Browsing by Author Sartorato, EL

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PreviewIssue DateTitleAuthor(s)AdvisorType
2004Frequency of the 35delG mutation in the GJB2 gene in samples of European, Asian, and African BraziliansOliveira, CA; Alexandrino, E; Abe-Sandes, K; Silva, WA; Maciel-Guerra, AT; Magna, LA; Sartorato, EL-Artigo de periódico
2001Glycogen storage disease type Ia: molecular study in Brazilian patientsReis, FD; Caldas, HC; Norato, DYJ; Schwartz, IVD; Giugliani, R; Burin, MG; Sartorato, EL-Artigo de periódico
2003Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter studydel Castillo, I; Moreno-Pelayo, MA; del Castillo, FJ; Brownstein, Z; Marlin, S; Adina, Q; Cockburn, DJ; Pandya, A; Siemering, KR; Chamberlin, GP; Ballana, E; Wuyts, W; Maciel-Guerra, AT; Alvarez, A; Villamar, M; Shohat, M; Abeliovich, D; Dahl, HHM; Estivill, X; Gasparini, P; Hutchin, T; Nance, WE; Sartorato, EL; Smith, RJH; Van Camp, G; Avraham, KB; Petit, C; Moreno, F-Artigo de periódico
2004Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafnessPiatto, VB; Bertollo, EMG; Sartorato, EL; Maniglia, JV-Artigo de periódico
2011Searching for Digenic Inheritance in Deaf Brazilian Individuals Using the Multiplex Ligation-Dependent Probe Amplification Techniqueda Silva-Costa, SM; Martins, FTA; Pereira, T; Pomilio, MCA; Marques-de-Faria, AP; Sartorato, EL-Artigo de periódico
2007Molecular study in Brazilian cochlear implant recipientsChristiani, TV; Alexandrino, F; de Oliveira, CA; Amantini, RCB; Bevilacqua, MC; Costa, OA; Porto, P; Sartorato, EL-Artigo de periódico
2002Deafness resulting from mutations in the GJB2 (connexin 26) gene in Brazilian patientsOliveira, CA; Maciel-Guerra, AT; Sartorato, EL-Artigo de periódico
2010Leber's hereditary optic neuropathy: Clinical and molecular profile of a Brazilian sampleMaciel-Guerra, AT; Zanchetta, LM; Fernandes, MSA; Andrade, PB; Miranda, PMDD; Sartorato, EL-Artigo de periódico
2010Newborn hearing screening and genetic testing in 8974 Brazilian neonatesNivoloni, KDB; da Silva-Costa, SM; Pomilio, MCA; Pereira, T; Lopes, KD; de Moraes, VCS; Alexandrino, F; de Oliveira, CA; Sartorato, EL-Artigo de periódico
2004Somatic and germ cell cytogenetic studies and AZF microdeletion screening in infertile menCarrara, RCV; Yamasaki, R; Mazucatto, LF; Veludo, MAL; Sartorato, EL; Pina-Neto, JM-Artigo de periódico
2008Type II Autosomal Recessive Cutis Laxa: Report of Another Patient and Molecular Studies Concerning Three Candidate GenesScherrer, DZ; Alexandrino, F; Cintra, ML; Sartorato, EL; Steiner, CE-Artigo de periódico
2007Allelic frequencies of the 35delG mutation of the GJB2 gene in different Brazilian regionsOliveira, CA; Pimpinati, CJ; Alexandrino, F; Magna, LA; Maciel-Guerra, AT; Sartorato, EL-Artigo de periódico
1998A novel mutation in a Brazilian patient with glycogen storage disease type 1aSartorato, EL; Reis, FC; Norato, DYJ; Hackel, C-Artigo de periódico
2005A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairmentdel Castillo, FJ; Rodriguez-Ballesteros, M; Alvarez, A; Hutchin, T; Leonardi, E; de Oliveira, CA; Azaiez, H; Brownstein, Z; Avenarius, MR; Marlin, S; Pandya, A; Shahin, H; Siemering, KR; Weil, D; Wuyts, W; Aguirre, LA; Martin, Y; Moreno-Pelayo, MA; Villamar, M; Avraham, KB; Dahl, HHM; Kanaan, M; Nance, W; Petit, C; Smith, RJH; Van Camp, G; Sartorato, EL; Murgia, A; Moreno, F; del Castillo, I-Artigo de periódico
2009Screening for the GJB2 c.-3170 G > A (IVS 1+1 G > A) Mutation in Brazilian Deaf Individuals Using Multiplex Ligation-Dependent Probe Amplificationda Silva-Costa, SM; Coeli, FB; Lincoln-de-Carvalho, CR; Marques-de-Faria, AP; Kurc, M; Pereira, T; Pomilio, MCA; Sartorato, EL-Artigo de periódico
2009Study of modifiers factors associated to mitochondrial mutations in individuals with hearing impairmentde Moraes, VCS; Alexandrino, F; Andrade, PB; Camara, MF; Sartorato, EL-Artigo de periódico
2013Study of candidate genes for dyslexia in Brazilian individualsSvidnicki, MCCM; Salgado, CA; Lima, RF; Ciasca, SM; Secolin, R; Pomilio, MCA; Junqueira, PA; Pinto, MS; Pereira, MM; Sartorato, EL-Artigo de periódico
2006Sjogren-Larsson syndrome in Brazil is caused by a common c.1108-1G -> C splice-site mutation in the ALDH3A2 geneAuada, MP; Puzzi, MB; Cintra, ML; Steiner, CE; Alexandrino, F; Sartorato, EL; Aguiar, TS; Azulay, RD; Carney, G; Rizzo, WB-Artigo de periódico
2010A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expressionWilch, E; Azaiez, H; Fisher, RA; Elfenbein, J; Murgia, A; Birkenhager, R; Bolz, H; da Silva-Costa, SM; del Castillo, I; Haaf, T; Hoefsloot, L; Kremer, H; Kubisch, C; Le Marechal, C; Pandya, A; Sartorato, EL; Schneider, E; Van Camp, G; Wuyts, W; Smith, RJH; Friderici, KH-Artigo de periódico
2003Connexin 26 35delG does not represent a mutational hotspotRothrock, CR; Murgia, A; Sartorato, EL; Leonardi, E; Wei, SN; Lebeis, SL; Yu, LE; Elfenbein, JL; Fisher, RA; Friderici, KH-Artigo de periódico