Literature DB >> 8162027

A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family.

J Butt1, J Greenberg, I Winship, S Sellars, P Beighton, R Ramesar.   

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Year:  1994        PMID： 8162027     DOI： 10.1093/hmg/3.1.197

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN： 0964-6906            Impact factor:   6.150


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  7 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.  Targeting the microphthalmia basic helix-loop-helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo.

Authors:  I Aksan; C R Goding
Journal:  Mol Cell Biol       Date:  1998-12       Impact factor: 4.272

3.  Brachyury-related transcription factor Tbx2 and repression of the melanocyte-specific TRP-1 promoter.

Authors:  S Carreira; T J Dexter; U Yavuzer; D J Easty; C R Goding
Journal:  Mol Cell Biol       Date:  1998-09       Impact factor: 4.272

4.  A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome.

Authors:  F A Hol; B C Hamel; M P Geurds; R A Mullaart; F G Barr; R A Macina; E C Mariman
Journal:  J Med Genet       Date:  1995-01       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.  Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.

Authors:  A K Lalwani; J R Brister; J Fex; K M Grundfast; B Ploplis; T B San Agustin; E R Wilcox
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

7.  Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.

Authors:  Noluthando Manyisa; Samuel Mawuli Adadey; Edmond Wonkam-Tingang; Abdoulaye Yalcouye; Ambroise Wonkam
Journal:  OMICS       Date:  2022-01
  7 in total

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