Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency
França, Monica M, Funari, Mariana F A, Lerario, Antonio M, Santos, Mariza G, Nishi, Mirian Y, Domenice, Sorahia, Moraes, Daniela R, Costalonga, Everlayny F, Maciel, Gustavo A R, Maciel-Guerra, Andrea T, Guerra-Junior, Gil, Mendonca, Berenice B
Published in PloS one (23.10.2020)
Published in PloS one (23.10.2020)
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Growth, puberty and testicular function in boys born small for gestational age with a nonspecific disorder of sex development
Tack, Lloyd J. W., van der Straaten, Saskia, Riedl, Stefan, Springer, Alexander, Holterhus, Paul‐Martin, Hornig, Nadine C., Kolesinska, Zofia, Niedziela, Marek, Baronio, Federico, Balsamo, Antonio, Hannema, Sabine E., Nordenström, Anna, Poyrazoglu, Sukran, Darendeliler, Fatma F., Grinspon, Romina, Rey, Rodolfo, Aljuraibah, Fahad, Bryce, Jillian, Ahmed, Faisal, Tadokoro‐Cuccaro, Rieko, Hughes, Ieuan, Guaragna‐Filho, Guilherme, Maciel‐Guerra, Andrea T., Guerra‐Junior, Gil, Cools, Martine
Published in Clinical endocrinology (Oxford) (01.02.2022)
Published in Clinical endocrinology (Oxford) (01.02.2022)
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Why pediatricians need to know the disorders of sex development: experience of 709 cases in a specialized service
Beck, Mayra de Souza El, Germano, Carlos W., Barros, Beatriz A., Andrade, Juliana G.R., Guaragna-Filho, Guilherme, Paula, Georgette B., Miranda, Márcio L., Guaragna, Mara S., Fabbri-Scallet, Helena, Mazzola, Tais N., Viguetti-Campos, Nilma L., Vieira, Társis A.P., Lemos-Marini, Sofia H.V., Marques-de-Faria, Antonia P., Silva, Roberto B. Paiva e, Mello, Maricilda P., Maciel-Guerra, Andréa T., Guerra-Júnior, Gil
Published in Jornal de pediatria (01.09.2020)
Published in Jornal de pediatria (01.09.2020)
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Homozygous Inactivating Mutation in NANOS3 in Two Sisters with Primary Ovarian Insufficiency
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
Published in BioMed research international (01.01.2014)
Published in BioMed research international (01.01.2014)
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Ovotesticular disorder of sex development with unusual karyotype: patient report
Paula, Georgette Beatriz, Ribeiro Andrade, Juliana Gabriel, Guaragna-Filho, Guilherme, Sewaybricker, Letícia Esposito, Miranda, Márcio Lopes, Maciel-Guerra, Andréa Trevas, Guerra-Júnior, Gil
Published in Journal of Pediatric Endocrinology & Metabolism (01.05.2015)
Published in Journal of Pediatric Endocrinology & Metabolism (01.05.2015)
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Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review
Barros, Beatriz Amstalden, Oliveira, Letícia Ribeiro de, Surur, Cíntia Regina Crocetti, Barros-Filho, Antonio de Azevedo, Maciel-Guerra, Andrea Trevas, Guerra-Junior, Gil
Published in Annals of pediatric endocrinology & metabolism (01.03.2021)
Published in Annals of pediatric endocrinology & metabolism (01.03.2021)
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XX Maleness and XX True Hermaphroditism in SRY-Negative Monozygotic Twins: Additional Evidence for a Common Origin
Maciel-Guerra, Andréa Trevas, de Mello, Maricilda Palandi, Coeli, Fernanda Boechers, Ribeiro, Marcelo Lima, Miranda, Márcio Lopes, Marques-de-Faria, Antonia Paula, Baptista, Maria Tereza Matias, Moraes, Suzana Guimarães, Guerra-Júnior, Gil
Published in The journal of clinical endocrinology and metabolism (01.02.2008)
Published in The journal of clinical endocrinology and metabolism (01.02.2008)
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Mutation update for the NR5A1 gene involved in DSD and infertility
Fabbri‐Scallet, Helena, Sousa, Lizandra Maia, Maciel‐Guerra, Andréa Trevas, Guerra‐Júnior, Gil, Mello, Maricilda Palandi
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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DHX37 and the Implications in Disorders of Sex Development: An Update Review
de Oliveira, Felipe Rodrigues, Guaragna, Mara Sanches, Maciel-Guerra, Andréa Trevas, Barros, Beatriz Amstalden, de Mello, Maricilda Palandi, Guerra-Junior, Gil, Fabbri-Scallet, Helena
Published in Hormone research in paediatrics (2024)
Published in Hormone research in paediatrics (2024)
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Journal Article
Mutations in NR5A1 Associated with Ovarian Insufficiency
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
Published in The New England journal of medicine (19.03.2009)
Published in The New England journal of medicine (19.03.2009)
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Novel variants in the SOX11 gene: clinical description of seven new patients
Schincariol-Manhe, Beatriz, Campagnolo, Érica, Spineli-Silva, Samira, de Leeuw, Nicole, Correia-Costa, Gabriela Roldão, Pessoa, André, de Souza, Carolina Fischinger Moura, Stevens, Cathy, Javaher, Poupak, Scallet, Helena Fabbri, Mohr, Julia, Biskup, Saskia, Herkert, Johanna C, Pfundt, Rolph, Mehta, Lakshmi, Rekab, Aisha, Elloumi, Houda Zghal, Sanyoura, May, Maciel-Guerra, Andréa Trevas, Gil-da-Silva-Lopes, Vera Lúcia, Dos Santos, Ana Mondadori, Vieira, Társis Paiva
Published in European journal of human genetics : EJHG (27.09.2024)
Published in European journal of human genetics : EJHG (27.09.2024)
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Patients with genital ambiguity referred without a sex definition: the relationship between clinical picture and defined sex of rearing
Santos, Henrique C., Barros, Beatriz A., El-Beck, Mayra S., Miranda, Marcio L., Guaragna, Mara S., Fabbri-Scallet, Helena, Mazzola, Taís N., Vieira, Tarsis P., Mello, Maricilda P., Marques-de-Faria, Antonia P., Maciel-Guerra, Andrea T., Guerra-Junior, Gil
Published in Jornal de pediatria (01.11.2024)
Published in Jornal de pediatria (01.11.2024)
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Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review
Barros, Beatriz Amstalden, Guaragna, Mara Sanches, Fabbri-Scallet, Helena, Palandi de Mello, Maricilda, Guerra-Júnior, Gil, Maciel-Guerra, Andréa Trevas
Published in Sexual development (01.02.2023)
Published in Sexual development (01.02.2023)
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Bilateral Wilms’ tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region
Guaragna, Mara Sanches, Ledesma, Felipe Lourenço, Manzano, Victoria Zavanelli, Maciel-Guerra, Andréa Trevas, Guerra-Júnior, Gil, Silva, Marcelo Milone, Luiz de Brito, Pedro, Palandi de Mello, Maricilda
Published in Journal of Pediatric Endocrinology & Metabolism (27.06.2022)
Published in Journal of Pediatric Endocrinology & Metabolism (27.06.2022)
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Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Fabbri-Scallet, Helena, Werner, Ralf, Guaragna, Mara S., de Andrade, Juliana G.R., Maciel-Guerra, Andrea T., Hornig, Nadine C., Hiort, Olaf, Guerra-Júnior, Gil, de Mello, Maricilda P.
Published in Sexual development (01.02.2023)
Published in Sexual development (01.02.2023)
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A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication
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
Published in International journal of molecular sciences (28.12.2022)
Published in International journal of molecular sciences (28.12.2022)
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Journal Article
SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism
Oliveira, Flávia Marcorin, Barros, Beatriz Amstalden, Santos, Ana Paula, Campos, Nilma Lúcia Viguetti, Mazzola, Taís Nitsch, Filho, Paulo Latuf, Andrade, Liliana Aparecida Lucci De Angelo, Guaragna, Mara Sanches, Mello, Maricilda Palandi, Guerra‐Junior, Gil, Vieira, Társis Antonio Paiva, Maciel‐Guerra, Andréa Trevas
Published in American journal of medical genetics. Part A (01.02.2023)
Published in American journal of medical genetics. Part A (01.02.2023)
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Suggested Cutoff Point for Testosterone by Liquid Chromatography with Tandem Mass Spectrometry (LC-MS/MS) after Stimulation with Recombinant Human Chorionic Gonadotropin
de Oliveira, Leticia R., Longui, Carlos A., Guaragna-Filho, Guilherme, da Costa, José L., Lanaro, Rafael, Chiamolera, Maria I., de Mello, Maricilda P., Morcillo, André M., Maciel-Guerra, Andrea T., Guerra-Junior, Gil
Published in Sexual development (01.02.2023)
Published in Sexual development (01.02.2023)
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Clinical Findings and Follow-Up of 46,XY and 45,X/46,XY Testicular Dysgenesis
Andrade, Juliana G.R., Fabbri-Scallet, Helena, dos Santos, Ana P., Cools, Martine, Werner, Ralf, Hiort, Olaf, de Mello, Maricilda P., Guerra-Júnior, Gil, Maciel-Guerra, Andrea T.
Published in Sexual development (01.05.2020)
Published in Sexual development (01.05.2020)
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