(Q50345135)

English

Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology.

scientific article published in April 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

Case report: Angelman syndrome in an individual with a small SMC(15) and paternal uniparental disomy: a case report with reference to the assessment of cognitive functioning and autistic symptomatology. (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

0 references

Angelman syndrome

1 reference

based on heuristic

inferred from title

author name string

Russell John Thompson

1

1 reference

Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

Patrick F Bolton

2

1 reference

Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

language of work or name

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publication date

1 April 2003

1 reference

Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

Journal of Autism and Developmental Disorders

1 reference

Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

33

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Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

2

1 reference

Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

171-176

1 reference

Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

https://scigraph.springernature.com/pub.10.1023/a:1022991410822

0 references

Inherited interstitial duplications of proximal 15q: genotype-phenotype correlations

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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inferred from PubMed ID database lookup

Autism in Angelman syndrome: a population-based study

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https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Behaviour problems in Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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The inv dup(15) syndrome: a clinically recognizable syndrome with altered behavior, mental retardation, and epilepsy.

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https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Angelman syndrome: clinical profile

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https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Angelman syndrome

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https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Communication development in Angelman's syndrome

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https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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

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https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Molecular and clinical study of 61 Angelman syndrome patients

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https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Angelman and Prader-Willi syndrome: a magnetic resonance imaging study of differences in cerebral structure.

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https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Behavioral correlates in the happy puppet syndrome: a characteristic profile?

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https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Towards a molecular understanding of Prader-Willi and Angelman syndromes

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https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Autism diagnostic observation schedule: a standardized observation of communicative and social behavior

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Communication, cognition, and social interaction in the Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autism and maternally derived aberrations of chromosome 15q.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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inferred from PubMed ID database lookup

Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Psychiatric disorders in mildly and severely mentally retarded urban children and adolescents: epidemiological aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autism or atypical autism in maternally but not paternally derived proximal 15q duplication

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics of Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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inferred from PubMed ID database lookup

Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular mechanisms in Angelman syndrome: a survey of 93 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Angelman syndrome: how many genes to remain silent?

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage-disequilibrium mapping of autistic disorder, with 15q11-13 markers

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case-control family history study of autism

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Three probands with autistic disorder and isodicentric chromosome 15.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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Phenotype-genotype correlation in 20 deletion and 20 non-deletion Angelman syndrome patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

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inferred from PubMed ID database lookup

Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype and phenotype in Angelman syndrome caused by paternal UPD 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

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Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autism, profound mental retardation and atypical bipolar disorder in a 33-year-old female with a deletion of 15q12.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A case of autism associated with partial tetrasomy 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/12757356

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1023/A:1022991410822

1 reference

Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 March 2018

http://europepmc.org/abstract/MED/12757356

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