Prader-Willi Syndrome Is Caused by Disruption of the SNRPN Gene
- 1 January 1999
- journal article
- case report
- Published by Elsevier in American Journal of Human Genetics
- Vol. 64 (1) , 70-76
- https://doi.org/10.1086/302177
Abstract
No abstract availableKeywords
This publication has 25 references indexed in Scilit:
- Industrial Synthesis of (+)-cis-Methyl Dihydrojasmonate by Enantioselective Catalytic Hydrogenation; Identification of the Precatalyst [Ru((−)-Me-DuPHOS)(H)(η6-1,3,5-cyclooctatriene)](BF4)Angewandte Chemie International Edition in English, 2000
- Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN geneNature Genetics, 1996
- Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpointNature Genetics, 1996
- Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15Nature Genetics, 1995
- Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control regionNature Genetics, 1994
- A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11–q13) and refined localization of the SNRPN geneGenomics, 1993
- Functional imprinting and epigenetic modification of the human SNRPN geneHuman Molecular Genetics, 1993
- Characterization of a methylation imprint in the Prader — Willi syndrome chromosome regionHuman Molecular Genetics, 1993
- Modification of 15q11 — q13 DNA methylation imprints in unique Angelman and Prader — Willi patientsHuman Molecular Genetics, 1993
- Deletions of Chromosome 15 as a Cause of the Prader–Willi SyndromeNew England Journal of Medicine, 1981