(Q34304987)

1 August 2017

title

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

1 reference

Gabriele Gillessen-Kaesbach

1 August 2017

author

3

object named as

Gabriele Gillessen-Kaesbach

0 references

Karin Buiting

9

object named as

Karin Buiting

0 references

Denise Horn

5

object named as

Denise Horn

1 reference

1 August 2017

2

Peter M Kroisel

1 reference

1 August 2017

Maren Runte

1

1 reference

1 August 2017

Raymonda Varon

4

1 reference

1 August 2017

Monika Y Cohen

6

1 reference

1 August 2017

Joseph Wagstaff

7

1 reference

1 August 2017

Bernhard Horsthemke

8

1 reference

1 August 2017

publication date

10 March 2004

1 reference

1 August 2017

1 reference

1 August 2017

volume

114

1 reference

1 August 2017

issue

6

1 reference

1 August 2017

page(s)

553-561

1 reference

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

1 August 2017

cites work

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

The spectrum of mutations in UBE3A causing Angelman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Screening for UBE3A gene mutations in a group of Angelman syndrome patients selected according to non-stringent clinical criteria.

1 reference

12 December 2020

Killing the messenger: new insights into nonsense-mediated mRNA decay

1 reference

12 December 2020

The non-coding Air RNA is required for silencing autosomal imprinted genes

1 reference

12 December 2020

Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications

1 reference

12 December 2020

Imprinted expression of the Igf2r gene depends on an intronic CpG island.

1 reference

12 December 2020

Identification of novel exons 3' to the human SNRPN gene

1 reference

12 December 2020

Targeted disruption of the human LIT1 locus defines a putative imprinting control element playing an essential role in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Regional loss of imprinting and growth deficiency in mice with a targeted deletion of KvDMR1

1 reference

12 December 2020

Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization

1 reference

12 December 2020

A translocation breakpoint cluster disrupts the newly defined 3' end of the SNURF-SNRPN transcription unit on chromosome 15

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation analysis of UBE3A in Angelman syndrome patients

1 reference

12 December 2020

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a

1 reference

12 December 2020

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

1 reference

12 December 2020

An imprinted, mammalian bicistronic transcript encodes two independent proteins

1 reference

12 December 2020

10.1007/S00439-004-1104-Z

Identifiers

DOI

1 reference

Dimensions Publication ID

1 August 2017

1008321944

0 references

1 reference