Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: A recognizable microdeletion phenotype?-Reference-Cited by-同舟云学术

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: A recognizable microdeletion phenotype?

Published:2012-02 Issue:2 Volume:55 Page:151-155
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Moutton Sébastien,Rooryck Caroline,Toutain Jérôme,Cailley Dorothée,Bouron Julie,Villega Frédéric,Taupiac Emmanuelle,Lacombe Didier,Arveiler Benoît,Goizet Cyril

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference15 articles.

1. High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays;Pinkel;Nat. Genet.,1998

2. Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH);Schoumans;J. Med. Genet.,2005

3. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases;Shaffer;J. Pediatr.,2006

4. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports;Menten;J. Med. Genet.,2006

5. Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations;Pickering;Genet. Med.,2008

Cited by 8 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. Rare Case of a 20p13 Duplication Trisomy With Craniostenosis;Cureus;2024-06-08

2. Subtelomeric microdeletion in chromosome 20p13 associated with short stature;Clinical Case Reports;2024-06

3. Chromosome 20p Partial De Novo Duplication Identified in a Female Paediatric Patient with Characteristic Facial Dysmorphism and Behavioural Anomalies;Case Reports in Genetics;2020-07-11

4. Phenotypic features of a microdeletion in chromosome band 20p13: A case report and review of the literature;Molecular Genetics & Genomic Medicine;2019-05-13

5. Deletion of 20p13 and Duplication of 20p13p12.3 in a Patient with Delayed Speech and Development;Annals of Laboratory Medicine;2018-01-28