(Q36930094)

English

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

scientific article published on 23 September 2005

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

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

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Angelman syndrome

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

author name string

T Sahoo

1

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

S U Peters

2

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

N S Madduri

3

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

D G Glaze

4

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

J R German

5

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

L M Bird

6

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

R Barbieri-Welge

7

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

T J Bichell

8

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

A L Beaudet

9

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

C A Bacino

10

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

language of work or name

0 references

publication date

23 September 2005

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

43

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

512-516

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Identification of Four Highly Conserved Genes between Breakpoint Hotspots BP1 and BP2 of the Prader-Willi/Angelman Syndromes Deletion Region That Have Undergone Evolutionary Transposition Mediated by Flanking Duplicons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Angelman syndrome: a review of the clinical and genetic aspects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Uniparental disomy (UPD). Genomic imprinting and a case for new genetics (prenatal and clinical implications: the "Likon" concept).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

UBE3A/E6-AP mutations cause Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Autism in Angelman syndrome: a population-based study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Is Angelman syndrome an alternate result of del(15)(q11q13)?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

Similar molecular deletions on chromosome 15q11.2 are encountered in both the Prader-Willi and Angelman syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

29 September 2017

BAC microarray analysis of 15q11-q13 rearrangements and the impact of segmental duplications

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

27 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

27 June 2018

Angelman's ("Happy Puppet") Syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

27 June 2018

Diagnosis of Angelman syndrome in infants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

27 June 2018

Autism in Angelman syndrome: implications for autism research.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 September 2018

Cognitive and adaptive behavior profiles of children with Angelman syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 September 2018

Development of a comparative genomic hybridization microarray and demonstration of its utility with 25 well-characterized 1p36 deletions.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 September 2018

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 September 2018

Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 September 2018

Genetic studies in autistic disorder and chromosome 15.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 September 2018

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 September 2018

Autism and maternally derived aberrations of chromosome 15q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 December 2018

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2564536

4 December 2018

Genotype and phenotype in Angelman syndrome caused by paternal UPD 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/16183798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays

1 reference

https://pubmed.ncbi.nlm.nih.gov/16183798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/16183798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

On the parental origin of the deletion in Angelman syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16183798

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.036913

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

17 August 2017

ResearchGate publication ID

0 references

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