Angelman syndrome: Mutations influence features in early childhood (Q63644832)

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Sanjeev V Kothare

object named as

Sanjeev V Kothare

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author name string

Wen-Hann Tan

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Carlos A Bacino

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Steven A Skinner

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Irina Anselm

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Rene Barbieri-Welge

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Astrid Bauer-Carlin

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Arthur L Beaudet

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Jennifer K Gentile

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Daniel G Glaze

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Lucia T Horowitz

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Hye-Seung Lee

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Mark P Nespeca

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Sarika U Peters

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Trilochan Sahoo

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Dean Sarco

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Susan E Waisbren

American Journal of Medical Genetics

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language of work or name

English

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publication date

January 2011

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published in

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volume

155A

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page(s)

81-90

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issue

1

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cites work

Behavioral phenotypes in genetic syndromes: genetic clues to human behavior

1 reference

12 December 2020

Angelman syndrome: mimicking conditions and phenotypes

1 reference

12 December 2020

Angelman syndrome: clinical findings and follow-up data of 14 patients.

1 reference

12 December 2020

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Behavior and neuropsychiatric manifestations in Angelman syndrome.

1 reference

12 December 2020

Angelman syndrome: are the estimates too low?

1 reference

12 December 2020

Molecular and clinical study of 61 Angelman syndrome patients

1 reference

12 December 2020

Angelman syndrome 2005: updated consensus for diagnostic criteria.

1 reference

12 December 2020

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

1 reference

12 December 2020

Genomic imprinting and the expression of affect in Angelman syndrome: what's in the smile?

1 reference

12 December 2020

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

1 reference

12 December 2020

Evolution of epilepsy and EEG findings in Angelman syndrome

1 reference

12 December 2020

British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood.

1 reference

12 December 2020

Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements

1 reference

12 December 2020

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

1 reference

12 December 2020

Microarray based comparative genomic hybridization testing in deletion bearing patients with Angelman syndrome: genotype-phenotype correlations

1 reference

12 December 2020

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical profile of Angelman syndrome at different ages

1 reference

12 December 2020

Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers

1 reference

12 December 2020

Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions

1 reference

12 December 2020

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

1 reference

12 December 2020

Angelman syndrome: is there a characteristic EEG?

1 reference

12 December 2020

Problem behaviors associated with 15q- Angelman syndrome.

1 reference

12 December 2020

Study of behavioral phenotypes: goals and methodological considerations.

1 reference

12 December 2020

On the prevalence of Angelman syndrome

1 reference

12 December 2020

Behavioral aspects of Angelman syndrome: a case control study.

1 reference

12 December 2020

Angelman syndrome: a review of the clinical and genetic aspects

1 reference

12 December 2020

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

1 reference

12 December 2020

Preference for water-related items in Angelman syndrome, Down syndrome and non-specific intellectual disability.

1 reference

12 December 2020

General measures of cognition for the preschool child

1 reference

12 December 2020

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

1 reference

12 December 2020

Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster

1 reference

12 December 2020

Angelman syndrome in adulthood

1 reference

12 December 2020

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

1 reference

12 December 2020

Angelman syndrome: evolution of the phenotype in adolescents and adults.

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Measuring behavioral phenotypes: provocations from the "new genetics".

1 reference

12 December 2020

Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.

1 reference

12 December 2020

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

1 reference

12 December 2020

A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations

1 reference

12 December 2020