Functional Impact of Novel Androgen Receptor Mutations on the Clinical Manifestation of Androgen Insensitivity Syndrome von Petroli, Reginaldo J., Hiort, Olaf, Struve, Dagmar, Gesing, Julia K., Soardi, Fernanda C., Spínola-Castro, Angela M., Melo, Karla, Prado Arnhold, Ivo J., Maciel-Guerra, Andréa T., Guerra-Junior, Gil, Werner, Ralf, de Mello, Maricilda P.

Volltext

Allelic Variants of the γ-Aminobutyric Acid-A Receptor α1-Subunit Gene (GABRA1) Are Not Associated with Idiopathic Gonadotropin-Dependent Precocious Puberty in Girls with and witho... von Brito, Vinicius Nahime, Mendonca, Berenice Bilharinho, Guilhoto, Laura M. F. F., Freitas, Karina Cocco Monteiro, Arnhold, Ivo J. Prado, Latronico, Ana Claudia

Volltext

Allelic Variants of the gamma -Aminobutyric Acid-A Receptor alpha 1-Subunit Gene (GABRA1) Are Not Associated with Idiopathic Gonadotropin-Dependent Precocious Puberty in Girls with... von Brito, Vinicius Nahime, Mendonca, Berenice Bilharinho, Guilhoto, Laura MFF, Freitas, Karina Cocco Monteiro, Arnhold, Ivo JPrado, Latronico, Ana Claudia

Volltext

Allelic variants of the gamma-aminobutyric acid-A receptor alpha1-subunit gene (GABRA1) are not associated with idiopathic gonadotropin-dependent precocious puberty in girls with a... von Brito, Vinicius Nahime, Mendonca, Berenice Bilharinho, Guilhoto, Laura M F F, Freitas, Karina Cocco Monteiro, Arnhold, Ivo J Prado, Latronico, Ana Claudia

Volltext

Efeito fundador da mutação E180splice no gene do receptor de hormônio de crescimento identificada em pacientes brasileiros com insensibilidade ao GH von Jorge, Alexander A. de Lima, Menezes Filho, Hamilton C. de, Lins, Theresa S. Soares, Guedes, Dulce Rondini, Damiani, Durval, Setian, Nuvarte, Arnhold, Ivo J. Prado, Mendonça, Berenice B. de

Volltext

Bases Genéticas dos Distúrbios de Crescimento von Marui, Suemi, Souza, Silvia Leão Corral, Carvalho, Luciani R. S. de, Jorge, Alexander A. de Lima, Mendonça, Berenice B. de, Arnhold, Ivo J. Prado

Volltext

Bases Genéticas dos Distúrbios de Crescimento von Marui, Suemi, Souza, Silvia Leão Corral, Carvalho, Luciani R. S. de, Jorge, Alexander A. de Lima, Mendonça, Berenice B. de, Arnhold, Ivo J. Prado

Volltext

Founder effect of E180splice mutation in growth hormone receptor gene (GHR) identified in Brazilian patients with GH insensitivity von Jorge, Alexander A de Lima, Menezes Filho, Hamilton C de, Lins, Theresa S Soares, Guedes, Dulce Rondini, Damiani, Durval, Setian, Nuvarte, Arnhold, Ivo J Prado, Mendonça, Berenice B de

Volltext

Efeito fundador da mutação E180splice no gene do receptor de hormônio de crescimento identificada em pacientes brasileiros com insensibilidade ao GH von Jorge, Alexander A. de Lima, Menezes Filho, Hamilton C. de, Lins, Theresa S. Soares, Guedes, Dulce Rondini, Damiani, Durval, Setian, Nuvarte, Arnhold, Ivo J. Prado, Mendonça, Berenice B. de

Volltext

Psychosexual Aspects, Effects of Prenatal Androgen Exposure, and Gender Change in 46,XY Disorders of Sex Development von 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

Volltext

Genetic Disorders in Prenatal Onset Syndromic Short Stature Identified by Exome Sequencing von Homma, Thais Kataoka, Freire, Bruna Lucheze, Honjo Kawahira, Rachel Sayuri, Dauber, Andrew, Funari, Mariana Ferreira de Assis, Lerario, Antônio Marcondes, Nishi, Mirian Yumie, Albuquerque, Edoarda Vasco de, Vasques, Gabriela de Andrade, Collett-Solberg, Paulo Ferrez, Miura Sugayama, Sofia Mizuho, Bertola, Debora Romeo, Kim, Chong Ae, Arnhold, Ivo Jorge Prado, Malaquias, Alexsandra Christianne, Jorge, Alexander Augusto de Lima

Volltext

Androgen insensitivity syndrome: a review von Batista, Rafael Loch, Costa, Elaine M. Frade, Rodrigues, Andresa de Santi, Gomes, Nathalia Lisboa, Faria, José Antonio, Nishi, Mirian Y., Arnhold, Ivo Jorge Prado, Domenice, Sorahia, Mendonca, Berenice Bilharinho de

Volltext

Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant von Labello, Julia Haddad, Benedetti, Anna Flávia Figueredo, Azevedo, Bruna Viscardi, Jorge, Alexander Augusto de Lima, Cescato, Valter Angelo Sperling, Rosemberg, Sergio, Frasseto, Fernando Pereira, Arnhold, Ivo Jorge Prado, Carvalho, Luciani Renata Silveira de

Volltext

Genetic investigation of patients with tall stature von Vasco de Albuquerque Albuquerque, Edoarda, Ferreira de Assis Funari, Mariana, Pereira de Souza Quedas, Elisângela, Sayuri Honjo Kawahira, Rachel, Soares Jallad, Raquel, Homma, Thaís Kataoka, Martin, Regina Matsunaga, Brito, Vinicius Nahime, Malaquias, Alexsandra Christianne, Lerario, Antonio Marcondes, Rosenberg, Carla, Victorino Krepischi, Ana Cristina, Ae Kim, Chong, Arnhold, Ivo Jorge Prado, Jorge, Alexander Augusto de Lima

Volltext

Vasculometabolic effects in patients with congenital growth hormone deficiency with and without GH replacement therapy during adulthood von Biscotto, Isabela Peixoto, Costa Hong, Valéria Aparecida, Batista, Rafael Loch, Mendonca, Berenice Bilharinho, Arnhold, Ivo Jorge Prado, Bortolotto, Luiz Aparecido, Carvalho, Luciani Renata Silveira

Volltext

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum von Nakaguma, Marilena, Ferreira, Nathalia Garcia Bianchi Pereira, Benedetti, Anna Flavia Figueredo, Madi, Mariana Cotarelli, Silva, Juliana Moreira, Li, Jun Z, Ma, Qianyi, Bilge Ozel, Ayse, Fang, Qing, Narcizo, Amanda de Moraes, Cardoso, Laís Cavalca, Montenegro, Luciana Ribeiro, Funari, Mariana Ferreira de Assis, Nishi, Mirian Yumie, Arnhold, Ivo Jorge Prado, Jorge, Alexander Augusto de Lima, Mendonca, Berenice Bilharinho de, Camper, Sally Ann, Carvalho, Luciani R

Volltext

Triple A Syndrome: Preliminary Response to the Antioxidant N-Acetylcysteine Treatment in a Child von Fragoso, Maria Candida Barisson Villares, Albuquerque, Edoarda Vasco de Albuquerque, Cardoso, Ana Luiza de Almeida, da Rosa, Paula Waki Lopes, de Paulo, Rodrigo Bomeny, Schimizu, Maria Heloisa Massola, Seguro, Antonio Carlos, Passarelli, Marisa, Koehler, Katrin, Huebner, Angela, Almeida, Madson Q., Latronico, Ana Claudia, Arnhold, Ivo Jorge Prado, Mendonca, Berenice Bilharinho

Volltext

Factors Determining Normal Adult Height in Girls with Gonadotropin-Dependent Precocious Puberty Treated with Depot Gonadotropin-Releasing Hormone Analogs von Brito, Vinicius Nahime, Latronico, Ana Claudia, Cukier, Priscilla, Teles, Milena Gurgel, Silveira, Letícia F. G., Arnhold, Ivo Jorge Prado, Mendonca, Berenice Bilharinho

Volltext

Gonadotropin Resistance von Latronico, Ana Claudia, Arnhold, Ivo Jorge Prado

Volltext

Long-term treatment of familial male-limited precocious puberty (testotoxicosis) with cyproterone acetate or ketoconazole von Almeida, Madson Queiroz, Brito, Vinicius Nahime, Lins, Thereza Selma S., Guerra-Junior, Gil, De Castro, Margaret, Antonini, Sonir Roberto, Arnhold, Ivo Jorge Prado, Mendonca, Berenice Bilharinho, Latronico, Ana Claudia

Volltext