Search Results - "Rodrigues, Andresa De Santi"

Androgen receptor mRNA analysis from whole blood: a low‐cost strategy for detection of androgen receptor gene splicing defects by Silva, Juliana M., Batista, Rafael Loch, De Santi Rodrigues, Andresa, Nishi, Mirian Y., Costa, Elaine M.F., Domenice, Sorahia, Carvalho, Luciani R.S., Mendonca, Berenice B.

“…Androgen insensitivity syndrome (AIS) is caused by defects in the androgen receptor (AR) gene and is the most common aetiology of 46,XY disorders of sex…”
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Androgen insensitivity syndrome: a review by Batista, Rafael Loch, Costa, Elaine M Frade, Rodrigues, Andresa de Santi, Gomes, Nathalia Lisboa, Faria, Jr, José Antonio, Nishi, Mirian Y, Arnhold, Ivo Jorge Prado, Domenice, Sorahia, Mendonca, Berenice Bilharinho de

“…Androgenic insensitivity syndrome is the most common cause of disorders of sexual differentiation in 46,XY individuals. It results from alterations in the…”
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Progressive myopathy with a combined respiratory chain defect including Complex II by De Santi Rodrigues, Andresa, Kiyomoto, Beatriz H, Oliveira, Acary S.B, Gabbai, Alberto A, Schmidt, Beny, Tengan, Celia H

“…Abstract Biochemical defects in the respiratory chain are mostly associated with deficiencies in Complexes I, III and IV, caused by nuclear or mitochondrial…”
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Neonatal 17‐hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening by Hayashi, Giselle Y., Carvalho, Daniel F., Miranda, Mirela C., Faure, Cláudia, Vallejos, Carla, Brito, Vinícius N., Rodrigues, Andresa De Santi, Madureira, Guiomar, Mendonca, Berenice B., Bachega, Tânia A.S.S.

“…Summary Introduction The primary concern related to congenital adrenal hyperplasia (CAH) newborn screening (NBS) is the high rate of false‐positive results…”
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Partial androgen insensitivity syndrome due to somatic mosaicism of the androgen receptor by Batista, Rafael Loch, Rodrigues, Andresa De Santi, Machado, Aline Zamboni, Nishi, Mirian Yumie, Cunha, Flávia Siqueira, Silva, Rosana Barbosa, Costa, Elaine M F, Mendonca, Berenice B, Domenice, Sorahia

“…Androgen insensitivity syndrome (AIS) is the most frequent etiology of 46,XY disorders of sex development (DSDs), and it is an X-linked disorder caused by…”
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Effects of Pre and Post-Natal Androgen Exposure on Psychosexual Aspects and Gender Change in Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency by Batista, Rafael Loch, Inacio, Marlene, de Miranda, Mirela Costa, Madureira, Guiomar, Gomes, Larissa Garcia, Rodrigues, Andresa De Santi, Bachega, Tania A, Mendonca, Berenice Bilharinho

“…Introduction: Congenital Adrenal Hyperplasia (CAH) is defined as a group of autosomal recessive disorders characterized by a deficiency of the enzyme required…”
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Complex I spectrophotometric assay in cultured cells: Detailed analysis of key factors by Oliveira, Kátia Klug, Kiyomoto, Beatriz Hitomi, Rodrigues, Andresa De Santi, Tengan, Célia Harumi

“…The diagnosis of mitochondrial encephalomyopathies caused by complex I (C-I) deficiency relies mainly on the spectrophotometric C-I assay. Considered…”
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MON-333 Cutaneous Skeletal Hypophosphatemic Syndrome (Cshs) Caused by Somatic HRAS p.G13R Mutation: Long Follow-Up of Two Brazilian Women by Maia, Thamiris Freitas, Freire, Bruna Lucheze, Rodrigues, Andresa de Santi, Jorgetti, Vanda, Rocha, André Caroli, Moises, Caio Santiago, de Souza, Bruno Ferraz, Rodrigues, Marcelo Bordalo, Jorge, Alexander Augusto de Lima, Martin, Regina Matsunaga, Cabral, Hially R

“…BACKGROUND CSHS refers to the association of epidermal nevus syndrome (ENS), skeletal dysplasia, and hypophosphatemic osteomalacia (OM) mediated by FGF23…”
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SUN-078 Clinical, Hormonal, Psychosexual Aspects, Gonadal Tumors and Genetic Background of an Androgen Insensitivity Syndrome Cohort by Batista, Rafael Loch, Ramos, Raquel Martinez, Almeida Gomes, Nathalia Lisboa Rosa, Ferrari, Maria Tereza Martins, Elias, Felipe Martins, Rodrigues, Andresa De Santi, Nishi, Mirian Yumie, Silva, Juliana M, Costa, Elaine Maria Frade, Domenice, Sorahia, Mendonca, Berenice Bilharinho

“…Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is a X-linked…”
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