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Title

Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele

Authors
Radhakrishna, Uppala
Nath, Swapan K
McElreavey, Ken
Ratnamala, Uppala
Sun, Celi
Maiti, Amit K
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Published in Journal of Medical Genetics. 2012, vol. 49, no. 4, p. 270-6
Abstract Omphalocele is a congenital birth defect characterised by the presence of internal organs located outside of the ventral abdominal wall. The purpose of this study was to identify the underlying genetic mechanisms of a large autosomal dominant Caucasian family with omphalocele.
Keywords Chromosome DuplicationChromosomes, Human, Pair 1Comparative Genomic HybridizationDNA Copy Number VariationsFemaleGenes, DominantGenetic LinkageGenome-Wide Association StudyHaplotypesHernia, Umbilical/geneticsHumansLod ScoreMalePedigreePolymorphism, Single Nucleotide
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PMID: 22499347
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Article (Published version) (902 Kb) - document accessible for UNIGE members only Limited access to UNIGE
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Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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RADHAKRISHNA, Uppala et al. Genome-wide linkage and copy number variation analysis reveals 710 kb duplication on chromosome 1p31.3 responsible for autosomal dominant omphalocele. In: Journal of Medical Genetics, 2012, vol. 49, n° 4, p. 270-6. https://archive-ouverte.unige.ch/unige:34647

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Deposited on : 2014-03-07

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