Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1-Reference-Cited by-同舟云学术

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1

Published:2014-11-05 Issue:8 Volume:23 Page:1010-1018
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

El Khattabi Laïla,Guimiot Fabien,Pipiras Eva,Andrieux Joris,Baumann Clarisse,Bouquillon Sonia,Delezoide Anne-Lise,Delobel Bruno,Demurger Florence,Dessuant Hélène,Drunat Séverine,Dubourg Christelle,Dupont Céline,Faivre Laurence,Holder-Espinasse Muriel,Jaillard Sylvie,Journel Hubert,Lyonnet Stanislas,Malan Valérie,Masurel Alice,Marle Nathalie,Missirian Chantal,Moerman Alexandre,Moncla Anne,Odent Sylvie,Palumbo Orazio^ORCID,Palumbo Pietro,Ravel Aimé,Romana Serge,Tabet Anne-Claude,Valduga Mylène,Vermelle Marie,Carella Massimo,Dupont Jean-Michel,Verloes Alain^ORCID,Benzacken Brigitte,Delahaye Andrée

Publisher

Springer Science and Business Media LLC

Link

https://www.nature.com/articles/ejhg2014230.pdf

Reference57 articles.

1. Cassidy SB, Schwartz S, Miller JL, Driscoll DJ : Prader-Willi syndrome. GenetMed 2012; 14: 10–26.

2. Holm VA, Cassidy SB, Butler MG et al: Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993; 91: 398–402.

3. D'Angelo CS, Kohl I, Varela MC et al: Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants. Am J Med Genet A 2013; 161A: 479–486.

4. Cox H, Bullman H, Temple IK : Maternal UPD(14) in the patient with a normal karyotype: clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome. Am J Med Genet A 2004; 127A: 21–25.

5. Hosoki K, Kagami M, Tanaka T et al: Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype. J Pediatr 2009; 155: 900–903, e901.

Cited by 31 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. A Comprehensive Review of Syndromic Forms of Obesity: Genetic Etiology, Clinical Features and Molecular Diagnosis;Current Obesity Reports;2024-01-26

2. Rare genetic forms of obesity in childhood and adolescence, a comprehensive review of their molecular mechanisms and diagnostic approach;European Journal of Pediatrics;2023-08-23

3. Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review;Seizure: European Journal of Epilepsy;2023-07

4. Research Article Genotypic and phenotypic relationship between Prader-Willi and Prader-Willi-Like syndromes;Genetics and Molecular Research;2023

5. Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome;Neurology Genetics;2022-12