(Q37743131)

22 August 2017

1 reference

title

Clinical and genetic aspects of Angelman syndrome (English)

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22 August 2017

Charles A Williams

1

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22 August 2017

Daniel J Driscoll

series ordinal

2

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22 August 2017

Aditi I Dagli

series ordinal

3

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22 August 2017

language of work or name

English

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publication date

1 July 2010

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22 August 2017

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22 August 2017

12

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22 August 2017

7

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22 August 2017

385-395

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181def138

22 August 2017

0 references

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Autism in Angelman syndrome: a population-based study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Clinical, cytogenetic, and molecular diagnosis of Angelman syndrome: estimated prevalence rate in a Danish county.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

‘Puppet’ Children A Report on Three Cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Angelman syndrome: a review of the clinical and genetic aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Angelman syndrome (AS, MIM 105830)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Angelman syndrome 2005: updated consensus for diagnostic criteria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Angelman syndrome: clinical profile

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Diagnosis of Angelman syndrome in infants

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Notched delta, phenotype, and Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Angelman's syndrome: clinical and electroencephalographic findings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Abnormal myelination in Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Abnormal myelination in Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Split-cord malformation in a girl with Angelman syndrome: a mere coincidence?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Reserpine responsive myoclonus and hyperpyrexia in a patient with Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Thelarche variant in a girl with Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Clinical profile of Angelman syndrome at different ages

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Sleep disturbances in Angelman syndrome: a questionnaire study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Communicative functioning in individuals with Angelman syndrome: a comparative study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Sleep polygraphy in Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Sleep in individuals with Angelman syndrome: parent perceptions of patterns and problems

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Parent report of stereotyped behaviors, social interaction, and developmental disturbances in individuals with Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Autism in Angelman syndrome: an exploration of comorbidity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Behaviour problems in Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Clinical research on Angelman syndrome in the United Kingdom: observations on 82 affected individuals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Cognitive and adaptive behavior profiles of children with Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Transmission of Angelman syndrome by an affected mother

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

The Angelman or "happy puppet" syndrome. Clinical and electroencephalographic features and cerebral blood flow.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Paternal UPD15: further genetic and clinical studies in four Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype-phenotype correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Uniparental disomy and imprinting defects in Japanese patients with Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Clinical and mutational spectrum of Mowat-Wilson syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Adenylosuccinate lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Misleading behavioural phenotype with adenylosuccinate lyase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Pitt-Hopkins syndrome in two patients and further definition of the phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Two 22q telomere deletions serendipitously detected by FISH

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

17q21.31 microdeletion syndrome: further expanding the clinical phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Genetics of Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

UBE3A/E6-AP mutations cause Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

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/10.1097%2FGIM.0B013E3181DEF138

Cloning and expression of the cDNA for E6-AP, a protein that mediates the interaction of the human papillomavirus E6 oncoprotein with p53.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Protein ubiquitination involving an E1-E2-E3 enzyme ubiquitin thioester cascade

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

The ubiquitin-proteasome pathway: the complexity and myriad functions of proteins death

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Conformational flexibility underlies ubiquitin ligation mediated by the WWP1 HECT domain E3 ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Multifunction steroid receptor coactivator, E6-associated protein, is involved in development of the prostate gland

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

E3-ubiquitin ligase/E6-AP links multicopy maintenance protein 7 to the ubiquitination pathway by a novel motif, the L2G box

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Identification of HHR23A as a substrate for E6-associated protein-mediated ubiquitination.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

E6AP and calmodulin reciprocally regulate estrogen receptor stability.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Regulation of the Src family tyrosine kinase Blk through E6AP-mediated ubiquitination

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Expression of the Rho-GEF Pbl/ECT2 is regulated by the UBE3A E3 ubiquitin ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Identification of annexin A1 as a novel substrate for E6AP-mediated ubiquitylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

E6AP promotes the degradation of the PML tumor suppressor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

The Drosophila homologue of the Angelman syndrome ubiquitin ligase regulates the formation of terminal dendritic branches

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Ube3a is required for experience-dependent maturation of the neocortex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of alphaCaMKII inhibitory phosphorylation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

The human aminophospholipid-transporting ATPase gene ATP10C maps adjacent to UBE3A and exhibits similar imprinted expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Allele-specific expression analysis by RNA-FISH demonstrates preferential maternal expression of UBE3A and imprint maintenance within 15q11- q13 duplications

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Genomic organization of the UBE3A/E6-AP gene and related pseudogenes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

The human E6-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

A family with a grand-maternally derived interstitial duplication of proximal 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Somatic segregation errors predominantly contribute to the gain or loss of a paternal chromosome leading to uniparental disomy for chromosome 15.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Disruption of the bipartite imprinting center in a family with Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Mutation analysis of UBE3A in Angelman syndrome patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Detection of a deletion of exons 8-16 of the UBE3A gene in familial Angelman syndrome using a semi-quantitative dosage PCR based assay.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Atypical cases of Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Quantitative analysis of SNRPN(correction of SRNPN) gene methylation by pyrosequencing as a diagnostic test for Prader-Willi syndrome and Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Molecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

The spectrum of mutations in UBE3A causing Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Epilepsy in patients with angelman syndrome caused by deletion of the chromosome 15q11-13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Efficacy of different antiepileptic drugs in children with Angelman syndrome associated with 15q11-13 deletion: the Danish experience.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Epilepsy in Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Effects of a low dose of melatonin on sleep in children with Angelman syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Behavioral aspects of Angelman syndrome: a case control study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

An unexpected recurrence of Angelman syndrome suggestive of maternal germ-line mosaicism of del(15)(q11q13) in a Finnish family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

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/10.1097%2FGIM.0B013E3181DEF138

Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Angelman syndrome caused by an identical familial 1,487-kb deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

Familial interstitial 570 kbp deletion of theUBE3Agene region causing Angelman syndrome but not Prader-Willi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181DEF138

10.1097/GIM.0B013E3181DEF138

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

22 August 2017

0 references

1 reference