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Artigo de periodico
Identification of Regulatory Mutations Affecting Complex Traits (2023)
Coutinho, Luiz Lehmann
Source: Journal of Animal Science. Unidade: ESALQ
Subjects: BOVINOS DE CORTE, CROMATINA, EXPRESSÃO GÊNICA, GENÔMICA, MUTAÇÃO GENÉTICA, REGULAÇÃO GÊNICA, RNA, SEQUENCIAMENTO GENÉTICO
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COUTINHO, Luiz Lehmann. Identification of Regulatory Mutations Affecting Complex Traits. Journal of Animal Science, v. 101, p. 23-24, 2023Tradução . . Disponível em: https://doi.org/10.1093/jas/skad341.026. Acesso em: 12 jun. 2024.
APA
Coutinho, L. L. (2023). Identification of Regulatory Mutations Affecting Complex Traits. Journal of Animal Science, 101, 23-24. doi:10.1093/jas/skad341.026
NLM
Coutinho LL. Identification of Regulatory Mutations Affecting Complex Traits [Internet]. Journal of Animal Science. 2023 ; 101 23-24.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1093/jas/skad341.026
Vancouver
Coutinho LL. Identification of Regulatory Mutations Affecting Complex Traits [Internet]. Journal of Animal Science. 2023 ; 101 23-24.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1093/jas/skad341.026
Artigo de periodico
Molecular detection and characterization of SARS-CoV-2 in cats and dogs of positive owners during the first COVID-19 wave in Brazil (2023)
Galhardo, Juliana Arena ; Barbosa, David Soeiro ; Kmetiuk, Louise Bach ; Teixeira, Ana Izabel Passarella ; Fonseca, Paula Luize Camargos ; Santos, Luiza Campos Guerra de Araújo e ; Queiroz, Daniel Costa ; Miranda, João Victor Oliveira ; Silva Filho, Aluisio Pereira da ; Castillo, Anisleidy Pérez ; Araújo, Ricardo Nascimento ; Silveira, Julia Angelica Gonçalves da; Ristow, Luiz Eduardo ; Brandespim, Daniel Friguglietti ; Pettan-Brewer, Christina ; Dutra, Valéria ; Morais, Helio Autran de; Santos, Andrea Pires dos ; Agopian, Rafael Garabet ; Aguiar, Renato Santana de ; Biondo, Alexander Welker ; Guimarães, Ana Marcia de Sá
Source: Scientific Reports. Unidade: ICB
Subjects: MICROBIOLOGIA, COVID-19, GATOS, CÃES, REAÇÃO EM CADEIA POR POLIMERASE, MUTAÇÃO GENÉTICA
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GALHARDO, Juliana Arena et al. Molecular detection and characterization of SARS-CoV-2 in cats and dogs of positive owners during the first COVID-19 wave in Brazil. Scientific Reports, v. 13, n. 1, p. 8 , 2023Tradução . . Disponível em: https://doi.org/10.1038/s41598-023-41285-0. Acesso em: 12 jun. 2024.
APA
Galhardo, J. A., Barbosa, D. S., Kmetiuk, L. B., Teixeira, A. I. P., Fonseca, P. L. C., Santos, L. C. G. de A. e, et al. (2023). Molecular detection and characterization of SARS-CoV-2 in cats and dogs of positive owners during the first COVID-19 wave in Brazil. Scientific Reports, 13( 1), 8 . doi:10.1038/s41598-023-41285-0
NLM
Galhardo JA, Barbosa DS, Kmetiuk LB, Teixeira AIP, Fonseca PLC, Santos LCG de A e, Queiroz DC, Miranda JVO, Silva Filho AP da, Castillo AP, Araújo RN, Silveira JAG da, Ristow LE, Brandespim DF, Pettan-Brewer C, Dutra V, Morais HA de, Santos AP dos, Agopian RG, Aguiar RS de, Biondo AW, Guimarães AM de S. Molecular detection and characterization of SARS-CoV-2 in cats and dogs of positive owners during the first COVID-19 wave in Brazil [Internet]. Scientific Reports. 2023 ; 13( 1): 8 .[citado 2024 jun. 12 ] Available from: https://doi.org/10.1038/s41598-023-41285-0
Vancouver
Galhardo JA, Barbosa DS, Kmetiuk LB, Teixeira AIP, Fonseca PLC, Santos LCG de A e, Queiroz DC, Miranda JVO, Silva Filho AP da, Castillo AP, Araújo RN, Silveira JAG da, Ristow LE, Brandespim DF, Pettan-Brewer C, Dutra V, Morais HA de, Santos AP dos, Agopian RG, Aguiar RS de, Biondo AW, Guimarães AM de S. Molecular detection and characterization of SARS-CoV-2 in cats and dogs of positive owners during the first COVID-19 wave in Brazil [Internet]. Scientific Reports. 2023 ; 13( 1): 8 .[citado 2024 jun. 12 ] Available from: https://doi.org/10.1038/s41598-023-41285-0
Artigo de periodico
Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients (2023)
Yurchenko, Andrey A. ; Rajabi, Fatemeh ; Braz-Petta, Tirzah ; Fassihi, Hiva ; Lehmann, Alan ; Nishigori, Chikako ; Wang, Jinxin; Padioleau, Ismael ; Gunbin, Konstantin ; Panunzi, Leonardo ; Morice-Picard, Fanny ; Laplante, Pierre; Robert, Caroline ; Kannouche, Patricia L. ; Sarasin, Alain ; Nikolaev, Sergey I. ; Menck, Carlos Frederico Martins
Source: Nature Communications. Unidade: ICB
Subjects: MICROBIOLOPGIA, MUTAÇÃO GENÉTICA, REPARAÇÃO DE DNA, NEOPLASIAS CUTÂNEAS, DERMATOPATIAS, DOENÇAS GENÉTICAS, RADIAÇÃO ULTRAVIOLETA, GENÔMICA
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YURCHENKO, Andrey A. et al. Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients. Nature Communications, v. 14, p. 1-17, 2023Tradução . . Disponível em: https://doi.org/10.1038/s41467-023-38311-0. Acesso em: 12 jun. 2024.
APA
Yurchenko, A. A., Rajabi, F., Braz-Petta, T., Fassihi, H., Lehmann, A., Nishigori, C., et al. (2023). Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients. Nature Communications, 14, 1-17. doi:10.1038/s41467-023-38311-0
NLM
Yurchenko AA, Rajabi F, Braz-Petta T, Fassihi H, Lehmann A, Nishigori C, Wang J, Padioleau I, Gunbin K, Panunzi L, Morice-Picard F, Laplante P, Robert C, Kannouche PL, Sarasin A, Nikolaev SI, Menck CFM. Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients [Internet]. Nature Communications. 2023 ; 14 1-17.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1038/s41467-023-38311-0
Vancouver
Yurchenko AA, Rajabi F, Braz-Petta T, Fassihi H, Lehmann A, Nishigori C, Wang J, Padioleau I, Gunbin K, Panunzi L, Morice-Picard F, Laplante P, Robert C, Kannouche PL, Sarasin A, Nikolaev SI, Menck CFM. Genomic mutation landscape of skin cancers from DNA repair-deficient xeroderma pigmentosum patients [Internet]. Nature Communications. 2023 ; 14 1-17.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1038/s41467-023-38311-0
Artigo de periodico
Population-based genomic study of Plasmodium vivax malaria in seven Brazilian states and across South America (2023)
Ibrahim, Amy ; Manko, Emilia ; Dombrowski, Jamille Gregório ; Campos, Monica ; Benavente, Ernest Diez ; Nolder, Debbie ; Sutherland, Colin J. ; Nosten, Francois ; Marinho, Claudio Romero Farias
Source: The Lancet Regional Health. Americas. Unidade: ICB
Subjects: PARASITOLOGIA, DIVERSIDADE GENÉTICA, ANTIMALÁRICOS, GENOMAS, MALÁRIA, ANIMAIS PARASITOS, MUTAÇÃO GENÉTICA, GENÉTICA DE POPULAÇÕES
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IBRAHIM, Amy et al. Population-based genomic study of Plasmodium vivax malaria in seven Brazilian states and across South America. The Lancet Regional Health. Americas, v. 18, p. 1-21, 2023Tradução . . Disponível em: https://doi.org/10.1016/j.lana.2022.100420. Acesso em: 12 jun. 2024.
APA
Ibrahim, A., Manko, E., Dombrowski, J. G., Campos, M., Benavente, E. D., Nolder, D., et al. (2023). Population-based genomic study of Plasmodium vivax malaria in seven Brazilian states and across South America. The Lancet Regional Health. Americas, 18, 1-21. doi:10.1016/j.lana.2022.100420
NLM
Ibrahim A, Manko E, Dombrowski JG, Campos M, Benavente ED, Nolder D, Sutherland CJ, Nosten F, Marinho CRF. Population-based genomic study of Plasmodium vivax malaria in seven Brazilian states and across South America [Internet]. The Lancet Regional Health. Americas. 2023 ; 18 1-21.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1016/j.lana.2022.100420
Vancouver
Ibrahim A, Manko E, Dombrowski JG, Campos M, Benavente ED, Nolder D, Sutherland CJ, Nosten F, Marinho CRF. Population-based genomic study of Plasmodium vivax malaria in seven Brazilian states and across South America [Internet]. The Lancet Regional Health. Americas. 2023 ; 18 1-21.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1016/j.lana.2022.100420
Artigo de periodico
Salmonella Heidelberg and Salmonella Minnesota in Brazilian broilers: genomic characterization of third-generation cephalosporin and fluoroquinolone-resistant strains (2023)
Saidenberg, Andre Becker Simões ; Franco, Leticia Soares ; Reple, Jessica Nacarato; Hounmanou, Yaovi Mahuton Gildas ; Casas, Monique Ribeiro Tiba ; Barbosa, Brenda Angélica Cardoso ; Esposito, Fernanda Ribeiro dos Santos ; Huenuman, Nilton Erbet Lincopan ; Dalsgaard, Anders ; Stegger, Marc ; Knöbl, Terezinha
Source: Environmental Microbiology Reports. Unidades: ICB, FMVZ, FCF
Subjects: MICROBIOLOGIA, SALMONELLA, FRANGOS DE CORTE, GENÉTICA BACTERIANA, ANTIBIÓTICOS, GENOMAS, PLASMÍDEOS, MUTAÇÃO GENÉTICA, FILOGENIA, VIRULÊNCIA, ESCHERICHIA COLI
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SAIDENBERG, Andre Becker Simões et al. Salmonella Heidelberg and Salmonella Minnesota in Brazilian broilers: genomic characterization of third-generation cephalosporin and fluoroquinolone-resistant strains. Environmental Microbiology Reports, v. 15, p. 119-128, 2023Tradução . . Disponível em: https://doi.org/10.1111/1758-2229.13132. Acesso em: 12 jun. 2024.
APA
Saidenberg, A. B. S., Franco, L. S., Reple, J. N., Hounmanou, Y. M. G., Casas, M. R. T., Barbosa, B. A. C., et al. (2023). Salmonella Heidelberg and Salmonella Minnesota in Brazilian broilers: genomic characterization of third-generation cephalosporin and fluoroquinolone-resistant strains. Environmental Microbiology Reports, 15, 119-128. doi:10.1111/1758-2229.13132
NLM
Saidenberg ABS, Franco LS, Reple JN, Hounmanou YMG, Casas MRT, Barbosa BAC, Esposito FR dos S, Huenuman NEL, Dalsgaard A, Stegger M, Knöbl T. Salmonella Heidelberg and Salmonella Minnesota in Brazilian broilers: genomic characterization of third-generation cephalosporin and fluoroquinolone-resistant strains [Internet]. Environmental Microbiology Reports. 2023 ; 15 119-128.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1111/1758-2229.13132
Vancouver
Saidenberg ABS, Franco LS, Reple JN, Hounmanou YMG, Casas MRT, Barbosa BAC, Esposito FR dos S, Huenuman NEL, Dalsgaard A, Stegger M, Knöbl T. Salmonella Heidelberg and Salmonella Minnesota in Brazilian broilers: genomic characterization of third-generation cephalosporin and fluoroquinolone-resistant strains [Internet]. Environmental Microbiology Reports. 2023 ; 15 119-128.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1111/1758-2229.13132
Artigo de periodico
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome (2023)
Lazzaro Filho, Ricardo Di; Yamamoto, Guilherme Lopes; Silva, Tiago J; Rocha, Leticia A; Linnenkamp, Bianca D. W; Castro, Matheus Augusto Araújo; Bartholdi, Deborah; Schaller, André; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y; Steiner, Carlos E; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae ; Wang, Lisa; Abourjaili-Bilodeau, Raphaël; Campeau, Philippe M; Warma, Matthew; Passos-Bueno, Maria Rita ; Hoch, Nicolas Carlos ; Bertola, Débora Romeo
Source: Journal of Medical Genetics. Unidades: BIOINFORMÁTICA, FM, IB, IQ
Subjects: GENÉTICA MÉDICA, ANÁLISE DE SEQUÊNCIA DE DNA, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA
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LAZZARO FILHO, Ricardo Di et al. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics, 2023Tradução . . Disponível em: https://doi.org/10.1136/jmg-2022-109119. Acesso em: 12 jun. 2024.
APA
Lazzaro Filho, R. D., Yamamoto, G. L., Silva, T. J., Rocha, L. A., Linnenkamp, B. D. W., Castro, M. A. A., et al. (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics. doi:10.1136/jmg-2022-109119
NLM
Lazzaro Filho RD, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warma M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome [Internet]. Journal of Medical Genetics. 2023 ;[citado 2024 jun. 12 ] Available from: https://doi.org/10.1136/jmg-2022-109119
Vancouver
Lazzaro Filho RD, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warma M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome [Internet]. Journal of Medical Genetics. 2023 ;[citado 2024 jun. 12 ] Available from: https://doi.org/10.1136/jmg-2022-109119
Artigo de periodico
Identification of ITPR1 as a Hub Gene of Group 3 Medulloblastoma and Coregulated Genes with Potential Prognostic Values (2022)
Chagas, Pablo Ferreira das; Sousa, Graziella Ribeiro de; Veronez, Luciana Chain; Martins-da-Silva, Andrea; Correa, Carolina Alves Pereira; Cruzeiro, Gustavo Alencastro Veiga; Nagano, Luis Fernando Peinado; Queiroz, Rosane Gomes de Paula; Marie, Suely Kazue Nagahashi ; Brandalise, Silvia Regina
Source: Journal of molecular neuroscience. Unidade: FM
Subjects: NEUROBLASTOMA, METÁSTASE NEOPLÁSICA, MUTAÇÃO GENÉTICA, PROLIFERAÇÃO CELULAR
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CHAGAS, Pablo Ferreira das et al. Identification of ITPR1 as a Hub Gene of Group 3 Medulloblastoma and Coregulated Genes with Potential Prognostic Values. Journal of molecular neuroscience, v. 72, n. 3, p. 633-641, 2022Tradução . . Disponível em: https://doi.org/10.1007/s12031-021-01942-3. Acesso em: 12 jun. 2024.
APA
Chagas, P. F. das, Sousa, G. R. de, Veronez, L. C., Martins-da-Silva, A., Correa, C. A. P., Cruzeiro, G. A. V., et al. (2022). Identification of ITPR1 as a Hub Gene of Group 3 Medulloblastoma and Coregulated Genes with Potential Prognostic Values. Journal of molecular neuroscience, 72( 3), 633-641. doi:10.1007/s12031-021-01942-3
NLM
Chagas PF das, Sousa GR de, Veronez LC, Martins-da-Silva A, Correa CAP, Cruzeiro GAV, Nagano LFP, Queiroz RG de P, Marie SKN, Brandalise SR. Identification of ITPR1 as a Hub Gene of Group 3 Medulloblastoma and Coregulated Genes with Potential Prognostic Values [Internet]. Journal of molecular neuroscience. 2022 ; 72( 3): 633-641.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1007/s12031-021-01942-3
Vancouver
Chagas PF das, Sousa GR de, Veronez LC, Martins-da-Silva A, Correa CAP, Cruzeiro GAV, Nagano LFP, Queiroz RG de P, Marie SKN, Brandalise SR. Identification of ITPR1 as a Hub Gene of Group 3 Medulloblastoma and Coregulated Genes with Potential Prognostic Values [Internet]. Journal of molecular neuroscience. 2022 ; 72( 3): 633-641.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1007/s12031-021-01942-3
Artigo de periodico
Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia (2022)
Ferreira, Caroline Borges ; Silva, Talita de Melo e ; Silva, Phelipe Eduardo ; Castro, Claudio Lucio de; Czeisler, Catherine ; Otero, José J. ; Moreira, Ana Carolina Takakura ; Moreira, Thiago dos Santos
Source: eLife. Unidade: ICB
Subjects: FISIOLOGIA, FARMACOLOGIA, TRANSCRIÇÃO GÊNICA, MUTAÇÃO GENÉTICA, RESPIRAÇÃO ANIMAL, MODELOS ANIMAIS DE DOENÇAS, CAMUNDONGOS, ANÓXIA, APNEIA DO SONO TIPO CENTRAL
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FERREIRA, Caroline Borges et al. Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia. eLife, v. 11, p. 1-23, 2022Tradução . . Disponível em: https://doi.org/10.7554/eLife.73130. Acesso em: 12 jun. 2024.
APA
Ferreira, C. B., Silva, T. de M. e, Silva, P. E., Castro, C. L. de, Czeisler, C., Otero, J. J., et al. (2022). Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia. eLife, 11, 1-23. doi:10.7554/eLife.73130
NLM
Ferreira CB, Silva T de M e, Silva PE, Castro CL de, Czeisler C, Otero JJ, Moreira ACT, Moreira T dos S. Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia [Internet]. eLife. 2022 ; 11 1-23.[citado 2024 jun. 12 ] Available from: https://doi.org/10.7554/eLife.73130
Vancouver
Ferreira CB, Silva T de M e, Silva PE, Castro CL de, Czeisler C, Otero JJ, Moreira ACT, Moreira T dos S. Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia [Internet]. eLife. 2022 ; 11 1-23.[citado 2024 jun. 12 ] Available from: https://doi.org/10.7554/eLife.73130
Artigo de periodico
Genetic contribution and functional impairment of inflammasome in sickle cell disease (2022)
Dutra, Valéria de Freitas ; Leal, Vinícius Nunes Cordeiro ; Fernandes, Fernanda Pereira ; Souza, Cláudia Regina Lustosa; Figueiredo, Maria Stella ; Pontillo, Alessandra
Source: Cytokine. Unidade: ICB
Subjects: IMUNOLOGIA, ANEMIA FALCIFORME, AMINOÁCIDOS, MUTAÇÃO GENÉTICA, INFLAMAÇÃO, CITOCINAS, POLIMORFISMO, NUCLEOTÍDEOS, MONÓCITOS, VARIAÇÃO GENÉTICA, IMUNOGENÉTICA
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DUTRA, Valéria de Freitas et al. Genetic contribution and functional impairment of inflammasome in sickle cell disease. Cytokine, v. 149, p. 1-10, 2022Tradução . . Disponível em: https://doi.org/10.1016/j.cyto.2021.155717. Acesso em: 12 jun. 2024.
APA
Dutra, V. de F., Leal, V. N. C., Fernandes, F. P., Souza, C. R. L., Figueiredo, M. S., & Pontillo, A. (2022). Genetic contribution and functional impairment of inflammasome in sickle cell disease. Cytokine, 149, 1-10. doi:10.1016/j.cyto.2021.155717
NLM
Dutra V de F, Leal VNC, Fernandes FP, Souza CRL, Figueiredo MS, Pontillo A. Genetic contribution and functional impairment of inflammasome in sickle cell disease [Internet]. Cytokine. 2022 ; 149 1-10.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1016/j.cyto.2021.155717
Vancouver
Dutra V de F, Leal VNC, Fernandes FP, Souza CRL, Figueiredo MS, Pontillo A. Genetic contribution and functional impairment of inflammasome in sickle cell disease [Internet]. Cytokine. 2022 ; 149 1-10.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1016/j.cyto.2021.155717
Artigo de periodico
Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature (2022)
Andrade, Nathalia Liberatoscioli Menezes; Funari, Mariana Ferreira de Assis; Scalco, Renata; Dantas, Naiara Castelo Branc; Rezende, Raissa C; Freire, Bruna L; Krepischi, Ana Cristina Victorino ; Arnhold, Ivo J P; Jorge, Alexander A. L; Vasques, Gabriela Andrade
Source: Endocrine Connections. Unidades: IB, FM
Subjects: MUTAÇÃO GENÉTICA, SEQUENCIAMENTO GENÉTICO, CRIANÇAS, DOENÇAS GENÉTICAS
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ANDRADE, Nathalia Liberatoscioli Menezes et al. Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature. Endocrine Connections, v. 11, n. 12, 2022Tradução . . Disponível em: https://doi.org/10.1530/EC-22-0214. Acesso em: 12 jun. 2024.
APA
Andrade, N. L. M., Funari, M. F. de A., Scalco, R., Dantas, N. C. B., Rezende, R. C., Freire, B. L., et al. (2022). Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature. Endocrine Connections, 11( 12). doi:10.1530/EC-22-0214
NLM
Andrade NLM, Funari MF de A, Scalco R, Dantas NCB, Rezende RC, Freire BL, Krepischi ACV, Arnhold IJP, Jorge AAL, Vasques GA. Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature [Internet]. Endocrine Connections. 2022 ; 11( 12):[citado 2024 jun. 12 ] Available from: https://doi.org/10.1530/EC-22-0214
Vancouver
Andrade NLM, Funari MF de A, Scalco R, Dantas NCB, Rezende RC, Freire BL, Krepischi ACV, Arnhold IJP, Jorge AAL, Vasques GA. Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature [Internet]. Endocrine Connections. 2022 ; 11( 12):[citado 2024 jun. 12 ] Available from: https://doi.org/10.1530/EC-22-0214
Artigo de periodico
Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila (2022)
Palacios-Muñoz, Angelina ; Moreira, Danielle de Paula; Silva, Valeria ; García, Isaac E; Aboitiz, Francisco; Zarrei, Mehdi; Campos, Gabriele ; Rennie, Olivia ; Howe, Jennifer L; Anagnostou, Evdokia; Ambrozewic, Patricia; Scherer, Stephen W ; Passos-Bueno, Maria Rita ; Ewer, John
Source: Molecular Psychiatry. Unidade: IB
Subjects: TRANSTORNO DO ESPECTRO AUTISTA, NEUROBIOLOGIA, MUTAÇÃO GENÉTICA
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PALACIOS-MUÑOZ, Angelina et al. Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila. Molecular Psychiatry, 2022Tradução . . Disponível em: https://doi.org/10.1038/s41380-022-01555-1. Acesso em: 12 jun. 2024.
APA
Palacios-Muñoz, A., Moreira, D. de P., Silva, V., García, I. E., Aboitiz, F., Zarrei, M., et al. (2022). Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila. Molecular Psychiatry. doi:10.1038/s41380-022-01555-1
NLM
Palacios-Muñoz A, Moreira D de P, Silva V, García IE, Aboitiz F, Zarrei M, Campos G, Rennie O, Howe JL, Anagnostou E, Ambrozewic P, Scherer SW, Passos-Bueno MR, Ewer J. Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila [Internet]. Molecular Psychiatry. 2022 ;[citado 2024 jun. 12 ] Available from: https://doi.org/10.1038/s41380-022-01555-1
Vancouver
Palacios-Muñoz A, Moreira D de P, Silva V, García IE, Aboitiz F, Zarrei M, Campos G, Rennie O, Howe JL, Anagnostou E, Ambrozewic P, Scherer SW, Passos-Bueno MR, Ewer J. Mutations in trpγ, the homologue of TRPC6 autism candidate gene, causes autism-like behavioral deficits in Drosophila [Internet]. Molecular Psychiatry. 2022 ;[citado 2024 jun. 12 ] Available from: https://doi.org/10.1038/s41380-022-01555-1
Artigo de periodico
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy (2022)
Ragamin, Aviel; Gomes, Carolina C; Heus, Karen Bindels-de; Sandoval, Renata; Bassenden, Angelia Bassenden; Dib, Luciano; Kok, Fernando ; Alves, Julieta; Mathijssen, Irene; Herik, Evita Medici-van den
Source: Journal of medical genetics. Unidade: FM
Subjects: DOENÇAS DO SISTEMA NERVOSO, DOENÇAS DO SISTEMA NERVOSO PERIFÉRICO, MUTAÇÃO GENÉTICA
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ABNT
RAGAMIN, Aviel et al. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy. Journal of medical genetics, v. 59, n. 3, p. 305-312, 2022Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2020-107427. Acesso em: 12 jun. 2024.
APA
Ragamin, A., Gomes, C. C., Heus, K. B. -de, Sandoval, R., Bassenden, A. B., Dib, L., et al. (2022). De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy. Journal of medical genetics, 59( 3), 305-312. doi:10.1136/jmedgenet-2020-107427
NLM
Ragamin A, Gomes CC, Heus KB-de, Sandoval R, Bassenden AB, Dib L, Kok F, Alves J, Mathijssen I, Herik EM-van den. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy [Internet]. Journal of medical genetics. 2022 ; 59( 3): 305-312.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107427
Vancouver
Ragamin A, Gomes CC, Heus KB-de, Sandoval R, Bassenden AB, Dib L, Kok F, Alves J, Mathijssen I, Herik EM-van den. De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy [Internet]. Journal of medical genetics. 2022 ; 59( 3): 305-312.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107427
Artigo de periodico
Corrigendum to: NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss (2022)
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: SURDEZ, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SILVA, Rodrigo Salazar da et al. Corrigendum to: NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss. Human Molecular Genetics, v. 31, n. Ja 2022, 2022Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddab325. Acesso em: 12 jun. 2024.
APA
Silva, R. S. da, Dantas, V. L. G., Alves, L. U., Batissoco, A. C., Oiticica, J., Lawrence, E. A., et al. (2022). Corrigendum to: NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss. Human Molecular Genetics, 31( Ja 2022). doi:10.1093/hmg/ddab325
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. Corrigendum to: NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss [Internet]. Human Molecular Genetics. 2022 ; 31( Ja 2022):[citado 2024 jun. 12 ] Available from: https://doi.org/10.1093/hmg/ddab325
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. Corrigendum to: NCOA3 identified as a new candidate to explain autosomal dominant progressive hearing loss [Internet]. Human Molecular Genetics. 2022 ; 31( Ja 2022):[citado 2024 jun. 12 ] Available from: https://doi.org/10.1093/hmg/ddab325
Artigo de periodico
Unraveling the metabolism of Mycobacterium caprae using comparative genomics (2022)
Romano, Giovanni Emiddio ; Pereira, Taiana Tainá Silva ; Melo, Filipe Menegatti de ; Sisco, Maria Carolina ; Banari, Alexandre Campos; Zimpel, Cristina Kraemer ; Camargo, Naila Cristina Soler; Guimarães, Ana Marcia de Sá
Source: Tuberculosis. Unidades: ICB, FMVZ
Subjects: MICROBIOLOGIA, GENÉTICA BACTERIANA, MYCOBACTERIUM BOVIS, MYCOBACTERIUM TUBERCULOSIS, GENÔMICA, ÁCIDO GLUTÂMICO, MUTAÇÃO GENÉTICA, MEIOS DE CULTURA
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ABNT
ROMANO, Giovanni Emiddio et al. Unraveling the metabolism of Mycobacterium caprae using comparative genomics. Tuberculosis, v. 136, p. 1-12, 2022Tradução . . Disponível em: https://doi.org/10.1016/j.tube.2022.102254. Acesso em: 12 jun. 2024.
APA
Romano, G. E., Pereira, T. T. S., Melo, F. M. de, Sisco, M. C., Banari, A. C., Zimpel, C. K., et al. (2022). Unraveling the metabolism of Mycobacterium caprae using comparative genomics. Tuberculosis, 136, 1-12. doi:10.1016/j.tube.2022.102254
NLM
Romano GE, Pereira TTS, Melo FM de, Sisco MC, Banari AC, Zimpel CK, Camargo NCS, Guimarães AM de S. Unraveling the metabolism of Mycobacterium caprae using comparative genomics [Internet]. Tuberculosis. 2022 ; 136 1-12.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1016/j.tube.2022.102254
Vancouver
Romano GE, Pereira TTS, Melo FM de, Sisco MC, Banari AC, Zimpel CK, Camargo NCS, Guimarães AM de S. Unraveling the metabolism of Mycobacterium caprae using comparative genomics [Internet]. Tuberculosis. 2022 ; 136 1-12.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1016/j.tube.2022.102254
Artigo de periodico
Focused goodness of fit tests for gene set analyses (2022)
Zhang, Mengqi; Gelfman, Sahar; Moreno, Cristiane Araujo Martins ; Mccarthy, Janice M.; Harms, Matthew B.; Goldstein, David B.; Allen, Andrew S.
Source: Briefings in bioinformatics. Unidade: FM
Subjects: ESCLEROSE AMIOTRÓFICA LATERAL, MUTAÇÃO GENÉTICA, DOENÇAS NEURODEGENERATIVAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ZHANG, Mengqi et al. Focused goodness of fit tests for gene set analyses. Briefings in bioinformatics, v. 23, n. 1, 2022Tradução . . Disponível em: https://doi.org/10.1093/bib/bbab472. Acesso em: 12 jun. 2024.
APA
Zhang, M., Gelfman, S., Moreno, C. A. M., Mccarthy, J. M., Harms, M. B., Goldstein, D. B., & Allen, A. S. (2022). Focused goodness of fit tests for gene set analyses. Briefings in bioinformatics, 23( 1). doi:10.1093/bib/bbab472
NLM
Zhang M, Gelfman S, Moreno CAM, Mccarthy JM, Harms MB, Goldstein DB, Allen AS. Focused goodness of fit tests for gene set analyses [Internet]. Briefings in bioinformatics. 2022 ; 23( 1):[citado 2024 jun. 12 ] Available from: https://doi.org/10.1093/bib/bbab472
Vancouver
Zhang M, Gelfman S, Moreno CAM, Mccarthy JM, Harms MB, Goldstein DB, Allen AS. Focused goodness of fit tests for gene set analyses [Internet]. Briefings in bioinformatics. 2022 ; 23( 1):[citado 2024 jun. 12 ] Available from: https://doi.org/10.1093/bib/bbab472
Artigo de periodico
The rate and role of pseudogenes of the Mycobacterium tuberculosis complex (2022)
Camargo, Naila Cristina Soler ; Pereira, Taiana Tainá Silva ; Zimpel, Cristina Kraemer ; Camacho, Maurício F. ; Zelanis, André ; Aono, Alexandre H. ; Patané, José Salvatore; Santos, Andrea Pires dos ; Guimarães, Ana Marcia de Sá
Source: Microbial Genomics. Unidades: ICB, FMVZ
Subjects: GENÉTICA BACTERIANA, MICROBIOLOGIA, MYCOBACTERIUM TUBERCULOSIS, GENÔMICA, NUCLEOTÍDEOS, RESISTÊNCIA MICROBIANA ÀS DROGAS, ANTIBIÓTICOS, MUTAÇÃO GENÉTICA, VARIAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CAMARGO, Naila Cristina Soler et al. The rate and role of pseudogenes of the Mycobacterium tuberculosis complex. Microbial Genomics, v. 8, n. 10, p. 1-18, 2022Tradução . . Disponível em: https://doi.org/10.1099/mgen.0.000876. Acesso em: 12 jun. 2024.
APA
Camargo, N. C. S., Pereira, T. T. S., Zimpel, C. K., Camacho, M. F., Zelanis, A., Aono, A. H., et al. (2022). The rate and role of pseudogenes of the Mycobacterium tuberculosis complex. Microbial Genomics, 8( 10), 1-18. doi:10.1099/mgen.0.000876
NLM
Camargo NCS, Pereira TTS, Zimpel CK, Camacho MF, Zelanis A, Aono AH, Patané JS, Santos AP dos, Guimarães AM de S. The rate and role of pseudogenes of the Mycobacterium tuberculosis complex [Internet]. Microbial Genomics. 2022 ;8( 10): 1-18.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1099/mgen.0.000876
Vancouver
Camargo NCS, Pereira TTS, Zimpel CK, Camacho MF, Zelanis A, Aono AH, Patané JS, Santos AP dos, Guimarães AM de S. The rate and role of pseudogenes of the Mycobacterium tuberculosis complex [Internet]. Microbial Genomics. 2022 ;8( 10): 1-18.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1099/mgen.0.000876
Artigo de periodico
Sarcoglycanopathies: an update (2021)
Vainzof, Mariz ; Souza, Lucas S; Gurgel-Giannetti, Juliana; Zatz, Mayana
Source: Neuromuscular Disorders. Unidade: IB
Subjects: DISTROFIA MUSCULAR, EXPRESSÃO GÊNICA, MUTAÇÃO GENÉTICA, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VAINZOF, Mariz et al. Sarcoglycanopathies: an update. Neuromuscular Disorders, 2021Tradução . . Disponível em: https://doi.org/10.1016/j.nmd.2021.07.014. Acesso em: 12 jun. 2024.
APA
Vainzof, M., Souza, L. S., Gurgel-Giannetti, J., & Zatz, M. (2021). Sarcoglycanopathies: an update. Neuromuscular Disorders. doi:10.1016/j.nmd.2021.07.014
NLM
Vainzof M, Souza LS, Gurgel-Giannetti J, Zatz M. Sarcoglycanopathies: an update [Internet]. Neuromuscular Disorders. 2021 ;[citado 2024 jun. 12 ] Available from: https://doi.org/10.1016/j.nmd.2021.07.014
Vancouver
Vainzof M, Souza LS, Gurgel-Giannetti J, Zatz M. Sarcoglycanopathies: an update [Internet]. Neuromuscular Disorders. 2021 ;[citado 2024 jun. 12 ] Available from: https://doi.org/10.1016/j.nmd.2021.07.014
Artigo de periodico
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders (2021)
Calpena, Eduardo; Wurmser, Maud; McGowan, Simon J; Atique, Rodrigo; Bertola, Débora R; Cunningham , Michael L; Gustafson, Jonas A; Johnson, David; Morton, Jenny E. V; Passos-Bueno, Maria Rita ; Timberlake, Andre T; Lifton, Richa P; Wall, Steven A; Twigg, Stephen R. F; Maire, Pascal; Wilkie, Andrew O. M
Source: Journal of Medical Genetics. Unidade: IB
Subjects: CRANIOSSINOSTOSE, ANORMALIDADES CRANIOFACIAIS, DOENÇAS CONGÊNITAS, MUTAÇÃO GENÉTICA
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ABNT
CALPENA, Eduardo et al. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics, 2021Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2020-107459. Acesso em: 12 jun. 2024.
APA
Calpena, E., Wurmser, M., McGowan, S. J., Atique, R., Bertola, D. R., Cunningham , M. L., et al. (2021). Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics. doi:10.1136/jmedgenet-2020-107459
NLM
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 jun. 12 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459
Vancouver
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 jun. 12 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459
Artigo de periodico
Whole genome sequencing reveals large deletions and other loss of function mutations in Mycobacterium tuberculosis drug resistance genes (2021)
Gomes, Laura Cordeiro ; Campino, Susana ; Marinho, Claudio Romero Farias ; Clark, Taane Gregory ; Phelan, Jody E.
Source: Microbial Genomics. Unidade: ICB
Subjects: PARASITOLOGIA, MYCOBACTERIUM TUBERCULOSIS, NUCLEOTÍDEOS, GENOMAS, SEQUENCIAMENTO GENÉTICO, MUTAÇÃO GENÉTICA, ANTIBIÓTICOS, RESISTÊNCIA MICROBIANA ÀS DROGAS, TUBERCULOSE
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GOMES, Laura Cordeiro et al. Whole genome sequencing reveals large deletions and other loss of function mutations in Mycobacterium tuberculosis drug resistance genes. Microbial Genomics, v. 7, n. 12, p. 1-7, 2021Tradução . . Disponível em: https://doi.org/10.1099/mgen.0.000724. Acesso em: 12 jun. 2024.
APA
Gomes, L. C., Campino, S., Marinho, C. R. F., Clark, T. G., & Phelan, J. E. (2021). Whole genome sequencing reveals large deletions and other loss of function mutations in Mycobacterium tuberculosis drug resistance genes. Microbial Genomics, 7( 12), 1-7. doi:10.1099/mgen.0.000724
NLM
Gomes LC, Campino S, Marinho CRF, Clark TG, Phelan JE. Whole genome sequencing reveals large deletions and other loss of function mutations in Mycobacterium tuberculosis drug resistance genes [Internet]. Microbial Genomics. 2021 ; 7( 12): 1-7.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1099/mgen.0.000724
Vancouver
Gomes LC, Campino S, Marinho CRF, Clark TG, Phelan JE. Whole genome sequencing reveals large deletions and other loss of function mutations in Mycobacterium tuberculosis drug resistance genes [Internet]. Microbial Genomics. 2021 ; 7( 12): 1-7.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1099/mgen.0.000724
Artigo de periodico
Treatment strategies for glucose-6-phosphate dehydrogenase deficiency: past and future perspectives (2021)
Garcia, Adriana A. ; Koperniku, Ana ; Ferreira, Julio Cesar Batista ; Rosen, Daria Mochly
Source: Trends in Pharmacological Sciences. Unidade: ICB
Subjects: ANATOMIA, AMINOÁCIDOS, ATIVAÇÃO ENZIMÁTICA, GLICOSE, ERITRÓCITOS, ESTRESSE OXIDATIVO, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GARCIA, Adriana A. et al. Treatment strategies for glucose-6-phosphate dehydrogenase deficiency: past and future perspectives. Trends in Pharmacological Sciences, v. 42, n. 10, p. 829-844, 2021Tradução . . Disponível em: https://doi.org/10.1016/j.tips.2021.07.002. Acesso em: 12 jun. 2024.
APA
Garcia, A. A., Koperniku, A., Ferreira, J. C. B., & Rosen, D. M. (2021). Treatment strategies for glucose-6-phosphate dehydrogenase deficiency: past and future perspectives. Trends in Pharmacological Sciences, 42( 10), 829-844. doi:10.1016/j.tips.2021.07.002
NLM
Garcia AA, Koperniku A, Ferreira JCB, Rosen DM. Treatment strategies for glucose-6-phosphate dehydrogenase deficiency: past and future perspectives [Internet]. Trends in Pharmacological Sciences. 2021 ; 42( 10): 829-844.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1016/j.tips.2021.07.002
Vancouver
Garcia AA, Koperniku A, Ferreira JCB, Rosen DM. Treatment strategies for glucose-6-phosphate dehydrogenase deficiency: past and future perspectives [Internet]. Trends in Pharmacological Sciences. 2021 ; 42( 10): 829-844.[citado 2024 jun. 12 ] Available from: https://doi.org/10.1016/j.tips.2021.07.002

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