Literature DB >> 6340503

Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III).

D Klein.   

Abstract

Entities:  

Mesh：

Year:  1983        PMID： 6340503     DOI： 10.1002/ajmg.1320140205

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  12 in total

Review 1.  Waardenburg syndrome.

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

2.  Facts on PAX.

Authors:  J W Pierpont; R P Erickson
Journal:  Am J Hum Genet       Date:  1993-03       Impact factor: 11.025

3.  Mouse and hamster mutants as models for Waardenburg syndromes in humans.

Authors:  J H Asher; T B Friedman
Journal:  J Med Genet       Date:  1990-10       Impact factor: 6.318

4.  Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7.

Authors:  M L Carey; T B Friedman; J H Asher; J W Innis
Journal:  J Med Genet       Date:  1998-03       Impact factor: 6.318

5.  Locus heterogeneity for Waardenburg syndrome is predictive of clinical subtypes.

Authors:  L A Farrer; K S Arnos; J H Asher; C T Baldwin; S R Diehl; T B Friedman; J Greenberg; K M Grundfast; C Hoth; A K Lalwani
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

6.  Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

Authors:  L A Farrer; K M Grundfast; J Amos; K S Arnos; J H Asher; P Beighton; S R Diehl; J Fex; C Foy; T B Friedman
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

Review 7.  Congenital hearing impairment.

Authors:  Caroline D Robson
Journal:  Pediatr Radiol       Date:  2006-02-08

8.  Sensorineural deafness, distinctive facial features, and abnormal cranial bones: a new variant of Waardenburg syndrome?

Authors:  Alona Gad; Mercy Laurino; Kenneth R Maravilla; Mark Matsushita; Wendy H Raskind
Journal:  Am J Med Genet A       Date:  2008-07-15       Impact factor: 2.802

9.  Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

Authors:  G Van Camp; M N Van Thienen; I Handig; B Van Roy; V S Rao; A Milunsky; A P Read; C T Baldwin; L A Farrer; M Bonduelle
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318

10.  Clinical manifestations of Waardenburg syndrome in a male adolescent in Mali, West Africa.

Authors:  Pascal James Imperato; Gavin H Imperato
Journal:  J Community Health       Date:  2015-02
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