(Q35195992)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357962%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

title

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357962%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

author name string

S. B. Cassidy

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357962

17 September 2022

L. W. Lai

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357962

17 September 2022

R. P. Erickson

3

1 reference

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17 September 2022

L. Magnuson

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357962

17 September 2022

E. Thomas

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357962

17 September 2022

R. Gendron

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357962

17 September 2022

J. Herrmann

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357962

17 September 2022

language of work or name

English

0 references

publication date

1 October 1992

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357962%20AND%20SRC:MED&resulttype=core&format=json

full work available at URL

18 September 2019

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1357962/pdf/?tool=EBI

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%3A1357962

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1357962/?tool=EBI

17 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357962

https://europepmc.org/articles/PMC1682792

17 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1357962

https://europepmc.org/articles/PMC1682792?pdf=render

17 September 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%3A1357962

American Journal of Human Genetics

17 September 2022

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357962%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

volume

51

1 reference

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18 September 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357962%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

page(s)

701-708

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357962%20AND%20SRC:MED&resulttype=core&format=json

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

18 September 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

The relationship of maternal age and trisomy among trisomic spontaneous abortions

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

HLA-DR typing "at the DNA level": RFLPs and subtypes detected with a DR beta cDNA probe

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Uniparental disomy as a mechanism for human genetic disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Isolation and mapping of a polymorphic DNA sequence pYNH24 on chromosome 2 (D2S44).

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Prader-Willi syndrome: current understanding of cause and diagnosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Genomic imprinting: review and relevance to human diseases.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Systematic cloning of human minisatellites from ordered array charomid libraries.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Dinucleotide repeat polymorphism at the D1S104 locus

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Uniparental paternal disomy in Angelman's syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

The COL6A1 and COL6A2 genes exist as a gene cluster and detect highly informative DNA polymorphisms in the telomeric region of human chromosome 21q.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Uniparental disomy 15 resulting from "correction" of an initial trisomy 15.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682792

Prader-Willi syndrome. Variable severity and recurrence risk

15 November 2018

1 reference

12 December 2020

Genomic imprinting in an Angelman and Prader-Willi translocation family

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

Familial Prader-Willi syndrome with apparently normal chromosomes

1 reference

12 December 2020

Recurrence risk in Prader-Willi syndrome

1 reference

12 December 2020

Efficient direct chromosome analyses and enzyme determinations from chorionic villi samples in the first trimester of pregnancy

1 reference

12 December 2020

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1357962%20AND%20SRC:MED&resulttype=core&format=json

18 September 2019

1 reference