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Article

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

1 Apr 1996

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Share to Epigenetics and DNA Methylation
Share to Genetic Syndromes and Imprinting
Share to Prenatal Screening and Diagnostics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 8630505
DOI: 10.1038/ng0496-452

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpointPMID 8630505Read ↗

Prader-Willi Syndrome Is Caused by Disruption of the SNRPN GeneSemantic proximity Read ↗

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patientsSemantic proximity Read ↗

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome.Semantic proximity Read ↗

Prader-Willi syndrome phenotype in X chromosome anomalies: evidence for a distinct syndrome.Semantic proximity Read ↗

Establishment of the first WHO international genetic reference panel for Prader Willi and Angelman syndromesSemantic proximity Read ↗

Chromosome Breakage in the Prader-Willi and Angelman Syndromes Involves Recombination between Large, Transcribed Repeats at Proximal and Distal BreakpointsSemantic proximity Read ↗

The Diagnostic Journey of a Patient with Prader-Willi-Like Syndrome and a Unique Homozygous SNURF-SNRPN Variant; Bio-Molecular Analysis and Review of the Literature.Semantic proximity Read ↗

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA clusterSemantic proximity Read ↗

[Genomic imprinting in Prader-Willi syndrome].Semantic proximity Read ↗

A paternal deletion of MKRN3, MAGEL2 and NDN does not result in Prader–Willi syndromeSemantic proximity Read ↗

Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.Semantic proximity Read ↗

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader–Willi syndrome regionSemantic proximity Read ↗

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