Menino ou Menina ? : distúrbios da diferenciação do sexo /

Por Maciel-Guerra, Andréa Trevas, Guerra-Junior, Gil
Publicado em 2010

FSH may be a useful tool to allow early diagnosis of Turner syndrome

Por Carpini, Stela, Carvalho, Annelise Barreto, de Lemos-Marini, Sofia Helena Valente, Guerra-Junior, Gil, Maciel-Guerra, Andréa Trevas
Publicado no BMC Endocr Disord (2018)

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family

Por Guerra-Junior Gil, de Calais Flávia L, Soardi Fernanda C, Maciel-Guerra Andréa T, Petroli Reginaldo J, de Mello Maricilda
Publicado em 2011-06-01

Severe forms of partial androgen insensitivity syndrome due to p.L830F novel mutation in androgen receptor gene in a Brazilian family

Por Petroli, Reginaldo J, Maciel-Guerra, Andréa T, Soardi, Fernanda C, de Calais, Flávia L, Guerra-Junior, Gil, de Mello, Maricilda Palandi
Publicado em 2011

Mutations for Leber hereditary optic neuropathy in patients with alcohol and tobacco optic neuropathy

Por Amaral-Fernandes, Marcela Scabello, Marcondes, Ana Maria, Miranda, Paulo Maurício do Amor Divino, Maciel-Guerra, Andréa Trevas, Sartorato, Edi Lúcia
Publicado em 2011

Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON)

Por Martins, Fábio Tadeu Arrojo, Miranda, Paulo Maurício do Amor Divino, Fernandes, Marcela Scabello Amaral, Maciel-Guerra, Andréa Trevas, Sartorato, Edi Lúcia
Publicado no Mol Vis (2017)

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 no Biomed Res Int (2017)

A study of splicing mutations in disorders of sex development

Por de Calais, Flavia Leme, Smith, Lindsay D., Raponi, Michela, Maciel-Guerra, Andréa Trevas, Guerra-Junior, Gil, de Mello, Maricilda Palandi, Baralle, Diana
Publicado no Sci Rep (2017)

Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males

Por Gabriel Ribeiro de Andrade, Juliana, Marques-de-Faria, Antonia Paula, Fabbri, Helena Campos, de Mello, Maricilda Palandi, Guerra-Júnior, Gil, Maciel-Guerra, Andréa Trevas
Publicado no Int J Endocrinol (2014)

Screening of Y chromosome microdeletions in 46,XY partial gonadal dysgenesis and in patients with a 45,X/46,XY karyotype or its variants

Por dos Santos, Ana Paula, Ribeiro Andrade, Juliana Gabriel, Piveta, Cristiane Santos Cruz, de Paulo, Juliana, Guerra-Junior, Gil, de Mello, Maricilda Palandi, Maciel-Guerra, Andréa Trevas
Publicado em 2013

Genomic Investigation of Balanced Chromosomal Rearrangements in Patients with Abnormal Phenotypes

Por Simioni, Milena, Artiguenave, François, Meyer, Vincent, Sgardioli, Ilária C., Viguetti-Campos, Nilma L., Lopes Monlleó, Isabella, Maciel-Guerra, Andréa T., Steiner, Carlos E., Gil-da-Silva-Lopes, Vera L.
Publicado no Mol Syndromol (2017)

Mutations in NR5A1 Associated with Ovarian Insufficiency

Por Lourenço, Diana, Brauner, Raja, Lin, Lin, De Perdigo, Arantzazu, Weryha, Georges, Muresan, Mihaela, Boudjenah, Radia, Guerra-Junior, Gil, Maciel-Guerra, Andréa T., Achermann, John C., McElreavey, Ken, Bashamboo, Anu
Publicado em 2009

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

Por Fabbri, Helena Campos, de Andrade, Juliana Gabriel Ribeiro, Soardi, Fernanda Caroline, de Calais, Flávia Leme, Petroli, Reginaldo José, Maciel-Guerra, Andréa Trevas, Guerra-Júnior, Gil, de Mello, Maricilda Palandi
Publicado em 2014

Molecular Diagnosis of 5α-Reductase Type II Deficiency in Brazilian Siblings with 46,XY Disorder of Sex Development

Por 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
Publicado em 2011

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 no BMC Med Genet (2015)

Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency

Por Veiga-Junior, Nélio Neves, Medaets, Pedro Augusto Rodrigues, Petroli, Reginaldo José, Calais, Flávia Leme, de Mello, Maricilda Palandi, Castro, Carla Cristina Telles de Sousa, Guaragna-Filho, Guilherme, Sewaybricker, Letícia Espósito, Marques-de-Faria, Antonia Paula, Maciel-Guerra, Andréa Trevas, Guerra-Junior, Gil
Publicado em 2012

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 em 2014

Prevalence and Evolutionary Origins of the del(GJB6-D13S1830) Mutation in the DFNB1 Locus in Hearing-Impaired Subjects: a Multicenter Study

Por del Castillo, Ignacio, Moreno-Pelayo, Miguel A., del Castillo, Francisco J., Brownstein, Zippora, Marlin, Sandrine, Adina, Quint, Cockburn, David J., Pandya, Arti, Siemering, Kirby R., Chamberlin, G. Parker, Ballana, Ester, Wuyts, Wim, Maciel-Guerra, Andréa Trevas, Álvarez, Araceli, Villamar, Manuela, Shohat, Mordechai, Abeliovich, Dvorah, Dahl, Hans-Henrik M., Estivill, Xavier, Gasparini, Paolo, Hutchin, Tim, Nance, Walter E., Sartorato, Edi L., Smith, Richard J. H., Van Camp, Guy, Avraham, Karen B., Petit, Christine, Moreno, Felipe
Publicado em 2003

408 Cases of Genital Ambiguity Followed by Single Multidisciplinary Team during 23 Years: Etiologic Diagnosis and Sex of Rearing

Por De Paula, Georgette Beatriz, Barros, Beatriz Amstalden, Carpini, Stela, Tincani, Bruna Jordan, Mazzola, Tais Nitsch, Sanches Guaragna, Mara, Piveta, Cristiane Santos da Cruz, de Oliveira, Laurione Candido, Andrade, Juliana Gabriel Ribeiro, Guaragna-Filho, Guilherme, Barbieri, Pedro Perez, Ferreira, Nathalia Montibeler, Miranda, Marcio Lopes, Gonçalves, Ezequiel Moreira, Morcillo, Andre Moreno, Viguetti-Campos, Nilma Lucia, Lemos-Marini, Sofia Helena Valente, Silva, Roberto Benedito de Paiva, Marques-de-Faria, Antonia Paula, De Mello, Maricilda Palandi, Maciel-Guerra, Andrea Trevas, Guerra-Junior, Gil
Publicado no Int J Endocrinol (2016)