Literature DB >> 21224893

Clinical utility gene card for: WAGR syndrome.

Carol Clericuzio1, Melanie Hingorani, John A Crolla, Veronica van Heyningen, Alain Verloes.   

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Year:  2011        PMID： 21224893      PMCID： PMC3060328          DOI： 10.1038/ejhg.2010.220

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  9 in total

1.  Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.

Authors:  K Grønskov; J H Olsen; A Sand; W Pedersen; N Carlsen; A M Bak Jylling; T Lyngbye; K Brøndum-Nielsen; T Rosenberg
Journal:  Hum Genet       Date:  2001-07       Impact factor: 4.132

2.  End stage renal disease in patients with Wilms tumor: results from the National Wilms Tumor Study Group and the United States Renal Data System.

Authors:  Norman E Breslow; Allan J Collins; Michael L Ritchey; Yevgeny A Grigoriev; Susan M Peterson; Daniel M Green
Journal:  J Urol       Date:  2005-11       Impact factor: 7.450

Review 3.  WAGR syndrome: a clinical review of 54 cases.

Authors:  Bernard V Fischbach; Kelly L Trout; Julia Lewis; Catherine A Luis; Mohammed Sika
Journal:  Pediatrics       Date:  2005-10       Impact factor: 7.124

4.  Pericentric intrachromosomal insertion responsible for recurrence of del(11)(p13p14) in a family.

Authors:  I Henry; J Hoovers; F Barichard; M F Berthéas; A Puech; F Prieur; M Gessler; G Bruns; M Mannens; C Junien
Journal:  Genes Chromosomes Cancer       Date:  1993-05       Impact factor: 5.006

5.  Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

Authors:  David O Robinson; Rachel J Howarth; Kathleen A Williamson; Veronica van Heyningen; Sarah J Beal; John A Crolla
Journal:  Am J Med Genet A       Date:  2008-03-01       Impact factor: 2.802

6.  Brain-derived neurotrophic factor and obesity in the WAGR syndrome.

Authors:  Joan C Han; Qing-Rong Liu; MaryPat Jones; Rebecca L Levinn; Carolyn M Menzie; Kyra S Jefferson-George; Diane C Adler-Wailes; Ethan L Sanford; Felicitas L Lacbawan; George R Uhl; Owen M Rennert; Jack A Yanovski
Journal:  N Engl J Med       Date:  2008-08-28       Impact factor: 91.245

7.  Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization.

Authors:  J A Fantes; W A Bickmore; J M Fletcher; F Ballesta; I M Hanson; V van Heyningen
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

8.  Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion.

Authors:  Veronica van Heyningen; Jan M N Hoovers; Jan de Kraker; John A Crolla
Journal:  J Med Genet       Date:  2007-07-14       Impact factor: 6.318

9.  Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.

Authors:  Egbert J W Redeker; Annette S H de Visser; Arthur A B Bergen; Marcel M A M Mannens
Journal:  Mol Vis       Date:  2008-05-07       Impact factor: 2.367
  9 in total
  4 in total

Review 1.  Aniridia.

Authors:  Melanie Hingorani; Isabel Hanson; Veronica van Heyningen
Journal:  Eur J Hum Genet       Date:  2012-06-13       Impact factor: 4.246

2.  Association of brain-derived neurotrophic factor (BDNF) haploinsufficiency with lower adaptive behaviour and reduced cognitive functioning in WAGR/11p13 deletion syndrome.

Authors:  Joan C Han; Audrey Thurm; Christine Golden Williams; Lisa A Joseph; Wadih M Zein; Brian P Brooks; John A Butman; Sheila M Brady; Shannon R Fuhr; Melanie D Hicks; Amanda E Huey; Alyson E Hanish; Kristen M Danley; Margarita J Raygada; Owen M Rennert; Keri Martinowich; Stephen J Sharp; Jack W Tsao; Susan E Swedo
Journal:  Cortex       Date:  2013-02-19       Impact factor: 4.027

3.  Clinical utility gene card for: Aniridia.

Authors:  Rose Richardson; Melanie Hingorani; Veronica Van Heyningen; Cheryl Gregory-Evans; Mariya Moosajee
Journal:  Eur J Hum Genet       Date:  2016-07-06       Impact factor: 4.246

4.  Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.

Authors:  Fiona Blanco-Kelly; María Palomares; Elena Vallespín; Cristina Villaverde; Rubén Martín-Arenas; Camilo Vélez-Monsalve; Isabel Lorda-Sánchez; Julián Nevado; María José Trujillo-Tiebas; Pablo Lapunzina; Carmen Ayuso; Marta Corton
Journal:  PLoS One       Date:  2017-02-23       Impact factor: 3.240
  4 in total

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