Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development
Batista, Rafael Loch, Inácio, Marlene, Arnhold, Ivo Jorge Prado, Gomes, Nathália Lisboa, Faria, José Antônio Diniz, de Moraes, Daniela Rodrigues, Costa, Elaine Maria Frade, Domenice, Sorahia, Mendonça, Berenice Bilharinho
Published in The journal of clinical endocrinology and metabolism (01.04.2019)
Published in The journal of clinical endocrinology and metabolism (01.04.2019)
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Journal Article
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals
Domenice, Sorahia, Zamboni Machado, Aline, Moraes Ferreira, Frederico, Ferraz-de-Souza, Bruno, Marcondes Lerario, Antonio, Lin, Lin, Yumie Nishi, Mirian, Lisboa Gomes, Nathalia, Evelin da Silva, Thatiana, Barbosa Silva, Rosana, Vieira Correa, Rafaela, Ribeiro Montenegro, Luciana, Narciso, Amanda, Maria Frade Costa, Elaine, Achermann, John C, Bilharinho Mendonca, Berenice
Published in Birth defects research. Part C. Embryo today (01.12.2016)
Published in Birth defects research. Part C. Embryo today (01.12.2016)
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Journal Article
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum
da Silva, Thatiana Evilen, Gomes, Nathalia Lisboa, Lerário, Antonio Marcondes, Keegan, Catherine Elizabeth, Nishi, Mirian Yumi, Carvalho, Filomena Marino, Vilain, Eric, Barseghyan, Hayk, Martinez-Aguayo, Alejandro, Forclaz, María Verónica, Papazian, Regina, Pedroso de Paula, Leila Cristina, Costa, Eduardo Corrêa, Carvalho, Luciani Renata, Jorge, Alexander Augusto Lima, Elias, Felipe Martins, Mitchell, Rod, Costa, Elaine Maria Frade, Mendonca, Berenice Bilharinho, Domenice, Sorahia
Published in The journal of clinical endocrinology and metabolism (01.12.2019)
Published in The journal of clinical endocrinology and metabolism (01.12.2019)
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Journal Article
Androgen insensitivity syndrome: a review
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
Published in Archives of Endocrinology and Metabolism (01.03.2018)
Published in Archives of Endocrinology and Metabolism (01.03.2018)
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Journal Article
Sexuality and fertility desire in a large cohort of individuals with 46, XY differences in sex development
Batista, Rafael Loch, Inácio, Marlene, Brito, Vinicius Nahime, Sircili, Maria Helena Palma, Bag, Min Jeong, Gomes, Nathália Lisboa, Costa, Elaine Maria Frade, Domenice, Sorahia, Mendonca, Berenice Bilharinho
Published in Clinics (São Paulo, Brazil) (01.01.2023)
Published in Clinics (São Paulo, Brazil) (01.01.2023)
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Journal Article
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight
Freire, Bruna Lucheze, Homma, Thais Kataoka, Lerario, Antônio Marcondes, Seo, Go Hun, Han, Heonjong, Assis Funari, Mariana Ferreira, Gomes, Nathalia Lisboa, Rosemberg, Carla, Krepischi, Ana Cristina Victorino, Andrade Vasques, Gabriela, Malaquias, Alexsandra Christianne, Lima Jorge, Alexander Augusto
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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Journal Article
Variants in 46,XY DSD-Related Genes in Syndromic and Non-Syndromic Small for Gestational Age Children with Hypospadias
Leitao Braga, Barbara, Lisboa Gomes, Nathalia, Nishi, Mirian Y., Freire, Bruna L., Batista, Rafael L., D. Faria Junior, Jose A., Funari, Mariana F.A., Figueredo Benedetti, Anna F., de Moraes Narcizo, Amanda, Cavalca Cardoso, Lais, Lerario, Antonio M., Guerra-Junior, Gil, Frade Costa, Elaine M., Domenice, Sorahia, Jorge, Alexander A.L., Mendonca, Berenice B.
Published in Sexual development (01.01.2022)
Published in Sexual development (01.01.2022)
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Journal Article
Elevated plasma miR‐210 expression is associated with atypical genitalia in patients with 46,XY differences in sex development
Elias, Felipe Martins, Nishi, Mirian Yumi, Sircili, Maria Helena Palma, Bastista, Rafael Loch, Gomes, Nathalia Lisboa, Ferrari, Maria Tereza Martins, Costa, Elaine Maria Frade, Denes, Francisco Tibor, Mendonca, Berenice Bilharinho, Domenice, Sorahia
Published in Molecular genetics & genomic medicine (01.12.2022)
Published in Molecular genetics & genomic medicine (01.12.2022)
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Journal Article
Cytogenomic Investigation of Syndromic Brazilian Patients with Differences of Sexual Development
Faria, Jr, José Antonio Diniz, Moraes, Daniela R, Kulikowski, Leslie Domenici, Batista, Rafael Loch, Gomes, Nathalia Lisboa, Nishi, Mirian Yumie, Zanardo, Evelin, Nonaka, Carolina Kymie Vasques, de Freitas Souza, Bruno Solano, Mendonca, Berenice Bilharinho, Domenice, Sorahia
Published in Diagnostics (Basel) (30.06.2023)
Published in Diagnostics (Basel) (30.06.2023)
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Journal Article
WT1: A single gene associated with multiple and severe phenotypes
Ferrari, Maria Tereza Martins, Elias, Felipe Martins, Gomes, Nathalia Lisboa Rosa Almeida, Batista, Rafael Loch, Faria, José Antonio Diniz, Nishi, Mirian Yumie, Mendonca, Berenice Bilharinho de, Domenice, Sorahia
Published in Endocrine and metabolic science (01.12.2023)
Published in Endocrine and metabolic science (01.12.2023)
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Journal Article
46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency
Mendonca, Berenice B., Gomes, Nathalia Lisboa, Costa, Elaine M.F., Inacio, Marlene, Martin, Regina M., Nishi, Mirian Y., Carvalho, Filomena Marino, Tibor, Francisco Denes, Domenice, Sorahia
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
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Journal Article
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development
Gomes, Nathalia Lisboa, Batista, Rafael Loch, Nishi, Mirian Y, Lerário, Antônio Marcondes, Silva, Thatiana E, de Moraes Narcizo, Amanda, Benedetti, Anna Flávia Figueredo, de Assis Funari, Mariana Ferreira, Faria Junior, José Antônio, Moraes, Daniela Rodrigues, Quintão, Lia Mesquita Lousada, Montenegro, Luciana Ribeiro, Ferrari, Maria Teresa Martins, Jorge, Alexander A, Arnhold, Ivo J P, Costa, Elaine Maria Frade, Domenice, Sorahia, Mendonca, Berenice Bilharinho
Published in The journal of clinical endocrinology and metabolism (19.04.2022)
Published in The journal of clinical endocrinology and metabolism (19.04.2022)
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Journal Article
The Use of Genetics for Reaching a Diagnosis in XY DSD
Ahmed, S. Faisal, Alimusina, Malika, Batista, Rafael L., Domenice, Sorahia, Lisboa Gomes, Nathalia, McGowan, Ruth, Patjamontri, Supitcha, Mendonca, Berenice B.
Published in Sexual development (01.11.2022)
Published in Sexual development (01.11.2022)
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Journal Article
A recurrent synonymous mutation in the human androgen receptor gene causing complete androgen insensitivity syndrome
Batista, Rafael Loch, Rodrigues, Andresa di Santi, Nishi, Mirian Yumie, Gomes, Nathalia Lisboa, Faria, José Antonio Diniz, Moraes, Daniela Rodrigues de, Carvalho, Luciani Renata, Costa, Elaine Maria Frade, Domenice, Sorahia, Mendonca, Berenice Bilharinho
Published in The Journal of steroid biochemistry and molecular biology (01.11.2017)
Published in The Journal of steroid biochemistry and molecular biology (01.11.2017)
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Journal Article
46,XY disorder of sex development (DSD) due to 17ß-hydroxysteroid dehydrogenase type 3 deficiency
Mendonca, Berenice B, Gomes, Nathalia Lisboa, Costa, Elaine MF, Inacio, Marlene, Martin, Regina M, Nishi, Mirian Y, Carvalho, Filomena Marino, Tibor, Francisco Denes, Domenice, Sorahia
Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
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Published in The Journal of steroid biochemistry and molecular biology (01.01.2017)
Journal Article
THU210 A Single-center Retrospective Study Of Brazilian Subjects With Differences In Sex Development (DSD) From Infancy To Adulthood
Batista, Rafael Loch, Almeida Gomes, Nathalia Lisboa Rosa, Bachega, Tania A, Madureira, Guiomar, de Miranda, Mirela Costa, Thomazini Dallago, Renata T Dallago, Martins Ferrari, Maria Tereza, Lousada, Lia Mesquita, Craveiro, Flora Ladeira, Pereira Batatinha, Júlio Américo, Cunha Scalco, Renata Da, Frade Costa, Elaine Maria, Sircili, Maria Helena P, Denes, Francisco T, Inacio, Marlene, Nishi, Mirian Yumie, Domenice, Sorahia, Mendonca, Berenice Bilharinho
Published in Journal of the Endocrine Society (05.10.2023)
Published in Journal of the Endocrine Society (05.10.2023)
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Journal Article
MON-076 Adrenal Hypoplasia Congenita - Is It Possible to Make This Diagnose in Previous “Idiopathic” Adrenal Insufficient Patients? Series of Cases
Paula, Leila Pedroso de, Gomes, Nathalia Lisboa, Czepielewski, Mauro Antonio, De Mendonca, Berenice Bilarinho
Published in Journal of the Endocrine Society (08.05.2020)
Published in Journal of the Endocrine Society (08.05.2020)
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Journal Article
SUN-078 Clinical, Hormonal, Psychosexual Aspects, Gonadal Tumors and Genetic Background of an Androgen Insensitivity Syndrome Cohort
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
Published in Journal of the Endocrine Society (08.05.2020)
Published in Journal of the Endocrine Society (08.05.2020)
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Journal Article
SUN-709 MiR-200c Expression Profiles in Plasma of 46,XY DSD Patients of Unknown Etiology
Elias, Felipe Martins, Gomes, Nathalia Lisboa, Nishi, Mirian Yumie, Batista, Rafael Loch, Bissegatto, Debora Delmonte, Sircili, Maria Helena, Ferrari, Maria Tereza, Costa, Elaine Maria Frade, Mendonca, Berenice Bilharinho, Domenice, Sorahia
Published in Journal of the Endocrine Society (08.05.2020)
Published in Journal of the Endocrine Society (08.05.2020)
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Journal Article