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PreviewIssue DateTitleAuthor(s)AdvisorType
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
2005Molecular Analysis Of Kal-1, Gnrh-r, Nelf And Ebf2 Genes In A Series Of Kallmann Syndrome And Normosmic Hypogonadotropic Hypogonadism Patients.Trarbach, Ericka B; Baptista, Maria T M; Garmes, Heraldo M; Hackel, Christine-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
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
-1-Uns- -1Fetal Rhd Genotyping From Maternal Plasma In A Population With A Highly Diverse Ethnic Background.Machado, Isabela Nelly; Castilho, Lilian; Pellegrino, Jordão; Barini, Ricardo-Artigo de periódico
2006Polymorphisms At Exon 4 Of P53 And The Susceptibility To Herpesvirus Types 6 And 1 Infection In Renal Transplant Recipients.Leite, Janaína L; Manfrinatto, Juliana A; Mazzali, Marilda; Ward, Laura S-Artigo de periódico
2004Lack Of Mutation In Exon 10 Of P53 Gene In Thyroid Tumors.Santarosa, Patricia Lia; Granja, Fabiana; Morari, Elaine Cristina; Leite, Janaína Luisa; Assumpção, Ligia Vera Montalli da; Ward, Laura S-Artigo de periódico
2002Mutations In The P53 Gene In Acute Myeloid Leukemia Patients Correlate With Poor Prognosis.Melo, Mônica B; Ahmad, Nilofer N; Lima, Carmen S P; Pagnano, Katia B B; Bordin, Silvana; Lorand-Metze, Irene; SaAd, Sara T O; Costa, Fernando F-Artigo de periódico
2003No Evidence For Mutations In Exons 1, 8 And 18 Of The Patched Gene In Sporadic Skin Lesions Of Brazilian Patients.Granja, F; Santarosa, P L; Leite, J L A A P; Ward, L S-Artigo de periódico
2002Presence Of The Rhd Pseudogene And The Hybrid Rhd-ce-d(s) Gene In Brazilians With The D-negative Phenotype.Rodrigues, A; Rios, M; Pellegrino, J; Costa, F F; Castilho, L-Artigo de periódico
-1-Uns- -1Mild Hemolysis In A Girl With G6pd Sumaré (class I Variant) Associated With G6pd A-.Saad, Sara T O; Costa, Fernando F-Artigo de periódico
2004Weakened Expression Of 'e' Owing To Concomitant Occurrence Of Cys16 And Val245 (vs Antigen).Rodrigues, A; Rios, M; Costa, F F; Saad, S T O; Pellegrino, J; Castilho, L-Artigo de periódico
2010Novel Deletion Alleles Carrying Cyp21a1p/a2 Chimeric Genes In Brazilian Patients With 21-hydroxylase Deficiency.Coeli, Fernanda B; Soardi, Fernanda C; Bernardi, Renan D; de Araújo, Marcela; Paulino, Luciana C; Lau, Ivy F; Petroli, Reginaldo J; de Lemos-Marini, Sofia H V; Baptista, Maria T M; Guerra-Júnior, Gil; de-Mello, Maricilda P-Artigo de periódico
2008A New Missense Mutation Found In The Flna Gene In A Family With Bilateral Periventricular Nodular Heterotopia (bpnh) Alters The Splicing Process.Tsuneda, Simone S; Torres, Fabio R; Montenegro, Maria A; Guerreiro, Marilisa M; Cendes, Fernando; Lopes-Cendes, Iscia-Artigo de periódico
2007Exclusion Of Known Gene For Enamel Development In Two Brazilian Families With Amelogenesis Imperfecta.Santos, Maria C L G; Hart, P Suzanne; Ramaswami, Mukundhan; Kanno, Cláudia M; Hart, Thomas C; Line, Sergio R P-Artigo de periódico
2005Band 3tambaú: A De Novo Mutation In The Ae1 Gene Associated With Hereditary Spherocytosis. Implications For Anion Exchange And Insertion Into The Red Blood Cell Membrane.Lima, Paulo Roberto Moura; Baratti, Mariana Ozello; Chiattone, Maria Lúcia; Costa, Fernando Ferreira; Saad, Sara Teresinha Olalla-Artigo de periódico
2014Mucopolysaccharidosis Type Ii: Identification Of 30 Novel Mutations Among Latin American Patients.Brusius-Facchin, A C; Schwartz, I V D; Zimmer, C; Ribeiro, M G; Acosta, A X; Horovitz, D; Monlleó, I L; Fontes, M I B; Fett-Conte, A; Sobrinho, R P Oliveira; Duarte, A R; Boy, R; Mabe, P; Ascurra, M; de Michelena, M; Tylee, K L; Besley, G T N; Garreton, M C V; Giugliani, R; Leistner-Segal, S-Artigo de periódico
1995Eleven Novel Mutations In The Factor Viii Gene From Brazilian Hemophilia A Patients.Arruda, V R; Pieneman, W C; Reitsma, P H; Deutz-Terlouw, P P; Annichino-Bizzacchi, J M; Briët, E; Costa, F F-Artigo de periódico
2013Two Distinct Wt1 Mutations Identified In Patients And Relatives With Isolated Nephrotic Proteinuria.Guaragna, Mara S; Lutaif, Anna Cristina G B; Piveta, Cristiane S C; Belangero, Vera M S; Maciel-Guerra, Andréa T; Guerra, Gil; De Mello, Maricilda P-Artigo de periódico