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PreviewIssue DateTitleAuthor(s)AdvisorType
2016Reduction Of Cellular Expression Levels Is A Common Feature Of Functionally Affected Pendrin (slc26a4) Protein Variantsde Moraes; Vanessa C. S.; Bernardinelli; Emanuele; Zocal; Nathalia; Fernandez; Jhonathan A.; Nofziger; Charity; Castilho; Arthur M.; Sartorato; Edi L.; Paulmichl; Markus; Dossena; Silvia-Artigo
2013Cystic fibrosis transmembrane conductance regulator mutations at a referral center for cystic fibrosisCoutinho, CADC; Marson, FAD; Ribeiro, AF; Ribeiro, JD; Bertuzzo, CS-Artigo de periódico
1-Aug-2002ß-Spectrin São PauloII, a novel frameshift mutation of the ß-spectrin gene associated with hereditary spherocytosis and instability of the mutant mRNABassères, D.S.; Tavares, A.C.; Costa, F.F.; Saad, S.T.O.-Artigo de periódico
1-Apr-2003No evidence for mutations in exons 1, 8 and 18 of the patched gene in sporadic skin lesions of Brazilian patientsGranja, F.; Santarosa, P.L.; Leite, J.L.A.A.P.; Ward, L.S.-Artigo de periódico
1-Oct-2003Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasiaTorres, N.; Mello, M.P.; Germano, C.M.R.; Elias, L.L.K.; Moreira, A.C.; Castro, M.-Artigo de periódico
2013Screening for F508del as a first step in the molecular diagnosis of cystic fibrosisMarson, FAD; Bertuzzo, CS; Ribeiro, MAGD; Ribeiro, AF; Ribeiro, JD-Artigo de periódico
2016Low Ten-eleven-translocation 2 (tet2) Transcript Level Is Independent Of Tet2 Mutation In Patients With Myeloid NeoplasmsScopim-Ribeiro; Renata; Machado-Neto; Joao Agostinho; Campos; Paula de Melo; Niemann; Fernanda Soares; Lorand-Metze; Irene; Costa; Fernando Ferreira; Olalla Saad; Sara Teresinha; Traina; Fabiola-Artigo
2016Waardenburg Syndrome Type I: Dental Phenotypes And Genetic Analysis Of An Extended FamilySolia-Nasser; Luciano; de Aquino; Sibele-Nascimento; Paranaiba; Livia-Maris-R.; Gomes; Andreia; dos-Santos-Neto; Pedro; Coletta; Ricardo-D.; Cardoso; Aline-Francoise; Frota; Ana-Claudia; Martelli-Junior; Hercilio-Artigo
2016Low Ten-eleven-translocation 2 (tet2) Transcript Level Is Independent Of Tet2 Mutation In Patients With Myeloid NeoplasmsScopim-Ribeiro; R; Machado-Neto; JA; Campos; PD; Niemann; FS; Lorand-Metze; I; Costa; FF; Saad; STO; Traina; F-Artigo de Periódico
2016Adenocarcinoma Of The Right Colon In A Patient With Bloom SyndromeReal Martinez; Carlos Augusto; Pinheiro; Lilian Vital; Rossi; Debora Helena; Camargo; Michel Gardere; Setsuko Ayrizono; Maria de Lourdes; Leal; Raquel Franco; Rodrigues Coy; Claudio Saddy-Artigo
2005Differentiation Of C2c12 Myoblasts Is Critically Regulated By Fak Signaling.Clemente, Carolina F M Z; Corat, Marcus A F; Saad, Sara T O; Franchini, Kleber G-Artigo de periódico
2006Q289p Mutation In Fgfr2 Gene Causes Saethre-chotzen Syndrome: Some Considerations About Familial Heterogeneity.Freitas, Erika Cristina Lopes Burrone de; Nascimento, Sandra Regina Dantas; de Mello, Maricilda Palandi; Gil-da-Silva-Lopes, Vera Lúcia-Artigo de periódico
2004Clinical Findings In Four Brazilian Families Affected By Saethre-chotzen Syndrome Without Twist Mutations.Nascimento, Sandra R D; de Mello, Maricilda P; Batista, Juliano C; Balarin, Marly A S; Lopes, Vera L Gil da Silva-Artigo de periódico
2015Lack Of Association Between The Prothrombin Rs1799963 Polymorphism And Juvenile Myoclonic EpilepsyLopes Born; Joao Paulo; dos Santos; Bruna Priscila; Secolin; Rodrigo; Gameleira; Fernando Tenorio; de Andrade; Tiago Gomes; Herculano Machado; Luciana Claudia; Goes Gitai; Livia Leite; Goes Gitai; Daniel Leite-Artigo de periódico
2015Demographic, Clinical, And Laboratory Parameters Of Cystic Fibrosis During The Last Two Decades: A Comparative Analysisde Lima Marson; Fernando Augusto; Russo Hortencio; Tais Daiene; Alberto Aguiar; Katia Cristina; Ribeiro; Jose Dirceu-Artigo de periódico
2015Clinical And Molecular Data From 61 Brazilian Cases Of Congenital Hyperinsulinemic HypoglycemiaLiberatore; Raphael Del Roio; Jr.; Ramos; Priscila Manzini; Guerra; Gil; Jr.; Della Manna; Thais; Silva; Ivani Novato; Martinelli Junior; Carlos Eduardo-Artigo de periódico
2016Association Of Tnf Polymorphisms With Jak2 (v617f) Myeloproliferative Neoplasms In Brazilian Patients.Macedo, Luciana Conci; de Cesare Quintero, Fernanda; Pagliari-E-Silva, Sara; Pagnano, Katia Borgia Barbosa; Rodrigues, Camila; de Alencar, Josiane Bazzo; Sell, Ana Maria; Visentainer, Jeane Eliete Laguila-Artigo de periódico
-Preimplantation Genetic Diagnosis For Cystic Fibrosis: A Case Report.Biazotti, Maria Cristina Santoro; Pinto Junior, Walter; Albuquerque, Maria Cecília Romano Maciel de; Fujihara, Litsuko Shimabukuro; Suganuma, Cláudia Haru; Reigota, Renata Bednar; Bertuzzo, Carmen Sílvia-Artigo de periódico
2015Saccharomyces Cerevisiae Transcriptional Reprograming Due To Bacterial Contamination During Industrial Scale Bioethanol Production.Carvalho-Netto, Osmar V; Carazzolle, Marcelo F; Mofatto, Luciana S; Teixeira, Paulo J P L; Noronha, Melline F; Calderón, Luige A L; Mieczkowski, Piotr A; Argueso, Juan Lucas; Pereira, Gonçalo A G-Artigo de periódico
2015Egfr, P53, Idh-1 And Mdm2 Immunohistochemical Analysis In Glioblastoma: Therapeutic And Prognostic Correlation.Montgomery, Richard Murdoch; Queiroz, Luciano de Souza; Rogerio, Fabio-Artigo de periódico