Screening of the USH1G Gene among Spanish Patients with Usher Syndrome. Lack of Mutations and Evidence of a Minor Role in the Pathogenesis of the Syndrome

By Aller Elena   Jaijo Teresa   Beneyto Magdalena   Nájera Carmen   Morera Constantino   Pérez-Garrigues Herminio   Ayuso Carmen   Millán Jose  

Ophthalmic Genetics, Vol. 28, Iss. 3, 2007-07 ,pp. : 151-155

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Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2)

By Beneyto Magdalena   Cuevas José M.   Millán José M.   Espinós Carmen   Mateu Emilia   González-Cabo Pilar   Baiget Montserrat   Doménech Montserrat   Bernal Sara   Ayuso Carmen   García-Sandoval Blanca   Trujillo Ma José   Borrego Salud   Antiñolo Guillermo   Carballo Miguel   Nájera Carmen  

Ophthalmic Genetics, Vol. 21, Iss. 2, 2000-06 ,pp. : 123-128

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Four Novel Mutations in the PITX2 Gene in Patients with Axenfeld-Rieger Syndrome

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Ophthalmic Research, Vol. 34, Iss. 5, 2002-10 ,pp. : 324-326

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A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome

By Akoury Elie   El Zir Elie   Mansour Ahmad   Mégarbané André   Majewski Jacek   Slim Rima  

Ophthalmic Genetics, Vol. 32, Iss. 4, 2011-11 ,pp. : 245-249

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The changing face of Usher syndrome: Clinical implications

By Cohen Mazal   Bitner-Glindzicz Maria   Luxon Linda  

International Journal of Audiology, Vol. 46, Iss. 2, 2007-02 ,pp. : 82-93

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