CHONG AE KIM
Projetos de Pesquisa
Unidades Organizacionais
Departamento de Pediatria, Faculdade de Medicina - Docente
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina - Líder
LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina
15 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 15
- Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?(2012) BERTOLA, D. R.; PEREIRA, A. C.; BRASIL, A. S.; SUZUKI, L.; LEITE, C.; FALZONI, R.; TANNURI, U.; POPLAWSKI, A. B.; JANOWSKI, K. M.; KIM, C. A.; MESSIAEN, L. M.
- Role of SNAP29, LZTR1 and P2RXL1 genes on immune regulation in a patient with atypical 0.5 Mb deletion in 22q11.2 region(2012) SOARES, Diogo Cordeiro de Queiroz; DUTRA, Roberta Lelis; QUAIO, Caio Robledo D'angioli Costa; MELARAGNO, Maria Isabel; KULIKOWSKI, Leslie Domenici; TORRES, Leuridan Cavalcante; KIM, Chong Ae
- A Possible Role of Different PTPN Genes in Immune Regulation(2012) QUAIO, C. R. D. C.; DUTRA, R. L.; BRASIL, A. S.; PEREIRA, A. C.; KIM, C. A.; BERTOLA, D. R.
- Vertebral segmentation defects in a Brazilian cohort: Clinical and molecular analysis focused on spondylocostal dysostosis(2022) LINNENKAMP, Bianca; GIRARDI, Raissa; ROCHA, Leticia; YAMAMOTO, Guilherme; CERONI, Jose Ricardo; MENDES, Antonia Elisabeth Cristhina; HONJO, Rachel; OLIVEIRA, Luiz Antonio; AMEMIYA, Raphael Bruno; QUAIO, Caio; OLIVEIRA FILHO, Joao Bosco de; KIM, Chong Ae; BERTOLA, Debora
- Multicentric study on the diagnosis of Fabry's disease using angiokeratoma biopsy registries(2015) KELMANN, Samantha Vernaschi; QUAIO, Caio Robledo D'Angioli Costa; HONJO, Rachel Sayuri; BERTOLA, Debora Romeo; ROSA NETO, Nilton Salles; LOURENCO, Charles Marques; D'ALMEIDA, Vania; LELLIS, Rute Facchini; RIVITTI-MACHADO, Maria Cecilia; ENOKIHARA, Milvia Maria Simoes e Silva; MICHALANY, Nilceo S.; KIM, Chong Ae
- De novo pathogenic DHX30 variants in two cases(2021) MIYAKE, Noriko; KIM, Chong Ae; HAGINOYA, Kazuhiro; CASTRO, Matheus Augusto Araujo; HONJO, Rachel Sayruri; MATSUMOTO, Naomichi
- Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome(2020) SOARES, Diogo C.; DANTAS, Anelisa G.; MATTA, Marina C.; PASTORINO, Antonio C.; MELARAGNO, Maria Isabel; KULIKOWSKI, Leslie; MONTENEGRO, Marilia; KIM, Chong A.; CARNEIRO-SAMPAIO, Magda; TORRES, Leuridan C.22q11.2 deletion syndrome (22q11.2DS) has a heterogeneous presentation that includes multiple congenital anomalies and immunodeficiency, one of the most striking features. Usually, it is characterized by T cell lymphopenia, B cell dysfunction and autoimmunity. Here, we describe an unusual case of 22q11.2DS in a patient with lymphoproliferative disorder, polyautoimmunity and hypogammaglobulinemia.
- The Recurrent PPP1CB Mutation p. Pro49Arg in an Additional Noonan- Like Syndrome Individual: Broadening the Clinical Phenotype(2017) BERTOLA, Debora; YAMAMOTO, Guilherme; BUSCARILLI, Michelle; JORGE, Alexander; PASSOS-BUENO, Maria Rita; KIM, ChongWe report on a 12-year-old Brazilian boy with the p.Pro49Arg mutation in PPP1CB, a novel gene associated with RASopathies. This is the fifth individual described, and the fourth presenting the same variant, suggesting a mutational hotspot. Phenotypically, he also showed the same hair pattern-sparse, thin, and with slow growing-, similar to the typical ectodermal finding observed in Noonan syndrome-like disorder with loose anagen hair. Additionally, he presented craniosynostosis, a rare clinical finding in RASopathies. This report gives further support that this novel RASopathy-PPP1CB-related Noonan syndrome with loose anagen hair-shares great similarity to Noonan syndrome-like disorder with loose anagen hair, and expands the phenotypic spectrum by adding the cranial vault abnormality. (C) 2017 Wiley Periodicals, Inc.
- A Dominant ABCC8-Related Hyperinsulinism: Familial Case Report Moreira et al. ABCC8-Related Hyperinsulinism(2013) MOREIRA, M. C.; PIAZZON, F. B.; CARVALHO, M. D. F.; QUAIO, C. R. D. C.; DUTRA, A. B.; CECCON, M. E.; DELLA-MANNA, T.; TANNURI, U.; LEE, J. H.; ZERBINI, M. C. N.; BELLANNE-CHANTELOT, C.; LONLAY, P.; BERTOLA, D. R.; KIM, C. A.
- Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation(2019) BASTOS, Karina Lucio de Medeiros; QUAIO, Caio Robledo; LIMA, Fabiana Roberto; ARAUJO, Iana Manuelle; ARAUJO, Candice Alves Tavares; PIAZZON, Flavia Balbo; SILVA, Ismael Dale Cotrim Guerreiro da; BENEVIDES, Gabriel Nuncio; TANNURI, Ana Cristina; TANNURI, Uenis; AZEVEDO, Ramiro Anthero; KIM, Chong Ae