(Q22253999)

GOA release 2020-03-11

spermatogenesis

1 reference

GOA release 2020-03-11

Prader–Willi syndrome

1 reference

C Färber

1

C

Färber

1 reference

8 February 2023

S Gross

2

S

Gross

1 reference

8 February 2023

J Neesen

3

J

Neesen

1 reference

8 February 2023

K Buiting

4

K

Buiting

1 reference

8 February 2023

B Horsthemke

5

B

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

Horsthemke

1 reference

8 February 2023

language of work or name

English

0 references

publication date

15 April 2000

0 references

published in

Genomics

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volume

65

0 references

page(s)

174-83

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issue

2

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cites work

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Sex difference in methylation of single-copy genes in human meiotic germ cells: Implications for X chromosome inactivation, parental imprinting, and origin of CpG mutations

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

CpG islands in vertebrate genomes

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

DNA methylation and genomic imprinting

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

How the messenger got its tail: addition of poly(A) in the nucleus

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Imprinting in Prader-Willi and Angelman syndromes.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Germ cell-specific enhancer activity of a repeated element in a variable region of the mouse genome.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Transcriptional promiscuity in testes

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

The imprinting box of the mouse Igf2r gene

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

CpG-rich islands and the function of DNA methylation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Sp1 elements protect a CpG island from de novo methylation

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

DNA methylation represses transcription in vivo.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

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/10.1006%2FGENO.2000.6158

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/10.1006%2FGENO.2000.6158

7 January 2021

Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in brain.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Methylation patterns of testis-specific genes

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Analysis of the mouse protamine 1 promoter in transgenic mice

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

An imprinted, mammalian bicistronic transcript encodes two independent proteins

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Two distinct forms of the 64,000 Mr protein of the cleavage stimulation factor are expressed in mouse male germ cells

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

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/10.1006%2FGENO.2000.6158

7 January 2021

Molecular cloning of mouse somatic and testis-specific H2B histone genes containing a methylated CpG island.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Cleavage site determinants in the mammalian polyadenylation signal

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Testis-specific and ubiquitous proteins bind to functionally important regions of the mouse protamine-1 promoter.

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

A Gene-Specific Promoter in Transgenic Mice Directs Testis-Specific Demethylation Prior to Transcriptional Activation In Vivo1

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

The E6-Ap ubiquitin-protein ligase (UBE3A) gene is localized within a narrowed Angelman syndrome critical region

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

‘Puppet’ Children A Report on Three Cases

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021

Demethylation of somatic and testis-specific histone H2A and H2B genes in F9 embryonal carcinoma cells

1 reference

https://api.crossref.org/works/10.1006%2FGENO.2000.6158

7 January 2021