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Results 1-10 of 81 (Search time: 0.102 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.
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.
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.
2018Central Precocious Puberty Caused by a Heterozygous Deletion in the MKRN3 Promoter RegionMACEDO, Delanie B.; FRANCA, Monica M.; MONTENEGRO, Luciana R.; CUNHA-SILVA, Marina; BESSA, Danielle S.; ABREU, Ana Paula; KAISER, Ursula B.; MENDONCA, Berenice B.; JORGE, Alexander A. L.; BRITO, Vinicius N.; LATRONICO, Ana Claudia
2019Targeted sequencing identifies novel variants in common and rare MODY genesSANTANA, Lucas S. de; CAETANO, Lilian A.; COSTA-RIQUETTO, Aline D.; FRANCO, Pedro C.; DOTTO, Renata P.; REIS, Andre F.; WEINERT, Leticia S.; SILVEIRO, Sandra P.; VENDRAMINI, Marcio F.; PRADO, Flaviene A. do; ABRAHAO, Giovanna C. P.; ALMEIDA, Ana Gregoria F. P. de; TAVARES, Maria da G. Rodrigues; GONCALVES, Wagner Rodrigo B.; SANTOMAURO JUNIOR, Augusto C.; HALPERN, Bruno; JORGE, Alexander A. L.; NERY, Marcia; TELES, Milena G.
2019Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan SyndromeMALAQUIAS, Alexsandra C.; NORONHA, Renata M.; SOUZA, Thaiana T. O.; HOMMA, Thais K.; FUNARI, Mariana F. A.; YAMAMOTO, Guilherme L.; SILVA, Fernanda Viana; MORAES, Michelle B.; HONJO, Rachel S.; KIM, Chong A.; NESI-FRANCA, Suzana; CARVALHO, Julienne A. R.; QUEDAS, Elisangela P. S.; BERTOLA, Debora R.; JORGE, Alexander A. L.