(Q57990814)

4

object named as

Heidemarie Neitzel

0 references

Denise Horn

2

object named as

Denise Horn

0 references

author name string

Joachim Bürger

1

0 references

Holger Tönnies

American Journal of Medical Genetics Part A

3

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publication date

7 June 2002

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published in

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volume

111

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issue

3

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page(s)

233-237

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cites work

Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

Different mechanisms and recurrence risks of imprinting defects in Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

DNA deletion and its parental origin in Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

Imprinting-mutation mechanisms in Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498

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

21 January 2018

1 reference

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Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10498