Expanding the phenotype of the X-linked BCOR microphthalmia syndromes-Reference-Cited by-同舟云学术

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Expanding the phenotype of the X-linked BCOR microphthalmia syndromes

Published:2018-07-04 Issue:8-9 Volume:138 Page:1051-1069
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Ragge Nicola^ORCID, ,Isidor Bertrand,Bitoun Pierre,Odent Sylvie,Giurgea Irina,Cogné Benjamin,Deb Wallid,Vincent Marie,Le Gall Jessica,Morton Jenny,Lim Derek,Le Meur Guylène,Zazo Seco Celia,Zafeiropoulou Dimitra,Bax Dorine,Zwijnenburg Petra,Arteche Anara,Swafiri Saoud Tahsin,Cleaver Ruth,McEntagart Meriel,Kini Usha,Newman William,Ayuso Carmen,Corton Marta,Herenger Yvan,Jeanne Médéric,Calvas Patrick,Chassaing Nicolas

Funder

Clinical Research Hospital Program from the French Ministry of Health

Fondation of France

Fondation Maladies Rares

Berthe Fouassier

Rétina France

VICTA

MACS

Baillie Gifford

Spanish Institute of Health Carlos III

Spanish Ministry of Economy and Competitiveness

Mutua Madrileña Foundation

Health Innovation Challenge Fund

Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute

National Institute for Health Research

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-018-1896-x.pdf

Reference42 articles.

1. Acampora D, Mazan S, Avantaggiato V, Barone P, Tuorto F, Lallemand Y, Brulet P, Simeone A (1996) Epilepsy and brain abnormalities in mice lacking the Otx1 gene. Nat Genet 14:218–222

2. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P et al (2010) A method and server for predicting damaging missense mutations. Nat Methods 7:248–249

3. Amos-Landgraf JM, Cottle A, Plenge RM, Friez M, Schwartz CE.

4. Bakrania P, Robinson DO, Bunyan DJ, Salt A, Martin A, Crolla JA, Wyatt A, Fielder A, Ainsworth J, Moore A, Read S, Uddin J, Laws D, Pascuel-Salcedo D, Ayuso C, Allen L, Collin JR, Ragge NK (2007) SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol 91(11):1471–1476

5. Danda S, van Rahden VA, John D, Paul P, Raju R, Koshy S, Kutsche K (2014) Evidence of germline Mosaicism for a novel BCOr mutation in two indian sisters with oculo-facio-cardio dental syndrome. Mol Syndromol 5(5):251–256

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1. Hao-Fountain syndrome protein USP7 controls neuronal differentiation via BCOR-ncPRC1.1;2024-08-04

2. Nonsense-mediated mRNA decay affects hyperactive root formation in oculo-facio-cardio-dental syndrome via up-frameshift protein 1;Journal of Oral Biosciences;2024-03

3. Polycomb Repressive Complex 1.1 Component, BCOR, Promotes Syncytiotrophoblast Differentiation in Mice and Humans;2024-01-29

4. Oculo-facio-cardio-dental (OFCD) syndrome: a case report;Journal of Medical Case Reports;2024-01-04

5. Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum;Genes;2023-10-17

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