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Results 1-10 of 21 (Search time: 0.01 seconds).
Issue DateTitleAuthor(s)
2021Insights from the genetic characterization of central precocious puberty associated with multiple anomaliesCANTON, Ana Pinheiro Machado; KREPISCHI, Ana Cristina Victorino; MONTENEGRO, Luciana Ribeiro; COSTA, Silvia; ROSENBERG, Carla; STEUNOU, Virginie; SOBRIER, Marie-Laure; SANTANA, Lucas; HONJO, Rachel Sayuri; KIM, Chong Ae; ZEGHER, Francis de; IDKOWIAK, Jan; GILLIGAN, Lorna C.; ARLT, Wiebke; FUNARI, Mariana Ferreira de Assis; JORGE, Alexander Augusto de Lima; MENDONCA, Berenice Bilharinho; NETCHINE, Irene; BRITO, Vinicius Nahime; LATRONICO, Ana Claudia
2021Activation of the MAPK pathway (RASopathies) and partial growth hormone insensitivityMALAQUIAS, Alexsandra C.; JORGE, Alexander A. L.
2021Response to Letter to the Editor: ""A Genome-Wide Pharmacogenetic Study of Growth Hormone Responsiveness""HIRSCHHORN, Joel N.; DAUBER, Andrew; AUDI, Laura; VEDANTAM, Sailaja; RANKE, Michael B.; JORGE, Alexander A. L.; LINDBERG, Anders; CAMACHO-HUBNER, Cecilia; WAJNRAJCH, Michael P.
2021Adult Height in 299 Patients with Turner Syndrome with or without Growth Hormone Therapy: Results and Literature ReviewDANTAS, Naiara C. B.; BRAZ, Adriana F.; MALAQUIAS, Alexsandra; LEMOS-MARINI, Sofia; ARNHOLD, Ivo J. P.; SILVEIRA, Ester R.; ANTONINI, Sonir R.; GUERRA-JUNIOR, Gil; MENDONCA, Berenice; JORGE, Alexander; SCALCO, Renata C.
2021Congenital chromoanagenesis in the routine postnatal chromosomal microarray analysesVILLELA, Darine; MAZZONETTO, Patricia C.; MIGLIAVACCA, Michele P.; PERRONE, Eduardo; GUIDA, Gustavo; MILANEZI, Maria Fernanda G.; JORGE, Alexander A. L.; RIBEIRO-BICUDO, Lucilene A.; KOK, Fernando; CAMPAGNARI, Francine; ROSSO-GIULIANI, Liane de; COSTA, Silvia Souza da; VIANNA-MORGANTE, Angela M.; PEARSON, Peter L.; KREPISCHI, Ana C. V.; ROSENBERG, Carla
2021Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex developmentMONTENEGRO, Luciana R.; LERARIO, Antonio M.; NISHI, Miriam Y.; JORGE, Alexander A. L.; MENDONCA, Berenice B.
2021Machine Learning-based Prediction Model for Treatment of Acromegaly With First-generation Somatostatin Receptor LigandsWILDEMBERG, Luiz Eduardo; CAMACHO, Aline Helen da Silva; MIRANDA, Renan Lyra; ELIAS, Paula C. L.; MUSOLINO, Nina R. de Castro; NAZATO, Debora; JALLAD, Raquel; HUAYLLAS, Martha K. P.; MOTA, Jose Italo S.; ALMEIDA, Tobias; PORTES, Evandro; JR, Antonio Ribeiro-Oliveira; VILAR, Lucio; BOGUSZEWSKI, Cesar Luiz; TAVARES, Ana Beatriz Winter; NUNES-NOGUEIRA, Vania S.; MAZZUCO, Tania Longo; RECH, Carolina Garcia Soares Leaes; MARQUES, Nelma Veronica; CHIMELLI, Leila; CZEPIELEWSKI, Mauro; BRONSTEIN, Marcello D.; ABUCHAM, Julio; CASTRO, Margaret de; KASUKI, Leandro; GADELHA, Monica
2021The phenotypic spectrum associated with OTX2 mutations in humansGREGORY, Louise C.; GERGICS, Peter; NAKAGUMA, Marilena; BANDO, Hironori; PATTI, Giuseppa; MCCABE, Mark J.; FANG, Qing; MA, Qianyi; OZEL, Ayse Bilge; LI, Jun Z.; POINA, Michele Moreira; JORGE, Alexander A. L.; BENEDETTI, Anna F. Figueredo; LERARIO, Antonio M.; ARNHOLD, Ivo J. P.; MENDONCA, Berenice B.; MAGHNIE, Mohamad; CAMPER, Sally A.; CARVALHO, Luciani R. S.; DATTANI, Mehul T.
2021Management of hypopituitarism: a perspective from the Brazilian Society of Endocrinology and MetabolismGARMES, Heraldo Mendes; BOGUSZEWSKI, Cesar Luiz; MIRANDA, Paulo Augusto Carvalho; MARTINS, Manoel Ricardo Alves; SILVA, Silvia Regina Correa da; ABUCHAM FILHO, Julio Zaki; MUSOLINO, Nina Rosa de Castro; VILAR, Lucio; PORTARI, Luiz Henrique Correa; GADELHA, Monica Roberto; KASUKI, Leandro; NAVES, Luciana Ansaneli; CZEPIELEWSKI, Mauro Antonio; ALMEIDA, Tobias Skrebsky de; DUARTE, Felipe Henning Gaia; GLEZER, Andrea; BRONSTEIN, Marcello Delano
2021High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiencyGERGICS, Peter; SMITH, Cathy; BANDO, Hironori; JORGE, Alexander A. L.; ROCKSTROH-LIPPOLD, Denise; VISHNOPOLSKA, Sebastian A.; CASTINETTI, Frederic; MAKSUTOVA, Mariam; CARVALHO, Luciani Renata Silveira; HOPPMANN, Julia; MAYER, Julian Martinez; ALBAREL, Frederique; BRASLAVSKY, Debora; KESELMAN, Ana; BERGADA, Ignacio; MARTI, Marcelo A.; SAVEANU, Alexandru; BARLIER, Anne; JAMRA, Rami Abou; GUO, Michael H.; DAUBER, Andrew; NAKAGUMA, Marilena; MENDONCA, Berenice B.; JAYAKODY, Sajini N.; OZEL, A. Bilge; FANG, Qing; MA, Qianyi; LI, Jun Z.; BRUE, Thierry; MILLAN, Maria Ines Perez; ARNHOLD, Ivo J. P.; PFAEFFLE, Roland; KITZMAN, Jacob O.; CAMPER, Sally A.