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Results 1-10 of 48 (Search time: 0.167 seconds).
Issue DateTitleAuthor(s)
2018A novel mutation in PROP1 c.109+1G > A identified by target gene panel in patients with congenital growth hormone deficiencyNAKAGUMA, M.; JORGE, A. A. L.; FUNARI, M. F. A.; LERARIO, A. M.; CORREA, F. A.; CARVALHO, L. R. S.; ARNHOLD, I. J. P.
2018Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencingCARVALHO, Rafael A.; URTREMARI, Betsaida; JORGE, Alexander A. L.; SANTANA, Lucas S.; QUEDAS, Elisangela P. S.; SEKIYA, Tomoko; LONGUINI, Viviane C.; MONTENEGRO, Fabio L. M.; LERARIO, Antonio M.; TOLEDO, Sergio P. A.; MARX, Stephen J.; TOLEDO, Rodrigo A.; JR, Delmar M. Lourenco
2018EPAS1 Mutations and Paragangliomas in Cyanotic Congenital Heart DiseaseVAIDYA, Anand; FLORES, Shahida K.; CHENG, Zi-Ming; NICOLAS, Marlo; DENG, Yilun; OPOTOWSKY, Alexander R.; LOURENCO JR., Delmar M.; BARLETTA, Justine A.; RANA, Huma Q.; PEREIRA, M. Adelaide; TOLEDO, Rodrigo A.; DAHIA, Patricia L. M.
2018Prolactinomas: how to handle prior to and during pregnancy?GLEZER, A. Ndrea; BRONSTEIN, Marcello D.
2018The Metabolic Profile Associated with RASopathiesNORONHA, Renata; HOMMA, Thais; MORAES, Michelle; ALBUQUERQUE, Edoarda; FUNARI, Mariana; PEREIRA, Alexandre; VILLARES, Sandra; BERTOLA, Debora; JORGE, Alexander; MALAQUIAS, Alexsandra
2018Clinical and Genetic Features of Central Precocious Puberty Associated with Complex PhenotypesCANTON, Ana; BRITO, Vinicius; MONTENEGRO, Luciana; RAMOS, Carolina; MACEDO, Delanie; BESSA, Danielle; CUNHA, Marina; JORGE, Alexander; MENDONCA, Berenice; LATRONICO, Ana Claudia
2018Novel Variants in the POU1F1 Beta Isoform Are Associated with Isolated Growth Hormone Deficiency and Combined Pituitary Hormone DeficiencyHOPPMANN, Julia; ROCKSTROH-LIPPOLD, Denise; GERGICS, Peter; NAKAGUMA, Marilena; CARVALHO, Luciani Renata Silveira; PFAEFFLE, Heike; JAMRA, Rami Abou; JORGE, Alexander; GUO, Michael H.; DAUBER, Andrew; KELLER, Eberhard; CAMPER, Sally A.; ARNHOLD, Ivo J. P.; PFAEFFLE, Roland
2018Genetic Causes of Short Stature in Patients with Previously Diagnosed as Idiopathic Prenatal Short StatureHOMMA, Thais; FREIRE, B.; FUNARI, M.; LERARIO, M.; MALAQUIAS, A.; JORGE, A.
2018Genetic Investigation of Children with Syndromic Prenatal Onset Short StatureHOMMA, Thais; FREIRE, Bruna; RONJO, Rachel; DAUBER, Andrew; FUNARI, Mariana; LERARIO, Antonio; ARNHOLD, Ivo; CANTON, Ana; SUGAYAMA, Sofia; BERTOLA, Debora; KIM, Chong; MALAQUIAS, Alexsandra; JORGE, Alexander
2018Genetic Evaluation of Syndromic Short Stature Children Born Small for Gestational AgeHOMMA, T.; FREIRE, B.; HONJO, R.; DAUBER, A.; FUNARI, M.; LERARIO, A.; ARNHOLD, I.; CANTON, A.; SUGAYAMA, S.; BERTOLA, D.; KIM, C.; MALAQUIAS, A.; JORGE, A.