Literature DB >> 19764030

Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV.

Antonio Viñuela1, Matías Morín, Manuela Villamar, Constantino Morera, M José Lavilla, Laura Cavallé, Miguel A Moreno-Pelayo, Felipe Moreno, Ignacio del Castillo.   

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Year:  2009        PMID： 19764030     DOI： 10.1002/ajmg.a.33026

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  5 in total

Review 1.  Sox proteins in melanocyte development and melanoma.

Authors:  Melissa L Harris; Laura L Baxter; Stacie K Loftus; William J Pavan
Journal:  Pigment Cell Melanoma Res       Date:  2010-04-22       Impact factor: 4.693

2.  Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.

Authors:  M Elmaleh-Bergès; C Baumann; N Noël-Pétroff; A Sekkal; V Couloigner; K Devriendt; M Wilson; S Marlin; G Sebag; V Pingault
Journal:  AJNR Am J Neuroradiol       Date:  2012-12-13       Impact factor: 3.825

3.  Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Authors:  Christopher T Gordon; Florence Petit; Peter M Kroisel; Linda Jakobsen; Roseli Maria Zechi-Ceide; Myriam Oufadem; Christine Bole-Feysot; Solenn Pruvost; Cécile Masson; Frédéric Tores; Thierry Hieu; Patrick Nitschké; Pernille Lindholm; Philippe Pellerin; Maria Leine Guion-Almeida; Nancy Mizue Kokitsu-Nakata; Siulan Vendramini-Pittoli; Arnold Munnich; Stanislas Lyonnet; Muriel Holder-Espinasse; Jeanne Amiel
Journal:  Am J Hum Genet       Date:  2013-11-21       Impact factor: 11.025

4.  Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.

Authors:  Saketh Kapoor; Parayil Sankaran Bindu; Arun B Taly; Sanjib Sinha; Narayanappa Gayathri; S Vasantha Rani; Giriraj Ratan Chandak; Arun Kumar
Journal:  Mol Vis       Date:  2012-07-20       Impact factor: 2.367

5.  Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in SOX10.

Authors:  Xiaoyu Yu; Yun Lin; Hao Wu
Journal:  Neural Plast       Date:  2020-08-28       Impact factor: 3.599
  5 in total

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