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Results 1-10 of 21 (Search time: 0.069 seconds).
| Issue Date | Title | Author(s) |
|---|---|---|
| 2018 | Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing | CARVALHO, 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 |
| 2019 | Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR | NAKAGUMA, 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. |
| 2018 | Novel SUZ12 mutations in Weaver-like syndrome | IMAGAWA, Eri; ALBUQUERQUE, Edoarda V. A.; ISIDOR, Bertrand; MITSUHASHI, Satomi; MIZUGUCHI, Takeshi; MIYATAKE, Satoko; TAKATA, Atsushi; MIYAKE, Noriko; BOGUSZEWSKI, Margaret C. S.; BOGUSZEWSKI, Cesar L.; LERARIO, Antonio M.; FUNARI, Mariana A.; JORGE, Alexander A. L.; MATSUMOTO, Naomichi |
| 2018 | Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients | FREIRE, Bruna L.; HOMMA, Thais K.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; LEAL, Aline M.; VELLOSO, Elvira D. R. P.; MALAQUIAS, Alexsandra C.; JORGE, Alexander A. L. |
| 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. |
| 2019 | Two rare loss-of-function variants in the STAG3 gene leading to primary ovarian insufficiency | FRANCA, Monica M.; NISHI, Mirian Y.; FUNARI, Mariana F. A.; LERARIO, Antonio M.; BARACAT, Edmund C.; HAYASHIDA, Sylvia A. Y.; MACIEL, Gustavo A. R.; JORGE, Alexander A. L.; MENDONCA, Berenice B. |
| 2018 | Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature | HISADO-OLIVA, Alfonso; RUZAFA-MARTIN, Alba; SENTCHORDI, Lucia; FUNARI, Mariana F. A.; BEZANILLA-LOPEZ, Carolina; ALONSO-BERNALDEZ, Marta; BARRAZA-GARCIA, Jimena; RODRIGUEZ-ZABALA, Maria; LERARIO, Antonio M.; BENITO-SANZ, Sara; AZA-CARMONA, Miriam; CAMPOS-BARROS, Angel; JORGE, Alexander A. L.; HEATH, Karen E. |
| 2019 | Evaluation of SHOX defects in the era of next-generation sequencing | FUNARI, Mariana F. A.; BARROS, Juliana S. de; SANTANA, Lucas S.; LERARIO, Antonio M.; FREIRE, Bruna L.; HOMMA, Thais K.; VASQUES, Gabriela A.; MENDONCA, Berenice B.; NISHI, Mirian Y.; JORGE, Alexander A. L. |
| 2018 | Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes | CORREA, Fernanda A.; JORGE, Alexander A. L.; NAKAGUMA, Marilena; CANTON, Ana P. M.; COSTA, Silvia S.; FUNARI, Mariana F.; LERARIO, Antonio M.; FRANCA, Marcela M.; CARVALHO, Luciani R.; KREPISCHI, Ana C. V.; ARNHOLD, Ivo J. P.; ROSENBERG, Carla; MENDONCA, Berenice B. |
| 2020 | Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature | HOMMA, Thais K.; FREIRE, Bruna L.; HONJO, Rachel; DAUBER, Andrew; FUNARI, Mariana F. A.; LERARIO, Antonio M.; ALBUQUERQUE, Edoarda V. A.; VASQUES, Gabriela A.; BERTOLA, Debora R.; KIM, Chong A.; MALAQUIAS, Alexsandra C.; JORGE, Alexander A. L. |