(Q51049495)

27 March 2018

title

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

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27 March 2018

genotype-phenotype correlation

main subject

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G Gillessen-Kaesbach

1

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27 March 2018

W Robinson

2

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27 March 2018

D Lohmann

3

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27 March 2018

S Kaya-Westerloh

4

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27 March 2018

E Passarge

5

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27 March 2018

B Horsthemke

6

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27 March 2018

publication date

1 December 1995

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27 March 2018

published in

Human Genetics

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27 March 2018

volume

96

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27 March 2018

page(s)

638-643

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27 March 2018

issue

6

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27 March 2018

https://scigraph.springernature.com/pub.10.1007/bf00210291

exact match

0 references

cites work

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

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

1 reference

12 December 2020

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

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12 December 2020

Prader-Willi syndrome: consensus diagnostic criteria.

1 reference

12 December 2020

Hypopigmentation in the Prader-Willi syndrome

1 reference

12 December 2020

Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15.

1 reference

12 December 2020

Maternal age-specific rates of numerical chromosome abnormalities with special reference to trisomy

1 reference

12 December 2020

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

1 reference

12 December 2020

Further patient with Angelman syndrome due to paternal disomy of chromosome 15 and a milder phenotype

1 reference

12 December 2020

Weight, length, and head circumference curves for boys and girls of between 20 and 42 weeks' gestation

1 reference

12 December 2020

A new genetic concept: uniparental disomy and its potential effect, isodisomy

1 reference

12 December 2020

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

1 reference

12 December 2020

Clinical comparison of 59 Prader-Willi patients with and without the 15(q12) deletion

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A molecular and cytogenetic study in Finnish Prader-Willi patients.

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

Domain organization of allele-specific replication within the GABRB3 gene cluster requires a biparental 15q11-13 contribution

1 reference

12 December 2020

DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63)

1 reference

12 December 2020

A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism

1 reference

12 December 2020

Clinical and cytogenetic survey of 39 individuals with Prader-Labhart-Willi syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00210291

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27 March 2018

PubMed ID

8522319

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27 March 2018