Prader-Willi syndrome is caused by disruption of the SNRPN gene (Q24540023)

2

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G Mohapatra

3

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C Gregorio-King

4

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T A Donlon

American Journal of Human Genetics

5

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language of work or name

English

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publication date

January 1999

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published in

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volume

64

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issue

1

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page(s)

70-6

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cites work

Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

Breakage in the SNRPN locus in a balanced 46,XY,t(15;19) Prader-Willi syndrome patient

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

Prader-Willi syndrome: consensus diagnostic criteria.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24].

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

High-resolution chromosome analysis in clinical medicine

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

Separation of large DNA molecules by contour-clamped homogeneous electric fields

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

Balanced Translocation 46, XY, t(2;15)(q37.2;q11.2) Associated with Atypical Prader-Willi Syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

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

29 November 2018

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377704

29 November 2018

https://api.crossref.org/works/10.1086/302177

7 January 2021

inferred from DOI database lookup

Industrial Synthesis of ( )-cis-Methyl Dihydrojasmonate by Enantioselective Catalytic Hydrogenation; Identification of the Precatalyst

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9918635

12 December 2020

inferred from PubMed ID database lookup

A rapid banding technique for human chromosomes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9918635

12 December 2020

inferred from PubMed ID database lookup

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9918635

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/302177

1 reference

1 reference

1 reference

PubMed publication ID

9918635

1 reference