Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Yoko Narumi"'
Autor:
Asuka Hori, Ohsuke Migita, Rika Kawaguchi-Kawata, Yoko Narumi-Kishimoto, Fumio Takada, Kenichiro Hata
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Abstract Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple co
Externí odkaz:
https://doaj.org/article/a2889c71fc1641f9b11cf9b77fd7efd3
Publikováno v:
Brain and Development. 43:135-139
Background Heterozygous variants in BICD2 cause autosomal dominant spinal muscular atrophy with lower extremity predominance. These variants are also identified in individuals with severe forms of congenital muscle atrophy representing arthrogryposis
Autor:
Kazuhisa Nakano, Yoko Narumi-Kishimoto, Tomoya Nishida, Tadashi Kaname, Yoshino Inoue, Yoshiya Tanaka, Koichi Akashi
Publikováno v:
Internal Medicine
An 18-year-old man showed swelling, pain, and limited motion of the hand, knee, and foot joints without X-ray abnormalities at 2 years old (X-16). In X-12, interstitial pneumonia was observed. He was diagnosed with juvenile idiopathic arthritis assoc
Autor:
Yoko Narumi-Kishimoto, Fumio Takada, Kenichiro Hata, Ohsuke Migita, Rika Kawaguchi-Kawata, Asuka Hori
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Human Genome Variation, Vol 8, Iss 1, Pp 1-3 (2021)
Frontometaphyseal dysplasia (FMD) type 2 is an autosomal dominant disorder characterized by skeletal abnormalities and caused by MAP3K7 mutation. We identified a novel missense mutation in TAB2 associated with FMD in a child with multiple congenital
Autor:
Mitsuhiro Kato, Koh-ichi Nagata, Nobuhiko Okamoto, Yoko Narumi-Kishimoto, Yonehiro Kanemura, Hiroshi Ozawa, Hidenori Ito, Kohji Kato, Ikumi Hori, Kenjiro Kosaki, Shinji Saitoh, Yoshiyuki Takahashi, Tatsuhiko Tsunoda, Nanako Hamada, Yutaka Negishi, Ayako Hattori, Fuyuki Miya
Publikováno v:
Journal of Medical Genetics. 56:388-395
BackgroundIn this study, we aimed to identify the gene abnormality responsible for pathogenicity in an individual with an undiagnosed neurodevelopmental disorder with megalencephaly, ventriculomegaly, hypoplastic corpus callosum, intellectual disabil
Autor:
Koji Okamura, Kumiko Yanagi, Kenichiro Hata, Tadashi Kaname, Hiroshi Ozawa, Yoichi Matsubara, Tomoko Kawai, Yoko Narumi-Kishimoto
Publikováno v:
Clinical dysmorphology. 29(4)
Autor:
Taro Moriwaki, Motomichi Kosuga, Tadashi Kaname, Osamu Miyazaki, Gen Nishimura, Tetsumin So, Yoko Narumi-Kishimoto, Yasuyuki Fukuhara, Torayuki Okuyama, Narutoshi Yamazaki
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2020)
Human Genome Variation, Vol 6, Iss 1, Pp 1-4 (2020)
Autosomal recessive primary microcephaly 5 (MCPH5) is caused by pathogenic variants in ASPM. Using whole-exome sequencing, we diagnosed two siblings with MCPH5. A known pathogenic variant (NM_018136.4: c.9697C > T, p.(Arg3233*)) and a novel pathogeni
Autor:
Fumio Takada, Tomoko Kawai, Hiroshi Ozawa, Yuri Ozawa, Naomi Araki, Tadashi Kaname, Yoko Narumi-Kishimoto, Kohji Okamura, Kazuhiko Nakabayashi, Kenichiro Hata, Ohsuke Migita
Publikováno v:
European journal of medical genetics. 62(9)
Autor:
Keiko Wakui, Noriyuki Azuma, Motoharu Tokimitsu, Yoko Aoki, Toshinori Murata, Yoshimitsu Fukushima, Rika Kosaki, Yoko Narumi, Tomoki Kosho, Fumio Takada, Sachiko Nishina
Publikováno v:
American Journal of Medical Genetics Part A. 164:1272-1276
Congenital cataracts are the most important cause of severe visual impairment in infants. Genetic factors contribute to the disease development and 29 genes are known to cause congenital cataracts. Identifying the genetic cause of congenital cataract
Autor:
Shigeto Hattori, Keiko Wakui, Yoshimitsu Fukushima, Nobuhiko Okamoto, Kenji Shimizu, Yoko Narumi, Seiji Mizuno, Hiroshi Kawame, Yuko Kako, Yoshiyuki Kobayashi, Kazuya Itomi, Hirofumi Ohashi, Tsutomu Oh-ishi, Osamu Samura, Tomoki Kosho, Kimio Nishio, Takashi Arai
Publikováno v:
American Journal of Medical Genetics Part A. 164:597-609
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome of the distal 4p chromosome, characterized by craniofacial features, growth impairment, intellectual disability, and seizures. Although genotype-phenotype correlation studies have