Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH-Reference-Cited by-同舟云学术

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

Published:2017-02-23 Issue:2 Volume:12 Page:e0172363
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Blanco-Kelly Fiona,Palomares María,Vallespín Elena,Villaverde Cristina,Martín-Arenas Rubén,Vélez-Monsalve Camilo,Lorda-Sánchez Isabel,Nevado Julián,Trujillo-Tiebas María José,Lapunzina Pablo,Ayuso Carmen,Corton Marta

Funder

Cátedra de Patrocinio HU-FJD-UAM "Medicina Genómica"

Instituto de Salud Carlos III/FEDER

MINECO

Fundacion Mutua Madrileña

Instituto de salud Carlos III - RETICS

Instituto de Salud Carlos III - CIBERER

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference42 articles.

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2. Glaucoma and frequency of ocular and general diseases in 30 patients with aniridia: a clinical study;E Gramer;Eur J Ophthalmol,2012

3. Association of Wilms's Tumor with Aniridia, Hemihypertrophy and Other Congenital Malformations;RW Miller;N Engl J Med,1964

4. Aniridia;M Hingorani;Eur J Hum Genet,2012

5. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia;JA Crolla;Am J Hum Genet,2002

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3. A novel microdeletion of 517 kb downstream of the PAX6 gene in a Chinese family with congenital aniridia;BMC Ophthalmology;2023-09-26

4. A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD;BMC Medical Genomics;2023-08-04

5. Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases;Human Genomics;2023-06-02