Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation (Q57557364)

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8 December 2019

title

Clinical characteristics of Angelman syndrome patients with a non-IC-deleted imprinting mutation (English)

1 reference

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8 December 2019

1 reference

1

1 reference

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8 December 2019

author name string

T Wada

2

1 reference

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8 December 2019

T Kuno

3

1 reference

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8 December 2019

K C Kim

4

1 reference

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8 December 2019

H Ohashi

5

1 reference

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8 December 2019

K Hashimoto

6

1 reference

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8 December 2019

N Niikawa

7

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8 December 2019

publication date

1 April 1999

1 reference

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8 December 2019

1 reference

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8 December 2019

volume

55

1 reference

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8 December 2019

issue

4

1 reference

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8 December 2019

page(s)

277-278

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8 December 2019

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550411.X

Mutation analysis of UBE3A in Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550411.X

Imprinting in Prader-Willi and Angelman syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550411.X

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/10.1034%2FJ.1399-0004.1999.550411.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550411.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550411.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550411.X

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/10.1034%2FJ.1399-0004.1999.550411.X

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550411.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.550411.X

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1034/J.1399-0004.1999.550411.X

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10361990%20AND%20SRC:MED&resulttype=core&format=json

8 December 2019

1 reference