Literature DB >> 930930

Piebald trait in a retarded child with interstitial deletion of chromosome 4.

Y Lacassie, T F Thurmon, M C Tracy, M Z Pelias.   

Abstract

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Year:  1977        PMID： 930930      PMCID： PMC1685501     

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


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  4 in total

1.  Balanced translocations involving chromosome 12: report of a case and possible evidence for position effect.

Authors:  B Biederman; P Bowen
Journal:  Ann Genet       Date:  1976-12

2.  Improvement of trypsin method for banding chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1973-06-02       Impact factor: 79.321

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.  Mental retardation associated with "balanced" chromosome rearrangements.

Authors:  S J Funderburk; M A Spence; R S Sparkes
Journal:  Am J Hum Genet       Date:  1977-03       Impact factor: 11.025
  4 in total
  8 in total

1.  A new interstitial deletion of 4q (q21.1::q22.1).

Authors:  K Fagan; A Gill
Journal:  J Med Genet       Date:  1989-10       Impact factor: 6.318

2.  Tentative assignment of piebald trait gene to chromosome band 4q12.

Authors:  J J Hoo; R H Haslam; C van Orman
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

Review 3.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

Review 4.  Toward the complete genomic map and molecular pathology of human chromosome 4.

Authors:  O Riess; B Winkelmann; J T Epplen
Journal:  Hum Genet       Date:  1994-07       Impact factor: 4.132

5.  Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

Authors:  L B Giebel; R A Spritz
Journal:  Proc Natl Acad Sci U S A       Date:  1991-10-01       Impact factor: 11.205

Review 6.  Interstitial deletion of bands 4q12-->q13.1: case report and review of proximal 4q deletions.

Authors:  A Slavotinek; H Kingston
Journal:  J Med Genet       Date:  1997-10       Impact factor: 6.318

7.  Mutations of the KIT (mast/stem cell growth factor receptor) proto-oncogene account for a continuous range of phenotypes in human piebaldism.

Authors:  R A Spritz; S A Holmes; R Ramesar; J Greenberg; D Curtis; P Beighton
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

8.  Dominant negative and loss of function mutations of the c-kit (mast/stem cell growth factor receptor) proto-oncogene in human piebaldism.

Authors:  R A Spritz; L B Giebel; S A Holmes
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025
  8 in total

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