New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

Human Mutation

Volumn 32, Issue 10, 2011, Pages 1171-1182

  Demars, Julie ^a   Rossignol, Sylvie ^b   Netchine, Irène ^b   Lee, Kai Syin ^a   Shmela, Mansur ^a   Faivre, Laurence ^c   Weill, Jacques ^d   Odent, Sylvie ^e   Azzi, Salah ^b   Callier, Patrick ^f   Lucas, Josette ^e   Dubourg, Christèle ^e   Andrieux, Joris ^d   Bouc, Yves Le ^b   El Osta, Assam ^a   Gicquel, Christine ^a  

^a BAKER IDI HEART AND DIABETES INSTITUTE   (Australia)

^b ARMAND TROUSSEAU HOSPITAL   (France)

^c UNIVERSITÉ DE BOURGOGNE   (France)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e PONTCHAILLOU UNIVERSITY HOSPITAL   (France)

^f DIJON UNIVERSITY HOSPITAL   (France)

Author keywords

11p15 region; Beckwith Wiedemann syndrome; Copy number variation; Fetal growth; Genomic imprinting; Silver Russell syndrome

Indexed keywords

ADULT; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CHROMOSOME 11P; DNA METHYLATION; EPIGENETICS; EXTRACHROMOSOMAL INHERITANCE; FEMALE; GENE DELETION; GENE DISRUPTION; GENE DUPLICATION; GENETIC VARIABILITY; GENOME IMPRINTING; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; SILVER RUSSELL SYNDROME; SINGLE NUCLEOTIDE POLYMORPHISM; UNIPARENTAL DISOMY;

ADULT; BASE SEQUENCE; BECKWITH-WIEDEMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 11; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; DNA METHYLATION; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; SILVER-RUSSELL SYNDROME;

EID: 80052965152     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21558     Document Type: Article

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