(Q40549875)

21 September 2017

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title

Uniparental disomy and genomic imprinting as causes of human genetic disease (English)

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21 September 2017

Cassidy SB

1

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21 September 2017

publication date

1 January 1995

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Environmental and Molecular Mutagenesis

21 September 2017

published in

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21 September 2017

volume

25 Suppl 26

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21 September 2017

page(s)

13-20

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Etiology of nondisjunction in humans

21 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

The search for imprinted genes

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Conference report: First International Scientific Workshop on Prader-Willi Syndrome and Other Chromosome 15q Deletion Disorders. May 2-3, 1991, DeLeeuwenhorst, The Netherlands. Abstracts

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Differential activity of maternally and paternally derived chromosome regions in mice

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Chromosome imprinting and the mammalian X chromosome

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

https://api.crossref.org/works/10.1002%2FEM.2850250605

1 reference

7 January 2021

Parental imprinting of the mouse insulin-like growth factor II gene.

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Parental genomic imprinting of the human IGF2 gene

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Functional imprinting and epigenetic modification of the human SNRPN gene

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Human triploidy: relationship between parental origin of the additional haploid complement and development of partial hydatidiform mole

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

The inactive X chromosome in female mammals is distinguished by a lack of histone H4 acetylation, a cytogenetic marker for gene expression

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-13) by YAC cloning and FISH analysis

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Is Angelman syndrome an alternate result of del(15)(q11q13)?

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Degree of methylation of transgenes is dependent on gamete of origin

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Paternal hydrocarbon exposure in Prader-Willi syndrome

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Parental legacy determines methylation and expression of an autosomal transgene: a molecular mechanism for parental imprinting

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Molecular characterization of cytogenetic alterations associated with the Beckwith — Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Uniparental isodisomy 6 associated with deficiency of the fourth component of complement

1 reference

https://api.crossref.org/works/10.1002%2FEM.2850250605

7 January 2021

Identifiers

DOI

10.1002/EM.2850250605

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21 September 2017

1 reference