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22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome

artículo científico publicado en 2008

Clinical implementation of chromosomal microarray analysis: summary of 2513 postnatal cases

artículo científico publicado en 2007

Confounding by repetitive elements and CpG islands does not explain the association between hypomethylation and genomic instability

artículo científico publicado en 2013

Development and validation of a CGH microarray for clinical cytogenetic diagnosis

article

Evidence for involvement of TRE-2 (USP6) oncogene, low-copy repeat and acrocentric heterochromatin in two families with chromosomal translocations

artículo científico publicado en 2006

Genomic hypomethylation in the human germline associates with selective structural mutability in the human genome

artículo científico publicado en 2012

Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis.

artículo científico publicado en 2008

Identification of chromosome abnormalities in subtelomeric regions by microarray analysis: a study of 5,380 cases

artículo científico publicado en 2008

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results

artículo científico publicado en 2010

Microarray-based CGH detects chromosomal mosaicism not revealed by conventional cytogenetics

article

Microarray-based comparative genomic hybridization using sex-matched reference DNA provides greater sensitivity for detection of sex chromosome imbalances than array-comparative genomic hybridization with sex-mismatched reference DNA

artículo científico publicado en 2009

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.

artículo científico publicado en 2008

Molecular mechanisms for subtelomeric rearrangements associated with the 9q34.3 microdeletion syndrome

artículo científico publicado en 2009

Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes

artículo científico publicado en 2011

Somatic cell hybrids, sequence-tagged sites, simple repeat polymorphisms, and yeast artificial chromosomes for physical and genetic mapping of proximal 17p ⬇️

artículo científico publicado el 1 de julio de 1992

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