Cytogenetic and age-dependent risk factors associated with uniparental disomy 15 (Q71753821)

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21 October 2019

title

Cytogenetic and age-dependent risk factors associated with uniparental disomy 15 (English)

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21 October 2019

Robinson WP

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21 October 2019

Langlois S

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21 October 2019

Schuffenhauer S

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21 October 2019

Horsthemke B

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21 October 2019

Michaelis RC

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21 October 2019

Christian S

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21 October 2019

Ledbetter DH

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21 October 2019

Schinzel A

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21 October 2019

publication date

1 September 1996

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21 October 2019

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21 October 2019

volume

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21 October 2019

issue

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21 October 2019

page(s)

837-844

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

21 October 2019

cites work

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Molecular diagnosis of Prader-Willi syndrome: comparison of cytogenetic and molecular genetic data including parent of origin dependent methylation DNA patterns.

21 January 2018

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21 January 2018

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Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13

21 January 2018

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

21 January 2018

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Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses

21 January 2018

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Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman 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

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Non-disjunction in human sperm: evidence for an effect of increasing paternal age.

21 January 2018

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Molecular study of the Prader-Willi syndrome: Deletion, RFLP, and phenotype analyses of 50 patients

21 January 2018

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21 January 2018

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Current topic: confined placental mosaicism and intrauterine fetal development

21 January 2018

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Chromosomal mosaicism confined to the placenta in human conceptions

21 January 2018

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Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis

21 January 2018

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

21 January 2018

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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

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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

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

21 January 2018

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Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome

21 January 2018

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Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome

21 January 2018

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Molecular and clinical study of 61 Angelman syndrome patients

21 January 2018

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21 January 2018

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Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15

21 January 2018

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Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome

21 January 2018

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Familial unbalanced translocation t(8;15)(p23.3;q11) with uniparental disomy in Angelman syndrome

21 January 2018

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Supernumerary inv dup(15) in a patient with Angelman syndrome and a deletion of 15q11–q13

21 January 2018

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The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations

21 January 2018

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Inv dup(15) supernumerary marker chromosomes

21 January 2018

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A clinical, cytogenetic, and molecular study of 40 adults with the Prader-Willi syndrome

21 January 2018

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10.1002/(SICI)1097-0223(199609)16:9<837::AID-PD956>3.0.CO;2-7

21 January 2018

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