Search Results - "Longui, Carlos A"

The use of aromatase inhibitors in boys with short stature: what to know before prescribing? by Linardi, Alessandra, Damiani, Durval, Longui, Carlos A

“…Aromatase is a cytochrome P450 enzyme (CYP19A1 isoform) able to catalyze the conversion of androgens to estrogens. The aromatase gene mutations highlighted the…”
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A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype by Borghi, Mauro, Silva, Leopoldo Muniz da, Bispo, Luciana, Longui, Carlos A.

“…Aim X-linked hypophosphatemia (XLH) is the most common inherited form of rickets, and it is caused by pathogenic inactivating variants of the…”
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A Multifocal Pediatric Papillary Thyroid Carcinoma (PTC) Harboring the AGK-BRAF and RET/PTC3 Fusion in a Mutually Exclusive Pattern Reveals Distinct Levels of Genomic Instability and Nuclear Organization by Sisdelli, Luiza, Cordioli, Maria Isabel V, Vaisman, Fernanda, Monte, Osmar, Longui, Carlos A, Cury, Adriano N, Freitas, Monique O, Rangel-Pozzo, Aline, Mai, Sabine, Cerutti, Janete M

“…The spectrum and incidence of gene fusions in papillary thyroid carcinoma (PTC) can differ significantly depending on the age of onset, histological subtype or…”
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AGK‐BRAF gene fusion is a recurrent event in sporadic pediatric thyroid carcinoma by Cordioli, Maria Isabel C. V., Moraes, Lais, Carvalheira, Gianna, Sisdelli, Luiza, Alves, Maria Teresa S., Delcelo, Rosana, Monte, Osmar, Longui, Carlos A., Cury, Adriano N., Cerutti, Janete M.

“…Thyroid cancer is the fastest increasing cancer worldwide in all age groups. Papillary thyroid carcinoma (PTC) is the most common type of thyroid cancer in…”
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Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development by Lodge, Emily J, Xekouki, Paraskevi, Silva, Tatiane S, Kochi, Cristiane, Longui, Carlos A, Faucz, Fabio R, Santambrogio, Alice, Mills, James L, Pankratz, Nathan, Lane, John, Sosnowska, Dominika, Hodgson, Tina, Patist, Amanda L, Francis-West, Philippa, Helmbacher, Francoise, Stratakis, Constantine, Andoniadou, Cynthia L

“…Pituitary developmental defects lead to partial or complete hormone deficiency and significant health problems. The majority of cases are sporadic and of…”
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Impact of early postnatal androgen exposure on voice development by Grisa, Leila, Leonel, Maria L, Gonçalves, Maria I R, Pletsch, Francisco, Sade, Elis R, Custódio, Gislaine, Zagonel, Ivete P S, Longui, Carlos A, Figueiredo, Bonald C

“…The impact of early postnatal androgen exposure on female laryngeal tissue may depend on certain characteristics of this exposure. We assessed the impact of…”
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Reported shoes size during GH therapy: is foot overgrowth a myth or reality? by Lago, Débora C F, Coutinho, Cláudia A, Kochi, Cristiane, Longui, Carlos A

“…To describe population reference values for shoes size, and to identify possible disproportional foot growth during GH therapy. Construction of percentile…”
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Bone age determination in eutrophic, overweight and obese Brazilian children and adolescents: a comparison between computerized BoneXpert and Greulich-Pyle methods by Artioli, Thiago O., Alvares, Matheus A., Carvalho Macedo, Vanessa S., Silva, Tatiane S., Avritchir, Roberto, Kochi, Cristiane, Longui, Carlos A.

“…Background Bone age determination is usually employed to evaluate growth disorders and their treatment. The Greulich-Pyle method is the simplest and most…”
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Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age by Coletta, Rocio R D, Jorge, Alexander A L, D' Alva, Catarina Brasil, Pinto, Emília M, Billerbeck, Ana Elisa C, Pachi, Paulo R, Longui, Carlos A, Garcia, Ricardo M, Boguszewski, Margaret, Arnhold, Ivo J P, Mendonca, Berenice B, Costa, Elaine M F

“…To investigate the influence of (CA)n repeats in the insulin-like growth factor 1 gene and a variable number of tandem repeats of the insulin gene on birth…”
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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 by 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

“…The human chorionic gonadotropin (hCG) stimulation test that evaluates gonadal steroidogenesis is crucial in the assessment of patients with 46,XY disorders of…”
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Assessment of intima-media thickness of the carotid artery and intraluminal diameter of the brachial artery as cardiovascular risk markers in Brazilian adolescents with overweight or obesity by Ribeiro, Alessandra C R, Lyra, Arthur, Bonfitto, Alexandre J, Tostes Filho, Gilmar V, Zanesco, Leonardo, Fleury, Eduardo F C, Ferreira, Aleksandro B, Longui, Carlos A, Monte, Osmar, Kochi, Cristiane

“…Background The intima-media thickness of the carotid artery (cIMT) and endothelial dysfunction are associated with cardiovascular (CV) disease. Objectives To…”
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Whole Exome Sequencing in Patients With Ectopic Posterior Pituitary by Silva, Tatiane S, Faucz, Fabio R, Hernández-Ramírez, Laura C, Pankratz, Nathan, Lane, John, Kay, Denise M, Lyra, Arthur, Kochi, Cristiane, Stratakis, Constantine A, Longui, Carlos A, Mills, James L

“…Abstract Context Ectopic posterior pituitary (EPP), a condition in which the posterior pituitary gland is displaced due to defective neuronal migration, is…”
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A Single Nucleotide Variant in the Promoter Region of 17β-HSD Type 5 Gene Influences External Genitalia Virilization in Females with 21-Hydroxylase Deficiency by Kaupert, Laura C, Gomes, Larissa G, Brito, Vinícius N, Lemos-Marini, Sofia H V, de Mello, Maricilda P, Longui, Carlos A, Kochi, Cristiane, de Castro, Margaret, Guerra, Jr, Gil, Mendonca, Berenice B, Bachega, Tânia A S S

“…In 21-hydroxylase deficiency (21-OHD), there is an influence of genotype on the severity of external genitalia virilization. However, females carrying…”
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P450c17 Deficiency in Brazilian Patients: Biochemical Diagnosis through Progesterone Levels Confirmed by CYP17 Genotyping by Martin, Regina M., Lin, Chin J., Costa, Elaine M. F., de Oliveira, Maria Leocadia, Carrilho, Alexandre, Villar, Heloisa, Longui, Carlos A., Mendonca, Berenice B.

“…P450c17 deficiency is an autosomal recessive disorder and a rare cause of congenital adrenal hyperplasia characterized by hypertension, hypokalemia, and…”
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The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene by Rocha, Rosana O., Billerbeck, Ana Elisa C., Pinto, Emília M., Melo, Karla F. S., Lin, Chin J., Longui, Carlos A., Mendonca, Berenice B., Bachega, Tânia A. S. S.

“…Summary Background  Women with 21‐hydroxylase deficiency present much variability in external genitalia virilization, even among those with similar impairments…”
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Clinical experience with radioactive iodine in the treatment of childhood and adolescent Graves' disease by Cury, Adriano N, Meira, Verônica T, Monte, Osmar, Marone, Marília, Scalissi, Nilza M, Kochi, Cristiane, Calliari, Luís E P, Longui, Carlos A

“…Background/aims Treatments for Graves' disease (GD) in children and adolescents include oral antithyroid drugs (ATDs), near total thyroidectomy, and…”
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Normal reference values of Southwickʼs anteroposterior angle in prepubertal and pubertal normal adolescents by Damaceno, Francisco Laecio Vieira, Santili, Claudio, Longui, Carlos A

“…Measurement of the Southwickʼs anteroposterior (AP) angle (shaft epiphysis proximal femoral AP angle) is not only a useful tool for planning the surgical…”
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XX Annual Meeting of the Latin American Society for Pediatric Endocrinology (SLEP) Lima, Peru, October 11-14, 2008 by Domené, Horacio M, Longui, Carlos A, Guerra Junior, Gil, Jasper, Héctor G, Lanes, Roberto

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Myocilin mt.1 gene promoter single nucleotide polymorphism (-1000C>G) in Brazilian patients with primary open angle glaucoma by Kasahara, Niro, Caixeta-Umbelino, Cristiano, Paolera, Maurício D., Rocha, Mylene N., Richeti, Flávio, Vasconcellos, José P.C., Cohen, Ralph, Costa, Vital P., Longui, Carlos A., Melo, Murilo R., Melo, Mônica B.

“…Background: The myocilin (MYOC) gene promoter polymorphism -1000C>G (MYOC mt.1) can be associated with faster progression of primary open angle glaucoma…”
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Real-time PCR quantitation of glucocorticoid receptor alpha isoform by Melo, Murilo R, Faria, Cláudia D C, Melo, Keli C, Rebouças, Nancy A, Longui, Carlos A

“…The expression of glucocorticoid-receptor (GR) seems to be a key mechanism in the regulation of glucocorticoid (GC) sensitivity and is potentially involved in…”
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