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Showing results 1 to 18 of 18
PreviewIssue DateTitleAuthor(s)AdvisorType
2005New mutations, hotspots, and founder effects in Brazilian patients with steroid 5 alpha-reductase deficiency type 2Hackel, C; Oliveira, LEC; Ferraz, LFC; Tonini, MMO; Silva, DN; Toralles, MB; Stuchi-Perez, EG; Guerra, G-Artigo de periódico
1-Mar-2014Clinical features and management of hereditary spastic paraplegiaFaber, Ingrid; Servelhere, Katiane R.; Martinez, Alberto R. M.; D?Abreu, Anelyssa; Lopes-Cendes, Iscia; França Jr, Marcondes C.-Artigo de periódico
2012Cleidocranial dysplasia: oral features and genetic analysis of 11 patientsBufalino, A; Paranaiba, LMR; Gouvea, AF; Gueiros, LA; Martelli, H; Junior, JJ; Lopes, MA; Graner, E; de Almeida, OP; Vargas, PA; Coletta, RD-Artigo de periódico
1999A novel nonsense mutation 6,E-X in the protein S gene causes type I deficiencyPugliese, L; Arruda, VR; Annichino-Bizzacchi, JM-Artigo de periódico
2001Antithrombin deficiency in Brazilian patients with venous thrombosis molecular characterization of a single splice site mutation, an insertion and a de novo point mutationArnaldi, LAT; Pretti, FA; Zampieri, JP; Ramos, CF; Arruda, VR; Annichino-Bizzacchi, JM-Artigo de periódico
2002beta-Spectrin Sao Paulo(II), a novel frameshift mutation of the beta-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNABasseres, DS; Tavares, AC; Costa, FF; Saad, STO-Artigo de periódico
1-Oct-2008Interação entre audiologia e genética no estudo de uma família: a complexidade do diagnóstico molecular e do aconselhamento genéticoHoffmann, Flavia Maria Rodrigues; Rodrigues, Patrícia Fernandes; Santos, Teresa Maria Momensohn dos; Sartorato, Edi Lucia; Maciel-Guerra, Andréa Trevas; Matas, Carla Gentile; de Moraes, Vanessa Cristine Sousa-Artigo de periódico
1-Jun-2001Detection of somatic mutations of the PIG-A gene in Brazilian patients with paroxysmal nocturnal hemoglobinuriaFranco de Carvalho, R.; Arruda, V.R.; Saad, S.T.O.; Costa, F.F.-Artigo de periódico
1-Dec-2009Mutação mitocondrial C1494T, deficiência auditiva e uso de antibióticos aminoglicosídeosPostal, Mariana; Palodeto, Bruna; Sartorato, Edi Lúcia; Oliveira, Camila Andréa de-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 of factor VII deficiency and molecular characterization of the F7 gene in Brazilian patientsRodrigues, DN; Siqueira, LH; Galizoni, AM; Arruda, VR; Annichino-Bizzacchi, JM-Artigo de periódico
2010The Novel WT1 Gene Mutation p.H377N Associated to Denys-Drash SyndromeGuaragna, MS; Soardi, FC; Assumpcao, JG; Zambaldi, LDG; Cardinalli, IA; Yunes, JA; de Mello, MP; Brandalise, SR; Aguiar, SD-Artigo de periódico
2013Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and IbCarlin, MP; Scherrer, DZ; de Tommaso, AMA; Bertuzzo, CS; Steiner, CE-Artigo de periódico
2002Molecular heterogeneity of G6PD deficiency in an Amazonian population and description of four new variantsHamel, AR; Cabral, IR; Sales, TSI; Costa, FF; Saad, STO-Artigo de periódico
2012Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011Howard, HJ; Beaudet, A; Lopes, VGDS; Lyne, M; Suthers, G; Van den Akker, P; Wertheim-Tysarowska, K; Willems, P; Macrae, F-Artigo de periódico
2008Novel mutations in the IRF6 gene in Brazilian families with Van der Woude syndromeParanaiba, LMR; Martelli, H; Swerts, MSO; Line, SRP; Coletta, RD-Artigo de periódico
2006N-RAS and K-RAS gene mutations in Brazilian patients with multiple myelomaOrtega, MM; Faria, RMD; Shitara, ES; Assis, AM; Albuquerque, DM; Oliveira, JSR; Noguti, MAE; Faria, JR; Costa, FF; Lima, CSP-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