Literature DB >> 10928856

A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype.

S Engels, J Kohlhase, J McGaughran.   

Abstract

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Year:  2000        PMID： 10928856      PMCID： PMC1734618          DOI： 10.1136/jmg.37.6.458

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  19 in total

1.  Using mouse models to understand normal and abnormal urogenital tract development.

Authors:  Cathy Mendelsohn
Journal:  Organogenesis       Date:  2009-01       Impact factor: 2.500

Review 2.  Anorectal malformation: the etiological factors.

Authors:  Chen Wang; Long Li; Wei Cheng
Journal:  Pediatr Surg Int       Date:  2015-04-22       Impact factor: 1.827

3.  Clinically diverse phenotypes and genotypes of patients with branchio-oto-renal syndrome.

Authors:  Ai Unzaki; Naoya Morisada; Kandai Nozu; Ming Juan Ye; Shuichi Ito; Tatsuo Matsunaga; Kenji Ishikura; Shihomi Ina; Koji Nagatani; Takayuki Okamoto; Yuji Inaba; Naoko Ito; Toru Igarashi; Shoichiro Kanda; Ken Ito; Kohei Omune; Takuma Iwaki; Kazuyuki Ueno; Mayumi Yahata; Yasufumi Ohtsuka; Eriko Nishi; Nobuya Takahashi; Tomoaki Ishikawa; Shunsuke Goto; Nobuhiko Okamoto; Kazumoto Iijima
Journal:  J Hum Genet       Date:  2018-03-02       Impact factor: 3.172

4.  Vesico-ureteric reflux: using mouse models to understand a common congenital urinary tract defect.

Authors:  Inga J Murawski; Christine L Watt; Indra R Gupta
Journal:  Pediatr Nephrol       Date:  2011-03-20       Impact factor: 3.714

5.  Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion.

Authors:  Naoya Morisada; Nanna Dahl Rendtorff; Kandai Nozu; Takahiro Morishita; Takayuki Miyakawa; Tohru Matsumoto; Satoshi Hisano; Kazumoto Iijima; Lisbeth Tranebjaerg; Akira Shirahata; Masafumi Matsuo; Koichi Kusuhara
Journal:  Pediatr Nephrol       Date:  2010-02-04       Impact factor: 3.714

Review 6.  Transcriptional networks in the human epididymis.

Authors:  J A Browne; S-H Leir; S Yin; A Harris
Journal:  Andrology       Date:  2019-05-02       Impact factor: 3.842

7.  p150(Sal2) is a p53-independent regulator of p21(WAF1/CIP).

Authors:  Dawei Li; Yu Tian; Yupo Ma; Thomas Benjamin
Journal:  Mol Cell Biol       Date:  2004-05       Impact factor: 4.272

8.  A genome-wide association study of optic disc parameters.

Authors:  Wishal D Ramdas; Leonieke M E van Koolwijk; M Kamran Ikram; Nomdo M Jansonius; Paulus T V M de Jong; Arthur A B Bergen; Aaron Isaacs; Najaf Amin; Yurii S Aulchenko; Roger C W Wolfs; Albert Hofman; Fernando Rivadeneira; Ben A Oostra; Andre G Uitterlinden; Pirro Hysi; Christopher J Hammond; Hans G Lemij; Johannes R Vingerling; Caroline C W Klaver; Cornelia M van Duijn
Journal:  PLoS Genet       Date:  2010-06-10       Impact factor: 5.917

9.  Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.

Authors:  Jiang He; Tanika N Kelly; Qi Zhao; Hongfan Li; Jianfeng Huang; Laiyuan Wang; Cashell E Jaquish; Yun Ju Sung; Lawrence C Shimmin; Fanghong Lu; Jianjun Mu; Dongsheng Hu; Xu Ji; Chong Shen; Dongshuang Guo; Jixiang Ma; Renping Wang; Jinjin Shen; Shengxu Li; Jing Chen; Hao Mei; Chung-Shiuan Chen; Shufeng Chen; Jichun Chen; Jianxin Li; Jie Cao; Xiangfeng Lu; Xigui Wu; Treva K Rice; C Charles Gu; Karen Schwander; L Lee Hamm; Depei Liu; Dabeeru C Rao; James E Hixson; Dongfeng Gu
Journal:  Circ Cardiovasc Genet       Date:  2013-10-28

Review 10.  Gene discovery and vesicoureteric reflux.

Authors:  Inga J Murawski; Indra R Gupta
Journal:  Pediatr Nephrol       Date:  2008-02-06       Impact factor: 3.714
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