A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15.

No abstract is available for this paper.

• Publication year

  2001

• Venue

  Human Molecular Genetics

• Publication date

  2001-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1093/HMG/10.3.201PMID 11159938
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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  2000cited by this paper
• Prader-Willi syndrome is caused by disruption of the SNRPN gene.

  1999cited by this paper
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  1999cited by this paper
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  1999cited by this paper
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  1999cited by this paper
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  1999cited by this paper
• The chromosome 15 imprinting centre (IC) region has undergone multiple duplication events and contains an upstream exon of SNRPN that is deleted in all Angelman syndrome patients with an IC microdeletion.

  1999cited by this paper
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  1999cited by this paper
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  1998cited by this paper
• A mouse model for Prader-Willi syndrome imprinting-centre mutations

  1998cited by this paper
• Identification of novel exons 3' to the human SNRPN gene.

  1997cited by this paper
• Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome.

  1997cited by this paper
• A Single-Tube PCR Test for the Diagnosis of Angelman and Prader-Willi Syndrome Based on Allelic Methylation Differences at the SNRPN Locus

  1997cited by this paper
• Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint

  1996cited by this paper
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  1996influential reference
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  1996influential reference
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  1996cited by this paper
• Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene.

  1996cited by this paper
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  1996cited by this paper
• Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene

  1996cited by this paper
• Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

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  1994influential reference
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  1994cited by this paper
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  1993cited by this paper
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  1992cited by this paper
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  1992cited by this paper
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  1992cited by this paper
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