Literature DB >> 2339698

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse.

C Foy1, V Newton, D Wellesley, R Harris, A P Read.   

Abstract

We have demonstrated close linkage between the locus for the autosomal dominant Waardenburg syndrome type I and the placental alkaline phosphatase locus on chromosome 2q37. In five families the peak lod score was 4.76 at a recombination fraction of .023. In the mouse the Splotch locus maps to near the homologous position. Splotch mice have white spotting and hearing defects, suggesting that Splotch may be the murine homologue of Waardenburg syndrome type I.

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Year:  1990        PMID： 2339698      PMCID： PMC1683816     

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


  33 in total

1.  Probable loose linkage between the ABO locus and Waardenburg syndrome type I.

Authors:  S Arias; M Mota; A Yánez; M Bolivar
Journal:  Humangenetik       Date:  1975

2.  Tomographic findings of the inner ears of 24 patients with Waardenburg's syndrome.

Authors:  J Nemansky; M J Hageman
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1975-06

3.  Current status of the ABO-Waardenburg syndrome type I linkage.

Authors:  S Arias; M Mota
Journal:  Cytogenet Cell Genet       Date:  1978

4.  The association of familial hyperbetalipoproteinaemia with Waardenburg's syndrome.

Authors:  M Amer; M el-Shazly
Journal:  Br J Dermatol       Date:  1974-03       Impact factor: 9.302

5.  Waardenburg's syndrome in two siblings, both parents and their maternal grandmother.

Authors:  T J David; R P Warin
Journal:  Proc R Soc Med       Date:  1972-07

6.  Genetic heterogeneity in the Waardenburg syndrome.

Authors:  S Arias
Journal:  Birth Defects Orig Artic Ser       Date:  1971-03

7.  Partial albinism.

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

8.  Influence of the neural tube on the differentiation of the inner ear in the mammalian embryo.

Authors:  M S Deol
Journal:  Nature       Date:  1966-01-08       Impact factor: 49.962

9.  Pigmentary disorders in association with congenital deafness.

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

Review 10.  Heterogeneity in Waardenburg syndrome.

Authors:  M J Hageman; J W Delleman
Journal:  Am J Hum Genet       Date:  1977-09       Impact factor: 11.025
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  24 in total

Review 1.  Waardenburg syndrome.

Authors:  A P Read; V E Newton
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

Review 2.  Genetic deafness.

Authors:  W Reardon
Journal:  J Med Genet       Date:  1992-08       Impact factor: 6.318

3.  The genetics of deafness.

Authors:  W Reardon; M Pembrey
Journal:  Arch Dis Child       Date:  1990-11       Impact factor: 3.791

Review 4.  Splotch locus mouse mutants: models for neural tube defects and Waardenburg syndrome type I in humans.

Authors:  C E Moase; D G Trasler
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

5.  Is there a genetic basis for Fuchs' heterochromic uveitis? Discordance in monozygotic twins.

Authors:  N P Jones; A P Read
Journal:  Br J Ophthalmol       Date:  1992-01       Impact factor: 4.638

6.  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

Review 7.  Mapping dysmorphic syndromes with the aid of the human/mouse homology map.

Authors:  R P Erickson
Journal:  Am J Hum Genet       Date:  1990-06       Impact factor: 11.025

Review 8.  The incidence of deafness is non-randomly distributed among families segregating for Waardenburg syndrome type 1 (WS1).

Authors:  R Morell; T B Friedman; J H Asher; L G Robbins
Journal:  J Med Genet       Date:  1997-06       Impact factor: 6.318

Review 9.  Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease.

Authors:  Jennifer D Kubic; Kacey P Young; Rebecca S Plummer; Anton E Ludvik; Deborah Lang
Journal:  Pigment Cell Melanoma Res       Date:  2008-12       Impact factor: 4.693

Review 10.  Chromosomal and related Mendelian syndromes associated with Hirschsprung's disease.

Authors:  S W Moore
Journal:  Pediatr Surg Int       Date:  2012-09-23       Impact factor: 1.827
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