Literature DB >> 5097904

Dominant piebald trait (white forelock and leukoderma) with neurological impairment.

M A Telfer, M Sugar, E A Jaeger, J Mulcahy.   

Abstract

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Year:  1971        PMID： 5097904      PMCID： PMC1706704     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  5 in total

1.  Partial albinism and deaf-mutism due to a recessive sex-linked gene.

Authors:  L ZIPRKOWSKI; A KRAKOWSKI; A ADAM; H COSTEFF; J SADE
Journal:  Arch Dermatol       Date:  1962-10

2.  A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

Authors:  P J WAARDENBURG
Journal:  Am J Hum Genet       Date:  1951-09       Impact factor: 11.025

3.  Familial white skin spotting (piebaldness) ("partial albinism") with white forelock.

Authors:  J V COOKE
Journal:  J Pediatr       Date:  1952-07       Impact factor: 4.406

4.  Partial albinism.

Authors:  D E Comings; G F Odland
Journal:  JAMA       Date:  1966-02-14       Impact factor: 56.272

5.  Pigmentary disorders in association with congenital deafness.

Authors:  W B Reed; V M Stone; E Boder; L Ziprkowski
Journal:  Arch Dermatol       Date:  1967-02
  5 in total
  6 in total

1.  Concurrence of dominant piebald trait and fragile X syndrome.

Authors:  B Finucane; C I Scott; M B Kurtz
Journal:  Am J Hum Genet       Date:  1991-04       Impact factor: 11.025

2.  Deletion of the c-kit protooncogene in the human developmental defect piebald trait.

Authors:  R A Fleischman; D L Saltman; V Stastny; S Zneimer
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-01       Impact factor: 11.205

3.  Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

Authors:  S J Funderburk; B F Crandall
Journal:  Am J Hum Genet       Date:  1974-11       Impact factor: 11.025

4.  Expansion and contraction of hypomelanotic areas in human piebaldism.

Authors:  B K Davis; L D Verdol
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

5.  Steel mutant mice are deficient in hippocampal learning but not long-term potentiation.

Authors:  B Motro; J M Wojtowicz; A Bernstein; D van der Kooy
Journal:  Proc Natl Acad Sci U S A       Date:  1996-03-05       Impact factor: 11.205

6.  Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.

Authors:  R A Fleischman
Journal:  J Clin Invest       Date:  1992-06       Impact factor: 14.808
  6 in total

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