Items where Author is "Antonarakis, S. E."

2003

Deutsch, S. and Rideau, A. and Bochaton-Piallat, M. and Merla, G. and Geinoz, A. and Gabbiani, G. and Schwede, T. and Matthes, T. and Antonarakis, S. E. and Beris, P.. (2003) Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome. Blood, Vol. 102. pp. 529-534.

2002

Wattenhofer, M. and Di Iorio, M. V. and Rabionet, R. and Dougherty, L. and Pampanos, A. and Schwede, T. and Montserrat-Sentis, B. and Arbones, M. L. and Iliades, T. and Pasquadibisceglie, A. and D'Amelio, M. and Alwan, S. and Rossier, C. and Dahl, H. H. M. and Petersen, M. B. and Estivill, X. and Gasparini, P. and Scott, H. S. and Antonarakis, S. E.. (2002) Mutations in the TMPRSS3 gene are a rare cause of childhood non-syndromic deafness in Caucasian patients. Journal of molecular medicine, Vol. 80. pp. 124-131.

2001

Masmoudi, S. and Antonarakis, S. E. and Schwede, T. and Ghorbel, A. M. and Gratri, M. and Pappasavas, M. P. and Drira, M. and Elgaied Boulila, A. and Wattenhofer, M. and Rossier, C. and Scott, H. S. and Ayadi, H. and Guipponi, M.. (2001) Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness. Human mutation, Vol. 18, no. 2. pp. 101-108.