(Q41934004)

14 October 2017

A male with a de novo translocation involving loss of 15q11q13 material and Prader-Willi syndrome (English)

1 reference

14 October 2017

Vickers S

1

1 reference

14 October 2017

Dahlitz M

2

1 reference

14 October 2017

Hardy C

3

1 reference

14 October 2017

Kilpatrick M

4

1 reference

14 October 2017

Webb T

5

1 reference

14 October 2017

language of work or name

English

0 references

publication date

1 June 1994

1 reference

Journal of Medical Genetics

14 October 2017

1 reference

14 October 2017

31

1 reference

14 October 2017

6

1 reference

14 October 2017

478-481

1 reference

FISH ordering of reference markers and of the gene for the alpha 5 subunit of the gamma-aminobutyric acid receptor (GABRA5) within the Angelman and Prader-Willi syndrome chromosomal regions

14 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049927

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049927

Chromosome 15 in floppy infants

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049927

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049927

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049927

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049927

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049927

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1049927

Unique mosaicism in Prader-Labhart-Willi syndrome--a contiguous gene or aneuploidy syndrome?

5 June 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8071975

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8071975

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.31.6.478

1 reference

14 October 2017

1 reference

14 October 2017

PubMed publication ID

8071975

1 reference