NPHS2 Mutations: A Closer Look to Latin American Countries

por Guaragna, Mara Sanches, Lutaif, Anna Cristina G. B., Maciel-Guerra, Andréa T., Belangero, Vera M. S., Guerra-Júnior, Gil, De Mello, Maricilda P.
Publicado 2017

NPHS2 mutations account for only 15 % of nephrotic syndrome cases

por Guaragna, Mara Sanches, Lutaif, Anna Cristina GB, Piveta, Cristiane SC, Souza, Marcela L., de Souza, Suéllen R., Henriques, Taciane B., Maciel-Guerra, Andréa T., Belangero, Vera MS, Guerra-Junior, Gil, De Mello, Maricilda P.
Publicado 2015

MON-056 Rare X Chromosome Pericentric Inversion Associated with Ovotesticular Disorder of Sex Development

por Guerra-Junior, Gil, Santos, Ana Paula, Oliveira, Flavia M, Vieira, Tarsis A P, Campos, Nilma L V, Miranda, Marcio L, Guaragna, Mara S, Fabbri-Scallet, Helena, de Mello, Maricilda P, Maciel-Guerra, Andrea Trevas
Publicado 2020

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency

por 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 HV, Baptista, Maria TM, Guerra-Júnior, Gil, de-Mello, Maricilda P
Publicado 2010

Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency

por Santos, Mariza G., Machado, Aline Z., Martins, Conceição N., Domenice, Sorahia, Costa, Elaine M. F., Nishi, Mirian Y., Ferraz-de-Souza, Bruno, Jorge, Soraia A. C., Pereira, Carlos A., Soardi, Fernanda C., de Mello, Maricilda P., Maciel-Guerra, Andrea T., Guerra-Junior, Gil, Mendonca, Berenice B.
Publicado 2014

A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication

por Francese-Santos, Ana Paula, Meinel, Jakob A., Piveta, Cristiane S. C., Andrade, Juliana G. R., Barros, Beatriz A., Fabbri-Scallet, Helena, Gil-da-Silva-Lopes, Vera Lúcia, Guerra-Junior, Gil, Künstner, Axel, Busch, Hauke, Hiort, Olaf, de Mello, Maricilda P., Werner, Ralf, Maciel-Guerra, Andréa T.
Publicado 2022