ReP USP - Resultado da busca

Artigo de periodico
A decade of whole-exome sequencing in brazilian neurology: from past insights to future perspectives (2025)
Quaio, Caio Robledo D'Angioli Costa ; Silva, Thiago Yoshinaga Tonholo; Barsottini, Orlando G.; Camargos, Sarah Teixeira; Franca, Marcondes C.; Saute, Jonas A.; Marques, Wilson ; Kok, Fernando ; Pedroso, José Luiz
Source: Arquivos de Neuro-Psiquiatria. Unidade: FM
Subjects: SEQUENCIAMENTO GENÉTICO, MANIFESTAÇÕES NEUROLÓGICAS, TÉCNICAS DE DIAGNÓSTICO MOLECULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
QUAIO, Caio Robledo D'Angioli Costa et al. A decade of whole-exome sequencing in brazilian neurology: from past insights to future perspectives. Arquivos de Neuro-Psiquiatria, v. 83, n. 04, p. 8-14, 2025Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/87220. Acesso em: 26 abr. 2026.
APA
Quaio, C. R. D. 'A. C., Silva, T. Y. T., Barsottini, O. G., Camargos, S. T., Franca, M. C., Saute, J. A., et al. (2025). A decade of whole-exome sequencing in brazilian neurology: from past insights to future perspectives. Arquivos de Neuro-Psiquiatria, 83( 04), 8-14. doi:10.1055/s-0045-1807715
NLM
Quaio CRD'AC, Silva TYT, Barsottini OG, Camargos ST, Franca MC, Saute JA, Marques W, Kok F, Pedroso JL. A decade of whole-exome sequencing in brazilian neurology: from past insights to future perspectives [Internet]. Arquivos de Neuro-Psiquiatria. 2025 ; 83( 04): 8-14.[citado 2026 abr. 26 ] Available from: https://observatorio.fm.usp.br/handle/OPI/87220
Vancouver
Quaio CRD'AC, Silva TYT, Barsottini OG, Camargos ST, Franca MC, Saute JA, Marques W, Kok F, Pedroso JL. A decade of whole-exome sequencing in brazilian neurology: from past insights to future perspectives [Internet]. Arquivos de Neuro-Psiquiatria. 2025 ; 83( 04): 8-14.[citado 2026 abr. 26 ] Available from: https://observatorio.fm.usp.br/handle/OPI/87220
Artigo de periodico
Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP) (2024)
Fernandes, Fábio ; Luzuriaga, Georgina del Cisne Jadán ; Fonseca, Guilherme Wesley Peixoto da ; Correia, Edileide de Barros ; Macedo, Ariane Vieira Scarlatelli ; Coelho-Filho, Otavio Rizzi ; Scheinberg, Phillip; Antunes, Murillo Oliveira; Schwartzmann, Pedro Vellosa ; Mangini, Sandrigo ; Marques, Wilson ; Simões, Marcus Vinícius
Source: Orphanet Journal of Rare Diseases. Unidades: FM, EEFE, FMRP
Subjects: CARDIOPATIAS, AMILOIDOSE, DOENÇAS DO SISTEMA NERVOSO PERIFÉRICO, EPIDEMIOLOGIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
FERNANDES, Fábio et al. Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP). Orphanet Journal of Rare Diseases, v. 19, 2024Tradução . . Disponível em: https://doi.org/10.1186/s13023-024-03281-z. Acesso em: 26 abr. 2026.
APA
Fernandes, F., Luzuriaga, G. del C. J., Fonseca, G. W. P. da, Correia, E. de B., Macedo, A. V. S., Coelho-Filho, O. R., et al. (2024). Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP). Orphanet Journal of Rare Diseases, 19. doi:10.1186/s13023-024-03281-z
NLM
Fernandes F, Luzuriaga G del CJ, Fonseca GWP da, Correia E de B, Macedo AVS, Coelho-Filho OR, Scheinberg P, Antunes MO, Schwartzmann PV, Mangini S, Marques W, Simões MV. Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP) [Internet]. Orphanet Journal of Rare Diseases. 2024 ; 19[citado 2026 abr. 26 ] Available from: https://doi.org/10.1186/s13023-024-03281-z
Vancouver
Fernandes F, Luzuriaga G del CJ, Fonseca GWP da, Correia E de B, Macedo AVS, Coelho-Filho OR, Scheinberg P, Antunes MO, Schwartzmann PV, Mangini S, Marques W, Simões MV. Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP) [Internet]. Orphanet Journal of Rare Diseases. 2024 ; 19[citado 2026 abr. 26 ] Available from: https://doi.org/10.1186/s13023-024-03281-z
Trabalho de evento-resumo periodico
Loss of function, loss of pain?: novel variants in SCN9A to explain congenital insensitivity to pain in three brazilian cases (4899) (2021)
Cintra, Vívian Pedigone; Dohrn, Maike; Tomaselli, Pedro José ; Figueiredo, Fernanda Barbosa ; Marques, Sandra Elisabete; Rebelo, Adriana; Abreu, Lisa; Danzi, Matt; Zuchner, Stephan; Marques, Wilson
Source: Neurology. Conference titles: AAN Annual Meeting (Virtual). Unidade: FMRP
Subjects: DOR, DOENÇAS RARAS, DOENÇAS GENÉTICAS, PERCEPÇÃO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CINTRA, Vívian Pedigone et al. Loss of function, loss of pain?: novel variants in SCN9A to explain congenital insensitivity to pain in three brazilian cases (4899). Neurology. Philadelphia: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. Disponível em: https://doi.org/10.1212/WNL.96.15_supplement.4899. Acesso em: 26 abr. 2026. , 2021
APA
Cintra, V. P., Dohrn, M., Tomaselli, P. J., Figueiredo, F. B., Marques, S. E., Rebelo, A., et al. (2021). Loss of function, loss of pain?: novel variants in SCN9A to explain congenital insensitivity to pain in three brazilian cases (4899). Neurology. Philadelphia: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. doi:10.1212/WNL.96.15_supplement.4899
NLM
Cintra VP, Dohrn M, Tomaselli PJ, Figueiredo FB, Marques SE, Rebelo A, Abreu L, Danzi M, Zuchner S, Marques W. Loss of function, loss of pain?: novel variants in SCN9A to explain congenital insensitivity to pain in three brazilian cases (4899) [Internet]. Neurology. 2021 ; 96[citado 2026 abr. 26 ] Available from: https://doi.org/10.1212/WNL.96.15_supplement.4899
Vancouver
Cintra VP, Dohrn M, Tomaselli PJ, Figueiredo FB, Marques SE, Rebelo A, Abreu L, Danzi M, Zuchner S, Marques W. Loss of function, loss of pain?: novel variants in SCN9A to explain congenital insensitivity to pain in three brazilian cases (4899) [Internet]. Neurology. 2021 ; 96[citado 2026 abr. 26 ] Available from: https://doi.org/10.1212/WNL.96.15_supplement.4899
Artigo de periodico
Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort (2021)
Cintra, Vivian Pedigone; Dohrn, Maike F; Tomaselli, Pedro José ; Figueiredo, Fernanda Barbosa ; Marques, Sandra Elisabete; Camargos, Sarah Teixeira; Barbosa, Luiz Sergio Mageste; Rebelo, Adriana P; Abreu, Lisa; Danzi, Matt; Marques, Wilson ; Züchner, Stephan
Source: Journal of the Neurological Sciences. Unidade: FMRP
Subjects: DOENÇAS DO SISTEMA NERVOSO, MUTAÇÃO, DOENÇAS CONGÊNITAS, SEQUENCIAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CINTRA, Vivian Pedigone et al. Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. Journal of the Neurological Sciences, v. 427, 2021Tradução . . Disponível em: https://doi.org/10.1016/j.jns.2021.117498. Acesso em: 26 abr. 2026.
APA
Cintra, V. P., Dohrn, M. F., Tomaselli, P. J., Figueiredo, F. B., Marques, S. E., Camargos, S. T., et al. (2021). Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort. Journal of the Neurological Sciences, 427. doi:10.1016/j.jns.2021.117498
NLM
Cintra VP, Dohrn MF, Tomaselli PJ, Figueiredo FB, Marques SE, Camargos ST, Barbosa LSM, Rebelo AP, Abreu L, Danzi M, Marques W, Züchner S. Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort [Internet]. Journal of the Neurological Sciences. 2021 ; 427[citado 2026 abr. 26 ] Available from: https://doi.org/10.1016/j.jns.2021.117498
Vancouver
Cintra VP, Dohrn MF, Tomaselli PJ, Figueiredo FB, Marques SE, Camargos ST, Barbosa LSM, Rebelo AP, Abreu L, Danzi M, Marques W, Züchner S. Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort [Internet]. Journal of the Neurological Sciences. 2021 ; 427[citado 2026 abr. 26 ] Available from: https://doi.org/10.1016/j.jns.2021.117498

USP Schools

ReP

Filtros

Authors

USP affiliated authors

Subjects

Funding Agencies

Indexado em

Non normalized affiliation