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PreviewIssue DateTitleAuthor(s)AdvisorType
2001Seizure Outcome And Hippocampal Atrophy In Familial Mesial Temporal Lobe Epilepsy.Kobayashi, E; Lopes-Cendes, I; Guerreiro, C A; Sousa, S C; Guerreiro, M M; Cendes, F-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
2010Oral Rehabilitation Of Primary Dentition Affected By Amelogenesis Imperfecta: A Case Report.de Souza-e-Silva, Cíntia Maria; Parisotto, Thaís Manzano; Steiner-Oliveira, Carolina; Gavião, Maria Beatriz Duarte; Nobre-Dos-Santos, Marinês-Artigo de periódico
-1-Uns- -1A 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
2005Familial Temporal Lobe Epilepsy With Auditory Features.Cendes, Fernando; Kobayashi, Eliane; Lopes-Cendes, Iscia-Artigo de periódico
2005Ophthalmic Aspects Of Gapo Syndrome: Case Report And Review.Rim, Priscila Hae Hyun; Marques-de-Faria, Antonia Paula-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
2008Congenital Bilateral Perisylvian Syndrome: Familial Occurrence, Clinical And Psycholinguistic Aspects Correlated With Mri.Brandão-Almeida, I L; Hage, S R V; Oliveira, E P M; Guimarães, C A; Teixeira, K C S; Abramides, D V M; Montenegro, M A; Santos, N F; Cendes, F; Lopes-Cendes, I; Guerreiro, M M-Artigo de periódico
2011Molecular Diagnosis Of 5α-reductase Type Ii Deficiency In Brazilian Siblings With 46,xy Disorder Of Sex Development.Leme de Calais, Flávia Leme; Soardi, Fernanda Caroline; Petroli, Reginaldo José; Lusa, Ana Letícia Gori; de Paiva E Silva, Roberto Benedito; Maciel-Guerra, Andréa Trevas; Guerra-Júnior, Gil; de Mello, Maricilda Palandi-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
2011Characterization Of Alpha Thalassemic Genotypes By Multiplex Ligation-dependent Probe Amplification In The Brazilian Population.Suemasu, C N; Kimura, E M; Oliveira, D M; Bezerra, M A C; Araújo, A S; Costa, F F; Sonati, M F-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 Mutation.Arnaldi, L A; Pretti, F A; Zampieri, J P; Ramos, C F; Arruda, V R; Annichino-Bizzacchi, J M-Artigo de periódico
2011Novel Human Crygd Rare Variant In A Brazilian Family With Congenital Cataract.de Figueirêdo, Eugênio Santana; Giordano, Gabriel Gorgone; Tavares, Anderson; da Silva, Márcio José; de Vasconcellos, José Paulo Cabral; Arieta, Carlos Eduardo Leite; de Melo, Mônica Barbosa-Artigo de periódico
2002Beta-spectrin São Pauloii, A Novel Frameshift Mutation Of The Beta-spectrin Gene Associated With Hereditary Spherocytosis And Instability Of The Mutant Mrna.Bassères, D S; Tavares, A C; Costa, F F; Saad, S T O-Artigo de periódico
2002Novel Mutations Affecting Sry Dna-binding Activity: The Hmg Box N65h Associated With 46,xy Pure Gonadal Dysgenesis And The Familial Non-hmg Box R30i Associated With Variable Phenotypes.Assumpção, J G; Benedetti, C E; Maciel-Guerra, A T; Guerra, G; Baptista, M T M; Scolfaro, M R; de Mello, M P-Artigo de periódico
2011Mutation In Ift80 In A Fetus With The Phenotype Of Verma-naumoff Provides Molecular Evidence For Jeune-verma-naumoff Dysplasia Spectrum.Cavalcanti, Denise P; Huber, Celine; Sang, Kim-Hanh Le Quan; Baujat, Geneviève; Collins, Felicity; Delezoide, Anne-Lise; Dagoneau, Nathalie; Le Merrer, Martine; Martinovic, Jelena; Mello, Marcos Fernando S; Vekemans, Michel; Munnich, Arnold; Cormier-Daire, Valerie-Artigo de periódico
-1-Uns- -1[autosomal Chronic Granulomatous Disease: Case Report And Mutation Analysis Of Two Brazilian Siblings].Prando-Andrade, Carolina; Agudelo-Florez, Piedad; Lopez, Juan A; Paiva, Maria Aparecida de Souza; Costa-Carvalho, Beatriz T; Condino-Neto, Antônio-Artigo de periódico
2010Long-term Follow-up Of An 8-year-old Boy With Insulinoma As The First Manifestation Of A Familial Form Of Multiple Endocrine Neoplasia Type 1.Fabbri, Helena Campos; Mello, Maricilda Palandi de; Soardi, Fernanda Caroline; Esquiaveto-Aun, Adriana Mangue; Oliveira, Daniel Minutti de; Denardi, Fernanda Canova; Moura-Neto, Arnaldo; Garmes, Heraldo Mendes; Baptista, Maria Tereza Matias; Matos, Patrícia Sabino de; Lemos-Marini, Sofia Helena Valente de; D'Souza-Li, Lilia Freire Rodrigues; Guerra-Júnior, Gil-Artigo de periódico
2010Phenotypic Variability In A Family With X-linked Adrenoleukodystrophy Caused By The P.trp132ter Mutation.Soardi, Fernanda Caroline; Esquiaveto-Aun, Adriana Mangue; Guerra-Júnior, Gil; Lemos-Marini, Sofia Helena Valente de; Mello, Maricilda Palandi de-Artigo de periódico
2010Six New Cases Confirm The Clinical Molecular Profile Of Complete Combined 17α-hydroxylase/ 17,20-lyase Deficiency In Brazil.Belgini, Daiane Rodrigues Barbosa; Mello, Maricilda Palandi de; Baptista, Maria Tereza Matias; Oliveira, Daniel Minutti de; Denardi, Fernanda Canova; Garmes, Heraldo Mendes; Grassiotto, Oswaldo da Rocha; Benetti Pinto, Cristina Laguna; Marques-de-Faria, Antonia Paula; Maciel-Guerra, Andréa Trevas; Guerra-Júnior, Gil-Artigo de periódico