DEBORA ROMEO BERTOLA
Projetos de Pesquisa
Unidades Organizacionais
Instituto da Criança, Hospital das Clínicas, Faculdade de Medicina - Médico
BIO, IB
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
BIO, IB
LIM/36 - Laboratório de Pediatria Clínica, Hospital das Clínicas, Faculdade de Medicina
13 resultados
Resultados de Busca
Agora exibindo 1 - 10 de 13
- 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.
- Six Additional Cases of SEDC Due to the Same and Recurrent R989C Mutation in the COL2A1 Gene-the Clinical and Radiological Follow-up(2015) SILVEIRA, Karina C.; BONADIA, Luciana C.; SUPERTI-FURGA, Andrea; BERTOLA, Debora R.; JORGE, Alexander A. L.; CAVALCANTI, Denise P.
- Additional Thoughts About Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis(2012) DENADAI, Rafael; BERTOLA, Debora Romeo; STELINI, Rafael Fantelli; RAPOSO-AMARAL, Cassio Eduardo
- 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.
- Systemic hyalinosis: new terminology, severity grading system, and surgical approach(2012) DENADAI, Rafael; BERTOLA, Debora Romeo; RAPOSO-AMARAL, Cassio Eduardo
- 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
- A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation(2023) DANGONI, Gustavo Dib; TEIXEIRA, Anne Caroline Barbosa; AGUIAR, Talita Ferreira; SUGAYAMA, Sofia Mizuho Miura; FILHO, Vicente Odone; BERTOLA, Debora Romeo; KREPISCHI, Ana Cristina Victorino
- Hyaline fibromatosis syndrome: New unifying term and surgical approach(2012) DENADAI, Rafael; BERTOLA, Debora Romeo; RAPOSO-AMARAL, Cassio Eduardo
- 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.