(Q36236002)

12 August 2017

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title

The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito. (English)

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12 August 2017

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Prader–Willi syndrome

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M H Brilliant

1

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12 August 2017

1 January 1992

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12 August 2017

5

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inferred from page(s)

published in

Mammalian Genome

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12 August 2017

3

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12 August 2017

187-191

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12 August 2017

4

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https://scigraph.springernature.com/pub.10.1007/bf00355717

12 August 2017

0 references

cites work

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

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

1 reference

12 December 2020

Coat color genes in rodents and carnivores

1 reference

12 December 2020

Effects on sperm morphology by alleles at the pink-eyed dilution locus in mice

1 reference

12 December 2020

Pleiotropic Effects of a Mutant at the P Locus from X-Irradiated Mice

1 reference

12 December 2020

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

1 reference

12 December 2020

Long-range restriction mapping and linkage analysis of the Prader-Willi chromosome region (PWCR)

1 reference

12 December 2020

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

1 reference

12 December 2020

Recurrence risk in the Angelman ("happy puppet") syndrome

1 reference

12 December 2020

Duplication of proximal 15q as a cause of Prader-Willi syndrome.

1 reference

12 December 2020

Mammalian pigment genetics

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

Microdissection of the Prader-Willi syndrome chromosome region and identification of potential gene sequences

1 reference

12 December 2020

Hypopigmentation in the Prader-Willi syndrome

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

Abnormal spermiogenesis in two pink-eyed sterile mutants in the mouse

1 reference

12 December 2020

The effects of mutant p-alleles on the reproductive system in mice

1 reference

12 December 2020

Endocrinological findings in sterile pink-eyed mice

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism

1 reference

12 December 2020

Embryological and molecular investigations of parental imprinting on mouse chromosome 7.

1 reference

12 December 2020

DNA deletion and its parental origin in Angelman syndrome patients

1 reference

12 December 2020

Male sterility caused by p6H and qk mutations is not corrected in chimeric mice

1 reference

12 December 2020

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

1 reference

12 December 2020

A Quantitative Histological Study of the Pigment Found in the Coat-Color Mutants of the House Mouse. IV. the Nature of the Effects of Genic Substitution in Five Major Allelic Series

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

Diagnosis of Angelman syndrome in infants

1 reference

12 December 2020

Visual evoked potentials in Prader-Willi syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

The tyrosinase-positive oculocutaneous albinism locus is not linked to the beta-globin locus in man

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

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Dystrophin: the protein product of the Duchenne muscular dystrophy locus

1 reference

12 December 2020

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

1 reference

12 December 2020

Localization of the gene encoding the GABAA receptor beta 3 subunit to the Angelman/Prader-Willi region of human chromosome 15

1 reference

12 December 2020

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

1 reference

12 December 2020

The Prader-Willi syndrome: a study of 40 patients and a review of the literature

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene expression at the pink-eyed dilution (p) locus in the mouse is confirmed to be pigment cell autonomous using recombinant embryonic skin grafts

1 reference

12 December 2020

Somatic recombination rather than uniparental disomy suggested as another mechanism by which genetic imprinting may play a role in the etiology of Prader-Willi syndrome

1 reference

12 December 2020

Genome imprinting phenomena on mouse chromosome 7

1 reference

12 December 2020

Spontaneous somatic reversion in mice effects of parental genotype on stability at the π-locus

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00355717

1 reference

12 August 2017

1 reference

PubMed ID

1611213