ReP USP - Resultado da busca

Artigo de periodico
Pathogenic TERT promoter variants in telomere diseases (2019)
Gutierrez-Rodrigues, Fernanda ; Donaires, Flávia Sacilotto ; Santos, André Luiz Pinto ; Vicente, Alana; Dillon, Laura W.; Clé, Diego Villa ; Santana, Bárbara Amélia Aparecida ; Pirooznia, Mehdi; Ibanez, Maria del Pilar F.; Townsley, Danielle M.; Kajigaya, Sachiko; Hourigan, Christopher S.; Cooper, James N.; Calado, Rodrigo Tocantins ; Young, Neal S.
Source: Genetics in Medicine. Unidade: FMRP
Subjects: MEDULA ÓSSEA, TELÔMERO, FIBROSE PULMONAR
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ABNT
GUTIERREZ-RODRIGUES, Fernanda et al. Pathogenic TERT promoter variants in telomere diseases. Genetics in Medicine, v. 21, n. 7, p. 1594-1602, 2019Tradução . . Disponível em: https://doi.org/10.1038/s41436-018-0385-x. Acesso em: 05 jul. 2024.
APA
Gutierrez-Rodrigues, F., Donaires, F. S., Santos, A. L. P., Vicente, A., Dillon, L. W., Clé, D. V., et al. (2019). Pathogenic TERT promoter variants in telomere diseases. Genetics in Medicine, 21( 7), 1594-1602. doi:10.1038/s41436-018-0385-x
NLM
Gutierrez-Rodrigues F, Donaires FS, Santos ALP, Vicente A, Dillon LW, Clé DV, Santana BAA, Pirooznia M, Ibanez M del PF, Townsley DM, Kajigaya S, Hourigan CS, Cooper JN, Calado RT, Young NS. Pathogenic TERT promoter variants in telomere diseases [Internet]. Genetics in Medicine. 2019 ; 21( 7): 1594-1602.[citado 2024 jul. 05 ] Available from: https://doi.org/10.1038/s41436-018-0385-x
Vancouver
Gutierrez-Rodrigues F, Donaires FS, Santos ALP, Vicente A, Dillon LW, Clé DV, Santana BAA, Pirooznia M, Ibanez M del PF, Townsley DM, Kajigaya S, Hourigan CS, Cooper JN, Calado RT, Young NS. Pathogenic TERT promoter variants in telomere diseases [Internet]. Genetics in Medicine. 2019 ; 21( 7): 1594-1602.[citado 2024 jul. 05 ] Available from: https://doi.org/10.1038/s41436-018-0385-x
Artigo de periodico
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation (2019)
Gutierrez-Rodrigues, Fernanda ; Masri, Nohad; Chouery, Eliane; Diamond, Carrie; Jalkh, Nadine; Vicente, Alana; Kajigaya, Sachiko; Abillama, Fayez; Bejjani, Noha; Serhal, Wassim; Calado, Rodrigo Tocantins ; Young, Neal S.; Farhat, Hussein; Coussa, Marie Louise
Source: Human Genetics. Unidade: FMRP
Subjects: HEMATOLOGIA, TELÔMERO, FENÓTIPOS, GENÉTICA
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ABNT
GUTIERREZ-RODRIGUES, Fernanda et al. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation. Human Genetics, v. 138, n. 11-12, p. 1323-1330, 2019Tradução . . Disponível em: https://doi.org/10.1007/s00439-019-02076-8. Acesso em: 05 jul. 2024.
APA
Gutierrez-Rodrigues, F., Masri, N., Chouery, E., Diamond, C., Jalkh, N., Vicente, A., et al. (2019). A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation. Human Genetics, 138( 11-12), 1323-1330. doi:10.1007/s00439-019-02076-8
NLM
Gutierrez-Rodrigues F, Masri N, Chouery E, Diamond C, Jalkh N, Vicente A, Kajigaya S, Abillama F, Bejjani N, Serhal W, Calado RT, Young NS, Farhat H, Coussa ML. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation [Internet]. Human Genetics. 2019 ; 138( 11-12): 1323-1330.[citado 2024 jul. 05 ] Available from: https://doi.org/10.1007/s00439-019-02076-8
Vancouver
Gutierrez-Rodrigues F, Masri N, Chouery E, Diamond C, Jalkh N, Vicente A, Kajigaya S, Abillama F, Bejjani N, Serhal W, Calado RT, Young NS, Farhat H, Coussa ML. A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation [Internet]. Human Genetics. 2019 ; 138( 11-12): 1323-1330.[citado 2024 jul. 05 ] Available from: https://doi.org/10.1007/s00439-019-02076-8
Artigo de periodico
Telomerase enzyme deficiency promotes metabolic dysfunction in murine hepatocytes upon dietary stress (2018)
Paiva, Raquel de Melo Alves; Kajigaya, Sachiko; Feng, Xingmin; Chen, Jichun; Desierto, Marie J.; Wong, Susan; Townsley, Danielle M.; Donaires, Flávia Sacilotto; Bertola, Adeline; Gao, Bin; Young, Neal S.; Calado, Rodrigo Tocantins
Source: Liver International. Unidade: FMRP
Subjects: FÍGADO GORDUROSO, METABOLISMO ENERGÉTICO, TELÔMERO, INIBIDORES DE ENZIMAS, ANIMAIS DE LABORATÓRIO
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PAIVA, Raquel de Melo Alves et al. Telomerase enzyme deficiency promotes metabolic dysfunction in murine hepatocytes upon dietary stress. Liver International, v. 38, n. 1, p. 144-154, 2018Tradução . . Disponível em: https://doi.org/10.1111/liv.13529. Acesso em: 05 jul. 2024.
APA
Paiva, R. de M. A., Kajigaya, S., Feng, X., Chen, J., Desierto, M. J., Wong, S., et al. (2018). Telomerase enzyme deficiency promotes metabolic dysfunction in murine hepatocytes upon dietary stress. Liver International, 38( 1), 144-154. doi:10.1111/liv.13529
NLM
Paiva R de MA, Kajigaya S, Feng X, Chen J, Desierto MJ, Wong S, Townsley DM, Donaires FS, Bertola A, Gao B, Young NS, Calado RT. Telomerase enzyme deficiency promotes metabolic dysfunction in murine hepatocytes upon dietary stress [Internet]. Liver International. 2018 ; 38( 1): 144-154.[citado 2024 jul. 05 ] Available from: https://doi.org/10.1111/liv.13529
Vancouver
Paiva R de MA, Kajigaya S, Feng X, Chen J, Desierto MJ, Wong S, Townsley DM, Donaires FS, Bertola A, Gao B, Young NS, Calado RT. Telomerase enzyme deficiency promotes metabolic dysfunction in murine hepatocytes upon dietary stress [Internet]. Liver International. 2018 ; 38( 1): 144-154.[citado 2024 jul. 05 ] Available from: https://doi.org/10.1111/liv.13529
Artigo de periodico
A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome (2014)
Ueda, Yasutaka; Calado, Rodrigo Tocantins; Norberg, Anna; Kajigaya, Sachiko; Ross, Göran; Hellstrom-Lindberg, Eva; Young, Neal S
Source: BMC Medical Genetics. Unidade: FMRP
Subjects: DOENÇAS HEMATOLÓGICAS (GENÉTICA), PROTEÍNAS NUCLEARES (METABOLISMO), NUCLEOTÍDEOS
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ABNT
UEDA, Yasutaka et al. A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome. BMC Medical Genetics, v. 15, 2014Tradução . . Disponível em: https://doi.org/10.1186/1471-2350-15-68. Acesso em: 05 jul. 2024.
APA
Ueda, Y., Calado, R. T., Norberg, A., Kajigaya, S., Ross, G., Hellstrom-Lindberg, E., & Young, N. S. (2014). A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome. BMC Medical Genetics, 15. doi:10.1186/1471-2350-15-68
NLM
Ueda Y, Calado RT, Norberg A, Kajigaya S, Ross G, Hellstrom-Lindberg E, Young NS. A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome [Internet]. BMC Medical Genetics. 2014 ; 15[citado 2024 jul. 05 ] Available from: https://doi.org/10.1186/1471-2350-15-68
Vancouver
Ueda Y, Calado RT, Norberg A, Kajigaya S, Ross G, Hellstrom-Lindberg E, Young NS. A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome [Internet]. BMC Medical Genetics. 2014 ; 15[citado 2024 jul. 05 ] Available from: https://doi.org/10.1186/1471-2350-15-68
Artigo de periodico-carta/editorial
Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia. [Carta] (2013)
Aalbers, Anna M.; Calado, Rodrigo Tocantins; Young, Neal S.; Zwaan, C. Michel; Kajigaya, Sachiko; Baruchel, André; Geleijns, Karin; Haas, Valerie de; Kaspers, Gertjan J. L.; Reinhardt, Dirk; Trka, Jan; Kuijpers, Taco W.; Pieters, Rob; Velden, Vincent H. J. van der; Heuvel-Eibrink, Marry M. van den
Source: British Journal of Haematology. Unidade: FMRP
Subjects: LEUCEMIA MIELOIDE AGUDA, MUTAÇÃO GENÉTICA, CRIANÇAS
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ABNT
AALBERS, Anna M. et al. Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia. [Carta]. British Journal of Haematology. West Sussex: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. Disponível em: https://doi.org/10.1111/bjh.12134. Acesso em: 05 jul. 2024. , 2013
APA
Aalbers, A. M., Calado, R. T., Young, N. S., Zwaan, C. M., Kajigaya, S., Baruchel, A., et al. (2013). Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia. [Carta]. British Journal of Haematology. West Sussex: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. doi:10.1111/bjh.12134
NLM
Aalbers AM, Calado RT, Young NS, Zwaan CM, Kajigaya S, Baruchel A, Geleijns K, Haas V de, Kaspers GJL, Reinhardt D, Trka J, Kuijpers TW, Pieters R, Velden VHJ van der, Heuvel-Eibrink MM van den. Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia. [Carta] [Internet]. British Journal of Haematology. 2013 ; 160( 4): 559-561.[citado 2024 jul. 05 ] Available from: https://doi.org/10.1111/bjh.12134
Vancouver
Aalbers AM, Calado RT, Young NS, Zwaan CM, Kajigaya S, Baruchel A, Geleijns K, Haas V de, Kaspers GJL, Reinhardt D, Trka J, Kuijpers TW, Pieters R, Velden VHJ van der, Heuvel-Eibrink MM van den. Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia. [Carta] [Internet]. British Journal of Haematology. 2013 ; 160( 4): 559-561.[citado 2024 jul. 05 ] Available from: https://doi.org/10.1111/bjh.12134
Trabalho de evento-resumo
Telomere shortening in hepatocyte proliferation and predisposition to alcohol-induced steatosis (2013)
Alves-Paiva, Raquel M.; Bertola, Adeline; Chen, Jichun; Townsley, Danielle; Dumitriu, Bogdan; Kajigaya, Sachiko; Young, Neal S.; Gao, Bin; Calado, Rodrigo Tocantins
Source: Abstracts. Conference titles: Meeting on Telomeres and Telomerase. Unidade: FMRP
Subjects: HEMATOLOGIA, ENZIMOLOGIA
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ABNT
ALVES-PAIVA, Raquel M. et al. Telomere shortening in hepatocyte proliferation and predisposition to alcohol-induced steatosis. 2013, Anais.. Cold Spring Harbor: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 2013. . Acesso em: 05 jul. 2024.
APA
Alves-Paiva, R. M., Bertola, A., Chen, J., Townsley, D., Dumitriu, B., Kajigaya, S., et al. (2013). Telomere shortening in hepatocyte proliferation and predisposition to alcohol-induced steatosis. In Abstracts. Cold Spring Harbor: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo.
NLM
Alves-Paiva RM, Bertola A, Chen J, Townsley D, Dumitriu B, Kajigaya S, Young NS, Gao B, Calado RT. Telomere shortening in hepatocyte proliferation and predisposition to alcohol-induced steatosis. Abstracts. 2013 ;[citado 2024 jul. 05 ]
Vancouver
Alves-Paiva RM, Bertola A, Chen J, Townsley D, Dumitriu B, Kajigaya S, Young NS, Gao B, Calado RT. Telomere shortening in hepatocyte proliferation and predisposition to alcohol-induced steatosis. Abstracts. 2013 ;[citado 2024 jul. 05 ]
Trabalho de evento-resumo periodico
Telomere length and telomerase complex mutations in pediatric acute myeloid leukemia (2012)
Aalbers, Anna M.; Calado, Rodrigo Tocantins; Young, Neal S.; Zwaan, Christian M.; Wu, Colin O.; Kajigaya, Sachiko; Coenen, Eva A.; Baruchel, André; Geleijns, Karin; Haas, Valerie de; Kaspers, Gertjan J. L.; Kuijpers, Taco W.; Reinhardt, Dirk; Trka, Jan; Zimmermann, Martin; Pieters, Rob; van der Velden, Vincent H. J.; van den Heuvel-Eibrink, Marry M.
Source: Blood. Conference titles: Annual Meeting of the American Society of Hematology (ASH). Unidade: FMRP
Subjects: LEUCEMIA, CRIANÇAS, MUTAÇÃO GENÉTICA, CÉLULAS SANGUÍNEAS
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ABNT
AALBERS, Anna M. et al. Telomere length and telomerase complex mutations in pediatric acute myeloid leukemia. Blood. Washington: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo. . Acesso em: 05 jul. 2024. , 2012
APA
Aalbers, A. M., Calado, R. T., Young, N. S., Zwaan, C. M., Wu, C. O., Kajigaya, S., et al. (2012). Telomere length and telomerase complex mutations in pediatric acute myeloid leukemia. Blood. Washington: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo.
NLM
Aalbers AM, Calado RT, Young NS, Zwaan CM, Wu CO, Kajigaya S, Coenen EA, Baruchel A, Geleijns K, Haas V de, Kaspers GJL, Kuijpers TW, Reinhardt D, Trka J, Zimmermann M, Pieters R, van der Velden VHJ, van den Heuvel-Eibrink MM. Telomere length and telomerase complex mutations in pediatric acute myeloid leukemia. Blood. 2012 ; 120( 21):[citado 2024 jul. 05 ]
Vancouver
Aalbers AM, Calado RT, Young NS, Zwaan CM, Wu CO, Kajigaya S, Coenen EA, Baruchel A, Geleijns K, Haas V de, Kaspers GJL, Kuijpers TW, Reinhardt D, Trka J, Zimmermann M, Pieters R, van der Velden VHJ, van den Heuvel-Eibrink MM. Telomere length and telomerase complex mutations in pediatric acute myeloid leukemia. Blood. 2012 ; 120( 21):[citado 2024 jul. 05 ]
Trabalho de evento-resumo
A mutation in the CCAAT box of the TERC promoter region causes telomere disease (2011)
Aalbers, Anna M.; Kajigaya, Sachiko; Heuvel, Marry M. van den; Velden, Vincent van der; Zwaan, Michel; Pieters, Rob; Calado, Rodrigo T.; Young, Neal S.
Source: Abstracts. Conference titles: Meeting of the Telomeres & Telomerase. Unidade: FMRP
Subjects: CROMOSSOMOS, MUTAÇÃO GENÉTICA
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ABNT
AALBERS, Anna M. et al. A mutation in the CCAAT box of the TERC promoter region causes telomere disease. 2011, Anais.. New York: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, 2011. . Acesso em: 05 jul. 2024.
APA
Aalbers, A. M., Kajigaya, S., Heuvel, M. M. van den, Velden, V. van der, Zwaan, M., Pieters, R., et al. (2011). A mutation in the CCAAT box of the TERC promoter region causes telomere disease. In Abstracts. New York: Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo.
NLM
Aalbers AM, Kajigaya S, Heuvel MM van den, Velden V van der, Zwaan M, Pieters R, Calado RT, Young NS. A mutation in the CCAAT box of the TERC promoter region causes telomere disease. Abstracts. 2011 ;[citado 2024 jul. 05 ]
Vancouver
Aalbers AM, Kajigaya S, Heuvel MM van den, Velden V van der, Zwaan M, Pieters R, Calado RT, Young NS. A mutation in the CCAAT box of the TERC promoter region causes telomere disease. Abstracts. 2011 ;[citado 2024 jul. 05 ]

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