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Artigo de periodico
Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing (2021)
Villela, Darine; Barros, Juliana Sobral de; Costa, Silvia Souza da; Aguiar, Talita F. M; Campagnari, Francine; Vianna-Morgante, Angela M ; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: Annals of human genetics. Unidade: IB
Subjects: GENOMAS, ANORMALIDADES CROMOSSÔMICAS, SEQUÊNCIA DO DNA
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ABNT
VILLELA, Darine et al. Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing. Annals of human genetics, v. 85, n. Ja 2021, p. 18-26, 2021Tradução . . Disponível em: https://doi.org/10.1111/ahg.12402. Acesso em: 13 nov. 2024.
APA
Villela, D., Barros, J. S. de, Costa, S. S. da, Aguiar, T. F. M., Campagnari, F., Vianna-Morgante, A. M., et al. (2021). Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing. Annals of human genetics, 85( Ja 2021), 18-26. doi:10.1111/ahg.12402
NLM
Villela D, Barros JS de, Costa SS da, Aguiar TFM, Campagnari F, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing [Internet]. Annals of human genetics. 2021 ; 85( Ja 2021): 18-26.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1111/ahg.12402
Vancouver
Villela D, Barros JS de, Costa SS da, Aguiar TFM, Campagnari F, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Detection of mosaicism for segmental and whole chromosome imbalances by targeted sequencing [Internet]. Annals of human genetics. 2021 ; 85( Ja 2021): 18-26.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1111/ahg.12402
Artigo de periodico
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases (2018)
Carneiro, Thaise NR; Krepischi, Ana Cristina Victorino ; Costa, Sílvia S; Silva, Israel Tojal da; Vianna-Morgante, Angela M ; Valieris, Renan; Ezquina, Suzana AM; Bertola, Débora R; Otto, Paulo A ; Rosenberg, Carla
Source: The Application of Clinical Genetics. Unidade: IB
Subjects: GENOMAS, SEQUENCIAMENTO GENÉTICO, DOENÇAS GENÉTICAS, DEFICIÊNCIA MENTAL, EXONS, DIAGNÓSTICO
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ABNT
CARNEIRO, Thaise NR et al. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. The Application of Clinical Genetics, v. 11, p. 93-98, 2018Tradução . . Disponível em: https://doi.org/10.2147/TACG.S165799. Acesso em: 13 nov. 2024.
APA
Carneiro, T. N. R., Krepischi, A. C. V., Costa, S. S., Silva, I. T. da, Vianna-Morgante, A. M., Valieris, R., et al. (2018). Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. The Application of Clinical Genetics, 11, 93-98. doi:10.2147/TACG.S165799
NLM
Carneiro TNR, Krepischi ACV, Costa SS, Silva IT da, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases [Internet]. The Application of Clinical Genetics. 2018 ; 11 93-98.[citado 2024 nov. 13 ] Available from: https://doi.org/10.2147/TACG.S165799
Vancouver
Carneiro TNR, Krepischi ACV, Costa SS, Silva IT da, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases [Internet]. The Application of Clinical Genetics. 2018 ; 11 93-98.[citado 2024 nov. 13 ] Available from: https://doi.org/10.2147/TACG.S165799
Artigo de periodico
Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review (2017)
Bonaldi, Adriano; Kashiwabara, André; Araújo, Érica S. de; Pereira, Lygia da Veiga ; Paschoal, Alexandre R; Andozia, Mayra B; Villela, Darine; Rivas, Maria P; Suemoto, Claudia K; Pasqualucci, Carlos A; Grinberg, Lea T; Brentani, Helena; Maria-Engler, Silvya Stuchi ; Carraro, Dirce M; Vianna-Morgante, Angela M ; Rosenberg, Carla ; Vasques, Luciana R; Krepischi, Ana Cristina Victorino
Source: Epigenomes. Unidades: IB, FM, FCF
Subjects: METILAÇÃO DE DNA, GENOMAS, EXPRESSÃO GÊNICA, GENÉTICA MÉDICA, EPIGÊNESE GENÉTICA, EMBRIÃO
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ABNT
BONALDI, Adriano et al. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review. Epigenomes, v. 1, n. 2, p. 1-5, 2017Tradução . . Disponível em: https://doi.org/10.3390/epigenomes1020013. Acesso em: 13 nov. 2024.
APA
Bonaldi, A., Kashiwabara, A., Araújo, É. S. de, Pereira, L. da V., Paschoal, A. R., Andozia, M. B., et al. (2017). Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review. Epigenomes, 1( 2), 1-5. doi:10.3390/epigenomes1020013
NLM
Bonaldi A, Kashiwabara A, Araújo ÉS de, Pereira L da V, Paschoal AR, Andozia MB, Villela D, Rivas MP, Suemoto CK, Pasqualucci CA, Grinberg LT, Brentani H, Maria-Engler SS, Carraro DM, Vianna-Morgante AM, Rosenberg C, Vasques LR, Krepischi ACV. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review [Internet]. Epigenomes. 2017 ; 1( 2): 1-5.[citado 2024 nov. 13 ] Available from: https://doi.org/10.3390/epigenomes1020013
Vancouver
Bonaldi A, Kashiwabara A, Araújo ÉS de, Pereira L da V, Paschoal AR, Andozia MB, Villela D, Rivas MP, Suemoto CK, Pasqualucci CA, Grinberg LT, Brentani H, Maria-Engler SS, Carraro DM, Vianna-Morgante AM, Rosenberg C, Vasques LR, Krepischi ACV. Mining Novel Candidate Imprinted Genes Using Genome-Wide Methylation Screening and Literature Review [Internet]. Epigenomes. 2017 ; 1( 2): 1-5.[citado 2024 nov. 13 ] Available from: https://doi.org/10.3390/epigenomes1020013
Artigo de periodico
Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting (2017)
Villela, Darine; Costa, Silvia Souza; Vianna-Morgante, Angela M ; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: CITOGENÉTICA MOLECULAR, SEQUÊNCIA DO DNA, GENOMAS, ANORMALIDADES CROMOSSÔMICAS, NUCLEOTÍDEOS
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ABNT
VILLELA, Darine et al. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting. European Journal of Medical Genetics, v. 60, n. 12, p. 667-674, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2017.08.020. Acesso em: 13 nov. 2024.
APA
Villela, D., Costa, S. S., Vianna-Morgante, A. M., Krepischi, A. C. V., & Rosenberg, C. (2017). Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting. European Journal of Medical Genetics, 60( 12), 667-674. doi:10.1016/j.ejmg.2017.08.020
NLM
Villela D, Costa SS, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting [Internet]. European Journal of Medical Genetics. 2017 ; 60( 12): 667-674.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1016/j.ejmg.2017.08.020
Vancouver
Villela D, Costa SS, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting [Internet]. European Journal of Medical Genetics. 2017 ; 60( 12): 667-674.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1016/j.ejmg.2017.08.020
Artigo de periodico
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome (2008)
Koolen, D. A.; Sharp, A. J.; Hurst, J. A.; Firth, Helen V.; Knight, S. J. L.; Goldenberg, A.; Saugier-Veber, P.; Pfundt, R.; Vissers, L. E. L. M.; Destrée, A.; Grisart, B.; Rooms, L.; Van der Aa, N.; Field, M.; Hackett, A.; Bell, K.; Nowaczyk, M. J. M.; Mancini, G. M. S.; Poddighe, P. J.; Schwartz, C. E.; Rossi, E.; De Gregori, M.; Antonacci-Fulton, L. L.; McLellan II, M. D.; Garrett, J. M.; Wiechert, M A; Miner, T. L.; Crosby, S.; Ciccone, R; Willatt, Lionel; Rauch, A.; Zenker, Martin; Aradhya, S.; Manning, M. A.; Strom, T. M.; Wagenstaller, J.; Krepischi, Ana Cristina Victorino ; Vianna-Morgante, Angela M ; Rosenberg, Carla ; Price, S. M.; Stewart, H; Shaw-Smith, Charles; Brunner, H. G.; Wilkie, A. O. M.; Veltman, J. A.; Zuffardi, O.; Eichler, E. E.; Vries, B. B. A.
Source: Journal of Medical Genetics. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, GENOMAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
KOOLEN, D. A. et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics, v. 45, n. 11, p. 710-720, 2008Tradução . . Disponível em: https://doi.org/10.1136/jmg.2008.058701. Acesso em: 13 nov. 2024.
APA
Koolen, D. A., Sharp, A. J., Hurst, J. A., Firth, H. V., Knight, S. J. L., Goldenberg, A., et al. (2008). Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. Journal of Medical Genetics, 45( 11), 710-720. doi:10.1136/jmg.2008.058701
NLM
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJL, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LELM, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJM, Mancini GMS, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan II MD, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi ACV, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AOM, Veltman JA, Zuffardi O, Eichler EE, Vries BBA. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome [Internet]. Journal of Medical Genetics. 2008 ; 45( 11): 710-720.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1136/jmg.2008.058701
Vancouver
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJL, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LELM, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJM, Mancini GMS, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan II MD, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi ACV, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AOM, Veltman JA, Zuffardi O, Eichler EE, Vries BBA. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome [Internet]. Journal of Medical Genetics. 2008 ; 45( 11): 710-720.[citado 2024 nov. 13 ] Available from: https://doi.org/10.1136/jmg.2008.058701

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