(Q34383677)

1 August 2017

title

A neurodevelopmental survey of Angelman syndrome with genotype-phenotype correlations (English)

1 reference

1 August 2017

A Neurodevelopmental Survey of Angelman Syndrome With Genotype-Phenotype Correlations (English)

1 reference

10.1097/DBP.0B013E3181EE408E

Crossref

DOI

https://api.crossref.org/works/10.1097/DBP.0B013E3181EE408E

20 June 2024

1 reference

1 reference

4

Carlos A Bacino

1 reference

1 August 2017

2

Wen-Hann Tan

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

20 June 2024

9

Terry Jo Bichell

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

20 June 2024

13

Lynne M. Bird

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

20 June 2024

author name string

Rene Barbieri-Welge

6

1 reference

1 August 2017

Astrid Bauer-Carlin

7

1 reference

1 August 2017

Hye-Seung Lee

10

1 reference

1 August 2017

Trilochan Sahoo

11

1 reference

1 August 2017

Jennifer K. Gentile

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

20 June 2024

Lucia T. Horowitz

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

20 June 2024

Steven A. Skinner

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

20 June 2024

Arthur L. Beaudet

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

20 June 2024

Susan E. Waisbren

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

20 June 2024

Sarika U. Peters

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

20 June 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20729760

20 June 2024

publication date

1 September 2010

1 reference

full work available at URL

1 August 2017

https://europepmc.org/articles/pmc2997715?pdf=render

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20729760/?tool=EBI

20 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/20729760/pdf/?tool=EBI

20 June 2024

file format

Portable Document Format

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

https://europepmc.org/articles/PMC2997715

20 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

https://europepmc.org/articles/PMC2997715?pdf=render

20 June 2024

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

https://doi.org/10.1097/dbp.0b013e3181ee408e

20 June 2024

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20729760

http://journals.lww.com/00004703-201009000-00012

20 June 2024

1 reference

10.1097/DBP.0B013E3181EE408E

Crossref

DOI

https://api.crossref.org/works/10.1097/DBP.0B013E3181EE408E

Journal of Developmental and Behavioral Pediatrics

20 June 2024

published in

1 reference

1 August 2017

volume

31

1 reference

1 August 2017

issue

7

1 reference

1 August 2017

page(s)

592-601

1 reference

A solution to limitations of cognitive testing in children with intellectual disabilities: the case of fragile X syndrome

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Brief report: the Vineland Adaptive Behavior Scales in young children with autism spectrum disorders at different cognitive levels

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Trajectories and predictors of the development of very young boys with fragile X syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Psychiatric disorders in Prader-Willi syndrome: epidemiology and management

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Angelman syndrome: a review of the clinical and genetic aspects

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Distinct phenotypes distinguish the molecular classes of Angelman syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Levels of cognitive and linguistic development in Angelman syndrome: a study of 20 children

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and angelman syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Profiles and development of adaptive behavior in children with Down syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Behaviour problems in Angelman syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Ratio developmental quotients from the Bayley are comparable to later IQs from the Stanford-Binet.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Validity of the aberrant behavior checklist in a clinical sample of toddlers.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Follow-up of children diagnosed with pervasive developmental disorders: stability and change during the preschool years.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Cognitive and adaptive behavior profiles of children with Angelman syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Value and limitations of preschool cognitive tests, with an emphasis on longitudinal study of children on the autistic spectrum

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Communication profiles of individuals with Down's syndrome, Angelman syndrome and pervasive developmental disorder.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Problem behaviors associated with 15q- Angelman syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Angelman syndrome: are the estimates too low?

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

Predicting developmental outcome at school age from infant tests of normal, at-risk and retarded infants.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997715

On the prevalence of Angelman syndrome

27 October 2018

1 reference

12 December 2020

Distinctive pattern of behavioral functioning in Angelman syndrome

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

10.1097/DBP.0B013E3181EE408E

Identifiers

DOI

1 reference

1 August 2017

1 reference

1 August 2017

1 reference