Angelman syndrome: mimicking conditions and phenotypes (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

1 June 2001

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American Journal of Medical Genetics Part A

31 July 2017

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31 July 2017

101

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31 July 2017

59-64

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31 July 2017

1

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

31 July 2017

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‘Puppet’ Children A Report on Three Cases

21 January 2018

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Cerebral palsy and neurodegenerative disease

21 January 2018

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

21 January 2018

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21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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Genetics of Angelman syndrome

21 January 2018

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Towards a molecular understanding of Prader-Willi and Angelman syndromes

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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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

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

21 January 2018

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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

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Autism and maternally derived aberrations of chromosome 15q.

21 January 2018

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

21 January 2018

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Autism in Angelman syndrome: a population-based study

21 January 2018

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21 January 2018

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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

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Mutation screening in Rett syndrome patients.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/AJMG.1316

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31 July 2017

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