Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication-Reference-Cited by-同舟云学术

Clinical and molecular characterization of a large family with an interstitial 15q11q13 duplication

Published:2010-07-15 Issue:8 Volume:152A Page:1933-1941
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Piard Juliette,Philippe Christophe,Marvier Marie,Beneteau Claire,Roth Virginie,Valduga Mylène,Béri Mylène,Bonnet Céline,Grégoire Marie-José,Jonveaux Philippe,Leheup Bruno

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33521/fullpdf

Reference31 articles.

1. The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders;Bolton;Am J Med Genet,2001

2. A family with a grand-maternally derived interstitial duplication of proximal 15q;Boyar;Clin Genet,2001

3. Inherited interstitial duplications of proximal 15q: Genotype-phenotype correlations;Browne;Am J Hum Genet,1997

4. Echelle de développement de la première enfance, manuel BLR-C;Brunet-Lézine;Etablissements d'applications Psychotechniques.,1997

5. Proximal 15q familial euchromatic variant and PWS/AS critical region duplication in the same patient: A cytogenetic pitfall;Carelle-Calmels;Eur J Med Genet,2008

Cited by 29 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. Expanding deep phenotypic spectrum associated with atypical pathogenic structural variations overlapping 15q11–q13 imprinting region;Brain and Behavior;2024-04

2. UBE3A: The Role in Autism Spectrum Disorders (ASDs) and a Potential Candidate for Biomarker Studies and Designing Therapeutic Strategies;Diseases;2023-12-27

3. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles;European Journal of Human Genetics;2023-04-07

4. The Two-Stage Ensemble Learning Model Based on Aggregated Facial Features in Screening for Fetal Genetic Diseases;International Journal of Environmental Research and Public Health;2023-01-29

5. Population screening for 15q11-q13 duplications: corroboration of the difference in impact between maternally and paternally inherited alleles;2023-01-12