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PreviewIssue DateTitleAuthor(s)AdvisorType
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
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
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
-A Naturally Occurring Deletion In The Sry Promoter Region Affecting The Sp1 Binding Site Is Associated With Sex Reversal.Assumpção, J G; Ferraz, L F Caldas; Benedetti, C E; Maciel-Guerra, A T; Guerra, G; Marques-de-Faria, A P; Baptista, M T Matias; de Mello, M P-Artigo de periódico
2007Fraser And Ablepharon Macrostomia Phenotypes: Concurrence In One Family And Association With Mutated Fras1.Cavalcanti, Denise Pontes; Matejas, Verena; Luquetti, Daniela; Mello, Marcos Fernando; Zenker, Martin-Artigo de periódico
2013Molecular Analysis Of Slc26a4 Gene In Patients With Nonsyndromic Hearing Loss And Eva: Identification Of Two Novel Mutations In Brazilian Patients.de Moraes, Vanessa Cristine Sousa; dos Santos, Nathalia Zocal Pereira; Ramos, Priscila Zonzini; Svidnicki, Maria Carolina Costa Melo; Castilho, Arthur Menino; Sartorato, Edi Lúcia-Artigo de periódico
2011Acetylcholinesterase Cdna Sequencing And Identification Of Mutations Associated With Organophosphate Resistance In Cochliomyia Hominivorax (diptera: Calliphoridae).da Silva, Norma Machado; de Carvalho, Renato Assis; de Azeredo-Espin, Ana Maria Lima-Artigo de periódico
2010Human Hsp70/hsp90 Organizing Protein (hop) D456g Is A Mixture Of Monomeric And Dimeric Species.Gonçalves, Danieli C; Gava, Lisandra M; Ramos, Carlos H I-Artigo de periódico
2011Mutations For Leber Hereditary Optic Neuropathy In Patients With Alcohol And Tobacco Optic Neuropathy.Amaral-Fernandes, Marcela Scabello; Marcondes, Ana Maria; Miranda, Paulo Maurício do Amor Divino; Maciel-Guerra, Andréa Trevas; Sartorato, Edi Lúcia-Artigo de periódico
2005Pregnancy-associated Venous Thromboembolism In Combined Heterozygous Factor V Leiden And Prothrombin G20210a Mutations.Couto, Egle; Nomura, Marcelo Luís; Barini, Ricardo; Pinto e Silva, João Luiz-Artigo de periódico
2008Absence Of Mutations In Pax6 Gene In Three Cases Of Morning Glory Syndrome Associated With Isolated Growth Hormone Deficiency.Guerra-Junior, Gil; Spinola-Castro, Angela Maria; Siviero-Miachon, Adriana A; Nogueira, Roberto Gomes; Lemos-Marini, Sofia Helena V; D'Souza-Li, Lilia Freire Rodrigues; Silva, Priscila Cristina da; França, Emerson Salvador S; Soardi, Fernanda Caroline; Mello, Maricilda Palandi de-Artigo de periódico
2008Heterozygosis For Cyp21a2 Mutation Considered As 21-hydroxylase Deficiency In Neonatal Screening.Soardi, Fernanda Caroline; Lemos-Marini, Sofia Helena V; Coeli, Fernanda Borchers; Maturana, Víctor Gonçalves; Silva, Márcia Duarte Barbosa da; Bernardi, Renan Darin; Justo, Giselle Zenker; de-Mello, Maricilda Palandi-Artigo de periódico
2005Rhnull Syndrome: Identification Of A Novel Mutation In Rhce.Rosa, K A; Reid, M E; Lomas-Francis, C; Powell, V I; Costa, F F; Stinghen, S T; Watanabe, A M; Carboni, E K; Baldon, J P; Jucksch, M M F; Castilho, L-Artigo de periódico
2007Three Novel Mutations In The Activin Receptor-like Kinase 1 (alk-1) Gene In Hereditary Hemorrhagic Telangiectasia Type 2 In Brazilian Patients.Assis, A M; Costa, F F; Arruda, V R; Annichino-Bizzacchi, J M; Bertuzzo, C S-Artigo de periódico
2005Familial Temporal Lobe Epilepsy With Auditory Features.Cendes, Fernando; Kobayashi, Eliane; Lopes-Cendes, Iscia-Artigo de periódico
2005Mutations In Sry And Wt1 Genes Required For Gonadal Development Are Not Responsible For Xy Partial Gonadal Dysgenesis.Tagliarini, E B; Assumpção, J G; Scolfaro, M R; Mello, M P de; Maciel-Guerra, A T; Guerra Júnior, G; Hackel, C-Artigo de periódico
2011Multifunctional Role Of Steroidogenic Factor 1 And Disorders Of Sex Development.Mello, Maricilda Palandi de; França, Emerson Salvador de Souza; Fabbri, Helena Campos; Maciel-Guerra, Andréa Trevas; Guerra-Júnior, Gil-Artigo de periódico
-[association Between Alpha 1 Antitrypsin Deficiency And Cystic Fibrosis Severity].de Faria, Elisangela Jacinto; de Faria, Isabel Cristina Jacinto; Alvarez, Alfonso E; Ribeiro, José D; Ribeiro, Antonio F; Bertuzzo, Carmen S-Artigo de periódico
2004Multi-minicore Disease Revisited.Nucci, Anamarli; Queiroz, Luciano S; Zambelli, Helder J L; Martins Filho, José-Artigo de periódico