(Q73494617)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

main subject

Prader–Willi syndrome

1 reference

T Bailin

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

R D Nicholls

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

S K Park

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M J Mascari

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M G Butler

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

publication date

1 July 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics Part A

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

71

1 reference

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4 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

57-62

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12

4 November 2019

cites work

1 reference

12 December 2020

Molecular analysis of transforming growth factor beta in giant cell tumor of bone

1 reference

12 December 2020

A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.

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

Organization and sequence of the human P gene and identification of a new family of transport proteins

1 reference

12 December 2020

Prader-Willi syndrome: consensus diagnostic criteria.

1 reference

12 December 2020

Hypopigmentation in the Prader-Willi syndrome

1 reference

12 December 2020

Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus

1 reference

12 December 2020

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype

1 reference

12 December 2020

A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity

1 reference

12 December 2020

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism

1 reference

12 December 2020

Prader-Willi syndrome: current understanding of cause and diagnosis

1 reference

12 December 2020

Diagnosis of Angelman syndrome in infants

1 reference

12 December 2020

An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids

1 reference

12 December 2020

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

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

Homologous association of oppositely imprinted chromosomal domains

1 reference

12 December 2020

Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

1 reference

12 December 2020

Hypopigmentation in Angelman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)

1 reference

12 December 2020

Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism

1 reference

12 December 2020

Molecular characterization of two proximal deletion breakpoint regions in both Prader-Willi and Angelman syndrome patients

1 reference

12 December 2020

Report and abstracts of the Second International Workshop on Human Chromosome 15 Mapping. England, February 18-20, 1994.

1 reference

12 December 2020

Tissue-specific expression of the prostatic secretory protein PSP94 in cynomolgus monkey (Macaca fascicularis

1 reference

12 December 2020

10.1002/(SICI)1096-8628(19970711)71:1<57::AID-AJMG11>3.0.CO;2-U

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9215770%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

9215770

1 reference