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Results 1-10 of 28 (Search time: 0.126 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2019 | Impact of Growth Hormone Therapy on Adult Height in Patients with PTPN11 Mutations Related to Noonan Syndrome | MALAQUIAS, 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. |
| 2012 | Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies | QUAIO, Caio R. D. C.; CARVALHO, Jozelio F.; SILVA, Clovis A. da; BUENO, Cleonice; BRASIL, Amanda S.; PEREIRA, Alexandre C.; JORGE, Alexander A. L.; MALAQUIAS, Alexsandra C.; KIM, Chong A.; BERTOLA, Debora R. |
| 2012 | Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway | MALAQUIAS, Alexsandra C.; BRASIL, Amanda S.; PEREIRA, Alexandre C.; ARNHOLD, Ivo J. P.; MENDONCA, Berenice B.; BERTOLA, Debora R.; JORGE, Alexander A. L. |
| 2012 | KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: Report of another family with metopic craniosynostosis | BRASIL, Amanda S.; MALAQUIAS, Alexsandra C.; KIM, Chong A.; KRIEGER, Jose Eduardo; JORGE, Alexander A. L.; PEREIRA, Alexandre C.; BERTOLA, Debora R. |
| 2018 | Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause | HOMMA, Thais K.; KREPISCHI, Ana C. V.; FURUYA, Tatiane K.; HONJO, Rachel S.; MALAQUIAS, Alexsandra C.; BERTOLA, Debora R.; COSTA, Silvia S.; CANTON, Ana P.; ROELA, Rosimeire A.; FREIRE, Bruna L.; KIM, Chong A.; ROSENBERG, Carla; JORGE, Alexander A. L. |
| 2020 | Genetic investigation of patients with tall stature | ALBUQUERQUE, Edoarda Vasco de Albuquerque; FUNARI, Mariana Ferreira de Assis; QUEDAS, Elisangela Pereira de Souza; KAWAHIRA, Rachel Sayuri Honjo; JALLAD, Raquel Soares; HOMMA, Thais Kataoka; MARTIN, Regina Matsunaga; BRITO, Vinicius Nahime; MALAQUIAS, Alexsandra Christianne; LERARIO, Antonio Marcondes; ROSENBERG, Carla; KREPISCHI, Ana Cristina Victorino; KIM, Chong Ae; ARNHOLD, Ivo Jorge Prado; JORGE, Alexander Augusto de Lima |
| 2018 | IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy | VASQUES, Gabriela A.; FUNARI, Mariana F. A.; FERREIRA, Frederico M.; AZA-CARMONA, Miriam; SENTCHORDI-MONTANE, Lucia; BARRAZA-GARCIA, Jimena; LERARIO, Antonio M.; YAMAMOTO, Guilherme L.; NASLAVSKY, Michel S.; DUARTE, Yeda A. O.; BERTOLA, Debora R.; HEATH, Karen E.; JORGE, Alexander A. L. |
| 2016 | BLM germline and somatic PKMYT1 and AHCY mutations: Genetic variations beyond MYCN and prognosis in neuroblastoma | NOVAK, E. M.; HALLEY, N. S.; GIMENEZ, T. M.; RANGEL-SANTOS, A.; AZAMBUJA, A. M. P.; BRUMATTI, M.; PEREIRA, P. L.; VINCE, C. S. C.; GIORGI, R. R.; BENDITE, I.; CRISTOFANI, L. M.; ODONE-FILHO, V. |
| 2011 | Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities | MENEZES FILHO, Hamilton Cabral de; MARUI, Suemi; MANNA, Thais Della; BRUST, Ester Saraiva; RADONSKY, Vanessa; KUPERMAN, Hilton; DICHTCHEKENIAN, Vae; SETIAN, Nuvarte; DAMIANI, Durval |
| 2017 | The Recurrent PPP1CB Mutation p. Pro49Arg in an Additional Noonan- Like Syndrome Individual: Broadening the Clinical Phenotype | BERTOLA, Debora; YAMAMOTO, Guilherme; BUSCARILLI, Michelle; JORGE, Alexander; PASSOS-BUENO, Maria Rita; KIM, Chong |