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Issue DateTitleAuthor(s)
2017G-CSF Treatment in Stat1 Gain-of-Function Mutation with Chronic Mucocutaneous Candidiasis - Case ReportBARBOSA, P. F. A.; JULIAO, G. S.; SOUZA, N. M. M.; CASTIGLIONI, M.; SANTOS, C. J. N.; CASTRO, A. P. B. M.; DORNA, M. B.; PASTORINO, A. C.; NASCIMENTO-CARVALHO, C. M.
2012Gain-of-function mutations in STAT1: A new molecular cause for patients with chronic mucocutaneous candidiasisDEPNER, M.; WANDERS, J.; STAUSS, H.; JANSSON, A.; DUECKERS, G.; NIEHUES, T.; BAUMANN, U.; PEDERSEN, A. Stray; KILIC, S. S.; ATKINSON, T. P., et al
2018Genetic Evaluation of Syndromic Short Stature Children Born Small for Gestational AgeHOMMA, T.; FREIRE, B.; HONJO, R.; DAUBER, A.; FUNARI, M.; LERARIO, A.; ARNHOLD, I.; CANTON, A.; SUGAYAMA, S.; BERTOLA, D., et al
2018Genetic Investigation of Children with Syndromic Prenatal Onset Short StatureHOMMA, Thais; FREIRE, Bruna; RONJO, Rachel; DAUBER, Andrew; FUNARI, Mariana; LERARIO, Antonio; ARNHOLD, Ivo; CANTON, Ana; SUGAYAMA, Sofia; BERTOLA, Debora, et al
2019Genetic profile of Brazilian patients with nucleotide excision repair deficiencyCASTRO, L. P.; MUNFORD, V.; ANTONIO, T. S.; EZQUINA, S.; MOURA, L.; VALLE, F. F.; BERTOLA, D. R.; LAJUS, T. B. P.; CAMPOS-DO-CARMO, G.; FERREIRA, P. S., et al
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
2017Genomic Studies in Hepatoblastoma: Insight into Somatic Mutations Using Array-CGH Analysis and Whole-Exome SequencingAGUIAR, T.; RODRIGUES, T.; SANTOS, F. A. dos; SOBRAL, J.; COSTA, S. S. da; COSTA, C. M. L. da; CUNHA, I. W. da; CYPRIANO, M.; TOLEDO, S. R. C. de; SOUZA, J. E. S. de, et al
2018Genomic studies of Brazilian patients with hepatoblastoma: Insight into somatic mutations using whole-exome sequencingAGUIAR, Talita F.; RODRIGUES, Tatiane; PRATES, Maria; SANTOS, Fernanda Aparecida dos; FERNANDES, Gustavo; COSTA, Cecilia Maria Lima da; CUNHA, Isabela Werneck da; CYPRIANO, Monica; TOLEDO, Silvia Regina Caminada de; SOUZA, Jorge Estefano S. de, et al
2018Genomic Studies of Brazilian Patients with Hepatoblastoma: Insight Into Somatic Mutations Using Whole-Exome SequencingAGUIAR, T.; RODRIGUES, T.; RIVAS, M.; APARECIDA, F.; FERNANDES, G.; VALIERIS, R.; COSTA, C. M. Lima da; WERNECK, I.; CYPRIANO, M.; TOLEDO, S. Caminada de, et al
2016Getting closer to our patient: Playing, learning and humanizing treatment: An experience of a Brazilian CenterSANDOVAL, Eliane Partite Nobre; CASSIS, Frederica Rose Marie Youssef; VILLACA, Paula Ribeiro; OKAZAKI, Erica; CARNEIRO, Jorge David Avaizoglou; ZEINAD-VALIM, Audrey Kruse; DAMICO, Elbio Antonio
2017GLILD (GRANULOMATOUS LYMPHOCYTIC INTERSTITIAL LUNG DISEASE) TREATMENT IN A PEDIATRIC PATIENT WITH CTLA4 DEFICIENCY: CASE REPORTDORNA, Mayra; SANTOS, Cristiane J. N.; MONTEIRO, Francine Correard; BARBOSA, Pamela Fernanda Alves; AQUILANTE, Bruna; CASTRO, Ana Paula B. Moschione; PASTORINO, Antonio Carlos; CARNEIRO-SAMPAIO, Magda
2012GONADAL TUMOR DETECTION AND TREATMENT IN PATIENTS WITH DISORDER OF SEX DEVELOPMENT (DSD): LONG-TERM ONCOLOGICAL OUTCOMESOLIVEIRA, Lorena; MACHADO, Marcos; MARCHINI, Giovanni; TAVARES, Alessandro; SIRCILI, Maria Helena; DOMENICE, Sorahia; COSTA, Elaine; DENES, Francisco; MENDONCA, Berenice; SROUGI, Miguel
2016Gordon Syndrome in the differencial diagnosis of kidneytubular acidosis-Case report and literature reviewSOUZA, A. M. C.; QUEIROZ, A. F.; VAISBICH, M. H.; CARDOSO, R. L.; KOK, F.
2017Granulocyte Transfusion in Patients with CGD: an Effective Alternative for Severe Refractory InfectionsGERHARDT, C. M. B.; PAIVA, B. M. G. P.; SANTOS, C. J. N.; CASTRO, A. P. B. M.; DORNA, M. B.; PASTORINO, A. C.
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.
2020Haploidentical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Severe Aplastic AnemiaBONFIM, Carmem; ARCURI, Leonardo Javier; NABHAN, Samir; SEBER, Adriana; NICHELE, Samantha; FUNKE, Vaneuza Araujo Moreira; FERNANDES, Juliana Folloni; DAUDT, Liane Esteves; DARRIGO JR., Luiz Guilherme; RODRIGUES, Ana Luiza Melo, et al
2016Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Patients with X-linked Adrenoleukodystrophy: expanding the donor pool in an urgent situationFERNANDES, J.; BONFIM, C.; KERBAUY, F.; RODRIGUES, M.; ALMEIDA, A.; ESTEVES, I.; LOTH, G.; KUWAHARA, C.; BUENO, C.; KONDO, A., et al
2018Health care professionals at haemophilia center and Shelter Institution working together: Case study of a nine-year-old boy with severe haemophilia ACASSIS, Frederica R. M. Y.; SANTOS, Vicenca; SANDOVAL, Eliane P.; VILLACA, Paula R.; CARNEIRO, Jorge D. A.; ROCHA, Vanderson; BERTOLI, Ana Paula; ROSARIO, Clayton Azevedo; CERQUEIRA, Leticia; TEIXEIRA, Vaness C., et al
2020Health-related quality of life in adolescents and young adults (AYA) with inflammatory bowel disease and its correlations with demographic, clinical, laboratory and therapeutic evaluationsOBA, J.; DEBONI, M.; TOMA, R.; SOBRADO, C.; AZEVEDO, M.; CARLOS, A.; BORBA, M.; DAMIAO, A.; CARRILHO, F.; SILVA, C.
2019Health-Related Quality of Life in Brazilian Adolescents and Young Adults (AYA) With Inflammatory Bowel DiseaseOBA, Jane; DEBONI, Mariana; TOMA, Ricardo; SOBRADO, Carlos; BORBA, Marcelo; AZEVEDO, Matheus; CARLOS, Alexandre; QUEIROZ, Natalia; DAMIAO, Aderson; CLOVIS, Artur Silva