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Results 1-10 of 90 (Search time: 0.025 seconds).
Issue DateTitleAuthor(s)
2013Heterozygous Mutations in Natriuretic Peptide Receptor-B (NPR2) Gene as a Cause of Short Stature in Patients Initially Classified as Idiopathic Short StatureVASQUES, Gabriela A.; AMANO, Naoko; DOCKO, Ana J.; FUNARI, Mariana F. A.; QUEDAS, Elisangela P. S.; NISHI, Mirian Y.; ARNHOLD, Ivo J. P.; HASEGAWA, Tomonobu; JORGE, Alexander A. L.
2013Deficiência da STAT5B : uma nova síndrome de insensibilidade ao hormônio de crescimento associada a acometimento imunológicoSCALCO, Renata C.; PUGLIESE-PIRES, Patricia N.; JORGE, Alexander A. L.
2011Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and pubertyPUGLIESE-PIRES, Patricia N.; FORTIN, Jean-Philippe; ARTHUR, Thais; LATRONICO, Ana Claudia; MENDONCA, Berenice B.; VILLARES, Sandra Mara F.; PARNHOLD, Ivo J.; KOPIN, Alan S.; JORGE, Alexander A. L.
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
2013Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephalyFRANCA, Marcela M.; JORGE, Alexander A. L.; CARVALHO, Luciani R. S.; COSTALONGA, Everlayny F.; OTTO, Aline P.; CORREA, Fernanda A.; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.
2013Analysis of the insulin-like growth factor 1 receptor gene in children born small for gestational age: in vitro characterization of a novel mutation (p.Arg511Trp)LEAL, Andrea C.; MONTENEGRO, Luciana R.; SAITO, Renata F.; RIBEIRO, Tamaya C.; COUTINHO, Debora C.; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L.
2013Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational ageCOLETTA, Rocio R. D.; JORGE, Alexander A. L.; ALVA, Catarina Brasil D'; PINTO, Emilia M.; BILLERBECK, Ana Elisa C.; PACHI, Paulo R.; LONGUI, Carlos A.; GARCIA, Ricardo M.; BOGUSZEWSKI, Margaret; ARNHOLD, Ivo J. P.; MENDONCA, Berenice B.; COSTA, Elaine M. F.
2019Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discoveryCORREA, Fernanda A.; NAKAGUMA, Marilena; MADEIRA, Joao L. O.; NISHI, Mirian Y.; ABRAO, Milena G.; JORGE, Alexander A. L.; CARVALHO, Luciani R.; ARNHOLD, Ivo J. P.; MENDONCA, Berenice B.
2019Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHRNAKAGUMA, Marilena; CORREA, Fernanda A.; SANTANA, Lucas S.; BENEDETTI, Anna F. F.; V, Ricardo Perez; HUAYLLAS, Martha K. P.; MIRAS, Mirta B.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; MENDONCA, Berenice B.; CARVALHO, Luciani R. S.; JORGE, Alexander A. L.; ARNHOLD, Ivo J. P.
2013The Sitting Height/Height Ratio for Age in Healthy and Short Individuals and Its Potential Role in Selecting Short Children for SHOX AnalysisMALAQUIAS, Alexsandra C.; SCALCO, Renata C.; FONTENELE, Eveline G. P.; COSTALONGA, Everlayny F.; BALDIN, Alexandre D.; BRAZ, Adriana F.; FUNARI, Mariana F. A.; NISHI, Mirian Y.; GUERRA-JUNIOR, Gil; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L.