2 documents found, page 1 of 1
From abortion-inducing medications to Zika Virus Syndrome: 27 years experience ...
Schüler-Faccini,Lavinia; Sanseverino,Maria Teresa Vieira; Abeche,Alberto Mantovani; Vianna,Fernanda Sales Luiz; Fraga,Lucas RosaAbstract In 1990, the first Teratogen Information Service in Brazil (SIAT) was implemented in the Medical Genetics Service at Hospital de Clinicas de Porto Alegre. SIAT is a free-to-use information service both to health professionals and the general population, especially to women who are pregnant or planning pregnancy. The main objective of this paper is to present the activities of SIAT in its initial years ...
Determining the pathogenicity of CFTR missense variants: Multiple comparisons o...
Michels,Marcus; Matte,Ursula; Fraga,Lucas Rosa; Mancuso,Aline Castello Branco; Ligabue-Braun,Rodrigo; Berneira,Elias Figueroa Rodrigues; Siebert,MarinaAbstract Pathogenic variants in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) are responsible for cystic fibrosis (CF), the commonest monogenic autosomal recessive disease, and CFTR-related disorders in infants and youth. Diagnosis of such diseases relies on clinical, functional, and molecular studies. To date, over 2,000 variants have been described on CFTR (~40% missense). Since few of t...