Browsing by Subject Mutation, Missense

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

or enter first few letters:  
Showing results 1 to 18 of 18
PreviewIssue DateTitleAuthor(s)AdvisorType
2014Key Issues In Inhibitor Management In Patients With Haemophilia.Gomez, Keith; Klamroth, Robert; Mahlangu, Johnny; Mancuso, Maria E; Mingot, María E; Ozelo, Margareth Castro-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
2015Six Additional Cases Of Sedc Due To The Same And Recurrent R989c Mutation In The Col2a1 Gene--the Clinical And Radiological Follow-up.Silveira, Karina C; Bonadia, Luciana C; Superti-Furga, Andrea; Bertola, Débora R; Jorge, Alexander A L; Cavalcanti, Denise P-Artigo de periódico
2015Nphs2 Mutations Account For Only 15% Of Nephrotic Syndrome Cases.Guaragna, Mara Sanches; Lutaif, Anna Cristina G B; Piveta, Cristiane S C; Souza, Marcela L; de Souza, Suéllen R; Henriques, Taciane B; Maciel-Guerra, Andréa T; Belangero, Vera M S; Guerra-Junior, Gil; De Mello, Maricilda P-Artigo de periódico
2013Novel Alpl Genetic Alteration Associated With An Odontohypophosphatasia Phenotype.Martins, Luciane; Rodrigues, Thaisângela L; Ribeiro, Mariana Martins; Saito, Miki Taketomi; Giorgetti, Ana Paula Oliveira; Casati, Márcio Z; Sallum, Enilson A; Foster, Brian L; Somerman, Martha J; Nociti, Francisco H-Artigo de periódico
2012Flavonoid Interactions With Human Transthyretin: Combined Structural And Thermodynamic Analysis.Trivella, Daniela B B; dos Reis, Caio V; Lima, Luís Maurício T R; Foguel, Débora; Polikarpov, Igor-Artigo de periódico
2000Absence Of Mutations In The Homeodomain Of The Msx1 Gene In Patients With Hypodontia.Scarel, R M; Trevilatto, P C; Di Hipólito, O; Camargo, L E; Line, S R-Artigo de periódico
2003Prevalence Of Factor Vii Deficiency And Molecular Characterization Of The F7 Gene In Brazilian Patients.Rodrigues, Dalva N; Siqueira, Lucia H; Galizoni, Andréa M; Arruda, Valder R; Annichino-Bizzacchi, Joyce M-Artigo de periódico
2001Detection Of Somatic Mutations Of The Pig-a Gene In Brazilian Patients With Paroxysmal Nocturnal Hemoglobinuria.Franco De Carvalho, R; Arruda, V R; Saad, S T; Costa, F F-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
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
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
2010Structural Aspects Of The P.p222q Homozygous Mutation Of Hsd3b2 Gene In A Patient With Congenital Adrenal Hyperplasia.Lusa, Letícia Gori; Lemos-Marini, Sofia Helena Valente de; Soardi, Fernanda Caroline; Ferraz, Lucio Fabio Caldas; Guerra-Júnior, Gil; Mello, Maricilda Palandi de-Artigo de periódico
2008Inhibition Of Cyp21a2 Enzyme Activity Caused By Novel Missense Mutations Identified In Brazilian And Scandinavian Patients.Soardi, F C; Barbaro, M; Lau, I F; Lemos-Marini, S H V; Baptista, M T M; Guerra-Junior, G; Wedell, A; Lajic, S; de Mello, M 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
2008Apparent Mineralocorticoid Excess Syndrome In A Brazilian Boy Caused By The Homozygous Missense Mutation P.r186c In The Hsd11b2 Gene.Coeli, Fernanda Borchers; Ferraz, Lúcio Fábio Caldas; Lemos-Marini, Sofia H V de; Rigatto, Sumara Zuanazi Pinto; Belangero, Vera Maria Santoro; de-Mello, Maricilda Palandi-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
2004Mutation Screening In A Cohort Of Patients With Lissencephaly And Subcortical Band Heterotopia.Torres, F R; Montenegro, M A; Marques-De-Faria, A P; Guerreiro, M M; Cendes, F; Lopes-Cendes, I-Artigo de periódico