(Q51957535)

18 April 2018

title

No evidence for submicroscopic 22qter deletions in patients with features suggestive for Angelman syndrome. (English)

1 reference

18 April 2018

author name string

Bert B A de Vries

1

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18 April 2018

Jess Tyson

2

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18 April 2018

Robin M Winter

3

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18 April 2018

Sue Malcolm

4

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18 April 2018

publication date

1 April 2002

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18 April 2018

American Journal of Medical Genetics Part A

published in

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18 April 2018

volume

109

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18 April 2018

page(s)

117-120

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18 April 2018

issue

2

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18 April 2018

STS for minisatellite MS607 (D22S163).

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Cryptic terminal rearrangement of chromosome 22q13.32 detected by FISH in two unrelated patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

The spectrum of mutations in UBE3A causing Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Subtle chromosomal rearrangements in children with unexplained mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Mutation analysis of UBE3A in Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Terminal 22q deletion associated with a partial deficiency of arylsulphatase A

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Imprinting in Prader-Willi and Angelman syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Cryptic subtelomeric translocations in the 22q13 deletion syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Genetic evaluation of pervasive developmental disorders: the terminal 22q13 deletion syndrome may represent a recognizable phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Two 22q telomere deletions serendipitously detected by FISH

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Deletion mapping by FISH with BACs in patients with partial monosomy 22q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

A familial pericentric inversion of chromosome 22 with a recombinant subject illustrating a 'pure' partial monosomy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10318

21 January 2018

Identifiers

DOI

10.1002/AJMG.10318

1 reference

18 April 2018

PubMed ID

11977159

1 reference

18 April 2018