Art

J-GLOBAL ID：201702273493089833   Reference number：17A0305995

Rare renal ciliopathies in non-consanguineous families that were identified by targeted resequencing

標的化シークエンシングで同定した非同族家族における稀な腎性繊毛病

Author (13)： YAMAMURA Tomohiko (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  MORISADA Naoya (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  NOZU Kandai (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  MINAMIKAWA Shogo (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  ISHIMORI Shingo (Kakogawa West City Hospital, Kakogawa, JPN) ,  TOYOSHIMA Daisaku (Hyogo Prefectural Kobe Children’s Hospital, Kobe, JPN) ,  NINCHOJI Takeshi (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  YASUI Masato (Fukuyama Capital Hospital, Fukuyama, JPN) ,  TANIGUCHI-IKEDA Mariko (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  MORIOKA Ichiro (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  NAKANISHI Koichi (Wakayama Medical Coll., Wakayama, JPN) ,  NISHIO Hisahide (Kobe Univ. Graduate School of Medicine, Kobe, JPN) ,  IIJIMA Kazumoto (Kobe Univ. Graduate School of Medicine, Kobe, JPN)
Material： Clinical and Experimental Nephrology  (Clin Exp Nephrol)
Volume： 21  Issue： 1  Page： 136-142  Publication year： Feb. 2017 
JST Material Number： L3173A  ISSN： 1342-1751  Document type： Article
Article type： 原著論文  Country of issue： Germany, Federal Republic of (DEU)  Language： ENGLISH (EN)

Thesaurus term： genetic technique ,...
Semi thesaurus term： sequencing ,...

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JST classification (4)： Basic medicine on urogenital system  (GM01020T) ,  Research methods in genetics  (EC01020N) ,  Congenital diseases,deformities in general.  (GD03010V) ,  Pediatrics in general.  (GC08010B)

Reference (20)：

• Halbritter J, Porath JD, Diaz KA, Braun DA, Kohl S, Chaki M, Allen SJ, Soliman NA, Hildebrandt F, Otto EA, G. P. N. Study Group. Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. Hum Genet. 2013;132:865-84.
• Wolf MT. Nephronophthisis and related syndromes. Curr Opin Pediatr. 2015;27:201-11.
• Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med. 2011;364:1533-43.
• Chaki M, Hoefele J, Allen SJ, Ramaswami G, Janssen S, Bergmann C, Heckenlively JR, Otto EA, Hildebrandt F. Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. Kidney Int. 2011;80:1239-45.
• Lin AE, Traum AZ, Sahai I, Keppler-Noreuil K, Kukolich MK, Adam MP, Westra SJ, Arts HH. Sensenbrenner syndrome (cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients. Am J Med Genet A. 2013;161A:2762-76.

Terms in the title (6)： 標的化 ,  シークエンシング ,  同定 ,  家族 ,  腎 ,  繊毛病