The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome

Genome Research

Volumn 23, Issue 9, 2013, Pages 1410-1421

  Sailani, M Reza ^a   Makrythanasis, Periklis ^a   Valsesia, Armand ^b,c,d   Santoni, Federico A ^a   Deutsch, Samuel ^a   Popadin, Konstantin ^a   Borel, Christelle ^a   Migliavacca, Eugenia ^a   Sharp, Andrew J ^a,s   Sail, Genevieve Duriaux ^a   Falconnet, Emilie ^a   Rabionet, Kelly ^e,f,g   Serra Juhé, Clara ^f,h   Vicari, Stefano ⁱ   Laux, Daniela ^j   Grattau, Yann ^k   Dembour, Guy ^l   Megarbane, Andre ^k,m   Touraine, Renaud ⁿ   Stora, Samantha ^k   Kitsiou, Sofia ^o   Fryssira, Helena ^o   Chatzisevastou Loukidou, Chariklia ^o   Kanavakis, Emmanouel ^o   Merla, Giuseppe ^p   Bonnet, Damien ^j   Pérez Jurado, Luis A ^f,h   Estivill, Xavier ^e,f,g   Delabar, Jean M ^q   Antonarakis, Stylianos E ^a,r   more..

^a UNIVERSITY OF GENEVA   (Switzerland)

^b UNIVERSITY OF LAUSANNE   (Switzerland)

^c LUDWIG INSTITUTE FOR CANCER RESEARCH   (Switzerland)

^d SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^e Barcelona Biomedical Research Park   (Spain)

^f CENTRE FOR GENOMIC REGULATION CRG   (Spain)

^g CIBER EPIDEMIOLOGÍA Y SALUD PÚBLICA CIBERESP   (Spain)

^h UNIVERSITAT POMPEU FABRA   (Spain)

ⁱ BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^j UNIVERSITÉ PARIS DESCARTES   (France)

^k Institut Jerome Lejeune   (France)

^l CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^m Unite de Genetique Medicale et Laboratoire Associe INSERM UMR S910   (Lebanon)

ⁿ HÔPITAL NORD   (France)

^o UNIVERSITY OF ATHENS   (Greece)

^p CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^q Groupe Hospitalier Pitié Salpêtrière   (France)

^r Institute of Genetics and Genomics of Geneva (iGE3)   (Switzerland)

^s MOUNT SINAI SCHOOL OF MEDICINE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; SMAD2 PROTEIN; TRANSCRIPTION FACTOR GATA 4;

ALLELE; ARTICLE; CHROMOSOME 21; CONGENITAL HEART MALFORMATION; COPY NUMBER VARIATION; DIPLOIDY; DOWN SYNDROME; ENVIRONMENTAL FACTOR; EXON; GENE EXPRESSION; GENETIC ASSOCIATION; GENETIC VARIABILITY; PRIORITY JOURNAL; REPLICATION STUDY; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 21; DNA COPY NUMBER VARIATIONS; DNA-BINDING PROTEINS; DOWN SYNDROME; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HEART DEFECTS, CONGENITAL; HUMANS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR-INTERACTING PROTEIN SERINE-THREONINE KINASES; TRANSCRIPTION FACTORS;

EID: 84883659269     PISSN: 10889051     EISSN: 15495469     Source Type: Journal    
DOI: 10.1101/gr.147991.112     Document Type: Article

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