ANA CLAUDIA LATRONICO XAVIER
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Clínica Médica, Faculdade de Medicina - Docente
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
Instituto Central, Hospital das Clínicas, Faculdade de Medicina
LIM/42 - Laboratório de Hormônios e Genética Molecular, Hospital das Clínicas, Faculdade de Medicina
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Resultados de Busca
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conferenceObject Time Course of Central Precocious Puberty Development Caused by an MKRN3 Gene Mutation: A Prismatic Case(2016) STECCHINI, M.; MACEDO, D.; REIS, A. C.; ABREU, A. P.; MOREIRA, A.; CASTRO, M.; KAISER, U.; LATRONICO, A. C.; ANTONINI, S.conferenceObject X-Linked Central Precocious Puberty Associated with MECP2 defects(2022) CANTON, Ana; TINANO, Flavia; GUASTI, Leonardo; MONTENEGRO, Luciana; RYAN, Fiona; SHEARS, Deborah; MELO, Maria Edna; GOMES, Larissa; PIANA, Mariana; BRAUNER, Raja; ESPINO, Rafael; ESCRIBANO-MUNOZ, Arancha; PAGANONI, Alyssa; KORBONITS, Marta; SERAPHIM, Carlos Eduardo; FARIA, Aline; COSTA, Silvia; KREPISCHI, Ana Cristina; JORGE, Alexander; DAVID, Alessia; ARGENTE, Jesus; MENDONCA, Berenice; BRITO, Vinicius; HOWARD, Sasha; LATRONICO, Ana ClaudiaconferenceObject Peripheral Precocious Puberty in Girls with Mccune-Albright Syndrome: Treatment and Outcomes(2015) BARROSO, P.; RAMOS, C.; SILVA, M.; LIMA, L.; BESSA, D.; ARNHOLD, I; MENDONCA, B.; LATRONICO, A.; BRITO, VconferenceObject Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian Failure(2016) FRANCA, Monica; FUNARI, Mariana; NISHI, Mirian; DOMENICE, Sorahia; LATRONICO, Ana Claudia; JORGE, Alexander; LERARIO, Antonio; MENDONCA, Berenice- Novel OTX2 loss of function variant associated with congenital hypopituitarism without eye abnormalities(2022) GRIFFERO, Mariana; BENEDETTI, Anna Flavia Figueredo; PEREZ, Marcela; CARVALHO, Luciani; JORGE, Alexander; LATRONICO, Ana Claudia; MENDONCA, Berenice; ARNHOLD, Ivo; MERICQ, VeronicaObjectives The normal development of the pituitary gland requires multiple induction signals and transcription factors encoded by more than 30 genes, including OTX2. OTX2 mutations have been described with eye abnormalities and variable congenital hypopituitarism, but rarely with hypopituitarism without ocular manifestations. Case presentation We report a girl with hypopituitarism associated with pituitary hypoplasia and pituitary stalk atrophy, without ocular manifestations. NGS revealed a novel heterozygous mutation in OTX2 c.426dupC:p.(Ser143Leufs*2). Conclusions Mutations in the transcription factor OTX2 have been associated with ocular, craniofacial, and pituitary development anomalies. Here we describe a novel mutation in OTX2 associated with hypopituitarism without an ocular phenotype.
conferenceObject Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes(2023) REZENDE, Raissa; SCHAFER, Evan; KAISINGER, Lena; HE, Wen; ANDRADE, Nathalia; DANTAS, Naiara; CELLIN, Laurana; QUEDAS, Elisangela; PERRY, John; HOWARD, Sasha; LATRONICO, Ana Claudia; CHAN, Yee-Ming; JORGE, AlexanderconferenceObject Clinical and Genetic Features of Central Precocious Puberty Associated with Complex Phenotypes(2018) CANTON, Ana; BRITO, Vinicius; MONTENEGRO, Luciana; RAMOS, Carolina; MACEDO, Delanie; BESSA, Danielle; CUNHA, Marina; JORGE, Alexander; MENDONCA, Berenice; LATRONICO, Ana ClaudiaconferenceObject Several new candidate genes for self-limited delayed puberty revealed by whole exome sequencing(2023) REZENDE, Raissa; SCHAFER, Evan; KAISINGER, Lena; DANTAS, Naiara; ANDRADE, Nathalia; CELLIN, Laurana; QUEDAS, Elisangela; HE, Wen; PERRY, John; XAVIER, Ana Claudia Latronico; HOWARD, Sasha; CHAN, Yee-Ming; JORGE, AlexanderconferenceObject Prevalence of Micropenis in Isolated Congenital Hypogonadotropic Hypogonadism and Treatment Outcome after Testosterone Replacement Therapy(2015) LIMA, L.; FARIA, A.; COSTA, E.; LATRONICO, A.; MENDONCA, B.; GONTIJO, L.conferenceObject Update on the etiological diagnosis of central precocious puberty in both sexes(2023) CANTON, Ana; LATRONICO, Ana Claudia; MONTENEGRO, Luciana; PIOVESAN, Maiara; SERAPHIM, Carlos; TINANO, Flavia; FARIA, Aline; MENDONCA, Berenice; BRITO, Vinicius