(Q35195911)

7 August 2017

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome. (English)

1 reference

7 August 2017

J H Knoll

1

1 reference

7 August 2017

K A Glatt

2

1 reference

7 August 2017

R D Nicholls

3

1 reference

7 August 2017

S Malcolm

4

1 reference

7 August 2017

M Lalande

5

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 January 1991

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

48

1 reference

7 August 2017

16-21

1 reference

7 August 2017

1

1 reference

A strategy to reveal high-frequency RFLPs along the human X chromosome

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

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=1682763

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

Recurrence risk in the Angelman ("happy puppet") 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=1682763

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

Differential imprinting and expression of maternal and paternal genomes

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

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=1682763

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=1682763

Familial predisposition to Wilms' tumour does not map to the short arm of chromosome 11.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

Genetic imprinting suggested by maternal heterodisomy in nondeletion 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=1682763

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

Genomic imprinting and genetic disorders in man.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

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=1682763

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=1682763

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

The Angelman syndrome in two brothers.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682763

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=1682763

Lack of linkage of familial Wilms' tumour to chromosomal band 11 p13

15 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1985457

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1985457

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1682763

1 reference

7 August 2017

1 reference