Comunicações em Eventos - LIM/42

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 142
Issue DateTitleAuthor(s)
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.
2019A NEW INSIGHT FOR THE TREATMENT OF PRIMARY MACRONODULAR ADRENAL HYPERPLASIA: ADRENAL SPARING SURGERY EARLY OUTCOMESTANNO, Fabio; FRAGOSO, Maria Candida B. V.; SROUGI, Victor; ALMEIDA, Madson Queiroz; MENDONCA, Berenice Bilharinho; YAMAUCHI, Fernando Ide; MORBECK, Fernando; NAHAS, Willian Carlos; SROUGI, Miguel; CHAMBO, Jose Luis
2020Acute coronary syndrome as an atypical presentation of pheochromocytomaSCOPEL, Gabriela da Silva; NASCIMENTOL, Andre Luiz Kummer Hora; MARQUES, Francisco Berth Marinho; BARROSO, Natalia Duarte; FURQUIM, Silas Ramos; ALMEIDA, Madson Q.; BORTOLOTTO, Luiz Aparecido
2020REGRESSION OF SEVERE LEFT VENTRICLE HYPERTROPHY AFTER MEDICAL TREATMENT OF GLUCOCORTICOID-SUPPRESSIBLE PRIMARY ALDOSTERONISMBORTOLOTTO, Luiz Aparecido; SIMAO, Raif R.; AGRELA, Marcus; ALMEIDA, Madson Q.; FRAGOSO, Maria C. B. V.
2020Adrenal Cystic Lesions of Lymphatic Origin: A Clinical and Pathological Study of 6 New Cases and Systematic Literature ReviewMARQUES-PIUBELLI, Mario; POMA-GONZALEZ, Eloiza; BALANCIN, Marcelo; GONCALVES, Victor; BOTELHO, Maria Luiza; FRAGOSO, Maria; ZERBINI, Maria
2020Adrenal Cystic Lesions of Lymphatic Origin: A Clinical and Pathological Study of 6 New Cases and Systematic Literature ReviewMARQUES-PIUBELLI, Mario; POMA-GONZALEZ, Eloiza; BALANCIN, Marcelo; GONCALVES, Victor; BOTELHO, Maria Luiza; FRAGOSO, Maria; ZERBINI, Maria
2019Development Of An International Benchmark For Sick Day Episodes As A Core Clinical Outcome In People With Congenital Adrenal HyperplasiaALI, Salma; DANIEL, Eleni; BRYCE, Jillian; IKIROMA, Adalia; LEWSEY, James; ROSS, Richard; KRONE, Ruth; ACERINI, Carlo; KRONE, Nils; DAS, Urmi, et al
2019Influence of salt supplementation on drug therapy in children with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency aged 0-3 years: Update on a retrospective multicentre analysis using the I-CAH registryNEUMANN, Uta; LINDE, Annelieke van der; KRONE, Ruth; GUVEN, Ayla; GURAN, Tulay; ELSEDFY, Heba; DARENDELILER, Feyza; BACHEGA, Tania; BALSAMO, Antonio; HANNEMA, Sabine, et al
2019Clinical and Genetic Aspects of Pediatric Pheochromocytomas and ParagangliomasGUIMARAES, A. G.; PETENUCI, J.; BENEDETTI, A. F.; FAGUNDES, G. F. C.; PEREIRA, M. A.; ZERBINI, M. N.; YAMAUCHI, F.; SROUGI, V; TANNO, F. Y.; CHAMBO, J. L., et al
2019PREVALENCE AND INFLUENCE OF ""PATATIN-LIKE PHOSPHOLIPASE DOMAIN CONTAINING 3"" (PNPLA3) GENE POLYMORPHISM ON SUSCEPTIBILITY TO NON-ALCOHOLIC FATTY LIVER DISEASE IN PATIENTS WITH POLYCYSTIC OVARY SYNDROMERECUERO, Amanda Medeiros; MALTA, Fernanda; STEFANO, Jose Tadeu; VEZOZZO, Denise Paranagua; GOMES, Larissa Garcia; MACIEL, Gustavo Arantes Rosa; BARACAT, Edmund; CASSENOTE, Alex Jones Flores; PINHO, Joao Renato R.; CARRILHO, Flair J., et al
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
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.
2019An Extremely Rare Novel Missense Variant p.M304V in SOX3 Gene is Responsible for an X-Linked GH Deficiency in a Brazilian PatientBENEDETTI, A. F. F.; SILVA, J. M.; BISCOTTO, I. P.; FERREIRA, N. P.; ARNHOLD, I. J. P.; MENDONCA, B. B.; CARVALHO, L. R. S.
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.
2019Long-Term Outcome In Leydig Cell HypoplasiaBONCOMPAGNI, Alessandra; BRYCE, Jillian; LUCACCIONI, Laura; IUGHETTI, Lorenzo; ACERINI, Carlo; CUCCARO, Rieko T.; BERTELLONI, Silvano; HANNEMA, Sabine E.; DARENDELILER, F. Feyza; POYRAZOGLU, Sukran, et al
2019Global Practice of Glucocorticoid and Mineralocorticoid Treatment in Children and Adults with Congenital Adrenal Hyperplasia - Insights from the I-CAH RegistryBACILA, Irina-Alexandra; BLANKENSTEIN, Oliver; NEUMANN, Uta; GRINTEN, Hedi L. Claahsen-van der; KRONE, Ruth; ACERINI, Carlo; BACHEGA, Tania S. S.; MIRANDA, Mirella C.; MENDONCA, Berenice; BIRKEBAEK, Niels H., et al
2019Large spectrum of DSD phenotype caused by pathogenic variants in Wilms tumor suppressor gene 1FERRARI, Maria Tereza Martins; DOMENICE, Sorahia; MENDONCA, Berenice Bilharino; MORAES, Daniela Rodrigues; BATISTA, Rafael Loch; GOMES, Nathalia Lisboa; NISHI, Mirian Yumie; SIRCILI, Maria Helena; PAULA, Tatiana Evelin; COSTA, Eduardo, et al
2019Final adult height in SRY-negative 46, XX ovotesticular differences of sex development individualsFERRARI, Maria Tereza Martins; RODRIGUES, Daniela Moraes; GOMES, Nathalia Lisboa; NISHI, Mirian Yumi; BATISTA, Rafael Loch; COSTA, Elaine Maria Frade; MENDONCA, Berenice Bilharinho; DOMENICE, Sorahia; CRUZ, Patricia Sales Marques; SIRCILI, Maria Helena
Collection's Items (Sorted by Submit Date in Descending order): 1 to 20 of 142