(Q72209589)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8094063%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

title

Molecular study of chromosome 15 in 22 patients with Angelman syndrome (English)

1 reference

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24 October 2019

1 reference

J Beuten

1

1 reference

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24 October 2019

K Mangelschots

2

1 reference

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24 October 2019

I Buntinx

3

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24 October 2019

P Coucke

4

1 reference

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24 October 2019

O F Brouwer

5

1 reference

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24 October 2019

R C Hennekam

6

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24 October 2019

C Van Broeckhoven

7

1 reference

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24 October 2019

P J Willems

8

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24 October 2019

publication date

1 January 1993

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24 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8094063%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

volume

90

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24 October 2019

page(s)

489-495

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24 October 2019

issue

5

1 reference

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https://scigraph.springernature.com/pub.10.1007/bf00217446

24 October 2019

exact match

0 references

cites work

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

1 reference

12 December 2020

Molecular and clinical overlap of Angelman and Prader-Willi syndrome phenotypes

1 reference

12 December 2020

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome

1 reference

12 December 2020

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

1 reference

12 December 2020

The characterization of high-resolution G-banded chromosomes of man

1 reference

12 December 2020

The Angelman syndrome in two brothers.

1 reference

12 December 2020

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

1 reference

12 December 2020

Long-range restriction mapping and linkage analysis of the Prader-Willi chromosome region (PWCR)

1 reference

12 December 2020

Genomic imprinting in an Angelman and Prader-Willi translocation family

1 reference

12 December 2020

Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients

1 reference

12 December 2020

Recurrence risk in the Angelman ("happy puppet") syndrome

1 reference

12 December 2020

Replication asynchrony between homologs 15q11.2: cytogenetic evidence for genomic imprinting

1 reference

12 December 2020

Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR)

1 reference

12 December 2020

Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome

1 reference

12 December 2020

Angelman (happy puppet) syndrome in a girl and her brother

1 reference

12 December 2020

The Angelman (Happy Puppet) syndrome: is it autosomal recessive?

1 reference

12 December 2020

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

1 reference

12 December 2020

The association of Angelman's syndrome with deletions within 15q11-13

1 reference

12 December 2020

Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24].

1 reference

12 December 2020

The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7

1 reference

12 December 2020

StyI polymorphism at the D15S11 locus

1 reference

12 December 2020

DNA deletion and its parental origin in Angelman syndrome patients

1 reference

12 December 2020

Prader-Willi syndrome: current understanding of cause and diagnosis

1 reference

12 December 2020

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

1 reference

12 December 2020

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

1 reference

12 December 2020

Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons

1 reference

12 December 2020

Cytogenetic and molecular study of Angelman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical and cytogenetic studies of the Prader-Willi syndrome: evidence of phenotype-karyotype correlation

1 reference

12 December 2020

On the parental origin of the deletion in Angelman syndrome

1 reference

12 December 2020

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review

1 reference

12 December 2020

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome

1 reference

12 December 2020

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

1 reference

12 December 2020

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome.

1 reference

12 December 2020

Angelman's syndrome and 15q11-q13 deletion.

1 reference

12 December 2020

GABAergic mechanisms in the pathogenesis and treatment of epilepsy

1 reference

12 December 2020

The "happy puppet" syndrome in two siblings.

1 reference

12 December 2020

Systematic cloning of human minisatellites from ordered array charomid libraries.

1 reference

12 December 2020

Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15

1 reference

12 December 2020

Detection of a 15q deletion in a child with Angelman syndrome by cytogenetic analysis and flow cytometry

1 reference

12 December 2020

How do seizures begin? Clues from hippocampal slices

1 reference

12 December 2020

The 'happy puppet' syndrome of Angelman: review of the clinical features

1 reference

12 December 2020

Proximal 15q variant as possible pitfall in the cytogenetic diagnosis of Prader-Willi syndrome

1 reference

12 December 2020

Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients

1 reference

12 December 2020

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

1 reference

12 December 2020

Proximal 15q variant with normal phenotype in three unrelated individuals

1 reference

12 December 2020

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

1 reference

12 December 2020

Molecular cytogenetics of Prader-Willi and Angelman syndromes

1 reference

12 December 2020

Uniparental paternal disomy in Angelman's syndrome

1 reference

12 December 2020

Genomic imprinting: review and relevance to human diseases.

1 reference

12 December 2020

Prometaphase banding of human chromosomes with basic fuchsin.

1 reference

12 December 2020

Molecular and cytogenetic studies of the Prader-Willi syndrome

1 reference

12 December 2020

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15

1 reference

12 December 2020

Detection of molecular rearrangements in Prader-Willi syndrome patients by using genomic probes recognizing four loci within the PWCR

1 reference

12 December 2020

Deletions of chromosome 15 as a cause of the Prader-Willi syndrome

1 reference

12 December 2020

Sequence and functional expression of the GABA A receptor shows a ligand-gated receptor super-family.

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00217446

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8094063%20AND%20SRC:MED&resulttype=core&format=json

24 October 2019

1 reference