Genetic, genomic and epigenetic alterations in congenital malformations : implications in genetic counseling

Genetic, genomic and epigenetic alterations in congenital malformations : implications in genetic counseling

Mechanisms underlying congenital malformations are largely unknown despite its high incidence, affecting 2-3% of liveborn infants. A broader knowledge about the causes of birth defects would provide valuable information regarding the outcome and prognosis of the anomaly, the development and establis...

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Bibliographic Details
Main Author: Serra Juhé, Clara, 1984-
Other Authors: Pérez Jurado, Luis Alberto
Format: Doctoral Thesis
Language:English
Published: Universitat Pompeu Fabra 2012
Subjects:
Malformacions congènites
Malformacions cardíaques congènites
Epigenètica
Variacions en número de còpia (CNV)
Mutacions puntuals
Assessorament genètic
Análisis cromosòmica en micromatrius
Seqüenciació d’exoma
Metilació del DNA
Congenital malformations
Congenital heart defects
Epigenetics
Copy number variation (CNV)
Point mutations
Genetic counseling
Chromosomal microarray analysis
Exome sequencing
DNA methylation
575
Online Access:http://hdl.handle.net/10803/96194

Internet

http://hdl.handle.net/10803/96194

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