Biography

Sergio Arías Cazorla, Venezuelan human geneticist (Caracas 10 June 1933 –

Described Arias syndrome

With V.B. Penchaszadeh, J. Pinto-Cisternas & S. Laurrauri. The IVIC syndrome: a new autosomal dominant complex pleiotropic syndrome with radial ray hypoplasia, hearing impairment, internal ophthalmoplegia and thrombocytopenia. Am. J. Medical Genetics 6:25-9, 1980 

Described Waardenburg syndrome type II and a biometrical method for diagnosing it

Genetic heterogeinity in the Waardenburg syndrome. Birth Def. Orig. Art. Ser. 7(4):87-103, 1971

Described another new syndrome

With M. Mota & J. Pinto Cisternas. L’osteochondrodysplasie spondyloepiphyso-metaphysaire type Irapa. Nouveau nanisme avec rachis et metatarsiens courts. Nouv. Presse Méd. 5:319-23, 1976

Demonstrated that retinoblastoma displays always a hereditary etiology

A new method for quantitation of H-Y antigen

With H. Venegas. Nuevo metodo de cuantificación del antígeno H-Y solubilizado, com imunoprecipitación detectada por nefelometria. Acta Cient. Venez. 37 Suppl. 1:70, 1986

LINKS

www.ivic.gob.ve/medicina/genetica/arias.doc