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Artigo de periodico
Nemaline myopathy in Brazilian patients: molecular and clinical characterization (2022)
Gurgel-Giannetti, Juliana; Souza, Lucas Santos; Yamamoto, Guilherme L ; Belisario, Marina; Lazar, Monize; Campos, Wilson; Pavanello, Rita de Cassia M; Zatz, Mayana ; Reed, Umbertina Conti ; Zanoteli, Edmar ; Oliveira, Acary Bulle; Lehtokari, Vilma-Lotta; Casella, Erasmo B; Machado-Costa, Marcela C; Wallgren-Pettersson, Carina; Laing, Nigel G; Nigro, Vincenzo; Vainzof, Mariz
Fonte: International Journal of Molecular Sciences. Unidades: IB, FM
Assuntos: GENÉTICA MÉDICA, DOENÇAS NEUROMUSCULARES, NEUROLOGIA, MIOPATIAS CONGÊNITAS ESTRUTURAIS
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GURGEL-GIANNETTI, Juliana et al. Nemaline myopathy in Brazilian patients: molecular and clinical characterization. International Journal of Molecular Sciences, v. 23, n. 19, 2022Tradução . . Disponível em: https://doi.org/10.3390/ijms231911995. Acesso em: 23 jul. 2024.
APA
Gurgel-Giannetti, J., Souza, L. S., Yamamoto, G. L., Belisario, M., Lazar, M., Campos, W., et al. (2022). Nemaline myopathy in Brazilian patients: molecular and clinical characterization. International Journal of Molecular Sciences, 23( 19). doi:10.3390/ijms231911995
NLM
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello R de CM, Zatz M, Reed UC, Zanoteli E, Oliveira AB, Lehtokari V-L, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Nemaline myopathy in Brazilian patients: molecular and clinical characterization [Internet]. International Journal of Molecular Sciences. 2022 ; 23( 19):[citado 2024 jul. 23 ] Available from: https://doi.org/10.3390/ijms231911995
Vancouver
Gurgel-Giannetti J, Souza LS, Yamamoto GL, Belisario M, Lazar M, Campos W, Pavanello R de CM, Zatz M, Reed UC, Zanoteli E, Oliveira AB, Lehtokari V-L, Casella EB, Machado-Costa MC, Wallgren-Pettersson C, Laing NG, Nigro V, Vainzof M. Nemaline myopathy in Brazilian patients: molecular and clinical characterization [Internet]. International Journal of Molecular Sciences. 2022 ; 23( 19):[citado 2024 jul. 23 ] Available from: https://doi.org/10.3390/ijms231911995
Artigo de periodico
Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer (2021)
Bandeira, Gabriel; Rocha, Katia; Lazar, Monize; Ezquina, Suzana; Yamamoto, Guilherme ; Varela, Monica; Takahashi, Vanessa; Aguena, Meire; Gollop, Thomaz; Zatz, Mayana ; Passos-Bueno, Maria Rita ; Krepischi, Ana Cristina Victorino ; Okamoto, Oswaldo Keith
Fonte: Breast Cancer. Unidades: IB, BIOINFORMÁTICA, FM
Assuntos: NEOPLASIAS MAMÁRIAS, NEOPLASIAS OVARIANAS, DOENÇAS HEREDITÁRIAS, GENÉTICA
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BANDEIRA, Gabriel et al. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. Breast Cancer, v. 28, n. 2, p. 346-354, 2021Tradução . . Disponível em: https://doi.org/10.1007/s12282-020-01165-1. Acesso em: 23 jul. 2024.
APA
Bandeira, G., Rocha, K., Lazar, M., Ezquina, S., Yamamoto, G., Varela, M., et al. (2021). Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. Breast Cancer, 28( 2), 346-354. doi:10.1007/s12282-020-01165-1
NLM
Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi ACV, Okamoto OK. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer [Internet]. Breast Cancer. 2021 ; 28( 2): 346-354.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1007/s12282-020-01165-1
Vancouver
Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi ACV, Okamoto OK. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer [Internet]. Breast Cancer. 2021 ; 28( 2): 346-354.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1007/s12282-020-01165-1
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
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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: 23 jul. 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 jul. 23 ] 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 jul. 23 ] Available from: https://doi.org/10.1002/humu.23220
Artigo de periodico
Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) (2016)
Moreira, Eloisa S; Silva, Isabela M.W; Lourenço, Naila; Moreira, Danielle P; Ribeiro, Cintia M; Martins, Ana Luiza B; Griesi-Oliveira, Karina; Lazar, Monize; Costa, Sílvia S; Naslavsky, Michel ; Rocha, Kátia M; Aguena, Meire; Fett-Conte, Agnes C; Zatz, Mayana ; Rosenberg, Carla ; Zachi, Elaine C; Bertola, Débora R; Vadasz, Estevão; Passos-Bueno, Maria Rita
Fonte: Research in Autism Spectrum Disorders. Unidade: IB
Assuntos: AUTISMO, DOENÇAS GENÉTICAS, SEQUENCIAMENTO GENÉTICO, SEQUENCIAMENTO GENÉTICO, INTERAÇÃO SOCIAL (COMPORTAMENTO SOCIAL), TRANSTORNOS GLOBAIS DO DESENVOLVIMENTO INFANTIL
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MOREIRA, Eloisa S et al. Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH). Research in Autism Spectrum Disorders, v. 23, p. 145-151, 2016Tradução . . Disponível em: https://doi.org/10.1016/j.rasd.2015.12.012. Acesso em: 23 jul. 2024.
APA
Moreira, E. S., Silva, I. M. W., Lourenço, N., Moreira, D. P., Ribeiro, C. M., Martins, A. L. B., et al. (2016). Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH). Research in Autism Spectrum Disorders, 23, 145-151. doi:10.1016/j.rasd.2015.12.012
NLM
Moreira ES, Silva IMW, Lourenço N, Moreira DP, Ribeiro CM, Martins ALB, Griesi-Oliveira K, Lazar M, Costa SS, Naslavsky M, Rocha KM, Aguena M, Fett-Conte AC, Zatz M, Rosenberg C, Zachi EC, Bertola DR, Vadasz E, Passos-Bueno MR. Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) [Internet]. Research in Autism Spectrum Disorders. 2016 ; 23 145-151.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1016/j.rasd.2015.12.012
Vancouver
Moreira ES, Silva IMW, Lourenço N, Moreira DP, Ribeiro CM, Martins ALB, Griesi-Oliveira K, Lazar M, Costa SS, Naslavsky M, Rocha KM, Aguena M, Fett-Conte AC, Zatz M, Rosenberg C, Zachi EC, Bertola DR, Vadasz E, Passos-Bueno MR. Detection of small copy number variations (CNVs) in autism spectrum disorder (ASD) by custom array comparative genomic hybridization (aCGH) [Internet]. Research in Autism Spectrum Disorders. 2016 ; 23 145-151.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1016/j.rasd.2015.12.012
Artigo de periodico
Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility (2015)
Toledo, Rodrigo A.; Hatakana, Roxanne; Lourenço Jr, Delmar M.; Lindsey, Susan C.; Camacho, Cleber P.; Almeida, Marcio; Lima Jr, José V.; Sekiya, Tomoko; Garralda, Elena; Naslavsky, Michel ; Yamamoto, Guilherme L.; Lazar, Monize; Meirelles, Osorio; Sobreira, Tiago J. P.; Lebrao, Maria Lucia; Duarte, Yeda Aparecida de Oliveira ; Blangero, John; Zatz, Mayana ; Cerutti, Janete M.; Maciel, Rui M. B.; Toledo, Sergio P. A.
Fonte: Endocrine - Related Cancer. Unidades: FSP, EE, IB, FM
Assuntos: NEOPLASIA ENDÓCRINA MÚLTIPLA, PROTO-ONCOGENES
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ABNT
TOLEDO, Rodrigo A. et al. Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility. Endocrine - Related Cancer, v. 22, n. 2, 2015Tradução . . Disponível em: https://doi.org/10.1530/ERC-14-0491. Acesso em: 23 jul. 2024.
APA
Toledo, R. A., Hatakana, R., Lourenço Jr, D. M., Lindsey, S. C., Camacho, C. P., Almeida, M., et al. (2015). Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility. Endocrine - Related Cancer, 22( 2). doi:10.1530/ERC-14-0491
NLM
Toledo RA, Hatakana R, Lourenço Jr DM, Lindsey SC, Camacho CP, Almeida M, Lima Jr JV, Sekiya T, Garralda E, Naslavsky M, Yamamoto GL, Lazar M, Meirelles O, Sobreira TJP, Lebrao ML, Duarte YA de O, Blangero J, Zatz M, Cerutti JM, Maciel RMB, Toledo SPA. Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility [Internet]. Endocrine - Related Cancer. 2015 ; 22( 2):[citado 2024 jul. 23 ] Available from: https://doi.org/10.1530/ERC-14-0491
Vancouver
Toledo RA, Hatakana R, Lourenço Jr DM, Lindsey SC, Camacho CP, Almeida M, Lima Jr JV, Sekiya T, Garralda E, Naslavsky M, Yamamoto GL, Lazar M, Meirelles O, Sobreira TJP, Lebrao ML, Duarte YA de O, Blangero J, Zatz M, Cerutti JM, Maciel RMB, Toledo SPA. Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility [Internet]. Endocrine - Related Cancer. 2015 ; 22( 2):[citado 2024 jul. 23 ] Available from: https://doi.org/10.1530/ERC-14-0491
Artigo de periodico
Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy (2014)
Yamamoto, Guilherme L.; Baratela, Wagner A. R.; Almeida, Tatiana F.; Lazar, Monize; Afonso, Clara L.; Oyamada, Maria K.; Suzuki, Lisa; Oliveira, Luiz A. N.; Ramos, Ester Silveira; Kim, Chong Ae; Passos-Bueno, Maria Rita ; Bertola, Débora Romeo
Fonte: American Journal of Human Genetics. Unidades: FMRP, FM, IB
Assuntos: OFTALMOLOGIA (MÉTODOS), DOENÇAS RETINIANAS (GENÉTICA)
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ABNT
YAMAMOTO, Guilherme L. et al. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics, v. 94, n. 1, p. 113-119, 2014Tradução . . Disponível em: https://doi.org/10.1016/j.ajhg.2013.11.022. Acesso em: 23 jul. 2024.
APA
Yamamoto, G. L., Baratela, W. A. R., Almeida, T. F., Lazar, M., Afonso, C. L., Oyamada, M. K., et al. (2014). Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. American Journal of Human Genetics, 94( 1), 113-119. doi:10.1016/j.ajhg.2013.11.022
NLM
Yamamoto GL, Baratela WAR, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LAN, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy [Internet]. American Journal of Human Genetics. 2014 ; 94( 1): 113-119.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1016/j.ajhg.2013.11.022
Vancouver
Yamamoto GL, Baratela WAR, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LAN, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy [Internet]. American Journal of Human Genetics. 2014 ; 94( 1): 113-119.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1016/j.ajhg.2013.11.022
Artigo de periodico
Assessing pathogenicity for novel mutation/sequence variants: healthy older individuals (2012)
Zatz, Mayana ; Pavanello, Rita de Cássia M; Lourenço, Naila Cristina V; Cerqueira, Antonia Maria Pereira de; Lazar, Monize; Vainzof, Mariz
Fonte: Neuromolecular Medicine. Unidade: IB
Assuntos: SEQUENCIAMENTO GENÉTICO, GENOMAS, MUTAÇÃO GENÉTICA
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ZATZ, Mayana et al. Assessing pathogenicity for novel mutation/sequence variants: healthy older individuals. Neuromolecular Medicine, v. 14, n. 4, p. 281-284, 2012Tradução . . Disponível em: https://doi.org/10.1007/s12017-012-8186-x. Acesso em: 23 jul. 2024.
APA
Zatz, M., Pavanello, R. de C. M., Lourenço, N. C. V., Cerqueira, A. M. P. de, Lazar, M., & Vainzof, M. (2012). Assessing pathogenicity for novel mutation/sequence variants: healthy older individuals. Neuromolecular Medicine, 14( 4), 281-284. doi:10.1007/s12017-012-8186-x
NLM
Zatz M, Pavanello R de CM, Lourenço NCV, Cerqueira AMP de, Lazar M, Vainzof M. Assessing pathogenicity for novel mutation/sequence variants: healthy older individuals [Internet]. Neuromolecular Medicine. 2012 ; 14( 4): 281-284.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1007/s12017-012-8186-x
Vancouver
Zatz M, Pavanello R de CM, Lourenço NCV, Cerqueira AMP de, Lazar M, Vainzof M. Assessing pathogenicity for novel mutation/sequence variants: healthy older individuals [Internet]. Neuromolecular Medicine. 2012 ; 14( 4): 281-284.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1007/s12017-012-8186-x
Artigo de periodico
Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients (2011)
Mitne Neto, Miguel; Costa, Marcela Machado; Marchetto, Maria C. N; Bengtson, Mário Henrique; Joazeiro, Claudio A; Tsuda, Hiroshi; Bellen, Hugo J.; Silva, Helga A. C.; Oliveira, Acary Souza Bulle; Lazar, Monize; Muotri, Alysson Renato; Zatz, Mayana
Fonte: Human Molecular Genetics. Unidade: IB
Assuntos: DOENÇAS NEUROMUSCULARES, CÉLULAS-TRONCO
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MITNE NETO, Miguel et al. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients. Human Molecular Genetics, v. 20, n. 18, p. 3642-3652, 2011Tradução . . Disponível em: https://doi.org/10.1093/hmg/ddr284. Acesso em: 23 jul. 2024.
APA
Mitne Neto, M., Costa, M. M., Marchetto, M. C. N., Bengtson, M. H., Joazeiro, C. A., Tsuda, H., et al. (2011). Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients. Human Molecular Genetics, 20( 18), 3642-3652. doi:10.1093/hmg/ddr284
NLM
Mitne Neto M, Costa MM, Marchetto MCN, Bengtson MH, Joazeiro CA, Tsuda H, Bellen HJ, Silva HAC, Oliveira ASB, Lazar M, Muotri AR, Zatz M. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients [Internet]. Human Molecular Genetics. 2011 ; 20( 18): 3642-3652.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1093/hmg/ddr284
Vancouver
Mitne Neto M, Costa MM, Marchetto MCN, Bengtson MH, Joazeiro CA, Tsuda H, Bellen HJ, Silva HAC, Oliveira ASB, Lazar M, Muotri AR, Zatz M. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients [Internet]. Human Molecular Genetics. 2011 ; 20( 18): 3642-3652.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1093/hmg/ddr284
Artigo de periodico
Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article (2010)
Wajchenberg, Marcelo; Lazar, Monize; Cavaçana, Natale; Martins, Delio Eulalio; Licinio, Luciana; Puertas, Eduardo Barros; Landim, Elcio; Zatz, Mayana ; Ishida, Akira
Fonte: Scoliosis. Unidade: IB
Assuntos: ESCOLIOSE, GENÉTICA
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ABNT
WAJCHENBERG, Marcelo et al. Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article. Scoliosis, v. 5, p. art.7, 2010Tradução . . Disponível em: https://doi.org/10.1186/1748-7161-5-7. Acesso em: 23 jul. 2024.
APA
Wajchenberg, M., Lazar, M., Cavaçana, N., Martins, D. E., Licinio, L., Puertas, E. B., et al. (2010). Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article. Scoliosis, 5, art.7. doi:10.1186/1748-7161-5-7
NLM
Wajchenberg M, Lazar M, Cavaçana N, Martins DE, Licinio L, Puertas EB, Landim E, Zatz M, Ishida A. Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article [Internet]. Scoliosis. 2010 ; 5 art.7.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1186/1748-7161-5-7
Vancouver
Wajchenberg M, Lazar M, Cavaçana N, Martins DE, Licinio L, Puertas EB, Landim E, Zatz M, Ishida A. Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article [Internet]. Scoliosis. 2010 ; 5 art.7.[citado 2024 jul. 23 ] Available from: https://doi.org/10.1186/1748-7161-5-7

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