Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene (Q28292239)

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K Buiting

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B Korn

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S Rickard

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J Buxton

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R D Nicholls

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A Poustka

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A Winterpacht

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B Zabel

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B Horsthemke

https://scigraph.springernature.com/pub.10.1038/ng1096-163

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language of work or name

English

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publication date

October 1996

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published in

Nature Genetics

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volume

14

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issue

2

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page(s)

163-70

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exact match

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cites work

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Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

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The product of the mouse Xist gene is a 15 kb inactive X-specific transcript containing no conserved ORF and located in the nucleus

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Chromatin multiprotein complexes involved in the maintenance of transcription patterns

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Functional imprinting and epigenetic modification of the human SNRPN gene

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Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E).

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Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome

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Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

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Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

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Identification of a novel paternally expressed gene in the Prader-Willi syndrome region

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A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

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Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

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Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.

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Modification of 15q11-q13 DNA methylation imprints in unique Angelman and Prader-Willi patients

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Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications

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Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

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Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

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Is Angelman syndrome an alternate result of del(15)(q11q13)?

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The association of Angelman's syndrome with deletions within 15q11-13

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Maternal but not paternal transmission of 15q11-13-linked nondeletion Angelman syndrome leads to phenotypic expression

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Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations.

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A strategy for the selection of transcribed sequences in the Xq28 region

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Imprinting mutations in the Beckwith-Wiedemann syndrome suggested by altered imprinting pattern in the IGF2-H19 domain.

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The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7

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Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse

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Molecular mechanisms in Angelman syndrome: a survey of 93 patients

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A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

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Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus

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