Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7-Reference-Cited by-同舟云学术

Cytogenomic and phenotypic analysis in low-level monosomy 7 mosaicism with non-supernumerary ring chromosome 7

Published:2014-03-26 Issue:7 Volume:164 Page:1765-1769
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Salas-Labadía Consuelo¹,Cervantes-Barragán David E.¹²,Cruz-Alcívar Roberto¹,Daber Robert D.³,Conlin Laura K.³,Leonard Laura D.³,Spinner Nancy B.³,Durán-McKinster Carola⁴,Dávila-Ortíz de Montellano David J.⁵,Del Castillo-Ruiz Victoria⁶,Pérez-Vera Patricia¹

Affiliation:

1. Laboratorio de Cultivo de Tejidos; Departamento de Genética Humana; Instituto Nacional de Pediatría; México DF Mexico

2. Current affiliation: Servicio de Genética; Hospital Central Sur de Alta Especialidad; PEMEX Picacho; México DF Mexico

3. Department of Pathology and Laboratory Medicine; Children's Hospital of Philadelphia; Pennsylvania

4. Departamento de Dermatología; Instituto Nacional de Pediatría; México DF Mexico

5. Departamento de Neurogenética; Instituto Nacional de Neurología y Neurocirugía “Manuel Velasco Suárez”; México DF Mexico

6. Departamento de Investigación en Genética Humana; Instituto Nacional de Pediatría; México DF Mexico

Funder

CONACyT

Federal Funds

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference27 articles.

1. Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies;Bakrania;Am J Med Genet Part A,2010

2. Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patients;Conlin;J Med Genet,2011

3. Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis;Conlin;Hum Mol Genet,2010

4. Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation;Crétolle;Hum Mut,2008

5. SUN1 is required for telomere attachment to nuclear envelope and gametogenesis in mice;Ding;Dev Cell,2007

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