Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification: Early diagnosis of syndromic patients

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 4, 2012, Pages 720-725

  Sørensen, Karina Meden ^a,b   El Segaier, Milad ^c   Fernlund, Eva ^c   Errami, Ab ^d   Bouvagnet, Patrice ^e,f   Nehme, Nancy ^e,f   Steensberg, Jesper ^g   Hjortdal, Vibeke ^h   Soller, Maria ^c   Behjati, Mohaddeseh ⁱ   Werge, Thomas ^g   Kirchoff, Maria ^j   Schouten, Jan ^d   Tommerup, Niels ^b   Andersen, Paal Skytt ^a   Larsen, Lars Allan ^b  

^a STATENS SERUM INSTITUT   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c LUND UNIVERSITY HOSPITAL   (Sweden)

^d MRC HOLLAND   (Netherlands)

^e HOSPICES CIVILS DE LYON   (France)

^f UNIVERSITÉ DE LYON   (France)

^g Mental Health Services CPH   (Denmark)

^h AARHUS UNIVERSITY HOSPITAL   (Denmark)

ⁱ ISFAHAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^j Rigshospitalet   (Denmark)

more..

Author keywords

Congenital heart disease; Copy number variants, CNVs; MLPA; Multiplex ligation dependent probe amplification

Indexed keywords

DNA;

ADOLESCENT; ARTICLE; BLOOD SAMPLING; CHILD; CHROMOSOME 17P; CHROMOSOME 22Q; CHROMOSOME 2P; CHROMOSOME 5Q; CHROMOSOME 8P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CONGENITAL HEART DISEASE; COPY NUMBER VARIATION; DENMARK; DNA EXTRACTION; EARLY DIAGNOSIS; FRANCE; GENETIC ANALYSIS; HERITABILITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PEDIATRIC CARDIOLOGY; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SCREENING TEST; SWEDEN;

ADOLESCENT; AGED; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DOSAGE; HEART DEFECTS, CONGENITAL; HEART DISEASES; HUMANS; INFANT; INFANT, NEWBORN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; NUCLEIC ACID AMPLIFICATION TECHNIQUES;

EID: 84859005021     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35214     Document Type: Article

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