Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Edi L Sartorato"'
Autor:
Vanessa C S de Moraes, Emanuele Bernardinelli, Nathalia Zocal, Jhonathan A Fernandez, Charity Nofziger, Arthur M Castilho, Edi L Sartorato, Markus Paulmichl, Silvia Dossena
Publikováno v:
Molecular Medicine, Vol 22, Iss 1, Pp 41-53 (2016)
Abstract Sequence alterations in the pendrin gene (SLC26A4) leading to functionally affected protein variants are frequently involved in the pathogenesis of syndromic and nonsyndromic deafness. Considering the high number of SLC26A4 sequence alterati
Externí odkaz:
https://doaj.org/article/88b48615ee4a46489d266e59a5678e87
Autor:
Vânia B. Piatto, Camila A. Oliveira, Fabiana Alexandrino, Carla J. Pimpinati, Edi L. Sartorato
Publikováno v:
Jornal de Pediatria, Vol 81, Iss 2, Pp 139-142 (2005)
OBJETIVO: Investigar a prevalência da mutação 35delG em amostra de recém-nascidos, com teste molecular específico; avaliar as perspectivas para a triagem neonatal genética para a deficiência auditiva. CASUÍSTICA E MÉTODO: Foram avaliados 223
Externí odkaz:
https://doaj.org/article/59739c50b5dc400ba05a824d3355eb4a
Autor:
Rita C. V. Carrara, Rui Yamasaki, Luís F. Mazucatto, Maria A. Llorach Veludo, Edi L. Sartorato, João M. Pina-Neto
Publikováno v:
Genetics and Molecular Biology, Vol 27, Iss 4, Pp 477-482 (2004)
Clinical and cytogenetic studies were performed in 65 infertile individuals, and 56 of them were also screened for microdeletions in Yq11 (AZF region). Relevant environmental etiological factors were identified in 10 cases (15.4%). Sertoli-cell-only
Externí odkaz:
https://doaj.org/article/fcee6c5b65114da59e8b9bc22f974d92
Autor:
Fernanda C, Reis, Fabiana, Alexandrino, Carlos E, Steiner, Denise Y J, Norato, Denise P, Cavalcanti, Edi L, Sartorato
Publikováno v:
Journal of applied genetics. 46(1)
Osteogenesis imperfecta (OI) is a genetic disorder of increased bone fragility and low bone mass. Severity varies widely, ranging from intrauterine fractures and perinatal lethality to very mild forms without fractures. Most patients with a clinical
Autor:
Fabiana, Alexandrino, Camila A, Oliveira, Fernanda C, Reis, Andréa T, Maciel-Guerra, Edi L, Sartorato
Publikováno v:
Journal of applied genetics. 45(2)
Deafness is a complex disorder that is affected by a high number of genes and environmental factors. Recently, enormous progress has been made in nonsyndromic deafness research, with the identification of 90 loci and 33 nuclear and 2 mitochondrial ge