(Q37060687)

18 August 2017

A putative gene family in 15q11-13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes (English)

1 reference

18 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1608955

14 October 2022

2

V. Greger

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1608955

14 October 2022

author name string

K. Buiting

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1608955

14 October 2022

B. H. Brownstein

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1608955

14 October 2022

R. M. Mohr

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1608955

14 October 2022

I. Voiculescu

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1608955

14 October 2022

A. Winterpacht

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1608955

14 October 2022

B. Zabel

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1608955

14 October 2022

B. Horsthemke

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1608955

14 October 2022

language of work or name

English

0 references

publication date

1 June 1992

1 reference

PMCID

49311

18 August 2017

15 June 1992

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1608955

full work available at URL

14 October 2022

https://europepmc.org/articles/PMC49311

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1608955

https://europepmc.org/articles/PMC49311?pdf=render

14 October 2022

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%3A1608955

https://pnas.org/doi/pdf/10.1073/pnas.89.12.5457

14 October 2022

1 reference

Crossref

DOI

10.1073/PNAS.89.12.5457

https://api.crossref.org/works/10.1073/PNAS.89.12.5457

Proceedings of the National Academy of Sciences of the United States of America

14 October 2022

published in

1 reference

18 August 2017

89

1 reference

18 August 2017

5457-5461

1 reference

18 August 2017

12

1 reference

Separation of chromosomal DNA molecules from yeast by orthogonal-field-alternation gel electrophoresis

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

Alu polymerase chain reaction: a method for rapid isolation of human-specific sequences from complex DNA sources

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

Isolation of single-copy human genes from a library of yeast artificial chromosome clones

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

Prader-Willi syndrome: current understanding of cause and diagnosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

Uniparental paternal disomy in Angelman's syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

DNA-mediated transfer of the adenine phosphoribosyltransferase locus into mammalian cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

Human immunoglobulin D segments encoded in tandem multigenic families.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=49311

In situ hybridization of metaphase and prometaphase chromosomes

4 September 2018

1 reference

12 December 2020

Second Annual Prader-Willi Syndrome Scientific Conference. Houston, June 17, 1987. Proceedings and abstracts

1 reference

12 December 2020

Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences

1 reference

12 December 2020

The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7

1 reference

12 December 2020

Detection of submicroscopic deletions and a DNA polymorphism at the retinoblastoma locus

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.89.12.5457

1 reference

18 August 2017

0 references

1 reference

18 August 2017

1 reference

PMCID

49311