(Q34680586)

PubMed publication ID

2812027

3 August 2017

title

Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

12 May 2020

author name string

R D Nicholls

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

12 May 2020

J H Knoll

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

12 May 2020

M G Butler

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

12 May 2020

S Karam

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

12 May 2020

M Lalande

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

12 May 2020

language of work or name

English

0 references

publication date

1 November 1989

1 reference

PubMed publication ID

3 August 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

12 May 2020

volume

342

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

12 May 2020

issue

6247

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

12 May 2020

page(s)

281-285

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

High Resolution of Human Chromosomes

12 May 2020

cites work

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

A different kind of inheritance

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Isodisomy of chromosome 7 in a patient with cystic fibrosis: could uniparental disomy be common in humans?

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Uniparental disomy as a mechanism for human genetic disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

The association of Angelman's syndrome with deletions within 15q11-13

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Genomic imprinting and embryonal tumours

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

https://pubmed.ncbi.nlm.nih.gov/2812027

1 reference

12 December 2020

Differential imprinting and expression of maternal and paternal genomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Transgenes as molecular probes for genomic imprinting.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

DNA methylation and gene activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Pulsed-field electrophoresis: application of a computer model to the separation of large DNA molecules

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Long range genome structure around the human alpha-globin complex analysed by PFGE.

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

An anthropometric study of 38 individuals with Prader-Labhart-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

A rapid banding technique for human chromosomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Androgenetic origin of hydatidiform mole

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Isolation of human chromosome 13-specific DNA sequences cloned from flow sorted chromosomes and potentially linked to the retinoblastoma locus

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Prader-Willi syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

Separation of yeast chromosome-sized DNAs by pulsed field gradient gel electrophoresis

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/2812027

12 December 2020

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

1 reference

Crossref

https://api.crossref.org/works/10.1038%2F342281A0

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/342281A0

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

Dimensions Publication ID

12 May 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6706849&resulttype=core&format=json

12 May 2020

PubMed publication ID

2812027

1 reference