Genomic imbalances in craniofacial microsomia-Reference-Cited by-同舟云学术

Genomic imbalances in craniofacial microsomia

Published:2020-11-20 Issue:4 Volume:184 Page:970-985
ISSN:1552-4868
Container-title:American Journal of Medical Genetics Part C: Seminars in Medical Genetics
language:en
Short-container-title:Am J Med Genet

Author:

Spineli‐Silva Samira¹,Sgardioli Ilária C.¹^ORCID,Santos Ana P.¹,Bergamini Luna L.²,Monlleó Isabella L.²³,Fontes Marshall I. B.³,Félix Têmis M.⁴^ORCID,Ribeiro Erlane M.⁵,Xavier Ana C.⁶,Lustosa‐Mendes Elaine⁷,Gil‐da‐Silva‐Lopes Vera L.¹^ORCID,Vieira Tarsis P.¹^ORCID

Affiliation:

1. Department of Medical Genetics and Genomic Medicine School of Medical Sciences, State University of Campinas (Unicamp) Campinas Brazil

2. Faculty of Medicine Federal University of Alagoas (UFAL) Maceió Brazil

3. Clinical Genetics Service University Hospital, Federal University of Alagoas (UFAL) Maceió Brazil

4. Medical Genetics Service Clinical Hospital of Porto Alegre (HCPA) Porto Alegre Brazil

5. Medical Genetics Service Hospital Infantil Albert Sabin (HIAS) Fortaleza Brazil

6. Centre for Research and Rehabilitation of Lip and Palate Lesions Centrinho Prefeito Luiz Gomes Joinville Brazil

7. Assistance Centre for Cleft Lip and Palate – CAIF‐AFISSUR Curitiba Brazil

Funder

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.c.31857

Reference35 articles.

1. Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly;Ala‐Mello S.;American Journal of Medical Genetics Part A,2008

2. Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

3. Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update

4. Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients

5. Reliable classification of facial phenotypic variation in craniofacial microsomia: A comparison of physical exam and photographs;Birgfeld C. B.;Head & Face Medicine,2016

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1. Bioinformatics Analysis of Hub Genes in Craniofacial Microsomia Combined With Congenital Heart Disease;Journal of Craniofacial Surgery;2024-05-09

2. Whole genome sequencing of a family with autosomal dominant features within the oculoauriculovertebral spectrum;2024-02-07

3. Craniofacial Microsomia, Associated Congenital Anomalies, and Risk Factors in 63 Cases from the Alberta Congenital Anomalies Surveillance System;The Journal of Pediatrics;2023-10

4. Expanding the Etiology of Oculo–Auriculo–Vertebral Spectrum: A Novel Interstitial Microdeletion at 1p36;International Journal of Molecular Sciences;2022-12-20

5. OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum;Journal of Medical Genetics;2022-11-11