Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association

PLoS ONE

Volumn 9, Issue 1, 2014, Pages

  Winberg, Johanna ^a   Gustavsson, Peter ^a,b   Papadogiannakis, Nikos ^a   Sahlin, Ellika ^a,b   Bradley, Frideborg ^a   Nordenskjöld, Edvard ^a   Svensson, Pär Johan ^a,b   Annerén, Göran ^c   Iwarsson, Erik ^a,b   Nordgren, Ann ^a,b   Nordenskjöld, Agneta ^a,b  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c UPPSALA UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHD7 GENE; CHROMOSOME TRANSLOCATION 18; CHROMOSOME TRANSLOCATION 9; CLINICAL ARTICLE; COHORT ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA MICROARRAY; FANCB GENE; FEMALE; FETUS; GENE; GENE DELETION; GENE DOSAGE; GENE MUTATION; HOXD13 GENE; HUMAN; MALE; MULTIPLE MALFORMATION SYNDROME; NUCLEOTIDE SEQUENCE; PCSK5 GENE; VACTERL ASSOCIATION;

AMINO ACID SEQUENCE; ANAL CANAL; BASE SEQUENCE; COMPARATIVE GENOMIC HYBRIDIZATION; DNA HELICASES; DNA-BINDING PROTEINS; ESOPHAGUS; FANCONI ANEMIA COMPLEMENTATION GROUP PROTEINS; FEMALE; FETUS; GENE DOSAGE; GENE EXPRESSION; GENETIC TESTING; HEART DEFECTS, CONGENITAL; HEMIZYGOTE; HUMANS; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; MOLECULAR SEQUENCE DATA; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SPINE; TRACHEA; TRANSLOCATION, GENETIC;

EID: 84897440928     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0085313     Document Type: Article

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