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Torsten Schwede

Research Profile

Concepts & Ideas

Anatomy

Disorders

Physiology

Missense Mutation

Chemicals & Drugs

Procedures

Genes & Molecular Sequences

Amino Acid Sequences

Geographic Areas

Tunisia

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Co-author Network

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Publications

TOP 3
Samuel Deutsch; Alexandra Rideau; Marie-Luce Bochaton-Piallat; Giuseppe Merla; Antoine Geinoz; Giulio Gabbiani; Torsten Schwede; Thomas Matthes; Stylianos E Antonarakis; Photis Beris
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
Marie Wattenhofer; Mario Vincenzo Di Iorio; Raquel Rabionet; Loretta Dougherty; Andreas Pampanos; Torsten Schwede; Barbara Montserrat-Sentis; Maria Lourdes Arbones; Theophilos Iliades; Annamaria Pasquadibisceglie; Marcello D'Amelio; Sura Alwan; Colette Rossier; Hans-Henrik M Dahl; Michael B Petersen; Xavier Estivill; Paolo Gasparini; Hamish Scott; Stylianos E Antonarakis
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Saber Masmoudi; Stylianos E Antonarakis; Torsten Schwede; Ali Ghorbel; M Gratri; M P Pappasavas; Mohamed Drira; A Elgaied-Boulila; Marie Wattenhofer; Colette Rossier; Hamish Scott; Hammadi Ayadi; Michel Guipponi
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

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All Publications

2003: Samuel Deutsch; Alexandra Rideau; Marie-Luce Bochaton-Piallat; Giuseppe Merla; Antoine Geinoz; Giulio Gabbiani; Torsten Schwede; Thomas Matthes; Stylianos E Antonarakis; Photis Beris
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
Blood 2003;102(2):529-34.
2002: Marie Wattenhofer; Mario Vincenzo Di Iorio; Raquel Rabionet; Loretta Dougherty; Andreas Pampanos; Torsten Schwede; Barbara Montserrat-Sentis; Maria Lourdes Arbones; Theophilos Iliades; Annamaria Pasquadibisceglie; Marcello D'Amelio; Sura Alwan; Colette Rossier; Hans-Henrik M Dahl; Michael B Petersen; Xavier Estivill; Paolo Gasparini; Hamish Scott; Stylianos E Antonarakis
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Journal of molecular medicine (Berlin, Germany) 2002;80(2):124-31.
2001: Saber Masmoudi; Stylianos E Antonarakis; Torsten Schwede; Ali Ghorbel; M Gratri; M P Pappasavas; Mohamed Drira; A Elgaied-Boulila; Marie Wattenhofer; Colette Rossier; Hamish Scott; Hammadi Ayadi; Michel Guipponi
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
Human mutation 2001;18(2):101-8.

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