(Q50993484)

26 March 2018

title

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

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26 March 2018

main subject

Prader–Willi syndrome

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1

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Deborah E McFadden

11

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26 March 2018

author name string

Schinzel A

2

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26 March 2018

Langlois S

3

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26 March 2018

Gillessen-Kaesbach G

4

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26 March 2018

Schuffenhauer S

5

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26 March 2018

Michaelis R

6

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26 March 2018

Abeliovich D

7

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26 March 2018

Lerer I

8

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26 March 2018

Christian S

9

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26 March 2018

Guitart M

10

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26 March 2018

Robinson WP

12

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26 March 2018

publication date

1 October 1996

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26 March 2018

American Journal of Medical Genetics Part A

published in

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26 March 2018

volume

65

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26 March 2018

issue

2

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26 March 2018

page(s)

133-136

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26 March 2018

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

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1 reference

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

21 January 2018

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

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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Genomic imprinting related to prenatal diagnosis

21 January 2018

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

21 January 2018

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Uniparental paternal disomy in Angelman's syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences

21 January 2018

1 reference

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Genomic imprinting, monozygous twinning, and X inactivation

21 January 2018

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Non-random X chromosome inactivation in an affected twin in a monozygotic twin pair discordant for Wiedemann-Beckwith syndrome

21 January 2018

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Monozygotic twinning and Wiedemann-Beckwith syndrome

21 January 2018

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

21 January 2018

1 reference

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Sex ratio in spontaneous abortions

21 January 2018

1 reference

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

21 January 2018

1 reference

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Nondisjunction of human acrocentric chromosomes: studies of 432 trisomic fetuses and liveborns

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19961016)65:2<133::AID-AJMG10>3.0.CO;2-R

21 January 2018

Identifiers

DOI

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26 March 2018

1 reference

26 March 2018