Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study von Soardi, F C, Coeli, F Borchers, Maciel-Guerra, A T, Guerra-Júnior, G, Mello, M Palandi de

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Complement 4 phenotypes and genotypes in Brazilian patients with classical 21-hydroxylase deficiency von Guerra-Junior, G, Grumach, A. Sevciovic, de Lemos-Marini, S.H. Valente, Kirschfink, M, Neto, A. Condino, de Araujo, M, De Mello, M. Palandi

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Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in theNR5A1 gene: a case study von Soardi, F. C., Coeli, F. Borchers, Maciel-Guerra, A. T., Guerra-Júnior, G., Palandi de Mello, M.

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Morphometry and histology of gonads from 13 children with dysgenetic male pseudohermaphroditism von Ribeiro Scolfaro, M, Aparecida Cardinalli, I, Gabas Stuchi-Perez, E, Palandi de Mello, M, de Godoy Assumpção, J, Matias Baptista, M T, Bustorff Silva, J M, Trevas Maciel-Guerra, A, Guerra, Jr, G

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Molecular mapping of an idic(Yp) chromosome in an Ullrich-Turner patient von Godoy Assumpção, Juliana, Hackel, Christine, Marques-de-Faria, Antonia Paula, Palandi de Mello, Maricilda

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In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperpl... von Barbaro, Michela, Soardi, Fernanda C., Östberg, Linus J., Persson, Bengt, de Mello, Maricilda Palandi, Wedell, Anna, Lajic, Svetlana

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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia von Karlsson, Leif, de Paula Michelatto, Débora, Lusa, Ana Letícia Gori, D'Almeida Mgnani Silva, Camila, Östberg, Linus J., Persson, Bengt, Guerra-Júnior, Gil, Valente de Lemos-Marini, Sofia Helena, Baldazzi, Lilia, Menabó, Soara, Balsamo, Antonio, Greggio, Nella Augusta, Palandi de Mello, Maricilda, Barbaro, Michela, Lajic, Svetlana

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Accuracy of anthropometric measurements in estimating fat mass in individuals with 21-hydroxylase deficiency von Gonçalves, Ezequiel Moreira, M.Sc, Silva, Analiza M., Ph.D, Santos, Diana A., B.Sc, Lemos-Marini, Sofia Helena Valente, Ph.D, de Oliveira Santos, Allan, Ph.D, Mendes-dos-Santos, Carolina Taddeo, M.D, De-Mello, Maricilda Palandi, Ph.D, Guerra-Júnior, Gil, Ph.D

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Inhibition of CYP21A2 Enzyme Activity Caused by Novel Missense Mutations Identified in Brazilian and Scandinavian Patients von 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.

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Functional studies of CYP21A2 mutants complement structural and clinical predictions of disease severity in CAH von Barbaro, Michela, Soardi, Fernanda C., Palandi de Mello, Maricilda, Wedell, Anna, Lajic, Svetlana

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Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency von Martins, Conceição N., Machado, Aline Z., Santos, Mariza G., Domenice, Sorahia, Costa, Elaine M. F., Nishi, Mirian Yumi, Ferraz-de-Souza, Bruno, Jorge, Soraia A. C., Pereira, Carlos A., Soardi, Fernanda C., de Mello, Maricilda Palandi, Maciel-Guerra, Andréa Trevas, Guerra-Junior, Gil, Mendonca, Berenice Bilharinho

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Functional and Structural Consequences of Nine CYP21A2 Mutations Ranging from Very Mild to Severe Effects von de Paula Michelatto, Débora, Karlsson, Leif, Lusa, Ana Letícia Gori, Silva, Camila D’Almeida Mgnani, Östberg, Linus Joakim, Persson, Bengt, Guerra-Júnior, Gil, Lemos-Marini, Sofia Helena Valente de, Barbaro, Michela, de Mello, Maricilda Palandi, Lajic, Svetlana

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NPHS2 Mutations: A Closer Look to Latin American Countries von Guerra-Júnior, Gil, Belangero, Vera Maria Santoro, Maciel-Guerra, Andréa Trevas, Lutaif, Anna Cristina G. B., Guaragna, Mara Sanches, de Mello, Maricilda Palandi

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A Cytogenomic Approach in a Case of Syndromic XY Gonadal Dysgenesis von Simioni, Milena, Lopes Monlleó, Isabella, Costa de Queiroz, Camila M., Fragoso Peixoto Gazzaneo, Ilanna, Lima do Nascimento, Diogo L., Luna de Omena Filho, Reinaldo, Santos da Cruz Piveta, Cristiane, Palandi de Mello, Maricilda, Gil-da-Silva-Lopes, Vera L.

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Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density von OLIVEIRA DE ALMEIDA FREIRE, Patricia, VALENTE DE LEMOS-MARINI, Sofia Helena, TREVAS MACIEL-GUERRA, Andréa, MORENO MORCILLO, André, MATIAS BAPTISTA, Maria Tereza, PALANDI DE MELLO, Maricilda, GUERRA, Gil JR

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Q289P Mutation in FGFR2 Gene Causes Saethre-Chotzen Syndrome: Some Considerations About Familial Heterogeneity von de Freitas, Érika Cristina Lopes Burrone, Nascimento, Sandra Regina Dantas, de Mello, Maricilda Palandi, Gil-da-Silva-Lopes, Vera Lúcia

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Novel 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 phenot... von ASSUMPCAO, J. G, BENEDETTI, C. E, MACIEL-GUERRA, A. T, GUERRA, G. JR, BAPTISTA, M. T. M, SCOLFARO, M. R, DE MELLO, M. P

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Iron-regulated proteins in Phanerochaete chrysosporium and Lentinula edodes: Differential analysis by sodium dodecyl sulfate polyacrylamide gel electrophoresis and two-dimensional... von Hernández-Macedo, Maria L., Ferraz, André, Rodríguez, Jaime, Ottoboni, Laura M. M., De Mello, Maricilda Palandi

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Iron-responsive genes of Phanerochaete chrysosporium isolated by differential display reverse transcription polymerase chain reaction von Assmann, Eliana Maria, Ottoboni, Laura Maria Mariscal, Ferraz, André, Rodríguez, Jaime, De Mello, Maricilda Palandi

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Iron-regulated proteins inPhanerochaete chrysosporium andLentinula edodes: Differential analysis by sodium dodecyl sulfate polyacrylamide gel electrophoresis and two-dimensional po... von Hernández-Macedo, Maria L., Ferraz, André, Rodríguez, Jaime, Ottoboni, Laura M. M., De Mello, Maricilda Palandi

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