Výsledky vyhledávání - "Kotaro Ishikawa"

Akademický článek

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis.

Publikováno v: PLoS ONE, Vol 13, Iss 3, p e0193359 (2018)

A heterozygous mutation in the Wolfram syndrome type 1 gene (WFS1) causes autosomal dominant nonsyndromic hereditary hearing loss, DFNA6/14/38, or Wolfram-like syndrome. To date, more than 40 different mutations have been reported to be responsible f

Externí odkaz: https://doaj.org/article/d12e1603260240488c28c6206135a593

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Akademický článek

Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.

Autor: Hidekane Yoshimura, Satoshi Iwasaki, Shin-Ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-Ichi Usami

Publikováno v: PLoS ONE, Vol 9, Iss 3, p e90688 (2014)

Usher syndrome is an autosomal recessive disorder manifesting hearing loss, retinitis pigmentosa and vestibular dysfunction, and having three clinical subtypes. Usher syndrome type 1 is the most severe subtype due to its profound hearing loss, lack o

Externí odkaz: https://doaj.org/article/079832764be845509f62076b09ea6131

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Akademický článek

Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation.

Autor: Takehiko Naito, Shin-ya Nishio, Yoh-ichiro Iwasa, Takuya Yano, Kozo Kumakawa, Satoko Abe, Kotaro Ishikawa, Hiromi Kojima, Atsushi Namba, Chie Oshikawa, Shin-ichi Usami

Publikováno v: PLoS ONE, Vol 8, Iss 5, p e63231 (2013)

The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased population-based genetic screening, 2) clarify the mutation spectrum and genotype/phenotype correlations, and 3) summarize clinical characteristics. In ad

Externí odkaz: https://doaj.org/article/6e2c9738fca64aa9baed05ddad10ee62

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Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome

Autor: Shio Yamano, Akihiro Iguchi, Kotaro Ishikawa, Atsushi Sakamoto, Toru Uchiyama, Kumiko Yanagi, Tadashi Kaname, Shinji Kunishima, Akira Ishiguro

Takenouchi-Kosaki syndrome (TKS) is a rare congenital disease caused by a de novo heterozygous mutation in the CDC42 gene. Its characteristic clinical features are macrothrombocytopenia, developmental delay, dysmorphic facial features, and deafness.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1a735da9b3dab04e7326196d359c096
https://doi.org/10.22541/au.165225262.24201828/v1

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[A case of autoimmune hepatitis with tuberculosis caused by prednisolone from undeterminable enzyme-linked immunospot assay]

Autor: Kotaro, Ishikawa, Osamu, Kimura, Akio, Ubukata, Makoto, Kawabe, Hideki, Okata, Keiichiro, Hiramoto, Sho, Asonuma, Ken, Umemura, Akihiko, Satoh, Tooru, Shimosegawa

Publikováno v: Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterology. 117(12)

An 88-year-old woman was referred to our hospital for autoimmune hepatitis in 2016. She was treated with prednisolone. In 2018, she was rehospitalized owing to hepatitis relapse. Steroid pulse therapy was performed. She exhibited good recovery of hep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e6b2ca03c4900a3efc432b2aa43395e0
https://pubmed.ncbi.nlm.nih.gov/33298677

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