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Results 1-10 of 39 (Search time: 0.051 seconds).
Issue DateTitleAuthor(s)
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.
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
2012GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder EffectsMARUI, Suemi; TRARBACH, Ericka B.; BOGUSZEWSKI, Margaret C. S.; FRANCA, Marcela M.; JORGE, Alexander A. L.; INOUE, Hiroshi; NISHI, Mirian Y.; LACERDA FILHO, Luiz de; AGUIAR-OLIVEIRA, Manuel H.; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.
2012The Interactive Effect of GHR-Exon 3 and -202 A/C IGFBP3 Polymorphisms on rhGH Responsiveness and Treatment Outcomes in Patients with Turner SyndromeBRAZ, Adriana F.; COSTALONGA, Everlayny F.; MONTENEGRO, Luciana R.; TRARBACH, Ericka B.; ANTONINI, Sonir R. R.; MALAQUIAS, Alexsandra C.; RAMOS, Ester S.; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; JORGE, Alexander A. L.
2012Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathwayMALAQUIAS, Alexsandra C.; BRASIL, Amanda S.; PEREIRA, Alexandre C.; ARNHOLD, Ivo J. P.; MENDONCA, Berenice B.; BERTOLA, Debora R.; JORGE, Alexander A. L.