Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes-Reference-Cited by-同舟云学术

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Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes

Published:2015-10-07 Issue:1 Volume:170 Page:24-31
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Urreizti Roser¹,Roca-Ayats Neus¹,Trepat Judith¹,Garcia-Garcia Francisco²³,Aleman Alejandro³,Orteschi Daniela⁴,Marangi Giuseppe⁴,Neri Giovanni⁴,Opitz John M.⁵,Dopazo Joaquin²³,Cormand Bru¹,Vilageliu Lluïsa¹,Balcells Susana¹,Grinberg Daniel¹

Affiliation:

1. Department of Genetics, Faculty of Biology; Universitat de Barcelona, CIBERER, IBUB; Barcelona Spain

2. Department of Computational Genomics; Centro Investigación Prí; ncipe Felipe; Valencia Spain

3. BIER, CIBERER; Valencia Spain

4. Istituto Genetica Medica; Università Cattolica Sacro Cuore; Policlínico A Gemelli Roma Italy

5. Pediatrics; University of Utah School of Medicine; Salt Lake City Utah

Funder

Associació Síndrome Opitz C, Terrassa, Spain

Spanish Ministerio de Ciencia e Innovación

Catalan Government

CIBERER

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37418/fullpdf

Reference26 articles.

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2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

3. Arrhythmogenic right ventricular cardiomyopathy: The challenge of genetic interpretation in clinically suspected cases;Anastasakis;Cardiology,2012

4. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants;Andreasen;Eur J Hum Genet,2013

5. Further delineation of the C (trigonocephaly) syndrome;Antley;Am J Med Genet,1981

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genome-wide prediction of dominant and recessive neurodevelopmental disorder risk genes;2022-11-21

2. A de novo Variant of ASXL1 Is Associated With an Atypical Phenotype of Bohring-Opitz Syndrome: Case Report and Literature Review;Frontiers in Pediatrics;2021-08-30

3. Polycomb-dependent histone H2A ubiquitination links developmental disorders with cancer;Trends in Genetics;2021-08

4. Novel truncating mutations in ASXL1 identified in two boys with Bohring-Opitz syndrome;European Journal of Medical Genetics;2021-03

5. A de novo truncating mutation in ASXL1 associated with segmental overgrowth;Journal of Genetics;2019-11-22

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