Comunicações em Eventos - LIM/25

A coleção de Comunicações em Eventos compreende trabalhos completos ou resumos de conferências, comunicações orais ou posteres, apresentados em congressos, seminários, jornadas, simpósios ou outros tipos de eventos de caráter técnico-científico ou artístico-cultural, publicados em anais impressos ou em meios eletrônicos.

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Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 89
Issue DateTitleAuthor(s)
2014Characterization of Glycated Albumin Isolated From Poorly Controlled Diabetic Patients and Its Role in Macrophage Cholesterol EffluxMACHADO-LIMA, Adriana; OLIVEIRA, Erika R.; IBORRA, Rodrigo T.; CASTILHO, Gabriela; NAKANDAKARE, Edna R.; CORREA-GIANNELLA, Maria Lucia C.; TRALDI, Pietro; PORCU, Simona; ROVERSO, Marco; LAPOLLA, Annunziata, et al
2021Characterization of puberty development in a large cohort of patients with Noonan syndrome with molecular diagnosisREZENDE, Raissa; JORGE, Alexander; NORONHA, Renata; KESELMAN, Ana; ANDRADE, Nathalia; DANTAS, Naiara; BERTOLA, Debora; MALAQUIAS, Alexsandra
2021Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation statusJORGE, Alexander A. L.; PIETROPOLI, Alberto; KELEPOURIS, Nicky; HORIKAWA, Reiko
2021POTENTIALLY PATHOGENIC VARIANTS IDENTIFIED BY NEXT- GENERATION SEQUENCING IN PATIENTS WITH SHORT STATURE OF UNKNOWN ORIGINSANGUINETI, Nora Maria; SCAGLIA, Paula; KESELMAN, Ana; CASALI, Barbara; BRASLAVSKY, Debora; GUTIERREZ, Mariana; RAMIREZ, Laura; LANDI, Estefania; ROPELATO, Maria Gabriela; BALLERINI, Maria Gabriela, et al
2021Prenatal diagnosis of TBC1D32-associated disease by exome sequencing: Further evidence of a new syndromeHARRIS, Sarah C.; GILMORE, Kelly L.; DAVIS, Erica E.; JORGE, Alexander; FREIRE, Bruna; LERARIO, Antonio; VORA, Neeta L.
2019Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK GenesMALAQUIAS, A. C.; NORONHA, R. M.; HOMMA, T. K.; ALBUQUERQUE, E. V. A.; VASQUES, G. A.; BERTOLA, D. R.; JORGE, A. A. L.
2020Characterization of Pediatric Chronic Lung Disease Caused by Mutations in Signal Transducer and Activator of Transcription 5B (STAT5B)FOLEY, C.; SCALCO, R.; KUMAR, A.; TOWE, C.; SRIDHARAN, A.; TRAPNELL, B. C.; WHITSETT, J. A.; WIKENHEISER-BROKAMP, K. A.; JORGE, A.; HWA, V.
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., et al
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.
2019Response to rhGH Therapy in Children with Isolated Short Stature with or without an Identified Genetic CauseANDRADE, N. L. M.; VASQUES, G. A.; FUNARI, M. F. A.; MENCONCA, B. B.; JORGE, A. A. L.
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.
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, et al
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.
2014Clinical Features and Penetrance of Pheochromocytoma in a Large Family with a Germline TMEM127 MutationLOURENCO, Delmar Muniz; TOLEDO, Rodrigo A.; SEKIYA, Tomoko; LUCON, Marmo; CASTRO, C. C.; BORTOLOTTO, L. A.; TOLEDO, Sergio P. A.; DAHIA, Patricia L.
2017GENOMIC APPROACHES TO INVESTIGATE CHILDREN BORN SMALL FOR GESTATIONAL AGE (SGA) WITHOUT CATCH UP-GROWTHHOMMA, Thais K.; FREIRE, Bruna; FUNARI, Mariana; MALAQUIAS, Alexsandra; RONJO, Rachel; VASQUES, Gabriela; CANTON, Ana; KIM, Chong; BERTOLA, Debora; JORGE, Alexander
2017GROWTH HORMONE (GH) THERAPY IMPROVES ADULT HEIGHT IN CHILDREN WITH NOONAN SYNDROME AND IDENTIFIED MUTATIONS IN PTPN11 GENENORONHA, Renata M.; HOMMA, Thais K.; SOUZA, Thaiana T.; FUNARI, Mariana; PEREIRA, Alexandre C.; BERTOLA, Debora; JORGE, Alexander; MALAQUIAS, Alexsandra C.
2016Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic SpectrumGKOUROGIANNI, Alexandra; ANDREW, Melissa; CROCKER, Melissa; DUNBAR, Nancy; JORGE, Alexander; LAFRANCHI, Stephen; LALANI, Seema; LEBL, Jan; LIN, Lynda; LOS, Evan, et al
2017ALTERNATIVE TREATMENT OF MULTIPLE GIANT CELL LESIONS (MGCL) IN TWO BOYS WITH NOONAN SYNDROME (NS)ORTEGOSA, Marcio V.; FARIA, Maria Estela J.; ROCHA, Andre C.; JORGE, Alexander; MALAQUIAS, Alexsandra C.
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 89