Comunicações em Eventos - LIM/25
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Collection's Items (Sorted by Submit Date in Descending order): 21 to 40 of 109
| Issue Date | Title | Author(s) |
|---|---|---|
| 2014 | Characterization of Glycated Albumin Isolated From Poorly Controlled Diabetic Patients and Its Role in Macrophage Cholesterol Efflux | MACHADO-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 |
| 2021 | Characterization of puberty development in a large cohort of patients with Noonan syndrome with molecular diagnosis | REZENDE, Raissa; JORGE, Alexander; NORONHA, Renata; KESELMAN, Ana; ANDRADE, Nathalia; DANTAS, Naiara; BERTOLA, Debora; MALAQUIAS, Alexsandra |
| 2021 | Outcomes in growth hormone-treated Noonan syndrome children: impact of PTPN11 mutation status | JORGE, Alexander A. L.; PIETROPOLI, Alberto; KELEPOURIS, Nicky; HORIKAWA, Reiko |
| 2021 | POTENTIALLY PATHOGENIC VARIANTS IDENTIFIED BY NEXT- GENERATION SEQUENCING IN PATIENTS WITH SHORT STATURE OF UNKNOWN ORIGIN | SANGUINETI, Nora Maria; SCAGLIA, Paula; KESELMAN, Ana; CASALI, Barbara; BRASLAVSKY, Debora; GUTIERREZ, Mariana; RAMIREZ, Laura; LANDI, Estefania; ROPELATO, Maria Gabriela; BALLERINI, Maria Gabriela, et al |
| 2021 | Prenatal diagnosis of TBC1D32-associated disease by exome sequencing: Further evidence of a new syndrome | HARRIS, Sarah C.; GILMORE, Kelly L.; DAVIS, Erica E.; JORGE, Alexander; FREIRE, Bruna; LERARIO, Antonio; VORA, Neeta L. |
| 2019 | Evaluation of Puberty in Patients with Noonan Syndrome and Mutations in the RAS/MAPK Genes | MALAQUIAS, A. C.; NORONHA, R. M.; HOMMA, T. K.; ALBUQUERQUE, E. V. A.; VASQUES, G. A.; BERTOLA, D. R.; JORGE, A. A. L. |
| 2020 | Characterization 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. |
| 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., et al |
| 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 | Response to rhGH Therapy in Children with Isolated Short Stature with or without an Identified Genetic Cause | ANDRADE, N. L. M.; VASQUES, G. A.; FUNARI, M. F. A.; MENCONCA, B. B.; JORGE, A. A. L. |
| 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. |
| 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, et al |
| 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. |
| 2014 | Clinical Features and Penetrance of Pheochromocytoma in a Large Family with a Germline TMEM127 Mutation | LOURENCO, Delmar Muniz; TOLEDO, Rodrigo A.; SEKIYA, Tomoko; LUCON, Marmo; CASTRO, C. C.; BORTOLOTTO, L. A.; TOLEDO, Sergio P. A.; DAHIA, Patricia L. |
| 2017 | GENOMIC APPROACHES TO INVESTIGATE CHILDREN BORN SMALL FOR GESTATIONAL AGE (SGA) WITHOUT CATCH UP-GROWTH | HOMMA, Thais K.; FREIRE, Bruna; FUNARI, Mariana; MALAQUIAS, Alexsandra; RONJO, Rachel; VASQUES, Gabriela; CANTON, Ana; KIM, Chong; BERTOLA, Debora; JORGE, Alexander |
| 2017 | GROWTH HORMONE (GH) THERAPY IMPROVES ADULT HEIGHT IN CHILDREN WITH NOONAN SYNDROME AND IDENTIFIED MUTATIONS IN PTPN11 GENE | NORONHA, Renata M.; HOMMA, Thais K.; SOUZA, Thaiana T.; FUNARI, Mariana; PEREIRA, Alexandre C.; BERTOLA, Debora; JORGE, Alexander; MALAQUIAS, Alexsandra C. |
| 2016 | Clinical Characterization of Children with Autosomal Dominant Short Stature due to Aggrecan Mutations Broadens the Phenotypic Spectrum | GKOUROGIANNI, Alexandra; ANDREW, Melissa; CROCKER, Melissa; DUNBAR, Nancy; JORGE, Alexander; LAFRANCHI, Stephen; LALANI, Seema; LEBL, Jan; LIN, Lynda; LOS, Evan, et al |
| 2017 | ALTERNATIVE 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): 21 to 40 of 109
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