(Q33677898)

28 July 2017

Familial translocations involving 15q11-q13 can give rise to interstitial deletions causing Prader-Willi or Angelman syndrome (English)

1 reference

28 July 2017

Horsthemke B

1

1 reference

28 July 2017

Maat-Kievit A

2

1 reference

28 July 2017

Sleegers E

3

1 reference

28 July 2017

van den Ouweland A

4

1 reference

28 July 2017

Buiting K

5

1 reference

28 July 2017

Lich C

6

1 reference

28 July 2017

Mollevanger P

7

1 reference

28 July 2017

Beverstock G

8

1 reference

28 July 2017

Gillessen-Kaesbach G

9

1 reference

28 July 2017

Schwanitz G

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 October 1996

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

33

1 reference

28 July 2017

848-851

1 reference

28 July 2017

10

1 reference

Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

Prader-Willi syndrome: consensus diagnostic criteria.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

Genomic imprinting and candidate genes in the Prader-Willi and Angelman syndromes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

The 1993-94 Généthon human genetic linkage map

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

StyI polymorphism at the D15S11 locus

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050765

Genomic imprinting in an Angelman and Prader-Willi translocation family

21 June 2018

1 reference

12 December 2020

Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15

1 reference

12 December 2020

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

1 reference

12 December 2020

A linkage map of human chromosome 15 with an average resolution of 2 cM and containing 55 polymorphic microsatellites

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.10.848

1 reference

28 July 2017

1 reference

28 July 2017

1 reference