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Artigo de periodico
Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders (2024)
Tolezano, Giovanna Cantini; Bastos, Giovanna Civitate; Costa, Silvia Souza da; Scliar, Marília de Oliveira; Souza, Carolina Fischinger Moura de; Linden Jr, Hélio Van Der; Fernandes, Walter Luiz Magalhães; Otto, Paulo A ; Vianna-Morgante, Angela M ; Haddad, Luciana Amaral ; Honjo, Rachel Sayuri; Yamamoto, Guilherme Lopes; Kim, Chong Ae; Rosenberg, Carla ; Jorge, Alexander Augusto de Lima ; Bertola, Débora Romeo ; Krepischi, Ana Cristina Victorino
Fonte: Molecular Neurobiology. Unidades: IB, BIOINFORMÁTICA, FM
Assuntos: MICROCEFALIA, NEUROLOGIA, GENÉTICA
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ABNT
TOLEZANO, Giovanna Cantini et al. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders. Molecular Neurobiology, 2024Tradução . . Disponível em: https://doi.org/10.1007/s12035-023-03894-8. Acesso em: 22 ago. 2024.
APA
Tolezano, G. C., Bastos, G. C., Costa, S. S. da, Scliar, M. de O., Souza, C. F. M. de, Linden Jr, H. V. D., et al. (2024). Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders. Molecular Neurobiology. doi:10.1007/s12035-023-03894-8
NLM
Tolezano GC, Bastos GC, Costa SS da, Scliar M de O, Souza CFM de, Linden Jr HVD, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AA de L, Bertola DR, Krepischi ACV. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders [Internet]. Molecular Neurobiology. 2024 ;[citado 2024 ago. 22 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
Vancouver
Tolezano GC, Bastos GC, Costa SS da, Scliar M de O, Souza CFM de, Linden Jr HVD, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AA de L, Bertola DR, Krepischi ACV. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders [Internet]. Molecular Neurobiology. 2024 ;[citado 2024 ago. 22 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
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
Fonte: Journal of Medical Genetics. Unidades: BIOINFORMÁTICA, FM, IB, IQ
Assuntos: 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: 22 ago. 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 ago. 22 ] 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 ago. 22 ] Available from: https://doi.org/10.1136/jmg-2022-109119
Artigo de periodico
Thyroid and breast Cancer in 2 sisters with monoallelic mutations in the ataxia telangiectasia mutated (ATM) gene (2022)
Miasaki, Fabíola Yukiko ; Saito, Kelly Cristina ; Yamamoto, Guilherme Lopes ; Boguszewski, César L. ; Carvalho, Gisah Amaral de ; Kimura, Edna Teruko ; Kopp, Peter A.
Fonte: Journal of the Endocrine Society. Unidade: ICB
Assuntos: BIOLOGIA CELULAR, NEOPLASIAS MAMÁRIAS, NEOPLASIAS DA TIREOIDE, MUTAÇÃO GENÉTICA, ATAXIA, PREDISPOSIÇÃO GENÉTICA PARA DOENÇA, LEUCEMIA
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ABNT
MIASAKI, Fabíola Yukiko et al. Thyroid and breast Cancer in 2 sisters with monoallelic mutations in the ataxia telangiectasia mutated (ATM) gene. Journal of the Endocrine Society, v. 6, n. 4, p. 1-4, 2022Tradução . . Disponível em: https://doi.org/10.1210/jendso/bvac026. Acesso em: 22 ago. 2024.
APA
Miasaki, F. Y., Saito, K. C., Yamamoto, G. L., Boguszewski, C. L., Carvalho, G. A. de, Kimura, E. T., & Kopp, P. A. (2022). Thyroid and breast Cancer in 2 sisters with monoallelic mutations in the ataxia telangiectasia mutated (ATM) gene. Journal of the Endocrine Society, 6( 4), 1-4. doi:10.1210/jendso/bvac026
NLM
Miasaki FY, Saito KC, Yamamoto GL, Boguszewski CL, Carvalho GA de, Kimura ET, Kopp PA. Thyroid and breast Cancer in 2 sisters with monoallelic mutations in the ataxia telangiectasia mutated (ATM) gene [Internet]. Journal of the Endocrine Society. 2022 ; 6( 4): 1-4.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1210/jendso/bvac026
Vancouver
Miasaki FY, Saito KC, Yamamoto GL, Boguszewski CL, Carvalho GA de, Kimura ET, Kopp PA. Thyroid and breast Cancer in 2 sisters with monoallelic mutations in the ataxia telangiectasia mutated (ATM) gene [Internet]. Journal of the Endocrine Society. 2022 ; 6( 4): 1-4.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1210/jendso/bvac026
Artigo de periodico
Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature (2022)
Tolezano, Giovanna Cantini; Bastos, Giovanna Civitate; Costa, Silvia Souza da; Freire, Bruna Lucheze; Homma, Thais Kataoka; Honjo, Rachel Sayuri ; Yamamoto, Guilherme Lopes ; Passos-Bueno, Maria Rita ; Koiffmann, Celia Priszkulnik ; Kim, Chong Ae ; Vianna-Morgante, Angela M ; Jorge, Alexander Augusto de Lima ; Bertola, Débora Romeo ; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino
Fonte: Journal of Autism and Developmental Disorders. Unidades: IB, FM
Assuntos: MICROCEFALIA, REVISÃO SISTEMÁTICA
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ABNT
TOLEZANO, Giovanna Cantini et al. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10803-022-05853-z. Acesso em: 22 ago. 2024.
APA
Tolezano, G. C., Bastos, G. C., Costa, S. S. da, Freire, B. L., Homma, T. K., Honjo, R. S., et al. (2022). Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders. doi:10.1007/s10803-022-05853-z
NLM
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 ago. 22 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Vancouver
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 ago. 22 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Artigo de periodico
TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil (2021)
Bride, Lais; Naslavsky, Michel ; Yamamoto, Guilherme Lopes ; Scliar, Marilia ; Pimassoni, Lucia H. S; Aguiar, Paola Sossai; Paula, Flavia de; Wang, Jaqueline; Duarte, Yeda Aparecida de Oliveira ; Passos-Bueno, Maria Rita ; Zatz, Mayana ; Errera, Flávia Imbroisi Valle
Fonte: PeerJ. Unidades: IB, EE, FM, BIOINFORMÁTICA
Assuntos: GENÉTICA, DIABETES MELLITUS, OBESIDADE, IDOSOS
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ABNT
BRIDE, Lais et al. TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil. PeerJ, v. 9, 2021Tradução . . Disponível em: https://doi.org/10.7717/peerj.11349. Acesso em: 22 ago. 2024.
APA
Bride, L., Naslavsky, M., Yamamoto, G. L., Scliar, M., Pimassoni, L. H. S., Aguiar, P. S., et al. (2021). TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil. PeerJ, 9. doi:10.7717/peerj.11349
NLM
Bride L, Naslavsky M, Yamamoto GL, Scliar M, Pimassoni LHS, Aguiar PS, Paula F de, Wang J, Duarte YA de O, Passos-Bueno MR, Zatz M, Errera FIV. TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil [Internet]. PeerJ. 2021 ; 9[citado 2024 ago. 22 ] Available from: https://doi.org/10.7717/peerj.11349
Vancouver
Bride L, Naslavsky M, Yamamoto GL, Scliar M, Pimassoni LHS, Aguiar PS, Paula F de, Wang J, Duarte YA de O, Passos-Bueno MR, Zatz M, Errera FIV. TCF7L2 rs7903146 polymorphism association with diabetes and obesity in an elderly cohort from Brazil [Internet]. PeerJ. 2021 ; 9[citado 2024 ago. 22 ] Available from: https://doi.org/10.7717/peerj.11349
Artigo de periodico
Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms (2021)
Rocha, Letícia Alves da ; Pires, Lucas Vieira Lacerda ; Yamamoto, Guilherme Lopes ; Ceroni, José Ricardo Magliocco; Honjo, Rachel Sayuri; França Bisneto, Edgard de Novaes; Oliveira, Luiz Antônio Nunes; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino ; Passos-Bueno, Maria Rita ; Kim, Chong Ae ; Bertola, Débora Romeo
Fonte: Clinical Genetics. Unidades: IB, FM
Assuntos: GENÉTICA MÉDICA, DOENÇAS CONGÊNITAS, DOENÇAS GENÉTICAS
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ABNT
ROCHA, Letícia Alves da et al. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, v. 100, n. 5, p. 615-623, 2021Tradução . . Disponível em: https://doi.org/10.1111/cge.14041. Acesso em: 22 ago. 2024.
APA
Rocha, L. A. da, Pires, L. V. L., Yamamoto, G. L., Ceroni, J. R. M., Honjo, R. S., França Bisneto, E. de N., et al. (2021). Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, 100( 5), 615-623. doi:10.1111/cge.14041
NLM
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1111/cge.14041
Vancouver
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1111/cge.14041
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
Fonte: American journal of medical genetics. Part C, Seminars in medical genetics. Unidades: IB, FM
Assuntos: 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: 22 ago. 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 ago. 22 ] 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 ago. 22 ] Available from: https://doi.org/10.1002/ajmg.c.31851
Artigo de periodico
Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom s syndrome cases (2020)
Montenegro, Marilia Moreira ; Quaio, Robledo D'angioli Costa ; Jorge, Patricia Palmeira Daenekas; Oliveira, Yanca Gasparini de ; Rangel‐Santos, Andreia Cristiane; Damasceno, Julian ; Novak, Estela M; Gimenez, Thamires M; Yamamoto, Guilherme Lopes ; Ronjo, Rachel S; Novo‐Filho, Gil Monteiro ; Chehimi, Samar Nasser ; Zanardo, Evelin Aline ; Dias, Alexandre Torchio; Nascimento, Amom Mendes ; Costa, Thais Virgínia Moura Machado; Duarte, Alberto Jose da Silva; Coutinho, Luiz Lehmann ; Kim, Chong Ae ; Kulikowski, Leslie Domenici
Fonte: Molecular Genetics & Genomic Medicine. Unidades: FM, ESALQ
Assuntos: ANORMALIDADES CROMOSSÔMICAS, EXPRESSÃO GÊNICA, IMUNOLOGIA, RNA
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ABNT
MONTENEGRO, Marilia Moreira et al. Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom s syndrome cases. Molecular Genetics & Genomic Medicine, p. 1-10, 2020Tradução . . Disponível em: https://doi.org/10.1002/mgg3.1133. Acesso em: 22 ago. 2024.
APA
Montenegro, M. M., Quaio, R. D. 'angioli C., Jorge, P. P. D., Oliveira, Y. G. de, Rangel‐Santos, A. C., Damasceno, J., et al. (2020). Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom s syndrome cases. Molecular Genetics & Genomic Medicine, 1-10. doi:10.1002/mgg3.1133
NLM
Montenegro MM, Quaio RD'angioli C, Jorge PPD, Oliveira YG de, Rangel‐Santos AC, Damasceno J, Novak EM, Gimenez TM, Yamamoto GL, Ronjo RS, Novo‐Filho GM, Chehimi SN, Zanardo EA, Dias AT, Nascimento AM, Costa TVMM, Duarte AJ da S, Coutinho LL, Kim CA, Kulikowski LD. Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom s syndrome cases [Internet]. Molecular Genetics & Genomic Medicine. 2020 ; 1-10.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1002/mgg3.1133
Vancouver
Montenegro MM, Quaio RD'angioli C, Jorge PPD, Oliveira YG de, Rangel‐Santos AC, Damasceno J, Novak EM, Gimenez TM, Yamamoto GL, Ronjo RS, Novo‐Filho GM, Chehimi SN, Zanardo EA, Dias AT, Nascimento AM, Costa TVMM, Duarte AJ da S, Coutinho LL, Kim CA, Kulikowski LD. Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom s syndrome cases [Internet]. Molecular Genetics & Genomic Medicine. 2020 ; 1-10.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1002/mgg3.1133
Artigo de periodico
Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype (2020)
Souza, Lucas Santos; Almeida, Camila Freitas; Yamamoto, Guilherme Lopes; Pavanello, Rita de Cassia Mingroni; Gurgel-Giannetti, Juliana; Costa, Silvia Souza da; Anequini, Isabela Pessa; Carmo, Silvana Amanda do; Wang, Jaqueline Yu Ting; Zanoteli, Edmar
Fonte: Neurology-genetics. Unidade: FM
Assuntos: FENÓTIPOS, CROMOSSOMO X, GENES, BAÇO
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ABNT
SOUZA, Lucas Santos et al. Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype. Neurology-genetics, v. 6, n. 5, 2020Tradução . . Disponível em: https://doi.org/10.1212/NXG.0000000000000513. Acesso em: 22 ago. 2024.
APA
Souza, L. S., Almeida, C. F., Yamamoto, G. L., Pavanello, R. de C. M., Gurgel-Giannetti, J., Costa, S. S. da, et al. (2020). Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype. Neurology-genetics, 6( 5). doi:10.1212/NXG.0000000000000513
NLM
Souza LS, Almeida CF, Yamamoto GL, Pavanello R de CM, Gurgel-Giannetti J, Costa SS da, Anequini IP, Carmo SA do, Wang JYT, Zanoteli E. Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype [Internet]. Neurology-genetics. 2020 ; 6( 5):[citado 2024 ago. 22 ] Available from: https://doi.org/10.1212/NXG.0000000000000513
Vancouver
Souza LS, Almeida CF, Yamamoto GL, Pavanello R de CM, Gurgel-Giannetti J, Costa SS da, Anequini IP, Carmo SA do, Wang JYT, Zanoteli E. Manifesting carriers of X-linked myotubular myopathy Genetic modifiers modulating the phenotype [Internet]. Neurology-genetics. 2020 ; 6( 5):[citado 2024 ago. 22 ] Available from: https://doi.org/10.1212/NXG.0000000000000513
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
Fonte: Autism Research (Online). Unidades: IB, IP, FM
Assuntos: 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: 22 ago. 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 ago. 22 ] 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 ago. 22 ] Available from: https://doi.org/10.1002/aur.2238
Artigo de periodico
Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes (2019)
Scliar, Marilia O; Anna, Hanaisa P, Sant; L Santolalla, Meddly; Leal , Thiago P; Araújo , Nathalia M; Alvim , Isabela; Borda , Victor; Magalhães , Wagner C. S; Gouveia , Mateus H; Lyra, Ricardo; Machado , Moara; Michelin , Lucas; Rodrigues, Maíra R; Araújo, Gilderlanio S; Kehdy , Fernanda S. G; Zolini , Camila; Peixoto, Sérgio Viana; Luizon , Marcelo; Lobo , Francisco; Naslavsky, Michel ; Yamamoto, Guilherme Lopes ; Duarte, Yeda Aparecida de Oliveira ; Hansen , Matthew E. B; Norris , Shane A; Gilman , Robert H; Guio, Heinner; Hsing , Ann W; Mbulaiteye, Sam M ; Mensah, James; Dutil, Julie; Yeager, Meredith; Yeboah, Edward; Tishkoff, Sarah A; Choudhury, Ananyo; Ramsay, Michele; Passos-Bueno, Maria Rita ; Zatz, Mayana ; O’Connor, Timothy D; Pereira, Alexandre C; Barreto, Mauricio L; Lima-Costa, Maria Fernanda; Horta, Bernardo L; Tarazona-Santos, Eduardo
Fonte: BioRxiv. Unidades: IB, EE, FM
Assuntos: FENÓTIPOS, MUTAÇÃO GENÉTICA, VARIAÇÃO GENÉTICA, GENOMAS
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ABNT
SCLIAR, Marilia O et al. Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes. BioRxiv, 2019Tradução . . Disponível em: https://doi.org/10.1101/827311. Acesso em: 22 ago. 2024.
APA
Scliar, M. O., Anna, H. P., L Santolalla, M., Leal , T. P., Araújo , N. M., Alvim , I., et al. (2019). Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes. BioRxiv. doi:10.1101/827311
NLM
Scliar MO, Anna HP, L Santolalla M, Leal TP, Araújo NM, Alvim I, Borda V, Magalhães WCS, Gouveia MH, Lyra R, Machado M, Michelin L, Rodrigues MR, Araújo GS, Kehdy FSG, Zolini C, Peixoto SV, Luizon M, Lobo F, Naslavsky M, Yamamoto GL, Duarte YA de O, Hansen MEB, Norris SA, Gilman RH, Guio H, Hsing AW, Mbulaiteye SM, Mensah J, Dutil J, Yeager M, Yeboah E, Tishkoff SA, Choudhury A, Ramsay M, Passos-Bueno MR, Zatz M, O’Connor TD, Pereira AC, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E. Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes [Internet]. BioRxiv. 2019 ;[citado 2024 ago. 22 ] Available from: https://doi.org/10.1101/827311
Vancouver
Scliar MO, Anna HP, L Santolalla M, Leal TP, Araújo NM, Alvim I, Borda V, Magalhães WCS, Gouveia MH, Lyra R, Machado M, Michelin L, Rodrigues MR, Araújo GS, Kehdy FSG, Zolini C, Peixoto SV, Luizon M, Lobo F, Naslavsky M, Yamamoto GL, Duarte YA de O, Hansen MEB, Norris SA, Gilman RH, Guio H, Hsing AW, Mbulaiteye SM, Mensah J, Dutil J, Yeager M, Yeboah E, Tishkoff SA, Choudhury A, Ramsay M, Passos-Bueno MR, Zatz M, O’Connor TD, Pereira AC, Barreto ML, Lima-Costa MF, Horta BL, Tarazona-Santos E. Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass- and fat mass-indexes [Internet]. BioRxiv. 2019 ;[citado 2024 ago. 22 ] Available from: https://doi.org/10.1101/827311
Trabalho de evento-resumo
Pathogenic loss of function in genes associated to monogenic pediatric disorders in healthy elderly Brazilians improves molecular diagnosis interpretation (2019)
Naslavsky, Michel ; Yamamoto, Guilherme Lopes ; Scliar, M. O; Wang, J; Duarte, Yeda Aparecida de Oliveira ; Passos-Bueno, Maria Rita ; Zatz, Mayana
Fonte: Abstracts. Nome do evento: ASHG Annual Meeting. Unidades: EE, IB, BIOINFORMÁTICA, FM
Assuntos: GENÉTICA, IDOSOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NASLAVSKY, Michel et al. Pathogenic loss of function in genes associated to monogenic pediatric disorders in healthy elderly Brazilians improves molecular diagnosis interpretation. 2019, Anais.. Houston: Escola de Enfermagem, Universidade de São Paulo, 2019. Disponível em: https://www.ashg.org/wp-content/uploads/2019/10/ASHG-2019-poster-abstracts.pdf. Acesso em: 22 ago. 2024.
APA
Naslavsky, M., Yamamoto, G. L., Scliar, M. O., Wang, J., Duarte, Y. A. de O., Passos-Bueno, M. R., & Zatz, M. (2019). Pathogenic loss of function in genes associated to monogenic pediatric disorders in healthy elderly Brazilians improves molecular diagnosis interpretation. In Abstracts. Houston: Escola de Enfermagem, Universidade de São Paulo. Recuperado de https://www.ashg.org/wp-content/uploads/2019/10/ASHG-2019-poster-abstracts.pdf
NLM
Naslavsky M, Yamamoto GL, Scliar MO, Wang J, Duarte YA de O, Passos-Bueno MR, Zatz M. Pathogenic loss of function in genes associated to monogenic pediatric disorders in healthy elderly Brazilians improves molecular diagnosis interpretation [Internet]. Abstracts. 2019 ;[citado 2024 ago. 22 ] Available from: https://www.ashg.org/wp-content/uploads/2019/10/ASHG-2019-poster-abstracts.pdf
Vancouver
Naslavsky M, Yamamoto GL, Scliar MO, Wang J, Duarte YA de O, Passos-Bueno MR, Zatz M. Pathogenic loss of function in genes associated to monogenic pediatric disorders in healthy elderly Brazilians improves molecular diagnosis interpretation [Internet]. Abstracts. 2019 ;[citado 2024 ago. 22 ] Available from: https://www.ashg.org/wp-content/uploads/2019/10/ASHG-2019-poster-abstracts.pdf
Trabalho de evento-resumo
Tracking major histocompatibility complex mapping and genotyping errors when using conventional read aligners (2019)
Souza, Andréia da Silva; Lima, Thálitta Hetamaro Ayala; Andrade, Heloisa de Souza; Weiss, Emiliana; Silva, Nayane dos Santos Brito; Passos, Marília Rodrigues Silva; Castro, Camila Ferreira Bannwart; Wang, Jaqueline; Scliar, Marilia O.; Yamamoto, Guilherme Lopes ; Duarte, Yeda Aparecida de Oliveira ; Zatz, Mayana ; Naslavsky, Michel ; Passos-Bueno, Maria Rita ; Meyer, Diogo ; Mendes Júnior, Celso Teixeira ; Castelli, Erick C.
Fonte: Resumos. Nome do evento: Brazilian Congress of Genetics. Unidades: FFCLRP, IB, EE
Assuntos: MAPEAMENTO GENÉTICO, GENOMAS, SEQUENCIAMENTO GENÉTICO, GENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SOUZA, Andréia da Silva et al. Tracking major histocompatibility complex mapping and genotyping errors when using conventional read aligners. 2019, Anais.. Águas de Lindóia: Sociedade Brasileira de Genética, 2019. Disponível em: https://www.sbg.org.br/sites/default/files/e_book_genetica2019_online_0.pdf. Acesso em: 22 ago. 2024.
APA
Souza, A. da S., Lima, T. H. A., Andrade, H. de S., Weiss, E., Silva, N. dos S. B., Passos, M. R. S., et al. (2019). Tracking major histocompatibility complex mapping and genotyping errors when using conventional read aligners. In Resumos. Águas de Lindóia: Sociedade Brasileira de Genética. Recuperado de https://www.sbg.org.br/sites/default/files/e_book_genetica2019_online_0.pdf
NLM
Souza A da S, Lima THA, Andrade H de S, Weiss E, Silva N dos SB, Passos MRS, Castro CFB, Wang J, Scliar MO, Yamamoto GL, Duarte YA de O, Zatz M, Naslavsky M, Passos-Bueno MR, Meyer D, Mendes Júnior CT, Castelli EC. Tracking major histocompatibility complex mapping and genotyping errors when using conventional read aligners [Internet]. Resumos. 2019 ;[citado 2024 ago. 22 ] Available from: https://www.sbg.org.br/sites/default/files/e_book_genetica2019_online_0.pdf
Vancouver
Souza A da S, Lima THA, Andrade H de S, Weiss E, Silva N dos SB, Passos MRS, Castro CFB, Wang J, Scliar MO, Yamamoto GL, Duarte YA de O, Zatz M, Naslavsky M, Passos-Bueno MR, Meyer D, Mendes Júnior CT, Castelli EC. Tracking major histocompatibility complex mapping and genotyping errors when using conventional read aligners [Internet]. Resumos. 2019 ;[citado 2024 ago. 22 ] Available from: https://www.sbg.org.br/sites/default/files/e_book_genetica2019_online_0.pdf
Trabalho de evento-resumo
An overview of the HLA-B coding and protein variability (2019)
Silva, Nayane dos Santos Brito; Souza, Andreia da Silva; Lima, Thálita Hetamaro Ayala; Andrade, Heloisa A.; Passos, Marília A.; Castro, Camila Ferreira Bannwart; Wang, Jaqueline; Scliar, Marilia O.; Yamamoto, Guilherme Lopes ; Duarte, Yeda Aparecida de Oliveira ; Zatz, Mayana ; Naslavsky, Michel ; Passos-Bueno, Maria Rita ; Meyer, Diogo ; Mendes Júnior, Celso Teixeira ; Castelli, Erick C.
Fonte: Resumos. Nome do evento: Brazilian Congress of Genetics. Unidades: FFCLRP, EE, IB
Assuntos: POLIMORFISMO, ANTÍGENOS HLA, SEQUENCIAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SILVA, Nayane dos Santos Brito et al. An overview of the HLA-B coding and protein variability. 2019, Anais.. Águas de Lindóia: Sociedade Brasileira de Genética, 2019. Disponível em: https://www.sbg.org.br/sites/default/files/e_book_genetica2019_online_0.pdf. Acesso em: 22 ago. 2024.
APA
Silva, N. dos S. B., Souza, A. da S., Lima, T. H. A., Andrade, H. A., Passos, M. A., Castro, C. F. B., et al. (2019). An overview of the HLA-B coding and protein variability. In Resumos. Águas de Lindóia: Sociedade Brasileira de Genética. Recuperado de https://www.sbg.org.br/sites/default/files/e_book_genetica2019_online_0.pdf
NLM
Silva N dos SB, Souza A da S, Lima THA, Andrade HA, Passos MA, Castro CFB, Wang J, Scliar MO, Yamamoto GL, Duarte YA de O, Zatz M, Naslavsky M, Passos-Bueno MR, Meyer D, Mendes Júnior CT, Castelli EC. An overview of the HLA-B coding and protein variability [Internet]. Resumos. 2019 ;[citado 2024 ago. 22 ] Available from: https://www.sbg.org.br/sites/default/files/e_book_genetica2019_online_0.pdf
Vancouver
Silva N dos SB, Souza A da S, Lima THA, Andrade HA, Passos MA, Castro CFB, Wang J, Scliar MO, Yamamoto GL, Duarte YA de O, Zatz M, Naslavsky M, Passos-Bueno MR, Meyer D, Mendes Júnior CT, Castelli EC. An overview of the HLA-B coding and protein variability [Internet]. Resumos. 2019 ;[citado 2024 ago. 22 ] Available from: https://www.sbg.org.br/sites/default/files/e_book_genetica2019_online_0.pdf
Artigo de periodico
Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells (2018)
Caires-Júnior, Luiz Carlos; Goulart, Ernesto ; Melo, Uirá Souto; Araujo, Bruno Silva Henrique; Alvizi, Lucas; Schanoski, Alessandra Soares; Oliveira, Danyllo Felipe de; Kobayashi, Gerson Shigeru; Griesi-Oliveira, Karina; Musso, Camila Manso; Amaral, Murilo Sena; Silva, Lucas Ferreira da; Astray, Renato Mancini ; Suarez Patiño, Sandra Fernanda; Monteiro, Daniella Cristina Ventini; Silva, Sérgio Gomes da; Yamamoto, Guilherme Lopes; Ezquina, Suzana; Naslavsky, Michel ; Silva, Kayque Telles Alves; Weinmann, Karina; Linden, Vanessa van der; Linden, Helio Van der; Oliveira, João Mendes Ricardo de; Arrais, Nivia Rodrigues Maria; Melo, Adriana; Figueiredo, Thalita; Santos, Silvana; Meira, Joanna Goes Castro; Passos, Saulo Duarte; Almeida, Roque Pacheco de; Bispo, Ana Jovina Barreto; Cavalheiro, Esper Abrão; Kalil, Jorge; Cunha-Neto, Edécio; Nakaya, Helder Takashi Imoto ; Santos, Robert Andreata; Ferreira, Luís Carlos de Souza ; Verjovski-Almeida, Sergio ; Ho, Paulo Lee; Passos-Bueno, Maria Rita ; Zatz, Mayana
Fonte: Nature Communications. Unidades: FM, FCF, ICB, IQ, IB
Assuntos: ZIKA VÍRUS, GÊMEOS, MALFORMAÇÕES, EXPRESSÃO GÊNICA, TRANSMISSÃO DE DOENÇAS, MICROCEFALIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CAIRES-JÚNIOR, Luiz Carlos et al. Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells. Nature Communications, v. 9, p. 1-2, 2018Tradução . . Disponível em: https://doi.org/10.1038/s41467-018-03497-1. Acesso em: 22 ago. 2024.
APA
Caires-Júnior, L. C., Goulart, E., Melo, U. S., Araujo, B. S. H., Alvizi, L., Schanoski, A. S., et al. (2018). Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells. Nature Communications, 9, 1-2. doi:10.1038/s41467-018-03497-1
NLM
Caires-Júnior LC, Goulart E, Melo US, Araujo BSH, Alvizi L, Schanoski AS, Oliveira DF de, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, Silva LF da, Astray RM, Suarez Patiño SF, Monteiro DCV, Silva SG da, Yamamoto GL, Ezquina S, Naslavsky M, Silva KTA, Weinmann K, Linden V van der, Linden HV der, Oliveira JMR de, Arrais NRM, Melo A, Figueiredo T, Santos S, Meira JGC, Passos SD, Almeida RP de, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya HTI, Santos RA, Ferreira LC de S, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M. Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells [Internet]. Nature Communications. 2018 ; 9 1-2.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1038/s41467-018-03497-1
Vancouver
Caires-Júnior LC, Goulart E, Melo US, Araujo BSH, Alvizi L, Schanoski AS, Oliveira DF de, Kobayashi GS, Griesi-Oliveira K, Musso CM, Amaral MS, Silva LF da, Astray RM, Suarez Patiño SF, Monteiro DCV, Silva SG da, Yamamoto GL, Ezquina S, Naslavsky M, Silva KTA, Weinmann K, Linden V van der, Linden HV der, Oliveira JMR de, Arrais NRM, Melo A, Figueiredo T, Santos S, Meira JGC, Passos SD, Almeida RP de, Bispo AJB, Cavalheiro EA, Kalil J, Cunha-Neto E, Nakaya HTI, Santos RA, Ferreira LC de S, Verjovski-Almeida S, Ho PL, Passos-Bueno MR, Zatz M. Publisher Correction: Discordant congenital Zika syndrome twins show differential in vitro viral susceptibility of neural progenitor cells [Internet]. Nature Communications. 2018 ; 9 1-2.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1038/s41467-018-03497-1
Artigo de periodico
Actin cytoskeleton dynamics in stem cells from autistic individuals (2018)
Oliveira, Karina Griesi; Suzuki, Angela May; Alves, Aline Yasuda; Mafra, Ana Carolina Cintra Nunes; Yamamoto, Guilherme Lopes; Ezquina, Suzana; Magalhães, Yuli Thamires; Forti, Fabio Luis ; Sertié, Andréa Laurato; Zachi, Elaine Cristina; Vadasz, Estêvão; Passos-Bueno, Maria Rita
Fonte: Scientific Reports. Unidades: IQ, IB
Assuntos: CITOESQUELETO, CÉLULAS-TRONCO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
OLIVEIRA, Karina Griesi et al. Actin cytoskeleton dynamics in stem cells from autistic individuals. Scientific Reports, v. 8, n. 1, p. 1-10 art. 11138, 2018Tradução . . Disponível em: https://doi.org/10.1038/s41598-018-29309-6. Acesso em: 22 ago. 2024.
APA
Oliveira, K. G., Suzuki, A. M., Alves, A. Y., Mafra, A. C. C. N., Yamamoto, G. L., Ezquina, S., et al. (2018). Actin cytoskeleton dynamics in stem cells from autistic individuals. Scientific Reports, 8( 1), 1-10 art. 11138. doi:10.1038/s41598-018-29309-6
NLM
Oliveira KG, Suzuki AM, Alves AY, Mafra ACCN, Yamamoto GL, Ezquina S, Magalhães YT, Forti FL, Sertié AL, Zachi EC, Vadasz E, Passos-Bueno MR. Actin cytoskeleton dynamics in stem cells from autistic individuals [Internet]. Scientific Reports. 2018 ; 8( 1): 1-10 art. 11138.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1038/s41598-018-29309-6
Vancouver
Oliveira KG, Suzuki AM, Alves AY, Mafra ACCN, Yamamoto GL, Ezquina S, Magalhães YT, Forti FL, Sertié AL, Zachi EC, Vadasz E, Passos-Bueno MR. Actin cytoskeleton dynamics in stem cells from autistic individuals [Internet]. Scientific Reports. 2018 ; 8( 1): 1-10 art. 11138.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1038/s41598-018-29309-6
Artigo de periodico
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects (2018)
Nonose, Renata Watanabe; Lezirovitz, Karina; Auricchio, Maria Teresa Balester De Mello; Batissoco, Ana Carla; Yamamoto, Guilherme Lopes; Mingroni Netto, Regina Celia
Fonte: BMC Medical Genetics. Unidade: IB
Assuntos: SURDEZ, HEREDITARIEDADE, MUTAÇÃO GENÉTICA, PERDA AUDITIVA BILATERAL, PACIENTES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NONOSE, Renata Watanabe et al. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects. BMC Medical Genetics, v. 19, p. 1-10, 2018Tradução . . Disponível em: https://doi.org/10.1186/s12881-018-0585-x. Acesso em: 22 ago. 2024.
APA
Nonose, R. W., Lezirovitz, K., Auricchio, M. T. B. D. M., Batissoco, A. C., Yamamoto, G. L., & Mingroni Netto, R. C. (2018). Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects. BMC Medical Genetics, 19, 1-10. doi:10.1186/s12881-018-0585-x
NLM
Nonose RW, Lezirovitz K, Auricchio MTBDM, Batissoco AC, Yamamoto GL, Mingroni Netto RC. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects [Internet]. BMC Medical Genetics. 2018 ; 19 1-10.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1186/s12881-018-0585-x
Vancouver
Nonose RW, Lezirovitz K, Auricchio MTBDM, Batissoco AC, Yamamoto GL, Mingroni Netto RC. Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing- impaired subjects [Internet]. BMC Medical Genetics. 2018 ; 19 1-10.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1186/s12881-018-0585-x
Artigo de periodico
Natural history of 39 patients with Achondroplasia (2018)
Ceroni, Jose Ricardo Magliocco; Kim, Chong Ae; Soares, Diogo Cordeiro de Queiroz; Testai, Larissa de Cassia; Kawahira, Rachel Sayuri Honjo; Yamamoto, Guilherme Lopes; Sugayama, Sofia Mizuho Miura; Oliveira, Luiz Antonio Nunes de; Bertola, Debora Romeo
Fonte: Clinics. Unidade: FM
Assuntos: DIAGNÓSTICO CLÍNICO, SINAIS E SINTOMAS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CERONI, Jose Ricardo Magliocco et al. Natural history of 39 patients with Achondroplasia. Clinics, v. 73, 2018Tradução . . Disponível em: https://doi.org/10.6061/clinics/2018/e324. Acesso em: 22 ago. 2024.
APA
Ceroni, J. R. M., Kim, C. A., Soares, D. C. de Q., Testai, L. de C., Kawahira, R. S. H., Yamamoto, G. L., et al. (2018). Natural history of 39 patients with Achondroplasia. Clinics, 73. doi:10.6061/clinics/2018/e324
NLM
Ceroni JRM, Kim CA, Soares DC de Q, Testai L de C, Kawahira RSH, Yamamoto GL, Sugayama SMM, Oliveira LAN de, Bertola DR. Natural history of 39 patients with Achondroplasia [Internet]. Clinics. 2018 ; 73[citado 2024 ago. 22 ] Available from: https://doi.org/10.6061/clinics/2018/e324
Vancouver
Ceroni JRM, Kim CA, Soares DC de Q, Testai L de C, Kawahira RSH, Yamamoto GL, Sugayama SMM, Oliveira LAN de, Bertola DR. Natural history of 39 patients with Achondroplasia [Internet]. Clinics. 2018 ; 73[citado 2024 ago. 22 ] Available from: https://doi.org/10.6061/clinics/2018/e324
Trabalho de evento-resumo
Cancer mutations in healthy admixed elderly: can we improve pathogenicity interpretation? (2018)
Naslavsky, Michel ; Yamamoto, Guilherme Lopes ; Ezquina, Suzana ; Duarte, Yeda Aparecida de Oliveira ; Passos-Bueno, Maria Rita ; Zatz, Mayana
Fonte: Abstracts. Nome do evento: ASHI Annual Meeting. Unidades: EE, IB, FM, BIOINFORMÁTICA
Assuntos: NEOPLASIAS, IDOSOS, SEQUENCIAMENTO GENÉTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NASLAVSKY, Michel et al. Cancer mutations in healthy admixed elderly: can we improve pathogenicity interpretation? 2018, Anais.. Baltimore: Escola de Enfermagem, Universidade de São Paulo, 2018. . Acesso em: 22 ago. 2024.
APA
Naslavsky, M., Yamamoto, G. L., Ezquina, S., Duarte, Y. A. de O., Passos-Bueno, M. R., & Zatz, M. (2018). Cancer mutations in healthy admixed elderly: can we improve pathogenicity interpretation? In Abstracts. Baltimore: Escola de Enfermagem, Universidade de São Paulo.
NLM
Naslavsky M, Yamamoto GL, Ezquina S, Duarte YA de O, Passos-Bueno MR, Zatz M. Cancer mutations in healthy admixed elderly: can we improve pathogenicity interpretation? Abstracts. 2018 ;[citado 2024 ago. 22 ]
Vancouver
Naslavsky M, Yamamoto GL, Ezquina S, Duarte YA de O, Passos-Bueno MR, Zatz M. Cancer mutations in healthy admixed elderly: can we improve pathogenicity interpretation? Abstracts. 2018 ;[citado 2024 ago. 22 ]
Artigo de periodico
Exomic variants of an elderly cohort of Brazilians in the ABraOM database (2017)
Naslavsky, Michel ; Yamamoto, Guilherme Lopes; Almeida, Tatiana Ferreira de; Ezquina, Suzana A. M; Sunaga, Daniele Yumi; Pho, Nam; Bozoklian, Daniel; Sandberg, Tatiana Orli Milkewitz; Brito, Luciano Abreu; Lazar, Monize; Bernardo, Danilo Vicensotto; Amaro Jr., Edson; Duarte, Yeda Aparecida de Oliveira ; Lebrão, Maria Lúcia; Passos-Bueno, Maria Rita ; Zatz, Mayana
Fonte: Human Mutation. Unidades: IB, FM, EE
Assuntos: GENÉTICA MÉDICA, GENÉTICA DE POPULAÇÕES, ENVELHECIMENTO, ESTUDOS DE COORTES, ESTUDOS LONGITUDINAIS, SAÚDE DO IDOSO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
NASLAVSKY, Michel et al. Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Human Mutation, p. 1-13, 2017Tradução . . Disponível em: https://doi.org/10.1002/humu.23220. Acesso em: 22 ago. 2024.
APA
Naslavsky, M., Yamamoto, G. L., Almeida, T. F. de, Ezquina, S. A. M., Sunaga, D. Y., Pho, N., et al. (2017). Exomic variants of an elderly cohort of Brazilians in the ABraOM database. Human Mutation, 1-13. doi:10.1002/humu.23220
NLM
Naslavsky M, Yamamoto GL, Almeida TF de, Ezquina SAM, Sunaga DY, Pho N, Bozoklian D, Sandberg TOM, Brito LA, Lazar M, Bernardo DV, Amaro Jr. E, Duarte YA de O, Lebrão ML, Passos-Bueno MR, Zatz M. Exomic variants of an elderly cohort of Brazilians in the ABraOM database [Internet]. Human Mutation. 2017 ; 1-13.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1002/humu.23220
Vancouver
Naslavsky M, Yamamoto GL, Almeida TF de, Ezquina SAM, Sunaga DY, Pho N, Bozoklian D, Sandberg TOM, Brito LA, Lazar M, Bernardo DV, Amaro Jr. E, Duarte YA de O, Lebrão ML, Passos-Bueno MR, Zatz M. Exomic variants of an elderly cohort of Brazilians in the ABraOM database [Internet]. Human Mutation. 2017 ; 1-13.[citado 2024 ago. 22 ] Available from: https://doi.org/10.1002/humu.23220

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