Search Results - "Guerra, Andréa Trevas Maciel"

Mutation update for the NR5A1 gene involved in DSD and infertility by Fabbri‐Scallet, Helena, Sousa, Lizandra Maia, Maciel‐Guerra, Andréa Trevas, Guerra‐Júnior, Gil, Mello, Maricilda Palandi

“…Nuclear receptor subfamily 5 group A member 1 (NR5A1), also named steroidogenic factor 1, is an essential transcription factor that regulates a number of…”
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SOX3 duplication in a boy with 46,XX ovotesticular disorder of sex development and his 46,XX sister with atypical genitalia: Probable germline mosaicism by 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

“…Ovotesticular disorders of sex development (OT‐DSD) are characterized by ovarian follicles and seminiferous tubules in the same individual, with a wide range…”
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Complete gonadal dysgenesis in clinical practice: the 46,XY karyotype accounts for more than one third of cases by Rocha, Vanessa Brito Campoy, Guerra-Júnior, Gil, M.D., Ph.D, Marques-de-Faria, Antonia Paula, M.D., Ph.D, de Mello, Maricilda Palandi, Ph.D, Maciel-Guerra, Andréa Trevas, M.D., Ph.D

“…Objective To determine the frequency of XY karyotypes among females with complete gonadal dysgenesis (CGD) and to investigate the frequency of both gonadal…”
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Long-Term Follow-Up of Patients with 46,XY Partial Gonadal Dysgenesis Reared as Males by Gabriel Ribeiro de Andrade, Juliana, Marques-de-Faria, Antonia Paula, Fabbri, Helena Campos, de Mello, Maricilda Palandi, Guerra-Júnior, Gil, Maciel-Guerra, Andréa Trevas

“…Background/Aims. Studies on 46,XY partial gonadal dysgenesis (PGD) have focused on molecular, gonadal, genital, and hormone features; little is known about…”
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Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development by Fabbri‐Scallet, Helena, Mello, Maricilda Palandi, Guerra‐Júnior, Gil, Maciel‐Guerra, Andréa Trevas, Andrade, Juliana Gabriel Ribeiro, Queiroz, Camila Maia Costa, Monlleó, Isabella Lopes, Struve, Dagmar, Hiort, Olaf, Werner, Ralf

“…Steroidogenic factor‐1 (SF1), encoded by the NR5A1 gene, is a key regulator of steroidogenesis and reproductive development. NR5A1 mutations described in 46,XY…”
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Promises and pitfalls of whole-exome sequencing exemplified by a nephrotic syndrome family by Guaragna, Mara Sanches, de Brito Lutaif, Anna Cristina Gervásio, de Souza, Marcela Lopes, Maciel-Guerra, Andréa Trevas, Belangero, Vera Maria Santoro, Guerra-Júnior, Gil, de Mello, Maricilda Palandi

“…High-throughput techniques such as whole-exome sequencing (WES) show promise for the identification of candidate genes that underlie Mendelian diseases such as…”
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FSH may be a useful tool to allow early diagnosis of Turner syndrome by Carpini, Stela, Carvalho, Annelise Barreto, de Lemos-Marini, Sofia Helena Valente, Guerra-Junior, Gil, Maciel-Guerra, Andréa Trevas

“…Ultrasensitive assays to measure pre-pubertal gonadotropins levels could help identify patients with Turner syndrome (TS) in mid-childhood, but studies in this…”
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Early development of a gonadal tumor in a patient with mixed gonadal dysgenesis by Cunha, Sarah Crestian, Andrade, Juliana Gabriel Ribeiro de, Angelis, Camila Matsunaga de, Billis, Athanase, Bustorff-Silva, Joaquim Murray, Maciel-Guerra, Andréa Trevas, Miranda, Márcio Lopes, Guerra-Júnior, Gil

“…A gonadal tumor was diagnosed in the first months of life in a patient with genital ambiguity, a 45,X/46,XY karyotype, and mixed gonadal dysgenesis. Gonadal…”
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Social skills in women with Turner Syndrome by SUZIGAN, LÍGIA ZUPPI, DE PAIVA E SILVA, ROBERTO BENEDITO, GUERRA-JÚNIOR, GIL, MARINI, SOFIA HELENA VALENTE LEMOS, MACIEL-GUERRA, ANDRÉA TREVAS

“…Suzigan, L. Z., Silva, R. B. P., Guerra‐Júnior, G., Marini, S. H. V. L. & Maciel‐Guerra, A. T. (2011). Social skills in women with Turner Syndrome…”
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Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency by 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

“…The aim of this study was to search for clinical and laboratorial data in 46,XY patients with ambiguous genitalia (AG) and normal testosterone (T) synthesis…”
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Molecular diagnosis of 5α-reductase type II deficiency in Brazilian siblings with 46,XY disorder of sex development by 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

“…The steroid 5α-reductase type II enzyme catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT), and its deficiency leads to…”
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Complete androgen insensitivity syndrome and risk of gonadal malignancy: systematic review by Barros, Beatriz Amstalden, Oliveira, Letícia Ribeiro de, Surur, Cíntia Regina Crocetti, Barros-Filho, Antonio de Azevedo, Maciel-Guerra, Andrea Trevas, Guerra-Junior, Gil

“…Complete androgen insensitivity syndrome (CAIS) is a rare condition characterized by 46,XY karyotype, female external genitalia, absence of uterus, and testes…”
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An illustrative case of Léri-Weill dyschondrosteosis by Lima, Renata de, Iamada, Cristina Forti, Silva, Luciana Oliveira, Mello, Maricilda Palandi de, Maciel-Guerra, Andréa Trevas

“…We report on a girl presenting Léri-Weill dyschondrosteosis (LWD) due to deletion of the SHOX gene. Her family included individuals with short stature alone or…”
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Ovotesticular disorder of sex development with unusual karyotype: patient report by Paula, Georgette Beatriz, Ribeiro Andrade, Juliana Gabriel, Guaragna-Filho, Guilherme, Sewaybricker, Letícia Esposito, Miranda, Márcio Lopes, Maciel-Guerra, Andréa Trevas, Guerra-Júnior, Gil

“…Ovotesticular disorder of sex development (OT-DSD) (true hermaphroditism) is an anatomopathological diagnosis based on the findings of testicular and ovarian…”
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XX Maleness and XX True Hermaphroditism in SRY-Negative Monozygotic Twins: Additional Evidence for a Common Origin by 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

“…Context: Differentiation of testicular tissue in 46,XX individuals is seen either in XX males, the majority of them with SRY gene, or in individuals, usually…”
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DHX37 and the Implications in Disorders of Sex Development: An Update Review by de Oliveira, Felipe Rodrigues, Guaragna, Mara Sanches, Maciel-Guerra, Andréa Trevas, Barros, Beatriz Amstalden, de Mello, Maricilda Palandi, Guerra-Junior, Gil, Fabbri-Scallet, Helena

“…DHX37 is an autosomal gene responsible for encoding a helicase from the DExD/H-box family that plays an essential role in ribosome biogenesis. Variants in this…”
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Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density by 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

“…Glucocorticoids are essential in the treatment of patients with congenital adrenal hyperplasia (CAH). The opposite actions of glucocorticoids and androgens in…”
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Novel variants in the SOX11 gene: clinical description of seven new patients by 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

“…Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or…”
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Molecular genetics study of deafness in Brazil: 8-year experience by de Oliveira, Camila Andréa, Alexandrino, Fabiana, Christiani, Thalita Vitachi, Steiner, Carlos Eduardo, Cunha, José Luiz Rosemberis, Guerra, Andréa Trevas Maciel, Sartorato, Edi Lúcia

“…Hereditary hearing loss is a complex disorder that involves a large number of genes. In developed countries, 1 in 1,000 children is born with deafness severe…”
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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 by Barros, Beatriz Amstalden, Guaragna, Mara Sanches, Fabbri-Scallet, Helena, Palandi de Mello, Maricilda, Guerra-Júnior, Gil, Maciel-Guerra, Andréa Trevas

“…Ovotesticular disorder of sex development (OT-DSD) is a rare condition defined by concomitance of testicular tissue and ovarian tissue (containing follicles)…”
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