Characterization of the Chromosome 1q41q42.12 region, and the Candidate Gene DISP1, in Patients with CDH

Cytogenetic and molecular cytogenetic studies demonstrate association between congenital diaphragmatic hernia (CDH) and chromosome 1q41q42 deletions. In this study, we screened a large CDH cohort (N=179) for microdeletions in this interval by the multiplex ligation-dependent probe amplification (MLP...

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Detalhes bibliográficos
Main Authors: Kantarci, Sibel, Ackerman, Kate G, Russell, Meaghan N, Longoni, Mauro, Sougnez, Carrie, Noonan, Kristin M, Hatchwell, Eli, Zhang, Xiaoyun, Vanmarcke, Rafael Pieretti, Anyane-Yeboa, Kwame, Dickman, Paul, Wilson, Jay, Donahoe, Patricia K, Pober, Barbara R
Formato: Artigo
Idioma:Inglês
Publicado em: 2010
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3797530/
https://ncbi.nlm.nih.gov/pubmed/20799323
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.33618
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