(Q24669671)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415228

24 September 2022

M. A. Colman

2

1 reference

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24 September 2022

G. Stevens

3

1 reference

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24 September 2022

E. Zwane

4

1 reference

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24 September 2022

J. Kromberg

5

1 reference

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24 September 2022

M. Farrall

6

1 reference

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24 September 2022

T. Jenkins

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415228

full work available at URL

24 September 2022

language of work or name

English

0 references

publication date

October 1992

0 references

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1415228/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415228

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1415228/?tool=EBI

24 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415228

https://europepmc.org/articles/PMC1682821

24 September 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415228

https://europepmc.org/articles/PMC1682821?pdf=render

24 September 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1415228

American Journal of Human Genetics

24 September 2022

published in

0 references

volume

51

0 references

issue

4

0 references

page(s)

879-84

0 references

cites work

Isolation and sequence of a cDNA clone for human tyrosinase that maps at the mouse c-albino locus

1 reference

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A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse

7 April 2017

1 reference

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The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7

7 April 2017

1 reference

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Strategies for multilocus linkage analysis in humans

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

Mapping of the thrombospondin gene to human chromosome 15 and mouse chromosome 2 by in situ hybridization

7 April 2017

1 reference

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Inappropriate use of albino animals as models in research.

7 April 2017

1 reference

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Hypopigmentation in the Prader-Willi syndrome

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

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

28 September 2017

1 reference

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

Chromosome maps of man and mouse. IV.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

Dinucleotide repeat polymorphism at the human thrombospondin gene (THBS1).

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

Dinucleotide repeat polymorphism of D15S10 in the Prader-Willi chromosome region (PWCR)

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

DNA deletion and its parental origin in Angelman syndrome patients

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

A third Taql allele is detected by the probe pTD3–21 (D15S10) in Southern African chromosomes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

Oculocutaneous albinoidism as a manifestation of reduced neural crest derivatives in the Prader-Willi syndrome

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

Abnormalities of the central visual pathways in Prader-Willi syndrome associated with hypopigmentation.

30 May 2018

1 reference

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30 May 2018

1 reference

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Albinism and skin cancer in Southern Africa.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

Diagnosis of Angelman syndrome in infants

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

In quest of the tyrosinase-positive oculocutaneous albinism gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

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

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682821

The p locus is closely linked to the mouse homolog of a gene from the Prader-Willi chromosomal region

28 November 2018

1 reference

12 December 2020

Direct Molecular Identification of the Mouse Pink-Eyed Unstable Mutation by Genome Scanning

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

A distinctive pigment of the skin in New Guinea indigenes

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12 December 2020

Prevalence of albinism in the South African negro

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12 December 2020

The syntenic relationship between the critical deletion region for the Prader-Willi/Angelman syndromes and proximal mouse chromosome 7

1 reference

12 December 2020