(Q37087594)

18 August 2017

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title

Genomic imprinting and imprinting defects in humans (English)

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18 August 2017

2

Karin Buiting

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author name string

Bernhard Horsthemke

series ordinal

1

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18 August 2017

publication date

1 January 2008

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18 August 2017

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18 August 2017

volume

61

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18 August 2017

page(s)

225-246

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Gadd45a promotes epigenetic gene activation by repair-mediated DNA demethylation.

18 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Imprinting centre deletions in two PWS families: implications for diagnostic testing and genetic counseling

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Disruption of the bipartite imprinting center in a family with Angelman syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

C15orf2 and a novel noncoding transcript from the Prader-Willi/Angelman syndrome region show monoallelic expression in fetal brain.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

The Prader-Willi syndrome imprinting center activates the paternally expressed murine Ube3a antisense transcript but represses paternal Ube3a.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Maternal methylation imprints on human chromosome 15 are established during or after fertilization.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Identification of a testis-specific gene (C15orf2) in the Prader-Willi syndrome region on chromosome 15

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

EUKARYOTIC CYTOSINE METHYLTRANSFERASES

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Assisted reproduction: the epigenetic perspective

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Establishing the epigenetic status of the Prader-Willi/Angelman imprinting center in the gametes and embryo

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Control elements within the PWS/AS imprinting box and their function in the imprinting process

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Regulation of the large (approximately 1000 kb) imprinted murine Ube3a antisense transcript by alternative exons upstream of Snurf/Snrpn.

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Familial Prader-Willi syndrome: case report and a literature review

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Completion of mouse embryogenesis requires both the maternal and paternal genomes

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Submicroscopic deletion in cousins with Prader-Willi syndrome causes a grandmatrilineal inheritance pattern: effects of imprinting

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Mutations in NALP7 cause recurrent hydatidiform moles and reproductive wastage in humans

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Imprinting-mutation mechanisms in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Molecular mechanism of angelman syndrome in two large families involves an imprinting mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

The imprinting mechanism of the Prader-Willi/Angelman regional control center

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Microdeletion of target sites for insulator protein CTCF in a chromosome 11p15 imprinting center in Beckwith-Wiedemann syndrome and Wilms' tumor

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Deletion analysis of the imprinting center region in patients with Angelman syndrome and Prader-Willi syndrome by real-time quantitative PCR

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Epigenetic reprogramming in mammalian development

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

A familial deletion in the Prader-Willi syndrome region including the imprinting control region

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

In vivo nuclease hypersensitivity studies reveal multiple sites of parental origin-dependent differential chromatin conformation in the 150 kb SNRPN transcription unit

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

The imprinting box of the Prader-Willi/Angelman syndrome domain

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Development of reconstituted mouse eggs suggests imprinting of the genome during gametogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

What good is genomic imprinting: the function of parent-specific gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Deficiency of Rbbp1/Arid4a and Rbbp1l1/Arid4b alters epigenetic modifications and suppresses an imprinting defect in the PWS/AS domain

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

Identification of cis- and trans-acting factors possibly modifying the risk of epimutations on chromosome 15

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

The role of histone modifications in epigenetic transitions during normal and perturbed development

1 reference

https://api.crossref.org/works/10.1016%2FS0065-2660%2807%2900008-9

7 January 2021

10.1016/S0065-2660(07)00008-9

Identifiers

DOI

1 reference

18 August 2017

1 reference