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Artigo de periodico
Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective (2023)
Félix, Têmis Maria ; Souza, Carolina Fischinger Moura de ; Oliveira, João Bosco; Rico-Restrepo, Mariana; Zanoteli, Edmar ; Zatz, Mayana ; Giugliani, Roberto
Source: International Journal for Equity in Health. Unidades: IB, FM
Subjects: GENOMAS, SEQUENCIAMENTO GENÉTICO, DOENÇAS RARAS
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ABNT
FÉLIX, Têmis Maria et al. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective. International Journal for Equity in Health, v. 22, n. 11, 2023Tradução . . Disponível em: https://doi.org/10.1186/s12939-022-01809-y. Acesso em: 04 nov. 2024.
APA
Félix, T. M., Souza, C. F. M. de, Oliveira, J. B., Rico-Restrepo, M., Zanoteli, E., Zatz, M., & Giugliani, R. (2023). Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective. International Journal for Equity in Health, 22( 11). doi:10.1186/s12939-022-01809-y
NLM
Félix TM, Souza CFM de, Oliveira JB, Rico-Restrepo M, Zanoteli E, Zatz M, Giugliani R. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective [Internet]. International Journal for Equity in Health. 2023 ;22( 11):[citado 2024 nov. 04 ] Available from: https://doi.org/10.1186/s12939-022-01809-y
Vancouver
Félix TM, Souza CFM de, Oliveira JB, Rico-Restrepo M, Zanoteli E, Zatz M, Giugliani R. Challenges and recommendations to increasing the use of exome sequencing and whole genome sequencing for diagnosing rare diseases in Brazil: an expert perspective [Internet]. International Journal for Equity in Health. 2023 ;22( 11):[citado 2024 nov. 04 ] Available from: https://doi.org/10.1186/s12939-022-01809-y
Artigo de periodico
Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay (2021)
Melo, Uirá Souto ; Bonner, Devon ; Lloyd, Kevin C. Kent ; Moshiri, Ala ; Willis, Brandon ; Lanoue, Louise ; Bower, Lynette; Leonard, Brian C. ; Martins, Davi Jardim ; Gomes, Fernando ; Leite, Felipe de Souza ; Oliveira, Danyllo ; Kitajima, João Paulo; Monteiro, Fabiola P. ; Zatz, Mayana ; Menck, Carlos Frederico Martins ; Wheeler, Matthew T. ; Bernstein, Jonathan A. ; Dumas, Kevin; Spiteri, Elizabeth ; Di Donato, Nataliya ; Jahn, Arne ; Hashem, Mais; Alsaif, Hessa S. ; Chedrawi, Aziza; Alkuraya, Fowzan S. ; Kok, Fernando ; Byers, Heather M.
Source: Genetics in Medicine. Unidades: IB, ICB, FM
Subjects: MICROBIOLOGIA, EXONS, GENOMAS, PESSOAS COM DEFICIÊNCIA INTELECTUAL, DOENÇAS DO DESENVOLVIMENTO ÓSSEO, VARIAÇÃO GENÉTICA
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ABNT
MELO, Uirá Souto et al. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Genetics in Medicine, v. 23, n. 4, p. 6611-668, 2021Tradução . . Disponível em: https://doi.org/10.1038/s41436-020-01047-z. Acesso em: 04 nov. 2024.
APA
Melo, U. S., Bonner, D., Lloyd, K. C. K., Moshiri, A., Willis, B., Lanoue, L., et al. (2021). Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay. Genetics in Medicine, 23( 4), 6611-668. doi:10.1038/s41436-020-01047-z
NLM
Melo US, Bonner D, Lloyd KCK, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, Leite F de S, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay [Internet]. Genetics in Medicine. 2021 ; 23( 4): 6611-668.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1038/s41436-020-01047-z
Vancouver
Melo US, Bonner D, Lloyd KCK, Moshiri A, Willis B, Lanoue L, Bower L, Leonard BC, Martins DJ, Gomes F, Leite F de S, Oliveira D, Kitajima JP, Monteiro FP, Zatz M, Menck CFM, Wheeler MT, Bernstein JA, Dumas K, Spiteri E, Di Donato N, Jahn A, Hashem M, Alsaif HS, Chedrawi A, Alkuraya FS, Kok F, Byers HM. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay [Internet]. Genetics in Medicine. 2021 ; 23( 4): 6611-668.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1038/s41436-020-01047-z
Artigo de periodico
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity (2018)
D’Angelo, Carla Sustek; Varela, Monica Castro; Castro, Cláudia Irene Emílio de; Otto, Paulo A ; Perez, Ana Beatriz Alvarez; Lourenço, Charles Marques; Kim, Chong Ae; Bertola, Débora Romeo; Kok, Fernando; Garcia-Alonso, Luis; Koiffmann, Celia Priszkulnik
Source: Molecular Cytogenetics. Unidades: IB, FM
Subjects: OBESIDADE, FENÓTIPOS, DOENÇAS GENÉTICAS, ANORMALIDADES CROMOSSÔMICAS, RETARDO MENTAL, GENÉTICA MÉDICA, GENOMAS
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ABNT
D’ANGELO, Carla Sustek et al. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. Molecular Cytogenetics, v. 11, n. 14, p. 1-18, 2018Tradução . . Disponível em: https://doi.org/10.1186/s13039-018-0363-7. Acesso em: 04 nov. 2024.
APA
D’Angelo, C. S., Varela, M. C., Castro, C. I. E. de, Otto, P. A., Perez, A. B. A., Lourenço, C. M., et al. (2018). Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. Molecular Cytogenetics, 11( 14), 1-18. doi:10.1186/s13039-018-0363-7
NLM
D’Angelo CS, Varela MC, Castro CIE de, Otto PA, Perez ABA, Lourenço CM, Kim CA, Bertola DR, Kok F, Garcia-Alonso L, Koiffmann CP. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity [Internet]. Molecular Cytogenetics. 2018 ; 11( 14): 1-18.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1186/s13039-018-0363-7
Vancouver
D’Angelo CS, Varela MC, Castro CIE de, Otto PA, Perez ABA, Lourenço CM, Kim CA, Bertola DR, Kok F, Garcia-Alonso L, Koiffmann CP. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity [Internet]. Molecular Cytogenetics. 2018 ; 11( 14): 1-18.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1186/s13039-018-0363-7
Artigo de periodico
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy (2005)
Lampe, A. K.; Dunn, D. M.; Niederhausern, A. C. van; Hamil, C.; Aoyagi, A.; Laval, S. H.; Marie, S. K.; Chu, M.-L.; Swoboda, K.; Muntoni, F.; Bonnemann, C. G.; Flanigan, K. M.; Bushby, K. M. D.; Weiss, R. B.
Source: Journal of Medical Genetics. Unidade: FM
Subjects: GENOMAS, COLÁGENO, ANÁLISE SEQUENCIAL, DISTROFIA MUSCULAR (CONGÊNITO)
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ABNT
LAMPE, A. K. et al. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. Journal of Medical Genetics, v. 42, p. 108-120, 2005Tradução . . Disponível em: https://doi.org/10.1136/jmg.2004.023754. Acesso em: 04 nov. 2024.
APA
Lampe, A. K., Dunn, D. M., Niederhausern, A. C. van, Hamil, C., Aoyagi, A., Laval, S. H., et al. (2005). Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy. Journal of Medical Genetics, 42, 108-120. doi:10.1136/jmg.2004.023754
NLM
Lampe AK, Dunn DM, Niederhausern AC van, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu M-L, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KMD, Weiss RB. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy [Internet]. Journal of Medical Genetics. 2005 ; 42 108-120.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1136/jmg.2004.023754
Vancouver
Lampe AK, Dunn DM, Niederhausern AC van, Hamil C, Aoyagi A, Laval SH, Marie SK, Chu M-L, Swoboda K, Muntoni F, Bonnemann CG, Flanigan KM, Bushby KMD, Weiss RB. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy [Internet]. Journal of Medical Genetics. 2005 ; 42 108-120.[citado 2024 nov. 04 ] Available from: https://doi.org/10.1136/jmg.2004.023754
Trabalho de evento-resumo
A preliminary transcriptome map of astrocytomas (2005)
Fujita, André ; Sato, João Ricardo; Festa, Fernanda; Winnischofer, Sheila Maria Brochado; Oba-Shinjo, Sueli Mieko; Marie, Suely Kazue Nagahashi; Ferreira, Carlos Eduardo ; Sogayar, Mari Cleide
Source: Programas e Resumos. Conference titles: Reunião Anual da Sociedade Brasileira de Bioquímica e Biologia Molecular. Unidades: FM, IME, IQ, BIOINFORMÁTICA
Subjects: BIOQUÍMICA, GENOMAS
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ABNT
FUJITA, André et al. A preliminary transcriptome map of astrocytomas. 2005, Anais.. São Paulo: SBBq, 2005. . Acesso em: 04 nov. 2024.
APA
Fujita, A., Sato, J. R., Festa, F., Winnischofer, S. M. B., Oba-Shinjo, S. M., Marie, S. K. N., et al. (2005). A preliminary transcriptome map of astrocytomas. In Programas e Resumos. São Paulo: SBBq.
NLM
Fujita A, Sato JR, Festa F, Winnischofer SMB, Oba-Shinjo SM, Marie SKN, Ferreira CE, Sogayar MC. A preliminary transcriptome map of astrocytomas. Programas e Resumos. 2005 ;[citado 2024 nov. 04 ]
Vancouver
Fujita A, Sato JR, Festa F, Winnischofer SMB, Oba-Shinjo SM, Marie SKN, Ferreira CE, Sogayar MC. A preliminary transcriptome map of astrocytomas. Programas e Resumos. 2005 ;[citado 2024 nov. 04 ]
Artigo de periodico
Identification and complete sequencing of novel human transcripts through the use of mouse orthologs and testis cDNA sequences (2004)
Ferreira, Elisa Napolitano e; Pires, Lilian Campos Pires; Parmigiani, Raphael B; Bettoni, Fabiana; Puga, Renato D; Pinheiro, Daniel G; Andrade, Luís Eduardo Coelho; Cruz, Luciana Oliveira; Degaki, Theri Leica; Faria Júnior, Milton; Festa, Fernanda; Giannella Neto, Daniel; Giorgi, Ricardo Rodrigues; Goldman, Gustavo Henrique; Granja, Fabiana; Gruber, Arthur ; Hackel, Christine; Henrique-Silva, Flávio; Malnic, Bettina ; Manzini, Carina V. B; Marie, Suely Kazue Nagahashi; Martinez-Rossi, Nilce Maria; Oba-Shinjo, Sueli Mieko; Pardini, Maria Ines de Moura Campos; Rahal, Paula; Rainho, Cláudia Aparecida; Rogatto, Silvia Regina; Romano, Camila Malta; Rodrigues, Vanderlei; Sales, Magaly M; Savoldi, Marcela; Silva, Ismael Dale Cotrim Guerreiro da; Silva, Neusa Pereira da; Souza, Sandro José de; Tajara, Eloiza Helena; Silva Júnior, Wilson Araújo da; Simpson, Andrew John George; Sogayar, Mari Cleide ; Camargo, Anamaria Aranha; Carraro, Dirce Maria
Source: Genetics and Molecular Research. Unidades: FCFRP, FMVZ, IQ, FM, FMRP
Subjects: GENOMAS (HUMANO), RATOS, TRANSCRIÇÃO GÊNICA, GENOMAS
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ABNT
FERREIRA, Elisa Napolitano e et al. Identification and complete sequencing of novel human transcripts through the use of mouse orthologs and testis cDNA sequences. Genetics and Molecular Research, v. 3, n. 4, p. 493-511, 2004Tradução . . Disponível em: http://geneticsmr.com//year2004/vol3-4/pdf/icob0006.pdf. Acesso em: 04 nov. 2024.
APA
Ferreira, E. N. e, Pires, L. C. P., Parmigiani, R. B., Bettoni, F., Puga, R. D., Pinheiro, D. G., et al. (2004). Identification and complete sequencing of novel human transcripts through the use of mouse orthologs and testis cDNA sequences. Genetics and Molecular Research, 3( 4), 493-511. Recuperado de http://geneticsmr.com//year2004/vol3-4/pdf/icob0006.pdf
NLM
Ferreira EN e, Pires LCP, Parmigiani RB, Bettoni F, Puga RD, Pinheiro DG, Andrade LEC, Cruz LO, Degaki TL, Faria Júnior M, Festa F, Giannella Neto D, Giorgi RR, Goldman GH, Granja F, Gruber A, Hackel C, Henrique-Silva F, Malnic B, Manzini CVB, Marie SKN, Martinez-Rossi NM, Oba-Shinjo SM, Pardini MI de MC, Rahal P, Rainho CA, Rogatto SR, Romano CM, Rodrigues V, Sales MM, Savoldi M, Silva IDCG da, Silva NP da, Souza SJ de, Tajara EH, Silva Júnior WA da, Simpson AJG, Sogayar MC, Camargo AA, Carraro DM. Identification and complete sequencing of novel human transcripts through the use of mouse orthologs and testis cDNA sequences [Internet]. Genetics and Molecular Research. 2004 ; 3( 4): 493-511.[citado 2024 nov. 04 ] Available from: http://geneticsmr.com//year2004/vol3-4/pdf/icob0006.pdf
Vancouver
Ferreira EN e, Pires LCP, Parmigiani RB, Bettoni F, Puga RD, Pinheiro DG, Andrade LEC, Cruz LO, Degaki TL, Faria Júnior M, Festa F, Giannella Neto D, Giorgi RR, Goldman GH, Granja F, Gruber A, Hackel C, Henrique-Silva F, Malnic B, Manzini CVB, Marie SKN, Martinez-Rossi NM, Oba-Shinjo SM, Pardini MI de MC, Rahal P, Rainho CA, Rogatto SR, Romano CM, Rodrigues V, Sales MM, Savoldi M, Silva IDCG da, Silva NP da, Souza SJ de, Tajara EH, Silva Júnior WA da, Simpson AJG, Sogayar MC, Camargo AA, Carraro DM. Identification and complete sequencing of novel human transcripts through the use of mouse orthologs and testis cDNA sequences [Internet]. Genetics and Molecular Research. 2004 ; 3( 4): 493-511.[citado 2024 nov. 04 ] Available from: http://geneticsmr.com//year2004/vol3-4/pdf/icob0006.pdf

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