(Q28292519)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8845846%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

title

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

1 reference

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20 October 2019

1 reference

Prader–Willi syndrome

1 reference

4

1 reference

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20 October 2019

author name string

Y Sun

1

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20 October 2019

R D Nicholls

2

1 reference

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20 October 2019

M G Butler

3

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20 October 2019

B E Hainline

5

1 reference

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20 October 2019

C G Palmer

6

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20 October 2019

language of work or name

English

0 references

publication date

1 April 1996

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20 October 2019

published in

Human Molecular Genetics

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20 October 2019

volume

5

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20 October 2019

page(s)

517-524

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20 October 2019

issue

4

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A variety of genetic mechanisms are associated with the Prader-Willi syndrome

20 October 2019

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

Allele-specific replication timing of imprinted gene regions

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

1 reference

12 December 2020

Prader-Willi syndrome: consensus diagnostic criteria.

1 reference

12 December 2020

Sequence-independent amplification and labeling of yeast artificial chromosomes for fluorescence in situ hybridization

1 reference

12 December 2020

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

1 reference

12 December 2020

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes

1 reference

12 December 2020

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

1 reference

12 December 2020

Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region

1 reference

12 December 2020

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

12 December 2020

Molecular definition of the Prader-Willi syndrome chromosome region and orientation of the SNRPN gene

1 reference

12 December 2020

Tissue-specific expression and cDNA cloning of small nuclear ribonucleoprotein-associated polypeptide N.

1 reference

12 December 2020

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

1 reference

12 December 2020

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

1 reference

12 December 2020

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome

1 reference

12 December 2020

On the parental origin of de novo mutation in man.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Prader-Willi syndrome: current understanding of cause and diagnosis

1 reference

12 December 2020

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

1 reference

12 December 2020

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

1 reference

12 December 2020

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

1 reference

12 December 2020

The gene encoding the small nuclear ribonucleoprotein-associated protein N is expressed at high levels in neurons

1 reference

12 December 2020

New insights reveal complex mechanisms involved in genomic imprinting.

1 reference

12 December 2020

A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Nonreciprocal and jumping translocations of 15q1----qter in Prader-Willi syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Translocations in Prader-Willi syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/5.4.517

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8845846%20AND%20SRC:MED&resulttype=core&format=json

release_ohmdzn6i3zhv5cza44au3wfe3i

20 October 2019

Fatcat ID

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Fatcat

https://api.fatcat.wiki/v0/release/ohmdzn6i3zhv5cza44au3wfe3i

24 November 2022

mapped directly with Wikidata item

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8845846%20AND%20SRC:MED&resulttype=core&format=json

20 October 2019

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