(Q33595781)

English

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome

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scholarly article

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Europe PubMed Central

PubMed publication ID

28 July 2017

Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome (English)

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Prader–Willi syndrome

1 reference

based on heuristic

inferred from title

author name string

Robinson WP

1

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Wagstaff J

2

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Bernasconi F

3

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Baccichetti C

4

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Artifoni L

5

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Franzoni E

6

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Suslak L

7

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Shih LY

8

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Aviv H

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Schinzel AA

10

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

language of work or name

0 references

publication date

1 September 1993

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

30

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

9

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

756-760

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

Clinical and molecular analysis of five inv dup(15) patients.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

A 15 leads to 1 translocation in a patient mosaic for presence or absence of an isodic(15p)(q11).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

Chromosome 15 abnormalities and the Prader-Willi syndrome: a follow-up report of 40 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

Prader-Willi syndrome and chromosome 15. A clinical discussion of 20 cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

Systematic cloning of human minisatellites from ordered array charomid libraries.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

Uniparental paternal disomy in Angelman's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

Dinucleotide repeat polymorphism at the GABAA receptor alpha 5 (GABRA5) locus at chromosome 15q11-q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

Dinucleotide repeat polymorphism at the GABAA receptor beta 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

Dinucleotide repeat polymorphism at the D15S11 locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1016533

30 October 2018

A case of Prader-Willi syndrome in a girl with a small extra chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prader-Willi syndrome and a bisatellited derivative of chromosome 15

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An extra idic(15p)(q11) chromosome in Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Deletion breakpoints associated with the Prader-Willi and Angelman syndromes (15q11-q13) are not sites of high homologous recombination

1 reference

https://pubmed.ncbi.nlm.nih.gov/8411071

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.30.9.756

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

28 July 2017

ResearchGate publication ID

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