Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. (Q54690946)

2 June 2018

title

Mosaic imprinting defect in a patient with an almost typical expression of the Prader-Willi syndrome. (English)

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2 June 2018

author

Mariluce Riegel

3

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author name string

Eva Wey

1

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Deborah Bartholdi

2

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Hülya Nazlican

4

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2 June 2018

Bernhard Horsthemke

5

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Albert Schinzel

6

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Alessandra Baumer

7

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publication date

1 March 2005

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European Journal of Human Genetics

published in

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volume

13

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issue

3

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page(s)

273-277

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Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader-Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes

cites work

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201337

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect

21 January 2018

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A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms.

21 January 2018

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A novel real-time PCR assay for quantitative analysis of methylated alleles (QAMA): analysis of the retinoblastoma locus

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201337

Somatic mosaicism in patients with Angelman syndrome and an imprinting defect

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201337

Comparison of phenotype in uniparental disomy and deletion Prader-Willi syndrome: sex specific differences

21 January 2018

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A study of the influence of different genotypes on the physical and behavioral phenotypes of children and adults ascertained clinically as having PWS.

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201337

Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201337

A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect

21 January 2018

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201337

Epigenetic reprogramming in mammalian development

21 January 2018

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Analysis of the methylation status of imprinted genes based on methylation-specific polymerase chain reaction combined with denaturing high-performance liquid chromatography

21 January 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Comparison of phenotype between patients with Prader-Willi syndrome due to deletion 15q and uniparental disomy 15

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201337

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/SJ.EJHG.5201337

1 reference

2 June 2018

1 reference

2 June 2018