(Q34245057)

31 July 2017

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title

Angelman syndrome: mimicking conditions and phenotypes (English)

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31 July 2017

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C A Williams

1

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31 July 2017

A Lossie

series ordinal

2

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31 July 2017

D Driscoll

series ordinal

3

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31 July 2017

R.C. Phillips Unit

series ordinal

4

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31 July 2017

publication date

1 June 2001

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American Journal of Medical Genetics Part A

31 July 2017

published in

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31 July 2017

volume

101

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31 July 2017

issue

1

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31 July 2017

page(s)

59-64

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

31 July 2017

cites work

1 reference

‘Puppet’ Children A Report on Three Cases

21 January 2018

1 reference

Cerebral palsy and neurodegenerative disease

21 January 2018

1 reference

The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

21 January 2018

1 reference

21 January 2018

1 reference

21 January 2018

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Rett syndrome: significant clinical overlap with Angelman syndrome but not with methylation status

21 January 2018

1 reference

Clinical and hematologic aspects of the X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).

21 January 2018

1 reference

Genetics of Angelman syndrome

21 January 2018

1 reference

Towards a molecular understanding of Prader-Willi and Angelman syndromes

21 January 2018

1 reference

Slow spike-wave activity in EEG and associated clinical features: Often called 'Lennox' or 'Lennox-Gastaut' syndrome

21 January 2018

1 reference

Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24).

21 January 2018

1 reference

Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23

21 January 2018

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Neurologic presentations of mitochondrial disorders.

21 January 2018

1 reference

Cryptic subtelomeric translocations in the 22q13 deletion syndrome

21 January 2018

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Two 22q telomere deletions serendipitously detected by FISH

21 January 2018

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Occurrence, outcome, and prognostic factors of infantile spasms and Lennox-Gastaut syndrome

21 January 2018

1 reference

Interstitial duplications of chromosome region 15q11q13: clinical and molecular characterization.

21 January 2018

1 reference

Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12

21 January 2018

1 reference

Autism and maternally derived aberrations of chromosome 15q.

21 January 2018

1 reference

Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions

21 January 2018

1 reference

Autism in Angelman syndrome: a population-based study

21 January 2018

1 reference

21 January 2018

1 reference

Practice parameters for the assessment and treatment of children, adolescents, and adults with autism and other pervasive developmental disorders. American Academy of Child and Adolescent Psychiatry Working Group on Quality Issues

21 January 2018

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Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

21 January 2018

1 reference

Mutation screening in Rett syndrome patients.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/AJMG.1316

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31 July 2017

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