若松延昭 (Nobuaki Wakamatsu) - マイポータル

基本情報

所属: 愛知県心身障害者コロニー発達障害研究所遺伝学部部長

学位: 医学博士

J-GLOBAL ID: 200901061206953737
researchmap会員ID: 5000000511

研究キーワード

経歴

1999年

：愛知県心身障害者コロニー発達障害研究所部長
1999年

:Department Head, Department of Genetics, Institute for
1998年

：徳島大学第一内科講師
1998年

:Lecturer, First Department of Internal Medicine, The
1995年

：徳島大学第一内科助手
1995年

:Assistant Professor, First Department of Internal Medicine,
1992年

：カナダ医学審査会（カナダMRC）研究員
1992年

:Researcher, Medical research Council (MRC) of Canada
1991年

：マギール大学付属モントリオール小児病院研究所研究員
1991年

:Researcher, Montreal children’s Hospital Research
Developmental Research, Aichi Human Service Center
University of Tokushima
徳島大学
Institute

学歴

受賞

MISC

MBTPS2 Mutation Causes BRESEK/BRESHECK Syndrome

Misako Naiki, Seiji Mizuno, Kenichiro Yamada, Yasukazu Yamada, Reiko Kimura, Makoto Oshiro, Nobuhiko Okamoto, Yoshio Makita, Mariko Seishima, Nobuaki Wakamatsu

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 158A(1) 97-102 2012年1月
Clinical and Genomic Characterization of Siblings With a Distal Duplication of Chromosome 9q (9q34.1-qter)

Seiji Mizuno, Daisuke Fukushi, Reiko Kimura, Kenichiro Yamada, Yasukazu Yamada, Toshiyuki Kumagai, Nobuaki Wakamatsu

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 155A(9) 2274-2280 2011年9月
A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

Kenichiro Yamada, Kiyokuni Miura, Kenju Hara, Motomasa Suzuki, Keiko Nakanishi, Toshiyuki Kumagai, Naoko Ishihara, Yasukazu Yamada, Ryozo Kuwano, Shoji Tsuji …

BMC MEDICAL GENETICS 11 2010年12月
Characterization of a De Novo Balanced t(4;20)(q33;q12) Translocation in a Patient With Mental Retardation

Kenichiro Yamada, Daisuke Fukushi, Takao Ono, Yoko Kondo, Reiko Kimura, Noriko Nomura, Ken-jiro Kosaki, Yasukazu Yamada, Seiji Mizuno, Nobuaki Wakamatsu

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 152A(12) 3057-3067 2010年12月
Mowat-Wilson syndrome affecting 3 siblings

Motoko Ohtsuka, Hirokazu Oguni, Yasushi Ito, Tomohiro Nakayama, Mari Matsuo, Makiko Osawa, Kayoko Saito, Yasukazu Yamada, Nobuaki Wakamatsu

JOURNAL OF CHILD NEUROLOGY 23(3) 274-278 2008年3月
Two cases of partial trisomy 21 (pter-q22.1) without the major features of Down syndrome

Y Kondo, S Mizuno, K Ohara, T Nakamura, K Yamada, S Yamamori, C Hayakawa, T Ishii, Y Yamada, N Wakamatsu

AMERICAN JOURNAL OF MEDICAL GENETICS PART A 140A(3) 227-232 2006年2月
Clinical and molecular analysis of Mowat-Wilson syndrome associated with ZFHX1B mutations and deletions at 2q22-q24.1.

Ishihara N, Yamada K, Yamada Y, Miura K, Kato J, Kuwabara N, Hara Y, Kobayashi Y, Hoshino K, Nomura Y …

J Med Genet 41 387-394 2004年
Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B

M Yoneda, T Fujita, Y Yamada, K Yamada, A Fujii, T Inagaki, H Nakagawa, A Shimada, M Kishikawa, M Nagaya …

NEUROLOGY 59(10) 1637-1640 2002年11月
Clinical feature of a form of Hirschspurung’s disease caused by a novel genetic abnormality.

Nagaya M, Kato J, Niimi, N, Tanaka S, Wakamatsu N

J Pediar Surg 37(8) 1117-1122 2002年8月
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

N Wakamatsu, Y Yamada, K Yamada, T Ono, N Nomura, H Taniguchi, H Kitoh, N Mutoh, T Yamanaka, K Mushiake …

NATURE GENETICS 27(4) 369-370 2001年4月
Nonsense and frameshift mutations in ZFHX1B, encoding Smad-interacting protein 1, cause a complex developmental disorder with a great variety of clinical features

Kenichiro Yamada, Yasukazu Yamada, Noriko Nomura, Kiyokuni Miura, Rie Wakako, Chiemi Hayakawa, Akiko Matsumoto, Toshiyuki Kumagai, Ikuko Yoshimura, Shuji Miyazaki …

American Journal of Human Genetics 69(6) 1178-1185 2001年
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

Nobuaki Wakamatsu, Yasukazu Yamada, Kenichiro Yamada, Takao Ono, Noriko Nomura, Hiroko Taniguchi, Hiroshi Kitoh, Norihiro Mutoh, Tsutomu Yamanaka, Kyosuke Mushiake …

Nature Genetics 27(4) 369-370 2001年
Nonsense and Frameshift Mutations in ZFHX1B, Encoding Smad-Interacting Protein 1, Cause a Complex Developmental Disorder with a Great Variety of Clinical Features.

Yamada K, Yamada Y, Nomura N, Miura K, Wakako R, Hayakawa C, Matsumoto A, Kumagai T, Yoshimura I, Miyazaki S …

Am J Hum Genet 69(6) 1178-1185 2001年
Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff disease.

Phaneuf D, Wakamatsu N, Huang J-Q, Borowski A, Peterson AC, Fortunato SR, Ritter G, Igdoura SA, Morales CR, Benoit G …

Hum Mol Genet 5(1) 1-14 1996年
A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3’ splice site selection.

Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S

J Biol Chem 267(4) 2406-2413 1992年2月
Molecular analysis of Japanese patients with Rett syndrome: Identification of five novel mutations and genotype-phenotype correlation.

Hum.Mutat.(2001),18(3):253(Online#443).
Structural organization, sequence, and expression of the mouse HEXA gene encoding the α subunit of hexosaminidase A. Wakamatsu N, Benoit G, Lamhonwah AM, Zhang ZX, Trasler JM, Triggs-Raine BL, Gravel RA.

Genomics 24(1):110-119, 1994.
Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB) in severe and mild forms of alpha-mannosidosis. Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T.

Am J Hum Genet 63(10):1015-1024, 1998.
Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff disease. Phaneuf D, Wakamatsu N, Huang J-Q, Borowski A, Peterson AC, Fortunato SR, Ritter G, Igdoura SA, Morales CR, Benoit G, Akerman BR, Leclerc D, Hanai N, Marth J・・・

Hum Mol Genet 5(1):1-14, 1996.
A novel exon mutation in the human β-hexosaminidase β subunit gene affects 3’ splice site selection. Wakamatsu N, Kobayashi H, Miyatake T, Tsuji S.

J Biol Chem 267(4):2406-2413, 1992.

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若松延昭

基本情報

研究キーワード

経歴

学歴

受賞

MISC

所属学協会

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