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Artigo de periodico
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil (2020)
Bertola, Débora R; Castro, Matheus A. A; Yamamoto, Guilherme Lopes ; Honjo, Rachel Sayuri ; Ceroni, José Ricardo; Buscarilli, Michele M; Freitas, Amanda B; Malaquias, Alexsandra C; Pereira, Alexandre C; Jorge, Alexander A. L; Passos-Bueno, Maria Rita ; Kim, Chong A
Source: American journal of medical genetics. Part C, Seminars in medical genetics. Unidades: IB, FM
Subjects: MUTAÇÃO GENÉTICA, ANOMALIA CRANIOFACIAL, FENÓTIPOS
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ABNT
BERTOLA, Débora R et al. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. American journal of medical genetics. Part C, Seminars in medical genetics, v. 184, n. 4, p. 896-911, 2020Tradução . . Disponível em: https://doi.org/10.1002/ajmg.c.31851. Acesso em: 08 nov. 2024.
APA
Bertola, D. R., Castro, M. A. A., Yamamoto, G. L., Honjo, R. S., Ceroni, J. R., Buscarilli, M. M., et al. (2020). Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. American journal of medical genetics. Part C, Seminars in medical genetics, 184( 4), 896-911. doi:10.1002/ajmg.c.31851
NLM
Bertola DR, Castro MAA, Yamamoto GL, Honjo RS, Ceroni JR, Buscarilli MM, Freitas AB, Malaquias AC, Pereira AC, Jorge AAL, Passos-Bueno MR, Kim CA. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil [Internet]. American journal of medical genetics. Part C, Seminars in medical genetics. 2020 ; 184( 4): 896-911.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1002/ajmg.c.31851
Vancouver
Bertola DR, Castro MAA, Yamamoto GL, Honjo RS, Ceroni JR, Buscarilli MM, Freitas AB, Malaquias AC, Pereira AC, Jorge AAL, Passos-Bueno MR, Kim CA. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil [Internet]. American journal of medical genetics. Part C, Seminars in medical genetics. 2020 ; 184( 4): 896-911.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1002/ajmg.c.31851
Artigo de periodico
Impaired vascular smooth muscle cell force-generating capacity and phenotypic deregulation in Marfan Syndrome mice (2020)
Santos, Patrícia Nolasco; Fernandes, Carolina Gonçalves; Silva, João Carlos Ribeiro da; Oliveira, Percillia Victoria Santos de; Bessa, Tiphany Coralie De; Ferraz, Mariana Sacrini Ayres; Brito, Isis Vasconcelos de; Pereira, Lygia da Veiga ; Tanaka, Leonardo Yuji; Alencar, Adriano Mesquita ; Laurindo, Francisco Rafael Martins
Source: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. Unidades: IF, IB, FM
Assunto: ANEURISMA AÓRTICO
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SANTOS, Patrícia Nolasco et al. Impaired vascular smooth muscle cell force-generating capacity and phenotypic deregulation in Marfan Syndrome mice. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, v. 1866, n. 1, p. 165587, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.bbadis.2019.165587. Acesso em: 08 nov. 2024.
APA
Santos, P. N., Fernandes, C. G., Silva, J. C. R. da, Oliveira, P. V. S. de, Bessa, T. C. D., Ferraz, M. S. A., et al. (2020). Impaired vascular smooth muscle cell force-generating capacity and phenotypic deregulation in Marfan Syndrome mice. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1866( 1), 165587. doi:10.1016/j.bbadis.2019.165587
NLM
Santos PN, Fernandes CG, Silva JCR da, Oliveira PVS de, Bessa TCD, Ferraz MSA, Brito IV de, Pereira L da V, Tanaka LY, Alencar AM, Laurindo FRM. Impaired vascular smooth muscle cell force-generating capacity and phenotypic deregulation in Marfan Syndrome mice [Internet]. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2020 ; 1866( 1): 165587.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1016/j.bbadis.2019.165587
Vancouver
Santos PN, Fernandes CG, Silva JCR da, Oliveira PVS de, Bessa TCD, Ferraz MSA, Brito IV de, Pereira L da V, Tanaka LY, Alencar AM, Laurindo FRM. Impaired vascular smooth muscle cell force-generating capacity and phenotypic deregulation in Marfan Syndrome mice [Internet]. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2020 ; 1866( 1): 165587.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1016/j.bbadis.2019.165587
Artigo de periodico
NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss (2020)
Silva, Rodrigo Salazar da ; Dantas, Vitor Lima Goes ; Alves, Leandro Ucela; Batissoco, Ana Carla ; Oiticica, Jeanne ; Lawrence, Elizabeth A ; Kawafi, Abdelwahab ; Yang, Yishi ; Nicastro, Fernanda Stávale; Novaes, Beatriz Caiuby ; Hammond, Chrissy ; Kague, Érika ; Mingroni Netto, Regina Celia
Source: Human Molecular Genetics. Unidades: IB, FM
Subjects: AUDIÇÃO, SURDEZ, MUTAÇÃO GENÉTICA
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ABNT
SILVA, Rodrigo Salazar da et al. NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss. Human Molecular Genetics, v. 29, n. 2, p. 3691–3705, 2020Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddaa240. Acesso em: 08 nov. 2024.
APA
Silva, R. S. da, Dantas, V. L. G., Alves, L. U., Batissoco, A. C., Oiticica, J., Lawrence, E. A., et al. (2020). NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss. Human Molecular Genetics, 29( 2), 3691–3705. doi:10.1093/hmg/ddaa240
NLM
Silva RS da, Dantas VLG, Alves LU, Batissoco AC, Oiticica J, Lawrence EA, Kawafi A, Yang Y, Nicastro FS, Novaes BC, Hammond C, Kague É, Mingroni Netto RC. NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss [Internet]. Human Molecular Genetics. 2020 ;29( 2): 3691–3705.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1093/hmg/ddaa240
Vancouver
Silva RS da, Dantas VLG, Alves LU, Batissoco AC, Oiticica J, Lawrence EA, Kawafi A, Yang Y, Nicastro FS, Novaes BC, Hammond C, Kague É, Mingroni Netto RC. NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss [Internet]. Human Molecular Genetics. 2020 ;29( 2): 3691–3705.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1093/hmg/ddaa240
Artigo de periodico
Variants in the Kisspeptin-GnRH Pathway Modulate the hormonal profile and reproductive outcomes (2020)
Trevisan, Camila Martins; Naslavsky, Michel ; Monfardini, Frederico; Wang, Jaqueline; Zatz, Mayana ; Peluso, Carla; Pellegrino, Renata; Mafra, Fernanda; Hakonarson, Hakon; Ferreira, Frederico Moraes; Nakaya, Helder Takashi Imoto ; Christofolini, Denise Maria; Montagna, Erik; Crandall, Keith A; Barbosa, Caio Parente; Bianco, Bianca
Source: DNA and Cell Biology. Unidades: IB, FM, FCF, BIOINFORMÁTICA
Subjects: GENES, EXPRESSÃO GÊNICA
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ABNT
TREVISAN, Camila Martins et al. Variants in the Kisspeptin-GnRH Pathway Modulate the hormonal profile and reproductive outcomes. DNA and Cell Biology, v. 39, n. 6, p. 1012–1022, 2020Tradução . . Disponível em: https://doi.org/10.1089/dna.2019.5165. Acesso em: 08 nov. 2024.
APA
Trevisan, C. M., Naslavsky, M., Monfardini, F., Wang, J., Zatz, M., Peluso, C., et al. (2020). Variants in the Kisspeptin-GnRH Pathway Modulate the hormonal profile and reproductive outcomes. DNA and Cell Biology, 39( 6), 1012–1022. doi:10.1089/dna.2019.5165
NLM
Trevisan CM, Naslavsky M, Monfardini F, Wang J, Zatz M, Peluso C, Pellegrino R, Mafra F, Hakonarson H, Ferreira FM, Nakaya HTI, Christofolini DM, Montagna E, Crandall KA, Barbosa CP, Bianco B. Variants in the Kisspeptin-GnRH Pathway Modulate the hormonal profile and reproductive outcomes [Internet]. DNA and Cell Biology. 2020 ; 39( 6): 1012–1022.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1089/dna.2019.5165
Vancouver
Trevisan CM, Naslavsky M, Monfardini F, Wang J, Zatz M, Peluso C, Pellegrino R, Mafra F, Hakonarson H, Ferreira FM, Nakaya HTI, Christofolini DM, Montagna E, Crandall KA, Barbosa CP, Bianco B. Variants in the Kisspeptin-GnRH Pathway Modulate the hormonal profile and reproductive outcomes [Internet]. DNA and Cell Biology. 2020 ; 39( 6): 1012–1022.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1089/dna.2019.5165
Artigo de periodico
Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation (2020)
Rivas, Maria Prates; Aguiar, Talita Ferreira Marques; Maschietto, Mariana ; Lemes, Renan B ; Caires-Junior, Luiz Carlos ; Goulart, Ernesto ; Telles-Silva, Kayque Alves ; Novak, Estela ; Cristofani, Lilian Maria; Odone, Vicente; Cypriano, Monica ; Toledo, Silvia Regina Caminada de ; Carraro, Dirce Maria; Escobar, Melissa Quintero; Lee, Hana; Johnston, Michael; Costa, Cecilia Maria Lima da; Cunha, Isabela Werneck da; Tasic, Ljubica; Pearson, Peter L ; Rosenberg, Carla ; Timchenko, Nikolai; Krepischi, Ana Cristina Victorino
Source: Tumor Biology. Unidades: FM, IB
Subjects: METILAÇÃO DE DNA, NEOPLASIAS HEPÁTICAS, METABOLÔMICA, EPIGÊNESE GENÉTICA, CARCINOGÊNESE
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ABNT
RIVAS, Maria Prates et al. Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation. Tumor Biology, 2020Tradução . . Disponível em: https://doi.org/10.1177/1010428320977124. Acesso em: 08 nov. 2024.
APA
Rivas, M. P., Aguiar, T. F. M., Maschietto, M., Lemes, R. B., Caires-Junior, L. C., Goulart, E., et al. (2020). Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation. Tumor Biology. doi:10.1177/1010428320977124
NLM
Rivas MP, Aguiar TFM, Maschietto M, Lemes RB, Caires-Junior LC, Goulart E, Telles-Silva KA, Novak E, Cristofani LM, Odone V, Cypriano M, Toledo SRC de, Carraro DM, Escobar MQ, Lee H, Johnston M, Costa CML da, Cunha IW da, Tasic L, Pearson PL, Rosenberg C, Timchenko N, Krepischi ACV. Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation [Internet]. Tumor Biology. 2020 ;[citado 2024 nov. 08 ] Available from: https://doi.org/10.1177/1010428320977124
Vancouver
Rivas MP, Aguiar TFM, Maschietto M, Lemes RB, Caires-Junior LC, Goulart E, Telles-Silva KA, Novak E, Cristofani LM, Odone V, Cypriano M, Toledo SRC de, Carraro DM, Escobar MQ, Lee H, Johnston M, Costa CML da, Cunha IW da, Tasic L, Pearson PL, Rosenberg C, Timchenko N, Krepischi ACV. Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation [Internet]. Tumor Biology. 2020 ;[citado 2024 nov. 08 ] Available from: https://doi.org/10.1177/1010428320977124
Artigo de periodico
Longitudinal visual acuity development in ZIKV-exposed children (2020)
Lima, Diego da Silva ; Tabares, Heydi Segundo ; Dias, Sarah Leonardo; Silva, Leonardo Aparecido da ; Decleva, Diego; Zatz, Mayana ; BERTOZZI, ANA PAULA ANTUNES PASCALICCHIO; Gazeta, Rosa Estela; Passos, Saulo Duarte; Ventura, Dora Selma Fix ; Baran, Luiz Claudio Portnoi ; Hamer, Russell David; Costa, Marcelo Fernandes da ; Vidal, Kallene Summer Moreira ; Damico, Francisco Max ; Barboni, Mirella Telles Salgueiro; França, Valtenice de Cássia Rodrigues de Matos; Martins, Cristiane Maria Gomes
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus (AAPOS). Unidades: IB, IP, FM
Subjects: ACUIDADE VISUAL, CRIANÇAS, ZIKA VÍRUS, VISÃO
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ABNT
LIMA, Diego da Silva et al. Longitudinal visual acuity development in ZIKV-exposed children. Journal of American Association for Pediatric Ophthalmology and Strabismus (AAPOS), v. 24, n. 1, p. 23.e1-23.e6, 2020Tradução . . Disponível em: https://doi.org/10.1016/j.jaapos.2019.11.005. Acesso em: 08 nov. 2024.
APA
Lima, D. da S., Tabares, H. S., Dias, S. L., Silva, L. A. da, Decleva, D., Zatz, M., et al. (2020). Longitudinal visual acuity development in ZIKV-exposed children. Journal of American Association for Pediatric Ophthalmology and Strabismus (AAPOS), 24( 1), 23.e1-23.e6. doi:10.1016/j.jaapos.2019.11.005
NLM
Lima D da S, Tabares HS, Dias SL, Silva LA da, Decleva D, Zatz M, BERTOZZI ANAPAULAANTUNESPASCALICCHIO, Gazeta RE, Passos SD, Ventura DSF, Baran LCP, Hamer RD, Costa MF da, Vidal KSM, Damico FM, Barboni MTS, França V de CR de M, Martins CMG. Longitudinal visual acuity development in ZIKV-exposed children [Internet]. Journal of American Association for Pediatric Ophthalmology and Strabismus (AAPOS). 2020 ; 24( 1): 23.e1-23.e6.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1016/j.jaapos.2019.11.005
Vancouver
Lima D da S, Tabares HS, Dias SL, Silva LA da, Decleva D, Zatz M, BERTOZZI ANAPAULAANTUNESPASCALICCHIO, Gazeta RE, Passos SD, Ventura DSF, Baran LCP, Hamer RD, Costa MF da, Vidal KSM, Damico FM, Barboni MTS, França V de CR de M, Martins CMG. Longitudinal visual acuity development in ZIKV-exposed children [Internet]. Journal of American Association for Pediatric Ophthalmology and Strabismus (AAPOS). 2020 ; 24( 1): 23.e1-23.e6.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1016/j.jaapos.2019.11.005
Artigo de periodico
How ancestry influences the chances of finding unrelated donors: an investigation in admixed bBrazilians (2020)
Nunes, Kelly; Aguiar, Vitor R. C; Silva, Márcio; Sena, Alexandre C; Oliveira, Danielli C. M. de; Dinardo, Carla L; Kehdy, Fernanda S. G; Tarazona-Santos, Eduardo; Rocha, Vanderson G; Carneiro-Proietti, Anna Barbara F; Loureiro, Paula; Flor-Park, Miriam V; Maximo, Claudia; Kelly, Shannon; Custer, Brian; Weir, Bruce S; Sabino, Ester C ; Porto, Luís Cristóvão; Meyer, Diogo
Source: Frontiers in Immunology. Unidades: IB, FM
Subjects: GENEALOGIA, CÉLULAS-TRONCO, ANEMIA FALCIFORME
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ABNT
NUNES, Kelly et al. How ancestry influences the chances of finding unrelated donors: an investigation in admixed bBrazilians. Frontiers in Immunology, v. 11, 2020Tradução . . Disponível em: https://doi.org/10.3389/fimmu.2020.584950. Acesso em: 08 nov. 2024.
APA
Nunes, K., Aguiar, V. R. C., Silva, M., Sena, A. C., Oliveira, D. C. M. de, Dinardo, C. L., et al. (2020). How ancestry influences the chances of finding unrelated donors: an investigation in admixed bBrazilians. Frontiers in Immunology, 11. doi:10.3389/fimmu.2020.584950
NLM
Nunes K, Aguiar VRC, Silva M, Sena AC, Oliveira DCM de, Dinardo CL, Kehdy FSG, Tarazona-Santos E, Rocha VG, Carneiro-Proietti ABF, Loureiro P, Flor-Park MV, Maximo C, Kelly S, Custer B, Weir BS, Sabino EC, Porto LC, Meyer D. How ancestry influences the chances of finding unrelated donors: an investigation in admixed bBrazilians [Internet]. Frontiers in Immunology. 2020 ; 11[citado 2024 nov. 08 ] Available from: https://doi.org/10.3389/fimmu.2020.584950
Vancouver
Nunes K, Aguiar VRC, Silva M, Sena AC, Oliveira DCM de, Dinardo CL, Kehdy FSG, Tarazona-Santos E, Rocha VG, Carneiro-Proietti ABF, Loureiro P, Flor-Park MV, Maximo C, Kelly S, Custer B, Weir BS, Sabino EC, Porto LC, Meyer D. How ancestry influences the chances of finding unrelated donors: an investigation in admixed bBrazilians [Internet]. Frontiers in Immunology. 2020 ; 11[citado 2024 nov. 08 ] Available from: https://doi.org/10.3389/fimmu.2020.584950
Artigo de periodico
Meta-analyses support previous and novel autism candidate genes: outcomes of an unexplored Brazilian cohort (2020)
Montenegro, Eduarda Morgana da Silva; Costa, Claudia Samogy; Campos, Gabriele; Scliar, Marília; Almeida, Tatiana Ferreira de; Zachi, Elaine Cristina; Silva, Isabela Maya Wahys; Chan, Ada J. S; Zarrei, Mehd; Lourenço, Naila C. V; Yamamoto, Guilherme Lopes ; Scherer, Stephen; Passos-Bueno, Maria Rita
Source: Autism Research (Online). Unidades: IB, IP, FM
Subjects: TRANSTORNO AUTÍSTICO, GENÉTICA, GENOMAS, MUTAÇÃO GENÉTICA
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ABNT
MONTENEGRO, Eduarda Morgana da Silva et al. Meta-analyses support previous and novel autism candidate genes: outcomes of an unexplored Brazilian cohort. Autism Research (Online), v. 13, n. 2, p. 199-206, 2020Tradução . . Disponível em: https://doi.org/10.1002/aur.2238. Acesso em: 08 nov. 2024.
APA
Montenegro, E. M. da S., Costa, C. S., Campos, G., Scliar, M., Almeida, T. F. de, Zachi, E. C., et al. (2020). Meta-analyses support previous and novel autism candidate genes: outcomes of an unexplored Brazilian cohort. Autism Research (Online), 13( 2), 199-206. doi:10.1002/aur.2238
NLM
Montenegro EM da S, Costa CS, Campos G, Scliar M, Almeida TF de, Zachi EC, Silva IMW, Chan AJS, Zarrei M, Lourenço NCV, Yamamoto GL, Scherer S, Passos-Bueno MR. Meta-analyses support previous and novel autism candidate genes: outcomes of an unexplored Brazilian cohort [Internet]. Autism Research (Online). 2020 ; 13( 2): 199-206.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1002/aur.2238
Vancouver
Montenegro EM da S, Costa CS, Campos G, Scliar M, Almeida TF de, Zachi EC, Silva IMW, Chan AJS, Zarrei M, Lourenço NCV, Yamamoto GL, Scherer S, Passos-Bueno MR. Meta-analyses support previous and novel autism candidate genes: outcomes of an unexplored Brazilian cohort [Internet]. Autism Research (Online). 2020 ; 13( 2): 199-206.[citado 2024 nov. 08 ] Available from: https://doi.org/10.1002/aur.2238
Artigo de periodico
Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients (2020)
Leão, Leonardo Galleni; Souza, Lucas Santos; Nogueira, Letícia; Pavanello, Rita de Cássia Mingroni; Gurgel-Giannetti, Juliana; Reed, Umbertina C; Oliveira, Acary S.B; Cuperman, Thais; Cotta, Ana; Paim, Julia F; Zatz, Mayana ; Vainzof, Mariz
Source: Acta Myologica. Unidades: FM, IB
Subjects: DOENÇAS NEUROMUSCULARES, MUTAÇÃO GENÉTICA, MIOPATIAS CONGÊNITAS ESTRUTURAIS
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ABNT
LEÃO, Leonardo Galleni et al. Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients. Acta Myologica, v. 39, n. 4, p. 274–282, 2020Tradução . . Disponível em: https://doi.org/10.36185/2532-1900-030. Acesso em: 08 nov. 2024.
APA
Leão, L. G., Souza, L. S., Nogueira, L., Pavanello, R. de C. M., Gurgel-Giannetti, J., Reed, U. C., et al. (2020). Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients. Acta Myologica, 39( 4), 274–282. doi:10.36185/2532-1900-030
NLM
Leão LG, Souza LS, Nogueira L, Pavanello R de CM, Gurgel-Giannetti J, Reed UC, Oliveira ASB, Cuperman T, Cotta A, Paim JF, Zatz M, Vainzof M. Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients [Internet]. Acta Myologica. 2020 ; 39( 4): 274–282.[citado 2024 nov. 08 ] Available from: https://doi.org/10.36185/2532-1900-030
Vancouver
Leão LG, Souza LS, Nogueira L, Pavanello R de CM, Gurgel-Giannetti J, Reed UC, Oliveira ASB, Cuperman T, Cotta A, Paim JF, Zatz M, Vainzof M. Dominant or recessive mutations in the RYR1 gene causing central core myopathy in Brazilian patients [Internet]. Acta Myologica. 2020 ; 39( 4): 274–282.[citado 2024 nov. 08 ] Available from: https://doi.org/10.36185/2532-1900-030

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