal Year 2011: ¥130,000 (Direct Cost: ¥100,000、Indirect Cost: ¥30,000); Fiscal Year 2010: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000); Fiscal Year 2009: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
• Keywords: 遺伝 / 先天異常学 / ゲノム / ゲノムコピー数 / 中枢神経障害 / fiber-FISH / アレイCGH / 染色体微細欠失 / 染色体重複 / LIS1遺伝子

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

• [Journal Article] Homozygous c. 14576G> A variant of RNF213 predicts early-onset and severe form of moyamoya disease (2012)
  • 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 dyskinesia (2012)
  • 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 syndrome (2012)
  • 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 years (2012)
  • 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
  • NAID: 10030289353
• [Journal Article] 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome (2012)
  • Author(s): Nakayama T, et al
  • Journal Title: Seizure Volume: (in press) Issue: 4 Pages: 295-299
  • DOI: 10.1016/j.seizure.2012.01.002
  • Peer Reviewed
• [Journal Article] Homozygous c. 14576G> A Variant of<I> RNF213</I> Predicts Early-Onset and Severe Form of Moyamoya Disease (2012)
  • Author(s): Miyatake S, Miyake N, Touho H, Nishimura-T, A, Kondo Y, Okada ; I, Tsurusaki ; Y, Doi H, Sakai H, Saitsu ; H, Shimojima K, Yamamoto T, Higurashi M, Kawahara, N, Kawauchi, H, Nagasaka, K, Okamoto N, Mori, T, Koyano S, Kuroiwa Y, Taguri M, Morita S, Matsuba S, Kure S, Matsumoto N
  • Journal Title: Neurology Volume: 78(11) Issue: 11 Pages: 803-10
  • DOI: 10.1212/wnl.0b013e318249f71f
  • Peer Reviewed
• [Journal Article] Growth profiles of 34 patients with Wolf-Hirschhorn syndrome (2012)
  • Author(s): Shimojima, K., et al
  • Journal Title: J Ped 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 years (2012)
  • Author(s): Takahashi I, et al
  • Journal Title: Am J Med Genet A Volume: 158A Issue: 1 Pages: 220-223
  • DOI: 10.1002/ajmg.a.34382
  • Peer Reviewed
• [Journal Article] Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay (2011)
  • 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 analysis (2011)
  • 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 14 (2011)
  • 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 space (2011)
  • 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 PHPV (2011)
  • 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 syndrome (2011)
  • 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 2q24.2q24.3 (2011)
  • Author(s): Yamamoto T, 他6名
  • Journal Title: Epilepsia Volume: 52
  • Peer Reviewed
• [Journal Article] SCN1B is Not Related to Benign Partial Epilepsy in Infancy or Convulsions with Gastroenteritis (2011)
  • Author(s): Yamamoto T, 他5名
  • Journal Title: Neuropediatrics Volume: 42 Pages: 135-137
  • Peer Reviewed
• [Journal Article] 9q22 Deletion-first familial case (2011)
  • Author(s): Yamamoto T, 他7名
  • Journal Title: Orphanet J Rare Dis Volume: 6 Pages: 45-45
  • Peer Reviewed
• [Journal Article] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy (2011)
  • 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 genders (2011)
  • 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 report (2011)
  • 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 myelination (2011)
  • 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 CSF2RB (2011)
  • 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 syndrome (2011)
  • 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 ovale (2011)
  • 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 KCNJ6 (2011)
  • 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
  • NAID: 10030290993
  • 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] Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6 (2011)
  • Author(s): Yamamoto, T., et al
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 1 Pages: 113-119
  • DOI: 10.1002/ajmg.a.33735
  • Peer Reviewed
• [Journal Article] Submicroscopic deletion of 12q13 including HOXC gene cluster with skeletal anomalies and global developmental delay (2011)
  • Author(s): Okamoto, N., et al
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 12 Pages: 2997-3001
  • DOI: 10.1002/ajmg.a.34324
  • Peer Reviewed
• [Journal Article] West Syndrome Associated with Mosaic Duplication of FOXG1 in a Patient with Maternal Uniparental Disomy of Chromosome 14 (2011)
  • Author(s): Tohyama J, Yamamoto T, Hosoki K, Nagasaki K, Akasaka N, Ohashi T, Kobayashi Y, Saitoh S
  • Journal Title: Am J Med Genet Part A Volume: 155 Issue: 10 Pages: 2584-2588
  • DOI: 10.1002/ajmg.a.34224
  • Peer Reviewed
• [Journal Article] Progressive atrophy of the cerebrum in 2 Japanese sisters with microcephaly with simplified gyri and enlarged extraaxial space (2011)
  • Author(s): Hirose M, et al.
  • Journal Title: Neuropediatrics Volume: 42 Issue: 04 Pages: 163-166
  • DOI: 10.1055/s-0031-1287771
  • Peer Reviewed
• [Journal Article] Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome (2011)
  • Author(s): Shimojima, K., et al
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 9 Pages: 2293-2297
  • DOI: 10.1002/ajmg.a.34164
  • Peer Reviewed
• [Journal Article] Refractory neonatal epilepsy with a de novo duplication of chromosome 2q24.2q24.3 (2011)
  • Author(s): Okumura, A., et al
  • Journal Title: Epilepsia Volume: 52 Issue: 7 Pages: e66-e69
  • DOI: 10.1111/j.1528-1167.2011.03139.x
  • Peer Reviewed
• [Journal Article] SCN1B is not related to benign partial epilepsy in infancy or convulsions with gastroenteritis (2011)
  • Author(s): Yamashita, S., et al
  • Journal Title: Neuropediatrics Volume: 42 Issue: 04 Pages: 135-137
  • DOI: 10.1055/s-0031-1285837
  • Peer Reviewed
• [Journal Article] 9q22 Deletion--first familial case (2011)
  • Author(s): Siggberg, L., et al
  • Journal Title: Orphanet J Rare Dis Volume: 6 Issue: 1 Pages: 45-45
  • DOI: 10.1186/1750-1172-6-45
  • Peer Reviewed
• [Journal Article] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy (2011)
  • Author(s): Shimojima, K., et al
  • Journal Title: J Hum Genet Volume: 56 Issue: 8 Pages: 561-565
  • DOI: 10.1038/jhg.2011.58
  • Peer Reviewed
• [Journal Article] Spondylometaphyseal dysplasia with cone-rod dystrophy (2011)
  • Author(s): Kitoh H, Kaneko H, Kondo M, Yamamoto T, Ishiguro N, Nishimura G
  • Journal Title: Am J Med Genet A Volume: 155A(4) Issue: 4 Pages: 845-9
  • DOI: 10.1002/ajmg.a.33898
  • Peer Reviewed
• [Journal Article] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination (2011)
  • Author(s): Shimojima, K., et al
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 4 Pages: 732-736
  • DOI: 10.1002/ajmg.a.33891
  • Peer Reviewed
• [Journal Article] Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB (2011)
  • Author(s): Tanaka, T., et al
  • Journal Title: J Med Genet Volume: 48 Issue: 3 Pages: 205-209
  • DOI: 10.1136/jmg.2010.082586
  • 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 for amen ovale (2011)
  • Author(s): Kibe, T., et al
  • Journal Title: Am J Med Genet A Volume: 155A Issue: 1 Pages: 215-220
  • DOI: 10.1002/ajmg.a.33786
  • Peer Reviewed
• [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
• [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
• [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common β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): 元井奈都紀, ら
  • Journal Title: 分子呼吸器病 Volume: 15 Pages: 106-110
• [Journal Article] Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB. (2011)
  • Author(s): Tanaka T, Motoi N, Tsuchihashi Y, Tazawa R, Kaneko C, Nei T, Yamamoto T, Hayashi T, Tagawa T, Nagayasu T, Kuribayashi F, Ariyoshi K, Nakata K, Morimoto K.
  • Journal Title: J Med Genet Volume: 48 Pages: 205-209
  • Peer Reviewed
• [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, Rothlisb erger 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
• [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
• [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
• [Journal Article] Co-occurrence of Prader-Willi and Sotos syndromes (2010)
  • 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 study (2010)
  • 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 leukomalacia (2010)
  • 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 epilepsy (2010)
  • 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 epileptogenesis (2010)
  • 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 syndrome (2010)
  • 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 ITGB6 (2010)
  • 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 zebrafish (2010)
  • 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 cardiomegaly (2010)
  • 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 duplications (2010)
  • 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 syndrome (2010)
  • 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 population (2010)
  • 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] 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
• [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
• [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
• [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
• [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
• [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
• [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
  • Peer Reviewed
• [Journal Article] Zebrafish gene knockdowns imply roles 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
• [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
  • Peer Reviewed
• [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
• [Journal Article] Interstitial microdeletion of 4p 16.3 : Contribution of WHSC1 haploinsufficiency to the pathogenesis of developmental delay in Wolf-Hirschhorn syndrome. (2010)
  • Author(s): Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K.
  • Journal Title: Am J Med Genet Volume: 152A Pages: 1028-1032
  • Peer Reviewed
• [Journal Article] Serum levels of CA 15-3, KL-6 and BCA225 are positively correlated with each other in general population. (2010)
  • Author(s): Ri G, Ohno S, Yamamoto T, Ito E, Furutani M, Furutani Y, Umeda Y, Tsukahara T, Hagita N, Matsuoka R.
  • Journal Title: Anticancer Research Volume: 29 Pages: 4239-4242
  • Peer Reviewed
• [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
• [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 32 Pages: 171-179
  • Peer Reviewed
• [Journal Article] A familial 593-kb microdeletion of 16p11.2 associated with mental retardation and hemivertebrae (2009)
  • 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 delay (2009)
  • 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 disease (2009)
  • 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 deletion (2009)
  • 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 disorder (2009)
  • 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-CGH (2009)
  • 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 arteries (2009)
  • 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 ossification (2009)
  • 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 delay (2009)
  • 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) syndrome (2009)
  • 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 mutations (2009)
  • Author(s): Yamamoto T, 他4名
  • Journal Title: Yonago Acta Medica Volume: 52 Pages: 57-72
  • Peer Reviewed
• [Journal Article] TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. (2009)
  • Author(s): Shimojima K, Komoike Y, Tohyama J, Takahashi S, Paez MT, Nakagawa E, Goto Y, Ohno K, Ohtsu M, Oguni H, Osawa M, Higashinakagawa T, Yamamoto T
  • Journal Title: Genomics 94 Pages: 414-422
  • Peer Reviewed
• [Journal Article] A familial 593-kb microdeletion of 16p11.2 associated with mental retar dation and hemivertebrae. (2009)
  • Author(s): Shimojima K, Inoue T, Fujii Y, Ohno K, Yamamoto T
  • Journal Title: Eur J Med Genet 52 Pages: 433-435
  • Peer Reviewed
• [Journal Article] ACTA2 is not a major disease-causing gene for moyamoya disease. (2009)
  • Author(s): Shimojima K, Yamamoto T
  • Journal Title: J Hum Genet 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 deletion. (2009)
  • Author(s): Liang J-S, Shimojima K, Ohno K, Sugiura C, Une Y, Ohno K, Yamamoto T
  • Journal Title: J Med Genet 46 Pages: 645-647
  • Peer Reviewed
• [Journal Article] Clinical features of microdeletion 9q22.3 (pat). (2009)
  • Author(s): Shimojima K, Adachi M, Tanaka M, Tanaka Y, Kurosawa K, Yamamoto T
  • Journal Title: Clin Genet 75 Pages: 384-393
  • Peer Reviewed
• [Journal Article] A de novo intra-chromosomal tandem duplication at 22q13.1q13.31 including the Rubinstein-Taybi region but with no bipolar disorder. (2009)
  • Author(s): Shimojima K, Tanaka K, Yamamoto T
  • Journal Title: Am J Med Genet 149A Pages: 1359-1363
  • Peer Reviewed
• [Journal Article] Investigation of the candidate region for trigonocephaly in a patient with monosomy 9p syndrome using array-CGH. (2009)
  • Author(s): Shimojima K, Yamamoto T
  • Journal Title: Am J Med Genet 149A Pages: 1076-1080
  • 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 delay. (2009)
  • Author(s): Shimojima K, Saito K, Yamamoto T
  • Journal Title: Am J Med Genet 149A Pages: 1818-1822
  • Peer Reviewed
• [Journal Article] Proximal interstitial lp36 deletion syndrome : the most proximal 3.5-Mb micro deletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2). (2009)
  • Author(s): Shimojima K, Paez MT, Kurosawa K, Yamamoto T
  • Journal Title: Brain Dev 31 Pages: 629-633
  • Peer Reviewed
• [Journal Article] Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. (2009)
  • Author(s): Arai A, Mitsuhashi S, Saito Y, Komaki H, Sakuma H, Nakagawa E, Sugai K, Sasaki M, Yamamoto T., Robertson SP, Nishimura G, Nonaka I, Nishino I
  • Journal Title: Neuromuscular Disorders 19 Pages: 485-488
  • Peer Reviewed
• [Journal Article] Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome. (2009)
  • Author(s): Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y
  • Journal Title: Am J Med Genet 149A Pages: 1722-1726
  • Peer Reviewed
• [Journal Article] Variations in clinical findings of patients with identical tuberous scleros is gene mutations. (2009)
  • Author(s): Sakurai Y, Saito Y, Nanba E, Yamamoto T, Ohno K
  • Journal Title: Yonago Acta Medica 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)
  • NAID: 10030801902
• [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
• [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: (印刷中)
  • NAID: 10030801902
• [Journal Article] Spondylometaphyseal dysplasia with cone-rod dystrophy A case report.
  • Author(s): Kitoh H, Kaneko H, Nishimura G, Kondo M, Yamamoto T, Ishiguro N.
  • Journal Title: Am J Med Genet Volume: (印刷中)
  • Peer Reviewed
• [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
• [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
• [Journal Article] Zebrafish gene knockdowns imply roles for human YWHAG in infantile spasms and cardiomegaly.
  • Author(s): Komoike Y, Fuju 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 (印刷中)
  • Peer Reviewed
• [Journal Article] Genomic copy number variations at 17p13.3 and epileptogenesis.
  • Author(s): Shimojima K, Sugiura C, Takahashi H, Ikegami M, Takahashi Y, Ohno K, Matsuo M, Saito K, Yamamoto T
  • Journal Title: Epilepsy Res (印刷中)
  • Peer Reviewed
• [Journal Article] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish.
  • Author(s): Komoike Y, Shimojima K, Liang JS, Fujii H, Maegaki Y, Osawa M, Fujii S, Higashinakagawa T, Yamamoto T
  • Journal Title: J Hum Genet (印刷中)
  • Peer Reviewed
• [Journal Article] Phenotypic overlapping of trisomy 12p and Pallister-Killian syndrome.
  • 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 (印刷中)
  • Peer Reviewed
• [Journal Article] Interstitial microdeletion of 4p16.3: Contribution of WHSC1 haploinsufficiency to the pathigenesis of developmental delay in Wolf-Hirshhorn syndrome.
  • Author(s): Izumi K, Okuno H, Maeyama K, Sato S, Yamamoto T, Torii C, Kosaki R, Takahashi T, Kosaki K
  • Journal Title: Am J Med Genet (印刷中)
  • Peer Reviewed
• [Journal Article] Brainstem disconnection associated with nodular heterotopia and proatlantal arteries.
  • Author(s): Okumura A, Lee T, Shimojima K, Hisada K, Shoji H, Takanashi J, Yamamoto T, Shimizu T, Barkovich JA
  • Journal Title: Am J Med Genet (印刷中)
  • Peer Reviewed
• [Presentation] A comprehensive nationwide epidemiological survey for Pelizaeus-Merzbacher disease and associated disorders in Japan (2011)
  • Author(s): Yamamoto T, 他9名
  • Organizer: 12th ICHG
  • Place of Presentation: Montreal
• [Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy (2011)
  • Author(s): Yamamoto T, 他8名
  • Organizer: 12th ICHG
  • Place of Presentation: Montreal
• [Presentation] Skeletal anomalies and severe language disorder with submicroscopic deletion in 12q13 including HOXC cluster (2011)
  • Author(s): Yamamoto T, 他2名
  • Organizer: 12th ICHG
  • Place of Presentation: Montreal
• [Presentation] A novel mutation in GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome (2011)
  • Author(s): Yamamoto T, 他2名
  • Organizer: 12th ICHG
  • Place of Presentation: Montreal
• [Presentation] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination (2011)
  • Author(s): Yamamoto T, 他6名
  • Organizer: 12th ICHG
  • Place of Presentation: Montreal
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [Presentation] 新規微細欠失症候群の確立; 5q31.3 deletion syndrome (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
• [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
• [Presentation] 14q24.3微細欠失によるEIF2B2のunmasked mutationで発症したVanishing White Metter disease (2011)
  • 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
• [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
• [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
• [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
• [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
• [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
• [Presentation] A functional analysis of GABARAP on 17p13.1 by knockdown zebrafish (2011)
  • Author(s): Yamamoto T, 他8名
  • Organizer: The 60th Annual Meeting ASHG
  • Place of Presentation: Washington DC, USA
• [Presentation] A comprehensive nationwide epidemiological survey for Pelizaeus-Merzbacher disease and associated disorders in Japan (2011)
  • Author(s): Inoue, K., et al
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal
• [Presentation] Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy (2011)
  • Author(s): Yamamoto, T., et al
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal
• [Presentation] Skeletal anomalies and severe language disorder with submicroscopic deletion in 12q13 including HOXC cluster (2011)
  • Author(s): Okamoto, N., et al
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal
• [Presentation] A novel mutation in GPC3 gene in a patient with Simpson-Golabi-Behmel syndrome (2011)
  • Author(s): Nishi, E., et al
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal
• [Presentation] A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination (2011)
  • Author(s): Shimojima, K., et al
  • Organizer: 12th International Congress of Human Genetics
  • Place of Presentation: Montreal
• [Presentation] 新規微細欠失症候群の確立;5q31.3 deletion syndrome (2011)
  • Author(s): 下島圭子, ら
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 千葉
• [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
• [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
• [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
• [Presentation] TULIP1 haploinsufficiency with brain development delay (2010)
  • Author(s): Yamamoto T, 他12名
  • Organizer: The 60th Annual Meeting ASHG
  • Place of Presentation: Washington DC, USA
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [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
• [Presentation] 皮質下嚢胞を伴う巨脳性白質脳症の1例 (2010)
  • Author(s): 西村洋子, 豊嶋大作, 戸川雅美, 近藤章子, 前垣義弘, 大野耕策, 山本俊至
  • Organizer: 第52回日本小児神経学会総会
  • Place of Presentation: 福岡
• [Presentation] 顔貌異常、肝硬変、小脳髄を呈した剖検例 (2010)
  • Author(s): 神田祥子, 林雅晴, 渥美聡, 田沼直之, 熊田聡子, 山本俊至
  • Organizer: 第52回日本小児神経学会総会
  • Place of Presentation: 福岡
• [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
• [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
• [Presentation] 先天性大脳白質形成不全症の診断と治療に向けた研究 (2010)
  • Author(s): 井上健, 小坂仁, 黒澤健司, 高梨潤一, 山本俊至, 岩城明子
  • Organizer: 第52回日本小児神経学会総会
  • Place of Presentation: 福岡
• [Presentation] モーニングセミナー先天性大脳白質形成不全症の診断と治療に向けた研究 (2010)
  • Author(s): 井上健, 小坂仁, 黒澤健司, 高梨潤一, 山本俊至, 岩城明子
  • Organizer: 第52回日本小児神経学会総会
  • Place of Presentation: 福岡
• [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
• [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
• [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
• [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
• [Presentation] イブニングセミナー、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
  • 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
• [Presentation] MODY(Maturity-Onset Diabetes of the Young)原因遺伝子領域におけるゲノム構造異常の解析 (2010)
  • Author(s): 滝澤美保, 岩崎直子, 山本俊至, 尾形真規子, 藤巻理沙, 富岡光枝, 岩本安彦
  • Organizer: 第53回日本糖尿病学会年次学術集会
  • Place of Presentation: 岡山
• [Presentation] Diamond Blackfan貧血に関する新規の病因候補遺伝子同定 (2010)
  • Author(s): 菅野仁, 山本俊至, 大賀正一, 立石浩, 濱田貴子, 槍澤大樹, 小倉浩美, 藤井寿一
  • Organizer: 第17回日本遺伝子診療学会大会
  • Place of Presentation: 津
• [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
• [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
• [Presentation] シンポジウム臨床細胞遺伝学領域へのマイクロアレイ技術の導入:わが国の取組みCytogenetic Array解析-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: さいたま
• [Presentation] ランチョンセミナーアレイCGH法が臨床遺伝学にもたらしたもの (2010)
  • Author(s): 山本俊至
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま
• [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
• [Presentation] TULIP1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): 下島圭子, 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
• [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
• [Presentation] MODY原因遺伝子領域における微細ゲノム構造異常の解析 (2010)
  • Author(s): 滝澤美保, 岩崎直子, 山本俊至, 岩本安彦
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま
• [Presentation] ゲノム構造異常を伴うMODY5に認められた表現型の多様性、またはHeterogeneous phenotype associated with MODY5 caused by a genomic rearrangement. (2010)
  • Author(s): 岩崎直子, 滝澤美保, 山本俊至, 斎藤加代子, 尾形真規子, 岩本安彦
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま
• [Presentation] 先天性大脳白質形成不全症:難治性疾患克服事業による希少疾患の統合的研究の推進 (2010)
  • Author(s): 井上健, 岩城明子, 小坂仁, 黒澤健司, 高梨潤一, 出口貴美子, 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
• [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
• [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
• [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20101027-20101030
  • Place of Presentation: さいたま
• [Presentation] 次世代シーケンサーによる遺伝性筋疾患の網羅的遺伝子変異解析 (2010)
  • Author(s): 近藤恵理, 山本俊至, 古川徹, 斎藤加代子
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: さいたま
• [Presentation] TULIP1(RALGAPA1)haploinsufficiency with brain development delay. (2010)
  • 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
• [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
• [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
• [Presentation] Microdeletion and triplication around 17p13 including PAFAH1B/LIS1 in three patients with MR and epilepsy. (2009)
  • Author(s): Yamamoto T, Shimojima K, Sugiura C, Takahashi H, Kubota Y, Takahashi Y, Saito K
  • Organizer: 59th Annual Meeting of American Society of Human genetics
  • Place of Presentation: Honolulu
  • Year and Date: 2009-10-21
• [Presentation] アレイCGH法で明らかになった家族性ゲノムコピー数変化 (2009)
  • Author(s): 山本俊至, 下島圭子, 斎藤加代子
  • Organizer: 日本人類遺伝学会第54回大会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] 22番染色体q11.21-q11.23重複による精神発達遅滞とてんかん (2009)
  • Author(s): 下島圭子, 今井克美, 山本俊至
  • Organizer: 日本人類遺伝学会第54回大会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] MODY症例における原因遺伝子領域のgenomic rearrangementの検索 (2009)
  • Author(s): 滝澤美保, 岩崎直子, 山本俊至, 尾形真規子, 渡辺淳, 鶴見昌史, 浅井邦也, 水野杏一, 岩本安彦
  • Organizer: 日本人類遺伝学会第54回大会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] CADPS2ハプロ不全と広汎性発達障害を合併した1例 (2009)
  • Author(s): 岡本伸彦, 松田圭子, 秋丸憲子, 下島圭子, 山本俊至
  • Organizer: 日本人類遺伝学会第54回大会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] 先天性大脳白質形成不全の全国疫学調査および遺伝子解析研究の推進について (2009)
  • Author(s): 井上健, 小坂仁, 黒澤健司, 高梨潤, 山本俊至, 岩城明子
  • Organizer: 日本人類遺伝学会第54回大会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] 16番染色体短腕モノソミーの同胞例 (2009)
  • Author(s): 松尾真理, 永田仁郎, 山本俊至, 下島圭子, 斎藤加代子, 大澤真木子
  • Organizer: 日本人類遺伝学会第54回大会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] Cerebrocostomandibular syndromeの一女児例 (2009)
  • Author(s): 西恵理子, 山本俊至, 藤巻英彦, 孫田みゆき, 山田恭聖, 水野誠司
  • Organizer: 日本人類遺伝学会第54回大会
  • Place of Presentation: 東京
  • Year and Date: 2009-09-24
• [Presentation] Diamond-Blackfan貧血の病因候補遺伝子探索を目的としたアレイCGH (2009)
  • Author(s): 菅野仁, 山本俊至, 濱田貴子, 斎藤加代子, 槍澤大樹, 藤井寿一
  • Organizer: 第13回日本遺伝子診療学会大会
  • Place of Presentation: 札幌
  • Year and Date: 2009-07-30
• [Presentation] 筋緊張低下と精神発達遅滞を認め、アレイCGH法で3q13.2q13.31の1.9-Mbの中間部欠失を認めた1女児例 (2009)
  • Author(s): 下島圭子, 斎藤加代子, 山本俊至
  • Organizer: 第33回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 西宮
  • Year and Date: 2009-07-24
• [Presentation] 16歳で確定診断に至った21qモノソミーモザイクの一例 (2009)
  • Author(s): 松尾真理, 渥美聡, 下島圭子, 小森穂子, 斎藤加代子, 大澤真木子, 山本俊至
  • Organizer: 第33回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 西宮
  • Year and Date: 2009-07-24
• [Presentation] アレイCGH法によるデジタル染色体解析の進歩 (2009)
  • Author(s): 山本俊至
  • Organizer: 第51回日本小児神経学会総会
  • Place of Presentation: 米子
  • Year and Date: 2009-05-28
• [Presentation] 高密度オリゴアレイCGH法による微細染色体異常診断と遺伝カウンセリング (2009)
  • Author(s): 山本俊至, 下島圭子, 斎藤加代子
  • Organizer: 第112回日本小児科学会学術集会
  • Place of Presentation: 奈良
  • Year and Date: 2009-04-19
• [Presentation] 多発奇形と精神発達遅滞を伴いアレイCGH法により5q31に5Mbの欠失を認めた女児例 (2009)
  • Author(s): 下島圭子, 近藤章子, 坂田晋史, 大野耕策, 山本俊至
  • Organizer: 第112回日本小児科学会学術集会
  • Place of Presentation: 奈良
  • Year and Date: 2009-04-19
• [Presentation] 14番由来のマーカー染色体を持ちWest症候群をきたした14番染色体母性片親性ダイソミーの1例 (2009)
  • Author(s): 遠山潤, 長崎啓祐, 山本俊至, 斉藤伸治
  • Organizer: 第32回日本小児遺伝学会学術集会
  • Place of Presentation: 奈良
  • Year and Date: 2009-04-16
• [Presentation] EP300遺伝子領域の重複はRubinstein-Taybi症候群の臨床症状の一部を生じる (2009)
  • Author(s): 下島圭子, 田中恭子, 山本俊至
  • Organizer: 第32回日本小児遺伝学会学術集会
  • Place of Presentation: 奈良
  • Year and Date: 2009-04-16
• [Presentation] 声帯麻痺が主症状の13番染色体長腕部分欠失の一例 (2009)
  • Author(s): 高野由紀子, 大森意索, 清水光政, 渡邊とよ子, 山本俊至
  • Organizer: 第32回日本小児遺伝学会学術集会
  • Place of Presentation: 奈良
  • Year and Date: 2009-04-16
• [Presentation] Wolf-Hirshhorn症候群責任領域の検討 (2009)
  • Author(s): 奥野博庸, 前山克博, 佐藤清二, 山本俊至, 鳥居千春, 小崎里華, 小崎健次郎
  • Organizer: 第32回日本小児遺伝学会学術集会
  • Place of Presentation: 奈良
  • Year and Date: 2009-04-16
• [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