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Results 1-10 of 86 (Search time: 0.004 seconds).
Issue DateTitleAuthor(s)
2016The Frequency of Pathogenic Copy Number Variants in Children with Short Stature of Unknown EtiologyCANTON, A.; HOMMA, T.; FURUYA, T.; ROELA, R.; ARNHOLD, I; JORGE, A.
2017Influence of UCP3 gene polymorphisms on metabolic syndrome and cardiovascular risk in patients with in non-alcoholic fatty liver diseaseTODA, K. S.; STEFANO, J. T.; COSTA, F. B.; CAVALEIRO, A. M.; MAZO, D. F.; CARRILHO, F. J.; CORREA-GIANNELLA, M. L.; OLIVEIRA, C. P.
2019Probably Pathogenic Variants in New Candidate Genes in Patients with Pituitary Stalk Interruption Syndrome (PSIS) Revealed by Whole-Exome SequencingCORREA, 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.
2019Low Frequency of Pathogenic Allelic Variants in the 46,XY Differences of Sex Development (DSD)-Related Genes in Small for Gestational Age Children with HypospadiasBRAGA, 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.
2018A novel mutation in PROP1 c.109+1G > A identified by target gene panel in patients with congenital growth hormone deficiencyNAKAGUMA, M.; JORGE, A. A. L.; FUNARI, M. F. A.; LERARIO, A. M.; CORREA, F. A.; CARVALHO, L. R. S.; ARNHOLD, I. J. P.
2019Clinical and Genetic Evaluation of Prepubertal Children with Short Stature and Advanced Bone AgeVASQUES, 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.
2014SELECTIVE INHIBITION OF PROTEASOMAL AND LYSOSOMAL DEGRADATION PATHWAYS PARTIALLY PREVENT ABCA-1 REDUCTION IN MACROPHAGES INDUCED BY ADVANCED GLYCATED ALBUMINIBORRA, R. T.; MACHADO-LIM, A.; OKUDA, L. S.; MACHADO, J. T.; NEVES, M. Q.; CORREA-GIANNELLA, M. L.; NAKANDAKARE, E. R.; PASSARELLI, M.
2019Evaluation of puberty in patients with Noonan syndrome and mutations in the RAS/MAPK genesMALAQUIAS, Alexsandra C.; NORONHA, Renata M.; HOMMA, Thais K.; ALBUQUERQUE, Edoarda V. A.; BERTOLA, Debora R.; JORGE, Alexander A. L.
2019Clinical and Genetic Characterization of a Constitutional Delay of Growth and Puberty CohortBARROSO, 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.
2019Combining 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