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Issue Date | Title | Author(s) |
---|---|---|
2016 | The Frequency of Pathogenic Copy Number Variants in Children with Short Stature of Unknown Etiology | CANTON, A.; HOMMA, T.; FURUYA, T.; ROELA, R.; ARNHOLD, I; JORGE, A. |
2017 | Influence of UCP3 gene polymorphisms on metabolic syndrome and cardiovascular risk in patients with in non-alcoholic fatty liver disease | TODA, K. S.; STEFANO, J. T.; COSTA, F. B.; CAVALEIRO, A. M.; MAZO, D. F.; CARRILHO, F. J.; CORREA-GIANNELLA, M. L.; OLIVEIRA, C. P. |
2019 | Probably Pathogenic Variants in New Candidate Genes in Patients with Pituitary Stalk Interruption Syndrome (PSIS) Revealed by Whole-Exome Sequencing | CORREA, F. A.; NAKAGUMA, M.; JORGE, A. A. L.; FUNARI, M. F. A.; LERARIO, A. M.; CARVALHO, L. R. S.; ARNHOLD, I. J. P.; MENDONCA, B. B. |
2019 | Low Frequency of Pathogenic Allelic Variants in the 46,XY Differences of Sex Development (DSD)-Related Genes in Small for Gestational Age Children with Hypospadias | BRAGA, B. L.; GOMES, L. N.; NISHI, M. Y.; FREIRE, B. L.; BATISTA, R. L.; FUNARI, M. F. A.; COSTA, E. M. F.; LERARIO, A. M.; DOMENICE, S.; JUNIOR, J. A. D. F.; JORGE, A. A. L.; MENDONCA, B. B. |
2018 | A novel mutation in PROP1 c.109+1G > A identified by target gene panel in patients with congenital growth hormone deficiency | NAKAGUMA, M.; JORGE, A. A. L.; FUNARI, M. F. A.; LERARIO, A. M.; CORREA, F. A.; CARVALHO, L. R. S.; ARNHOLD, I. J. P. |
2019 | Clinical and Genetic Evaluation of Prepubertal Children with Short Stature and Advanced Bone Age | VASQUES, G. A.; ANDRADE, N. L. M.; FUNARI, M. F. A.; HOMMA, T. K.; FREIRE, B. L.; NISHI, M. Y.; MALAQUIAS, A. C.; MENDONCA, B. B.; ARNHOLD, I. J. P.; JORGE, A. A. L. |
2014 | SELECTIVE INHIBITION OF PROTEASOMAL AND LYSOSOMAL DEGRADATION PATHWAYS PARTIALLY PREVENT ABCA-1 REDUCTION IN MACROPHAGES INDUCED BY ADVANCED GLYCATED ALBUMIN | IBORRA, R. T.; MACHADO-LIM, A.; OKUDA, L. S.; MACHADO, J. T.; NEVES, M. Q.; CORREA-GIANNELLA, M. L.; NAKANDAKARE, E. R.; PASSARELLI, M. |
2019 | Evaluation of puberty in patients with Noonan syndrome and mutations in the RAS/MAPK genes | MALAQUIAS, Alexsandra C.; NORONHA, Renata M.; HOMMA, Thais K.; ALBUQUERQUE, Edoarda V. A.; BERTOLA, Debora R.; JORGE, Alexander A. L. |
2019 | Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty Cohort | BARROSO, P. S.; JORGE, A. A. L.; LERARIO, A. M.; MONTENEGRO, L. R.; LIMA-AMATO, L. R.; VASQUES, G. A.; SILVEIRA, L. F. G.; MENDONCA, B. B.; LATRONICO, A. C. |
2019 | Combining clinical and genetic approaches in diagnosing a large Brazilian cohort of patients with 46, XY Differences of Sex Development (DSD) | GOMES, Nathalia Lisboa; BATISTA, Rafael Loch; NISHI, Mirian Y.; LERARIO, Antonio Marcondes; SILVA, Tatiane E.; FUNARI, Mariana; FARIA JUNIOR, Jose Antonio Diniz; SILVA, Daniela Moraes; MONTENEGRO, Luciana; COSTA, Elaine Maria Frade; JORGE, Alexander Augusto; DOMENICE, Sorahia; MENDONCA, Berenice Bilharinho |