(Q40881136)

24 September 2017

title

De novo deletions of SNRPN exon 1 in early human and mouse embryos result in a paternal to maternal imprint switch (English)

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24 September 2017

Bielinska B

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24 September 2017

Blaydes SM

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24 September 2017

Buiting K

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24 September 2017

Yang T

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24 September 2017

Krajewska-Walasek M

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24 September 2017

Horsthemke B

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24 September 2017

Brannan CI

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24 September 2017

language of work or name

English

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publication date

1 May 2000

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24 September 2017

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24 September 2017

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24 September 2017

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24 September 2017

page(s)

74-78

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Imprinting in Prader-Willi and Angelman syndromes

24 September 2017

cites work

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A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region

21 January 2018

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The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse

21 January 2018

1 reference

The human MAGEL2 gene and its mouse homologue are paternally expressed and mapped to the Prader-Willi region

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

21 January 2018

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A mouse model for Prader-Willi syndrome imprinting-centre mutations

21 January 2018

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Molecular characterization of the mouse agouti locus.

21 January 2018

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Analysis of murine Snrpn and human SNRPN gene imprinting in transgenic mice

21 January 2018

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Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

21 January 2018

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Simplified mammalian DNA isolation procedure

21 January 2018

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The human necdin gene, NDN, is maternally imprinted and located in the Prader-Willi syndrome chromosomal region

21 January 2018

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Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20.

21 January 2018

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Targeted mutation of the DNA methyltransferase gene results in embryonic lethality

21 January 2018

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An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.

21 January 2018

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Imprinting of a RING zinc-finger encoding gene in the mouse chromosome region homologous to the Prader-Willi syndrome genetic region

21 January 2018

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Functional imprinting and epigenetic modification of the human SNRPN gene

21 January 2018

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Methylation analysis of the PWS/AS region does not support an enhancer-competition model

21 January 2018

1 reference

An insertion/deletion polymorphism at the D15S63 locus in the critical Prader-Willi syndrome region in 15q11-13

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1038/75629

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Dimensions Publication ID

24 September 2017

1014401904

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Fatcat ID

release_edpt5w46erf73pvbbnzbajmqjy

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Fatcat

https://api.fatcat.wiki/v0/release/edpt5w46erf73pvbbnzbajmqjy

mapped directly with Wikidata item

24 November 2022

based on heuristic

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