若松延昭

常染色体優性遺伝を呈する知的障害患者の病因遺伝子の同定と機能解析
Molecular genetic analysis of autosomal dominant mental retardation

Misako Naiki, Seiji Mizuno, Kenichiro Yamada, Yasukazu Yamada, Reiko Kimura, Makoto Oshiro, Nobuhiko Okamoto, Yoshio Makita, Mariko Seishima, Nobuaki Wakamatsu. MBTPS2 Mutation Causes BRESEK/BRESHECK Syndrome. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2012. 158A. 1. 97-102
Seiji Mizuno, Daisuke Fukushi, Reiko Kimura, Kenichiro Yamada, Yasukazu Yamada, Toshiyuki Kumagai, Nobuaki Wakamatsu. Clinical and Genomic Characterization of Siblings With a Distal Duplication of Chromosome 9q (9q34.1-qter). AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2011. 155A. 9. 2274-2280
Kenichiro Yamada, Kiyokuni Miura, Kenju Hara, Motomasa Suzuki, Keiko Nakanishi, Toshiyuki Kumagai, Naoko Ishihara, Yasukazu Yamada, Ryozo Kuwano, Shoji Tsuji, et al. A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations. BMC MEDICAL GENETICS. 2010. 11
Kenichiro Yamada, Daisuke Fukushi, Takao Ono, Yoko Kondo, Reiko Kimura, Noriko Nomura, Ken-jiro Kosaki, Yasukazu Yamada, Seiji Mizuno, Nobuaki Wakamatsu. Characterization of a De Novo Balanced t(4;20)(q33;q12) Translocation in a Patient With Mental Retardation. AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 2010. 152A. 12. 3057-3067
Motoko Ohtsuka, Hirokazu Oguni, Yasushi Ito, Tomohiro Nakayama, Mari Matsuo, Makiko Osawa, Kayoko Saito, Yasukazu Yamada, Nobuaki Wakamatsu. Mowat-Wilson syndrome affecting 3 siblings. JOURNAL OF CHILD NEUROLOGY. 2008. 23. 3. 274-278

徳島大学医学部医学科
徳島大学医学部大学院酵素化学(生理系専攻)

医学博士

1999 - :愛知県心身障害者コロニー発達障害研究所部長
1999 - :Department Head, Department of Genetics, Institute for
1998 - :徳島大学第一内科講師
1998 - :Lecturer, First Department of Internal Medicine, The
1995 - :徳島大学第一内科助手

全件表示

カナダMRC賞(1992)
Medical Research Council (MRC) of Canada (1992)

米国人類遺伝学会 , 日本生化学会 , 日本人類遺伝学会 , 日本神経学会 , The Japanese Biochemical Society , The Japan Society of Human Genetics , The American Society of Human Genetics , Society of Japanese Neurology

若松 延昭