Contribution of Rare Copy Number Variants to Isolated Human Malformations

PLoS ONE

Volumn 7, Issue 10, 2012, Pages

  Serra Juhé, Clara ^a,b   Rodríguez Santiago, Benjamín ^c   Cuscó, Ivon ^a,b   Vendrell, Teresa ^d   Camats, Núria ^d   Torán, Núria ^d   Pérez Jurado, Luis A ^a,b  

^a UNIVERSITAT POMPEU FABRA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c Quantitative Genomic Medicine Laboratories (qGenomics)   (Spain)

^d HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; BRAIN MALFORMATION; CHROMOSOME REARRANGEMENT; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DNA EXTRACTION; FETUS; GENE DELETION; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC IDENTIFICATION; GENETIC SUSCEPTIBILITY; HEART HYPOPLASIA; HUMAN; HUMAN TISSUE; INHERITANCE; KARYOTYPING; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; VALIDATION PROCESS;

CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL ABNORMALITIES; DNA COPY NUMBER VARIATIONS; FEMALE; FETAL DISEASES; GENETIC COUNSELING; GENOTYPE; GENOTYPING TECHNIQUES; HUMANS; MALE; MULTIPLEX POLYMERASE CHAIN REACTION;

EID: 84867060058     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0045530     Document Type: Article

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