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Results 31-40 of 43 (Search time: 0.072 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2014 | Amplification of the Insulin-like Growth Factor 1 Receptor Gene in an Adrenocortical Adenocarcinoma: Searching for Potential Mechanisms of Overexpression | RIBEIRO, Tamaya C.; JORGE, Alexander Augusto Lima; ALMEIDA, Madson Q.; MARIANI, Beatriz M. P.; NISHI, Mirian Yumie; MENDONCA, Berenice B.; FRAGOSO, Maria Candida Barisson Villares; LATRONICO, Ana Claudia |
| 2014 | Evidence for a Founder Effect of C.424_427del STAT5B Mutation Causing Growth Hormone Insensitivity in the South of Brazil | SCALCO, Renata Da Cunha; FUNARI, Mariana Ferreira de Assis; ARACAVA, Rosana Midori; TONELLI, Carlos Andre; JORGE, Alexander Augusto Lima |
| 2014 | Targeted High-Throughput Sequencing of RAS/MAPK Pathway Genes for Diagnosis of Noonan Syndrome (NS) and Noonan-Related Disorders (NRD) | MALAQUIAS, Alexsandra C.; MORAES, Michelle B.; LERARIO, Antonio M.; TRARBACH, Ericka Barbosa; MITNE-NETO, Miguel; PEREIRA, Alexandre; BERTOLA, Debora R.; TELES, Milena Gurgel; JORGE, Alexander Augusto Lima |
| 2015 | Whole Exome Sequencing Identifies Genetic Causes of Disproportional Short Stature | VASQUES, G.; FUNARI, M.; LERARIO, A.; FREIRE, B.; SHINJO, S.; MARIE, S.; ARNHOLD, I; JORGE, A. |
| 2018 | Genetic Investigation of Children with Syndromic Prenatal Onset Short Stature | HOMMA, 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 |
| 2018 | Genetic Evaluation of Syndromic Short Stature Children Born Small for Gestational Age | HOMMA, 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. |
| 2018 | High Prevalence of Nephrolithiasis and Hypercalciuria in Women with Osteogenesis Imperfecta | SIMOES, Vivian Rf; FERNANDES, Adriana M.; ROCHA-BRAZ, Manuela Gm; MARTIN, Regina M.; FERRAZ-DE-SOUZA, Bruno |
| 2016 | Whole-Exome Sequencing Reveals RAD51B Variant in Two Sisters with Primary Ovarian Failure | FRANCA, Monica; FUNARI, Mariana; NISHI, Mirian; DOMENICE, Sorahia; LATRONICO, Ana Claudia; JORGE, Alexander; LERARIO, Antonio; MENDONCA, Berenice |
| 2017 | MOLECULAR ANALYSIS OF BRAZILIAN PATIENTS WITH COMBINED PITUITARY HORMONE DEFICIENCY (CPHD) AND ORTHOTOPIC POSTERIOR PITUITARY LOBE (OPP) REVEALS 8 DIFFERENT PROP1 ALTERATIONS WITH THREE NOVEL MUTATIONS | MADEIRA, Joao L. O.; NISHI, Mirian Y.; NAKAGUMA, Marilena; BENNEDETTI, Anna F.; BISCOTTO, Isabela P.; FERNANDES, Thamiris; PEQUENO, Thiago; FIGUEIREDO, Thalita; FRANCA, Marcela M.; CORREA, Fernanda A.; OTTO, Aline P.; ABRAO, Milena; MIRAS, Mirta; SANTOS, Silvana; JORGE, Alexander A. L.; COSTALONGA, Everlayny F.; MENDONCA, Berenice B.; ARNHOLD, Ivo J. P.; CARVALHO, Luciani R. |
| 2017 | E74 LIKE ETS TRANSCRIPTION FACTOR 4 ( ELF4) IS A CANDIDATE GENE FOR X- LINKED FAMILIAL ISOLATED GROWTH HORMONE DEFICIENCY BY WHOLE EXOME SEQUENCING | CORREA, Fernanda A.; FANG, Qing; LERARIO, Antonio M.; MA, Qianyi; OZEL, Bilge A.; LI, Jun Z.; JORGE, Alexander A. L.; CARVALHO, Luciani R.; ARNHOLD, Ivo J. P.; CAMPER, Sally A.; MENDONCA, Berenice B. |