Literature DB >> 4140688

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

S J Funderburk, B F Crandall.   

Abstract

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Year:  1974        PMID： 4140688      PMCID： PMC1762855     

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


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  15 in total

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

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

2.  Deletion from the long arm of chromosome 4 (46,XX,4q-) associated with congenital anomalies.

Authors:  M S Golbus; F A Conte; D L Daentl
Journal:  J Med Genet       Date:  1973-03       Impact factor: 6.318

3.  Retinoblastoma and D-chromosome deletions.

Authors:  M G Wilson; J W Towner; A Fujimoto
Journal:  Am J Hum Genet       Date:  1973-01       Impact factor: 11.025

4.  A rapid banding technique for human chromosomes.

Authors:  M Seabright
Journal:  Lancet       Date:  1971-10-30       Impact factor: 79.321

5.  Retinoblastoma and D-chromosome deletions.

Authors:  E Orye; M J Delbeke; B Vandenabeele
Journal:  Lancet       Date:  1971-12-18       Impact factor: 79.321

Review 6.  The meiotic behavior of the Drosophila oocyte.

Authors:  R C King
Journal:  Int Rev Cytol       Date:  1970

7.  High resolution studies on the pattern of induced exchanges in the human karyotype.

Authors:  M Seabright
Journal:  Chromosoma       Date:  1973       Impact factor: 4.316

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

Authors:  M A Telfer; M Sugar; E A Jaeger; J Mulcahy
Journal:  Am J Hum Genet       Date:  1971-07       Impact factor: 11.025

9.  Sleep related human growth hormone (GH) release: a test of physiologic growth hormone secretion in children.

Authors:  J W Mace; R W Gotlin; P Beck
Journal:  J Clin Endocrinol Metab       Date:  1972-02       Impact factor: 5.958

10.  Segmental aneuploidy and the genetic gross structure of the Drosophila genome.

Authors:  D L Lindsley; L Sandler; B S Baker; A T Carpenter; R E Denell; J C Hall; P A Jacobs; G L Miklos; B K Davis; R C Gethmann; R W Hardy; A H Steven; M Miller; H Nozawa; D M Parry; M Gould-Somero; M Gould-Somero
Journal:  Genetics       Date:  1972-05       Impact factor: 4.562
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  11 in total

1.  Interstitial deletion, del(4)(q12q21.1), owing to de novo unbalanced translocation in a 2 year old girl: further evidence that the piebald trait maps to proximal 4q12.

Authors:  A Schinzel; C P Braegger; L Brecevic; F Dutly; F Binkert
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

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

Authors:  Y Lacassie; T F Thurmon; M C Tracy; M Z Pelias
Journal:  Am J Hum Genet       Date:  1977-11       Impact factor: 11.025

3.  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

4.  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 5.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

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

Review 6.  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

7.  A homozygote for pericentric inversion of chromosome 4.

Authors:  N J Carpenter; B Say; N D Barber
Journal:  J Med Genet       Date:  1982-12       Impact factor: 6.318

8.  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

9.  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

10.  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
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