Výsledky vyhledávání - "Kumi Tsumura"

Akademický článek

Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Autor: Takanobu Inoue, Akie Nakamura, Tomoko Fuke, Kazuki Yamazawa, Shinichiro Sano, Keiko Matsubara, Seiji Mizuno, Yoshika Matsukura, Chie Harashima, Tatsuji Hasegawa, Hisakazu Nakajima, Kumi Tsumura, Zenro Kizaki, Akira Oka, Tsutomu Ogata, Maki Fukami, Masayo Kagami

Publikováno v: Clinical Epigenetics, Vol 9, Iss 1, Pp 1-10 (2017)

Abstract Background Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypometh

Externí odkaz: https://doaj.org/article/7eca2377d6064342b9054fb0551c24b9

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Genetic heterogeneity of patients with suspected Silver-Russell syndrome: genome-wide copy number analysis in 82 patients without imprinting defects

Autor: Kazuki Yamazawa, Tomoko Fuke, Zenro Kizaki, Yoshika Matsukura, Hisakazu Nakajima, Keiko Matsubara, Takanobu Inoue, Tsutomu Ogata, Akira Oka, Maki Fukami, Chie Harashima, Seiji Mizuno, Akie Nakamura, Masayo Kagami, Kumi Tsumura, Shinichiro Sano, Tatsuji Hasegawa

Publikováno v: Clinical Epigenetics
Clinical Epigenetics, Vol 9, Iss 1, Pp 1-10 (2017)

Background Silver-Russell syndrome (SRS) is a rare congenital disorder characterized by pre- and postnatal growth failure and dysmorphic features. Recently, pathogenic copy number variations (PCNVs) and imprinting defects other than hypomethylation o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92e9e025b2c5d9dce6c6568a54fc3b16
https://pubmed.ncbi.nlm.nih.gov/28515796

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Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy

Autor: Kiyoshi Kikuchi, Junko Ono, Mariko Nagashima, Yuko Naito, Sachiyo Suita, Hideshi Fujinaga, Kumiko Ohkubo, Tomoaki Taguchi, Nobuhiko Okamoto, Kumi Tsumura

Publikováno v: Clinical Endocrinology. 62:458-465

Summary Objective Persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is a disorder of glucose metabolism that is characterized by dysregulated secretion of insulin from pancreatic β-cells. This disease has been reported to be associated wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::305954c0abed79ac6b7b8b36ee338d07
https://doi.org/10.1111/j.1365-2265.2005.02242.x

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A novel PROP1 gene mutation (157delA) in Japanese siblings with combined anterior pituitary hormone deficiency

Autor: Ke-ita Tatsumi, Nobuyuki Amino, Kiyoshi Kikuchi, Kumi Tsumura

Publikováno v: Clinical Endocrinology. 61:635-640

Summary objective The majority of cases of combined anterior pituitary hormone deficiency (CPHD) reported in Japanese patients have PIT1 abnormality. This study describes for the first time a homozygous mutation of the PROP1 gene in two Japanese sibl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21267f7aebab2a13469d6ed198b0369b
https://doi.org/10.1111/j.1365-2265.2004.02147.x

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Rhabdomyolysis and acute renal failure in a child with Salmonella enteritidis gastroenteritis

Autor: Shin-ichiro Tanaka, Masato Arai, Koichi Asai, Kiyoshi Kikuchi, Noriko Tanaka, Kumi Tsumura, Fumihide Kato

Publikováno v: European journal of pediatrics. 166(9)

We report on an 11-year-old boy who developed rhabdomyolysis and acute renal failure following Salmonella enteritidis gastroenteritis. Rhabdomyolysis should be considered as a potentially fatal complication in patients with Salmonella gastroenteritis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::667880ad26fcaa199e3b1592bcebaebf
https://pubmed.ncbi.nlm.nih.gov/17195937

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Intussusception of the small bowel associated with nephrotic syndrome

Autor: Kiyoshi Kikuchi, Kumi Tsumura, Koichi Asai, Fumihide Kato, Noriko Tanaka, Shin-ichiro Tanaka

Publikováno v: Pediatric nephrology (Berlin, Germany). 20(12)

We report the case of a 2-year-old boy who developed a small bowel intussusception during treatment failure of his first episode of nephrotic syndrome. Despite the absence of typical symptoms other than abdominal pain, the intussusception was diagnos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::feb7edd44223aa6d27ccc6601688c308
https://pubmed.ncbi.nlm.nih.gov/18853199

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Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection

Autor: Toshio Miyawaki, Tatsuro Kondoh, Mika Makita, Masahiro Tsuchida, Hiroyoshi Matsukura, Yasuo Kimoto, Hirokazu Kanegane, Hiroyuki Moriuchi, Kentaro Shinozaki, Rie Kanai, Ryo Sumazaki, Kumi Tsumura

Publikováno v: International immunology. 14(10)

X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterized by extreme vulnerability to Epstein-Barr virus (EBV) infection, resulting in fatal infectious mononucleosis, dysgammaglobulinemia and malignant lymphoma. Recent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::498541608cb8b775ae0b3f45ea0a7450
https://pubmed.ncbi.nlm.nih.gov/12356686

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