(Q33675694)

28 July 2017

title

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome (English)

1 reference

28 July 2017

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Prader–Willi syndrome

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Gillessen-Kaesbach G

1

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28 July 2017

Gross S

2

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28 July 2017

Kaya-Westerloh S

3

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28 July 2017

Passarge E

4

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28 July 2017

Horsthemke B

5

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28 July 2017

language of work or name

English

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publication date

1 February 1995

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

2

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28 July 2017

page(s)

88-92

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Prader-Willi syndrome: consensus diagnostic criteria.

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=1050225

Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi 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=1050225

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=1050225

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-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=1050225

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=1050225

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050225

Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050225

Molecular diagnosis of Prader-Willi syndrome: parent-of-origin dependent methylation sites and non-isotopic detection of (CA)n dinucleotide repeat polymorphisms

30 October 2018

1 reference

12 December 2020

Detection of aberrant DNA methylation in unique Prader-Willi syndrome patients and its diagnostic implications

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

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.2.88

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28 July 2017

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28 July 2017

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