Rare copy number variants implicated in posterior urethral valves-Reference-Cited by-同舟云学术

Rare copy number variants implicated in posterior urethral valves

Published:2015-12-14 Issue:3 Volume:170 Page:622-633
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Boghossian Nansi S.¹²,Sicko Robert J.³,Kay Denise M.³,Rigler Shannon L.²,Caggana Michele³,Tsai Michael Y.⁴,Yeung Edwina H.²,Pankratz Nathan⁴,Cole Benjamin R.⁴,Druschel Charlotte M.⁵⁶,Romitti Paul A.⁷,Browne Marilyn L.⁵⁶,Fan Ruzong²,Liu Aiyi²,Brody Lawrence C.⁸,Mills James L.²

Affiliation:

1. Department of Epidemiology and Biostatistics; Arnold School of Public Health; University of South Carolina; Columbia South Carolina

2. Division of Intramural Population Health Research; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health; Bethesda Maryland

3. Department of Health; Division of Genetics; Wadsworth Center; Albany New York

4. Department of Laboratory Medicine and Pathology; University of Minnesota Medical School; Minneapolis Minnesota

5. Department of Health; Congenital Malformations Registry; Albany New York

6. University at Albany School of Public Health; Rensselaer New York

7. Department of Epidemiology; College of Public Health; The University of Iowa; Iowa City Iowa

8. Genome Technology Branch; National Human Genome Research Institute; National Institutes of Health; Bethesda Maryland

Funder

Intramural Research Program of the National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Institute of Child Health and Human Development

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37493/fullpdf

Reference41 articles.

1. Integrating common and rare genetic variation in diverse human populations;Altshuler;Nature,2010

2. Identification of a recurrent microdeletion at 17q23.1q23.2 flanked by segmental duplications associated with heart defects and limb abnormalities;Ballif;Am J Hum Genet,2010

3. Anterior and posterior urethral valves with subcoronal hypospadias: A rare association;Bhagat;J Pediatr Surg,2008

4. Major chromosomal anomalies among very low birth weight infants in the Vermont Oxford Network;Boghossian;J Pediatr,2012

5. Hypospadias and genes related to genital tubercle and early urethral development;Carmichael;J Urol,2013

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