Search Results - "Guerra, Gil"

New genetic findings in a large cohort of congenital hypogonadotropic hypogonadism by Amato, Lorena Guimaraes Lima, Montenegro, Luciana Ribeiro, Lerario, Antonio Marcondes, Jorge, Alexander Augusto Lima, Guerra Junior, Gil, Schnoll, Caroline, Renck, Alessandra Covallero, Trarbach, Ericka Barbosa, Costa, Elaine Maria Frade, Mendonca, Berenice Bilharinho, Latronico, Ana Claudia, Silveira, Leticia Ferreira Gontijo

“…Context Congenital hypogonadotropic hypogonadism (CHH) is a rare condition caused by GnRH deficiency. Several genes have been associated with the pathogenesis…”
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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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Anthropometry and physical appearance can be associated with quality of life in Brazilian women with Turner syndrome by Reis, Carolina Trombeta, Macedo, Marina Cruvinel, Morcillo, André Moreno, Guerra, Junior, Gil, de Lemos-Marini, Sofia Helena Valente

“…This study aimed to analyze if anthropometric factors and physical appearance are associated to QoL in Turner syndrome (TS). Observational, analytical, and…”
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Normal ambulatory blood pressure in young adults with 21-hydroxylase enzyme deficiency undergoing glucocorticoid replacement therapy by Borges, Juliano Henrique, Camargo, Daniela Albiero, Sewaybricker, Leticia Esposito, Santoro, Renata Isa, de Oliveira, Daniel Minutti, de Lemos-Marini, Sofia Helena Valente, Geloneze, Bruno, Guerra, Júnior, Gil, Gonçalves, Ezequiel Moreira

“…Herein, we compared ambulatory blood pressure (ABP) between young adults with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase enzyme (21OHase)…”
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Cardiovascular dysfunction risk in young adults with congenital adrenal hyperplasia caused by 21-hydroxylase enzyme deficiency by Borges, Juliano Henrique, Santoro, Renata Isa, de Oliveira, Daniel Minutti, de Lemos-Marini, Sofia Helena Valente, Geloneze, Bruno, Guerra-Júnior, Gil, Gonçalves, Ezequiel Moreira

“…The association of congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase enzyme (21OHase) deficiency, duration of treatment and dosage with…”
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Physical training over 6 months is associated with improved changes in phase angle, body composition, and blood glucose in healthy young males by Langer, Raquel D., Silva, Analiza M., Borges, Juliano H., Cirolini, Vagner X., Páscoa, Mauro A., Guerra‐Júnior, Gil, Gonçalves, Ezequiel M.

“…Objectives The aim of this study was to evaluate the association between phase angle, body composition, and blood glucose changes in healthy young males after…”
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Insights from a Wolfram syndrome cohort: clinical and molecular findings from a specialized diabetes reference center by Lopes, Carolina Paniago, Gonçalves, Gentil Ferreira, Paulino, Maria Fernanda Vanti Macedo, Esquiaveto-Aun, Adriana Mangue, de Mello, Maricilda Palandi, Pavin, Elizabeth João, Breder, Ikaro Soares Santos, Pu, Mariana Zorron Mei Hsia, de Lemos-Marini, Sofia Helena Valente, Guerra, Gil

“…ABSTRACT Objective: Considering the rarity and clinical and molecular diversity of Wolfram syndrome (WS), the objective of this study was to identify patients…”
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Central precocious puberty: revisiting the diagnosis and therapeutic management by Brito, Vinícius Nahime, Spinola-Castro, Angela Maria, Kochi, Cristiane, Kopacek, Cristiane, Silva, Paulo César Alves da, Guerra-Júnior, Gil

“…Clinical and laboratory diagnosis and treatment of central precocious puberty (CPP) remain challenging due to lack of standardization. The aim of this revision…”
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Minimum Time to Achieve the Steady State and Optimum Abbreviated Period to Estimate the Resting Energy Expenditure by Indirect Calorimetry in Healthy Young Adults by Borges, Juliano H., Langer, Raquel D., Cirolini, Vagner X., Páscoa, Mauro A., Guerra-Júnior, Gil, Gonçalves, Ezequiel M.

“…Background: The optimum abbreviated period for measurement by indirect calorimetry (IC) to estimate the resting energy expenditure (REE), including the…”
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X‐linked congenital adrenal hypoplasia: Report of long clinical follow‐up and description of a new complex variant in the NR0B1 gene by Esquiaveto‐Aun, Adriana Mangue, Mello, Maricilda Palandi, Guaragna, Mara Sanches, Silva Lopes, Vera Lúcia Gil, Francese‐Santos, Ana Paula, Santos Cruz Piveta, Cristiane, Mazolla, Taís Nitsh, Lemos‐Marini, Sofia Helena Valente, Guerra‐Junior, Gil

“…Adrenal hypoplasia congenita, attributed to NR0B1 pathogenic variants, accounts for more than 50% of the incidence of primary adrenal insufficiency in…”
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Higher Body Fat but Similar Phase Angle Values in Patients with the Classical Form of Congenital Adrenal Hyperplasia in Comparison to a Control Group by de Oliveira, Núbia Maria, Langer, Raquel David, Valente Lemos-Marini, Sofia Helena, de Oliveira, Daniel Minutti, Geloneze, Bruno, Guerra-Júnior, Gil, Gonçalves, Ezequiel Moreira

“…This study aimed to compare phase angle (PhA) and bioelectrical impedance vector analysis (BIVA) values between adult patients with congenital adrenal…”
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Hyperprolactinemia in Children and Adolescents with Use of Risperidone: Clinical and Molecular Genetics Aspects by dos Santos Júnior, Amilton, Henriques, Taciane Barbosa, de Mello, Maricilda Palandi, Ferreira Neto, Adriana Perez, Paes, Lúcia Arisaka, Della Torre, Osmar Henrique, Sewaybricker, Letícia Esposito, Fontana, Thiago Salum, Celeri, Eloisa Helena Rubello Valler, Guerra Júnior, Gil, Dalgalarrondo, Paulo

“…In children and adolescents treated with risperidone, hyperprolactinemia is a frequent complication that may have clinical repercussions. Several genes have…”
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Clinical and laboratory differences between chromosomal and undefined causes of non-obstructive azoospermia: A retrospective study by Riccetto, Luísa, Vieira, Tarsis Paiva, Viguetti-Campos, Nilma Lucia, Mazzola, Tais Nitsch, Guaragna, Mara Sanches, Fabbri-Scallet, Helena, Mello, Maricilda Palandi de, Marques-de-Faria, Antonia Paula, Maciel-Guerra, Andrea Trevas, Guerra Junior, Gil

“…Knowledge of clinical and laboratory differences between chromosomal and undefined causes aids etiological research on non-obstructive azoospermia. Compare…”
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Neck circumference and excess weight: proposal of cutoff points for Brazilian adolescents by Folmann, Augusto Gerhart, Wolf, Vaneza Lira Waldow, Roman, Everton Paulo, Guerra-Júnior, Gil

“…To indicate neck circumference (NC) cutoff points to identify excess weight at different stages of somatic maturation and evaluate the association between NC…”
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Initial evidence for hypothalamic gliosis in children with obesity by quantitative T2 MRI and implications for blood oxygen‐level dependent response to glucose ingestion by Sewaybricker, Leticia E., Schur, Ellen A., Melhorn, Susan J., Campos, Brunno M., Askren, Mary K., Nogueira, Guilherme A. S., Zambon, Mariana P., Antonio, Maria Angela R. G. M., Cendes, Fernando, Velloso, Licio A., Guerra‐Junior, Gil

“…Summary Objective In adults, hypothalamic gliosis has been documented using quantitative T2 neuroimaging, whereas functional magnetic resonance imaging (fMRI)…”
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Association between muscle‐localized bioelectrical impedance analysis parameters and performance in a multi‐set exercise on the isokinetic dynamometer in young women by Fukuoka, Aryanne H., Oliveira, Núbia M., Matias, Catarina N., Guariglia, Débora A., Guerra‐Júnior, Gil, Gonçalves, Ezequiel M.

“…This study aimed to verify the relationship between changes in thigh muscle‐localized bioelectrical impedance analysis (ML‐BIA) parameters and performance in a…”
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Brazilian growth charts for Williams–Beuren Syndrome at ages 2 to 18 years by Strafacci, Amanda de Sousa Lima, Bertapelli, Fabio, Kim, Chong Ae, Rivadeneira, Maria José, Honjo, Rachel Sayuri, Domenici Kulikowski, Leslie, Ferreira, Danilo Moretti, Batista, Letícia Cassimiro, Lopes, Vera Lúcia Gil da Silva, Guerra Junior, Gil

“…To develop growth charts for weight-for-age, height-for-age, and body mass index (BMI)-for-age for both genders aged 2 to 18 years for Brazilian patients with…”
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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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New approach to phenotypic variability and karyotype-phenotype correlation in Turner syndrome by Miguel-Neto, Jamil, Carvalho, Annelise B, Marques-de-Faria, Antonia Paula, Guerra-Júnior, Gil, Maciel-Guerra, Andréa T

“…Phenotypic variability of Turner syndrome (TS) challenges clinicians, and undiagnosed mosaicism may lead to conflicting results of karyotype-phenotype…”
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Growth assessment in children with Williams-Beuren syndrome: a systematic review by de Sousa Lima Strafacci, Amanda, Fernandes Camargo, Juliana, Bertapelli, Fábio, Guerra Júnior, Gil

“…Williams-Beuren syndrome (WBS) is a rare genetic disease caused by a sporadic heterozygous microdeletion in 7q11.23. It is characterized by distinctive facial…”
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