Zobrazeno 1 - 10
of 93
pro vyhledávání: '"Mitsuo MASUNO"'
Autor:
Takahito Moriwaki, Mitsuo Masuno, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Kayo Takao, Kazumi Tawa, Yasuko Yamanouchi, Atsushi Miki, Takanobu Otomo
Publikováno v:
Human Genome Variation, Vol 10, Iss 1, Pp 1-4 (2023)
Abstract We report a Japanese patient with tall stature, dolichocephaly, prominent forehead, narrow nasal ridge, mild retrognathia, subcutaneous fat reduction, bilateral entropion of both eyelids, high arched palate, long fingers, and mild hyperexten
Externí odkaz:
https://doaj.org/article/63f7d5ce849d459d832de890c1b99d1a
Autor:
Viktoriia Sofronova, Yu Fukushima, Mitsuo Masuno, Mami Naka, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Takahito Moriwaki, Rina Iwata, Seigo Terawaki, Yasuko Yamanouchi, Takanobu Otomo
Publikováno v:
Human Genome Variation, Vol 9, Iss 1, Pp 1-6 (2022)
Coffin-Siris syndrome: New mutation implicated Genomic sequencing has revealed a new causative mutation for Coffin-Siris syndrome (CSS), a very rare disease characterized by developmental delays, intellectual disability and various anatomical abnorma
Externí odkaz:
https://doaj.org/article/b4113a2a404e4759b2900d95661efd41
Autor:
Kenta Shono, Yumi Enomoto, Yoshinori Tsurusaki, Tatsuro Kumaki, Mitsuo Masuno, Kenji Kurosawa
Publikováno v:
American Journal of Medical Genetics Part A. 188:1595-1599
Autor:
Noriaki Harada, Keisuke Enomoto, Mitsuo Masuno, Hiroaki Murakami, Naoto Nishimura, Yukiko Kuroda, Kiyoko Sameshima, Tadashi Kaname, Takuya Naruto, Mari Minatogawa, Yoshinori Tsurusaki, Chihiro Abe-Hatano, Shinsuke Ninomiya, Yumi Enomoto, Hiroshi Yoshihashi, Tatsuro Kumaki, Hiroshi Suzumura, Hiroshi Kawame, Makiko Tominaga, Yoshikazu Kuroki, Masahisa Kobayashi, Kenjiro Kosaki, Kenji Kurosawa, Fuminori Iwasaki, Aki Ishikawa, Akane Kondo, Noritaka Furuya, Satoshi Ishikiriyama, Yu Yamaguchi, Ikuko Ohashi, Toshiaki Tanaka, Takayuki Yokoi
Publikováno v:
American Journal of Medical Genetics Part A. 182:2333-2344
Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KM
Publikováno v:
Clinical Dysmorphology. 30:139-141
Autor:
Hiroaki, Murakami, Yoshinori, Tsurusaki, Keisuke, Enomoto, Yukiko, Kuroda, Takayuki, Yokoi, Noritaka, Furuya, Hiroshi, Yoshihashi, Mari, Minatogawa, Chihiro, Abe-Hatano, Ikuko, Ohashi, Naoto, Nishimura, Tatsuro, Kumaki, Yumi, Enomoto, Takuya, Naruto, Fuminori, Iwasaki, Noriaki, Harada, Aki, Ishikawa, Hiroshi, Kawame, Kiyoko, Sameshima, Yu, Yamaguchi, Masahisa, Kobayashi, Makiko, Tominaga, Satoshi, Ishikiriyama, Toshiaki, Tanaka, Hiroshi, Suzumura, Shinsuke, Ninomiya, Akane, Kondo, Tadashi, Kaname, Kenjiro, Kosaki, Mitsuo, Masuno, Yoshikazu, Kuroki, Kenji, Kurosawa
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 182(10)
Kabuki syndrome is characterized by a variable degree of intellectual disability, characteristic facial features, and complications in various organs. Many variants have been identified in two causative genes, that is, lysine methyltransferase 2D (KM
Publikováno v:
Congenital Anomalies. 60:128-130
Autor:
Satoshi Hamanoue, Toshiyuki Saito, Jun-ichi Nagai, Hiroaki Goto, Mitsuo Masuno, You Umeda, Makiko Tominaga, Kenji Kurosawa
Publikováno v:
Human Genome Variation, Vol 6, Iss 1, Pp 1-3 (2019)
Human Genome Variation
Human Genome Variation
Diamond-Blackfan anemia (DBA) is an inherited anemia with multiple congenital malformations, and mutations in ribosomal protein genes have been identified as the underlying cause. We describe a female patient with mild DBA due to 1p22 deletion, encom
Publikováno v:
Congenital Anomalies. 60:73-74
Autor:
Mitsuo Masuno, Takuya Naruto, Kenji Kurosawa, Yukiko Kuroda, Kazumi Ida, Toshiyuki Saito, Jun-ichi Nagai
Publikováno v:
American Journal of Medical Genetics Part A. 167:389-393
Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disease characterized by gastrointestinal polyposis and mucocutaneous pigmentation. Germline point mutations in the serine/threonine kinase 11 (STK11) have been identified in about 70% of pati