(Q52043084)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1584261%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

title

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

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21 September 2019

3

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21 September 2019

John A.L. Armour

6

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21 September 2019

author name string

Mascari MJ

1

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21 September 2019

Gottlieb W

2

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21 September 2019

Butler MG

4

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21 September 2019

Waller DA

5

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21 September 2019

Jeffreys AJ

7

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21 September 2019

Ladda RL

8

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21 September 2019

Nicholls RD

9

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21 September 2019

language of work or name

English

0 references

publication date

1 June 1992

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21 September 2019

number of pages

9

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The New England Journal of Medicine

inferred from page(s)

published in

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21 September 2019

volume

326

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21 September 2019

issue

24

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21 September 2019

page(s)

1599-1607

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

21 September 2019

cites work

1 reference

12 December 2020

The Prader-Willi syndrome with a 15/15 translocation. Case report and review of the literature

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

A strategy to reveal high-frequency RFLPs along the human X chromosome

1 reference

12 December 2020

Parental origin of the extra chromosome in trisomy 18.

1 reference

12 December 2020

Neonatal diagnosis of Prader-Willi syndrome and its implications

1 reference

12 December 2020

StyI polymorphism at the D15S11 locus

1 reference

12 December 2020

Differential imprinting and expression of maternal and paternal genomes

1 reference

12 December 2020

Uniparental paternal disomy in Angelman's syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Uniparental disomy as a mechanism for human genetic disease

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

Genomic imprinting: review and relevance to human diseases.

1 reference

12 December 2020

A rapid banding technique for human chromosomes

1 reference

12 December 2020

Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. Down Syndrome Collaborative Group

1 reference

12 December 2020

Highly polymorphic locus D15S24 (CMW-1) maps to 15pter-q13. [HGM9 provisional no. D15S24].

1 reference

12 December 2020

Genomic imprinting and its clinical implications

1 reference

12 December 2020

Regional assignments of three polymorphic DNA segments on human chromosome 15

1 reference

12 December 2020

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

1 reference

12 December 2020

Systematic cloning of human minisatellites from ordered array charomid libraries.

1 reference

12 December 2020

Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndromes: a review

1 reference

12 December 2020

Quantitative calibration and use of DNA probes for investigating chromosome abnormalities in the Prader-Willi syndrome

1 reference

12 December 2020

Prader-Willi syndrome

1 reference

12 December 2020

Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus

1 reference

12 December 2020

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

1 reference

12 December 2020

The parental origin of the extra X chromosome in 47,XXX females.

1 reference

12 December 2020

Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting.

1 reference

12 December 2020

1 reference

12 December 2020

Parental imprinting of genes

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Parental origin of chromosome 15 deletion in Prader-Willi syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Diagnosis of Angelman syndrome in infants

1 reference

12 December 2020

Prader-Willi syndrome: current understanding of cause and diagnosis

1 reference

12 December 2020

Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome

1 reference

12 December 2020

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction

1 reference

12 December 2020

1 reference

12 December 2020

Incidence of 15q deletions in the Angelman syndrome: a survey of twelve affected persons

1 reference

12 December 2020

Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

1 reference

12 December 2020

Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome

1 reference

12 December 2020

Chromosome 15 uniparental disomy is not frequent in Angelman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Physical features of Prader-Willi syndrome in neonates

1 reference

12 December 2020

Hypopigmentation: a common feature of Prader-Labhart-Willi syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes

1 reference

12 December 2020

Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers

1 reference

12 December 2020

Cytogenetic and molecular analysis in Angelman syndrome

1 reference

12 December 2020

Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene

1 reference

12 December 2020

Second Annual Prader-Willi Syndrome Scientific Conference. Houston, June 17, 1987. Proceedings and abstracts

1 reference

12 December 2020

High-resolution bands in human fibroblast chromosomes induced by actinomycin D

1 reference

12 December 2020

10.1056/NEJM199206113262404

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:1584261%20AND%20SRC:MED&resulttype=core&format=json

21 September 2019

PMC publication ID

7556354

0 references

1 reference