Literature DB >> 2732995

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

C E Wallis1, P H Beighton.   

Abstract

A Chinese girl with oculocutaneous albinism has the Prader-Willi syndrome and a normal karyotype. This association emphasises the importance of further molecular study of the 15(q12) region of the genome in the search for the locus of an albinism gene.

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Mesh：

Year:  1989        PMID： 2732995      PMCID： PMC1015603          DOI： 10.1136/jmg.26.5.337

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  6 in total

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

Authors:  M G Butler; F J Meaney; C G Palmer
Journal:  Am J Med Genet       Date:  1986-03

2.  Clinical comparison of 59 Prader-Willi patients with and without the 15(q12) deletion.

Authors:  S L Wenger; J M Hanchett; M W Steele; B V Maier; W L Golden
Journal:  Am J Med Genet       Date:  1987-12

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

Authors:  H M Hittner; R A King; V M Riccardi; D H Ledbetter; R P Borda; R E Ferrell; F L Kretzer
Journal:  Am J Ophthalmol       Date:  1982-09       Impact factor: 5.258

4.  [Familial oculo-cutaneous hypopigmentation of dominant transmission due to a disorder in melanocyte formation. Association of Prader-Willi syndrome with a chromosome abnormality in one of the subjects involved].

Authors:  E Frenk; A Calame
Journal:  Schweiz Med Wochenschr       Date:  1977-12-31

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

Authors:  D J Creel; C M Bendel; G L Wiesner; J D Wirtschafter; D C Arthur; R A King
Journal:  N Engl J Med       Date:  1986-06-19       Impact factor: 91.245

6.  Hypopigmentation in the Prader-Willi syndrome.

Authors:  G L Wiesner; C M Bendel; D P Olds; J G White; D C Arthur; D W Ball; R A King
Journal:  Am J Hum Genet       Date:  1987-05       Impact factor: 11.025
  6 in total
  6 in total

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

Authors:  Y Nakatsu; Y Gondo; M H Brilliant
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

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

Authors:  M Ramsay; M A Colman; G Stevens; E Zwane; J Kromberg; M Farrall; T Jenkins
Journal:  Am J Hum Genet       Date:  1992-10       Impact factor: 11.025

3.  Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele.

Authors:  R A Spritz; T Bailin; R D Nicholls; S T Lee; S K Park; M J Mascari; M G Butler
Journal:  Am J Med Genet       Date:  1997-07-11

Review 4.  The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.

Authors:  M H Brilliant
Journal:  Mamm Genome       Date:  1992       Impact factor: 2.957

5.  Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation.

Authors:  I R Walpole; M T Mulcahy
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

6.  Multimodal imaging in a patient with Prader-Willi syndrome.

Authors:  Mohamed A Hamid; Mitul C Mehta; Baruch D Kuppermann
Journal:  Int J Retina Vitreous       Date:  2018-11-30
  6 in total

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