Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis (Q33678691)

28 July 2017

title

Prader-Willi syndrome in a child with mosaic trisomy 15 and mosaic triplo-X: a molecular analysis (English)

1 reference

28 July 2017

main subject

Prader–Willi syndrome

1 reference

1 reference

Devriendt K

1

1 reference

28 July 2017

Matthijs G

2

1 reference

28 July 2017

Claes S

3

1 reference

28 July 2017

Legius E

4

1 reference

28 July 2017

Proesmans W

5

1 reference

28 July 2017

Cassiman JJ

6

1 reference

28 July 2017

Fryns JP

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 April 1997

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

34

1 reference

28 July 2017

issue

4

1 reference

28 July 2017

page(s)

318-322

1 reference

Trisomy 15 mosaicism and uniparental disomy (UPD) in a liveborn infant

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050920

Prenatal diagnosis of uniparental disomy 15 following trisomy 15 mosaicism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050920

Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050920

Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050920

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=1050920

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=1050920

Uniparental disomy revisited: the first twelve years

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050920

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=1050920

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050920

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050920

A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050920

Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal 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=1050920

A case of paternal uniparental disomy for chromosome 11.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050920

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050920

A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes

30 October 2018

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

Trisomy 15 in chorionic villi and Prader-Willi syndrome at birth

1 reference

12 December 2020

A specific phenotype associated with trisomy 15 mosaicism

1 reference

12 December 2020

Increased parental ages and uniparental disomy 15: a paternal age effect?

1 reference

12 December 2020

The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination

1 reference

12 December 2020

Human maternal uniparental disomy for chromosome 16 and fetal development

1 reference

12 December 2020

Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture

1 reference

12 December 2020

Clonal analysis using recombinant DNA probes from the X-chromosome

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.34.4.318

1 reference

28 July 2017

1 reference

28 July 2017

1 reference