Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Daisuke Miyamichi"'
Autor:
Kentaro Kurata, Katsuhiro Hosono, Takaaki Hayashi, Kei Mizobuchi, Satoshi Katagiri, Daisuke Miyamichi, Sachiko Nishina, Miho Sato, Noriyuki Azuma, Tadashi Nakano, Yoshihiro Hotta
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 6, p 1518 (2019)
X-linked retinitis pigmentosa (XLRP) is a type of severe retinal dystrophy, and female carriers of XLRP demonstrate markedly variable clinical severity. In this study, we aimed to elucidate the clinical findings of male patients with and female carri
Externí odkaz:
https://doaj.org/article/c39d180dcdae4911b88fa3f8c791bf65
Autor:
Daisuke Miyamichi, Akiko Hikoya, Satoshi Katagiri, Katsuhiro Hosono, Sachiko Nishina, Hiroyuki Kondo, Takaaki Hayashi, Maki Fukami, Miho Sato, Kei Mizobuchi, Tadashi Yokoi, Noriyuki Azuma, Kentaro Kurata, Yoshihiro Hotta, Tadashi Nakano, Shinsei Minoshima, Hirotomo Saitsu
Publikováno v:
Scientific Reports, Vol 8, Iss 1, Pp 1-11 (2018)
Scientific Reports
Scientific Reports
Leber congenital amaurosis (LCA) is a genetically and clinically heterogeneous disease, and represents the most severe form of inherited retinal dystrophy (IRD). The present study reports the mutation spectra and frequency of known LCA and IRD-associ
Autor:
Sachiko Nishina, Katsuhiro Hosono, Miho Sato, Tadashi Yokoi, Noriyuki Azuma, Daisuke Miyamichi, Kentaro Kurata, Yoshihiro Hotta
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-8 (2019)
Human Genome Variation, Vol 6, Iss 1, Pp 1-8 (2019)
This study aimed to evaluate retinal structure in the early stage of Leber’s congenital amaurosis (LCA) caused by RPGRIP1 mutations. Four patients from two families were included. Case 1 was a 13-year-old girl, cases 2 and 3 were 7-year-old monozyg
Autor:
Junya Nakajima, Takashi Negishi, Noriko Miyake, Yoshihiro Hotta, Miki Asahina, Miho Sato, Tsutomu Ogata, Daisuke Miyamichi, Katsuhiro Hosono, Takahito Nomura, Naomichi Matsumoto
Publikováno v:
Journal of human genetics. 61(9)
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, platelet dysfunction and ceroid deposition. We report suspected ocular albinism in two Japanese sisters, caused by mutations in the HPS6 (Her