Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication-Reference-Cited by-同舟云学术

Molecular cytogenetic characterization and genotype/phenotype analysis in a patient with a de novo 8p23.2p23.3 deletion/12p13.31p13.33 duplication

Published:2012-05-25 Issue:7 Volume:158A Page:1713-1718
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Margari Lucia,Di Cosola Maria Luisa,Buttiglione Maura,Pansini Angela,Buonadonna Antonia Lucia,Craig Francesco,Cariola Filomena,Petruzzelli Maria Giuseppina,Gentile Mattia

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.35400/fullpdf

Reference36 articles.

1. Cytogenetic and molecular analysis in trisomy 12p;Allen;Am J Med Genet,1996

2. Genotype-phenotype correlations in a new case of 8p23.1 deletion and review of the literature;Ballarati;Eur J Med Genet,2011

3. Partial monosomy 8p with minimal dysmorphic signs;Blennow;J Med Genet,1990

4. Monosomy 8p: An easily overlooked syndrome;Bröcker-Vriends;J Med Genet,1986

5. Identification and molecular characterization of two novel chromosomal deletions associated with autism;Chien;Clin Genet,2010

Cited by 5 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. Chromosomal Abnormalities in Syndromic Orofacial Clefts: Report of Three Children;Case Reports in Genetics;2018-09-09

2. Genotype/phenotype correlation in a female patient with 21q22.3 and 12p13.33 duplications;American Journal of Medical Genetics Part A;2016-01-08

3. Two New Cases of 1p21.3 Deletions and an Unbalanced Translocation t(8;12) among Individuals with Syndromic Obesity;Molecular Syndromology;2015-01-28

4. A locus on mouse Ch10 influences susceptibility to limbic seizure severity: fine mapping andin silicocandidate gene analysis;Genes, Brain and Behavior;2014-01-27

5. Mouse model implicates GNB3 duplication in a childhood obesity syndrome;Proceedings of the National Academy of Sciences;2013-08-26