(Q55044754)

16 June 2018

title

A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13. (English)

1 reference

16 June 2018

main subject

Prader–Willi syndrome

1 reference

M G Butler

1

1 reference

16 June 2018

S L Christian

series ordinal

2

1 reference

16 June 2018

T Kubota

series ordinal

3

1 reference

16 June 2018

D H Ledbetter

series ordinal

4

1 reference

16 June 2018

publication date

1 October 1996

1 reference

16 June 2018

American Journal of Medical Genetics Part A

published in

1 reference

16 June 2018

volume

65

1 reference

16 June 2018

page(s)

137-141

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16 June 2018

issue

2

1 reference

16 June 2018

Molecular analysis of transforming growth factor beta in giant cell tumor of bone

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Multiplex PCR of three dinucleotide repeats in the Prader-Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Prader-Willi syndrome: consensus diagnostic criteria.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Report and abstracts of the Second International Workshop on Human Chromosome 15 Mapping. England, February 18-20, 1994.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Prader-Willi syndrome: current understanding of cause and diagnosis

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

An infant with deletion of the distal long arm of chromosome 15 (q26.1----qter) and loss of insulin-like growth factor 1 receptor gene.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

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

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

16 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5972537

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

16 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819961016%2965%3A2%3C137%3A%3AAID-AJMG11%3E3.0.CO%3B2-R

Clinical correlates of chromosome 15 deletions and maternal disomy in Prader-Willi syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8911606

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Tissue-specific expression of the prostatic secretory protein PSP94 in cynomolgus monkey (Macaca fascicularis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8911606

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/(SICI)1096-8628(19961016)65:2<137::AID-AJMG11>3.0.CO;2-R

1 reference

16 June 2018

release_zbug3jefgzc53edozeur6il7s4

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zbug3jefgzc53edozeur6il7s4

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMCID

5972537

1 reference

16 June 2018

PubMed ID

8911606

1 reference

16 June 2018