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Literature DB >> 18411231

Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome.

Paul J Murray¹, Katie Thomas, Christopher J Mulgrew, Sian Ellard, Emma L Edghill, Coralie Bingham.

Abstract

Entities: Disease Gene Species

Mesh：

Substances：

Year: 2008 PMID： 18411231 DOI： 10.1093/ndt/gfn169

Source DB: PubMed Journal: Nephrol Dial Transplant ISSN： 0931-0509 Impact factor: 5.992

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20 in total

1. Muscarinic Acetylcholine Receptor M3 Mutation Causes Urinary Bladder Disease and a Prune-Belly-like Syndrome.

Authors: Stefanie Weber; Holger Thiele; Sevgi Mir; Mohammad Reza Toliat; Betül Sozeri; Heiko Reutter; Markus Draaken; Michael Ludwig; Janine Altmüller; Peter Frommolt; Helen M Stuart; Parisa Ranjzad; Neil A Hanley; Rachel Jennings; William G Newman; Duncan T Wilcox; Uwe Thiel; Karl Peter Schlingmann; Rolf Beetz; Peter F Hoyer; Martin Konrad; Franz Schaefer; Peter Nürnberg; Adrian S Woolf
Journal: Am J Hum Genet Date: 2011-11-11 Impact factor: 11.025

2. Rare copy number variants identified in prune belly syndrome.

Authors: Nansi S Boghossian; Robert J Sicko; Andreas Giannakou; Aggeliki Dimopoulos; Michele Caggana; Michael Y Tsai; Edwina H Yeung; Nathan Pankratz; Benjamin R Cole; Paul A Romitti; Marilyn L Browne; Ruzong Fan; Aiyi Liu; Denise M Kay; James L Mills
Journal: Eur J Med Genet Date: 2017-11-23 Impact factor: 2.708

3. Genetic basis of prune belly syndrome: screening for HNF1β gene.

Authors: Candace F Granberg; Steven M Harrison; Daniel Dajusta; Shaohua Zhang; Sachin Hajarnis; Peter Igarashi; Linda A Baker
Journal: J Urol Date: 2011-11-23 Impact factor: 7.450

Review 4. Prune belly syndrome.

Authors: S Hassett; G H H Smith; A J A Holland
Journal: Pediatr Surg Int Date: 2011-12-25 Impact factor: 1.827

Review 5. Genetics of human congenital urinary bladder disease.

Authors: Adrian S Woolf; Helen M Stuart; William G Newman
Journal: Pediatr Nephrol Date: 2013-04-13 Impact factor: 3.714

6. Copy number variations in a population with prune belly syndrome.

Authors: Nida S Iqbal; Thomas A Jascur; Steven Harrison; Catherine Chen; Michelle K Arevalo; Daniel Wong; Emma Sanchez; Gwen Grimsby; Kathleen Wilson; Linda A Baker
Journal: Am J Med Genet A Date: 2018-10-04 Impact factor: 2.802

7. HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Authors: Shazia Adalat; Adrian S Woolf; Karen A Johnstone; Andrea Wirsing; Lorna W Harries; David A Long; Raoul C Hennekam; Sarah E Ledermann; Lesley Rees; William van't Hoff; Stephen D Marks; Richard S Trompeter; Kjell Tullus; Paul J Winyard; Janette Cansick; Imran Mushtaq; Harjeeta K Dhillon; Coralie Bingham; Emma L Edghill; Rukshana Shroff; Horia Stanescu; Gerhart U Ryffel; Sian Ellard; Detlef Bockenhauer
Journal: J Am Soc Nephrol Date: 2009-04-23 Impact factor: 10.121