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Artigo de periodico
Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs (2021)
Tavares, Vanessa Luiza Romanelli; Monfardini, Frederico; Lourenço, Naila Cristina Vilaça; Rocha, Katia Maria da; Weinmann, Karina; Pavanello, Rita; Zatz, Mayana
Source: International Journal of Neonatal Screening. Unidades: IB, BIOINFORMÁTICA
Subjects: DOENÇAS NEUROMUSCULARES, ATROFIA MUSCULAR, GENÉTICA MÉDICA
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ABNT
TAVARES, Vanessa Luiza Romanelli et al. Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs. International Journal of Neonatal Screening, v. 7, n. 3, 2021Tradução . . Disponível em: https://doi.org/10.3390/ijns7030053. Acesso em: 10 maio 2024.
APA
Tavares, V. L. R., Monfardini, F., Lourenço, N. C. V., Rocha, K. M. da, Weinmann, K., Pavanello, R., & Zatz, M. (2021). Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs. International Journal of Neonatal Screening, 7( 3). doi:10.3390/ijns7030053
NLM
Tavares VLR, Monfardini F, Lourenço NCV, Rocha KM da, Weinmann K, Pavanello R, Zatz M. Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs [Internet]. International Journal of Neonatal Screening. 2021 ; 7( 3):[citado 2024 maio 10 ] Available from: https://doi.org/10.3390/ijns7030053
Vancouver
Tavares VLR, Monfardini F, Lourenço NCV, Rocha KM da, Weinmann K, Pavanello R, Zatz M. Newborn screening for 5q Spinal Muscular Atrophy: Comparisons between real-time PCR methodologies and cost estimations for future implementation programs [Internet]. International Journal of Neonatal Screening. 2021 ; 7( 3):[citado 2024 maio 10 ] Available from: https://doi.org/10.3390/ijns7030053
Artigo de periodico
A novel saliva RT-LAMP workflow for rapid identification of COVID-19 cases and restraining viral spread (2021)
Kobayashi, Gerson Shigeru ; Brito, Luciano Abreu; Moreira, Danielle de Paula; Suzuki, Angela May; Hsia, Gabriella Shih Ping ; Pimentel, Lylyan Fragoso; Paiva, Ana Paula Barreto de; Dias, Carolina Regoli; Lourenço, Naila Cristina Vilaça ; Oliveira, Beatriz Araujo; Manuli, Erika Regina ; Corral, Marcelo Andreetta; Cavaçana, Natale; Mitne-Neto, Miguel; Sales, Maria Mirtes; Dell’Aquila, Luiz Phellipe; Razuk Filho, Alvaro; Parrillo, Eduardo Fagundes; Mendes-Correa, Maria Cassia ; Sabino, Ester Cerdeira ; Costa, Sílvia Figueiredo ; Leal, Fabio Eudes; Sgro, Germán Gustavo ; Farah, Chuck Shaker ; Zatz, Mayana ; Passos-Bueno, Maria Rita
Source: Diagnostics. Unidades: IB, FM, FCFRP, IQ
Subjects: COVID-19, CORONAVIRUS, SALIVA, DIAGNÓSTICO, PROTOCOLOS CLÍNICOS, TRANSMISSÃO DE DOENÇAS
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ABNT
KOBAYASHI, Gerson Shigeru et al. A novel saliva RT-LAMP workflow for rapid identification of COVID-19 cases and restraining viral spread. Diagnostics, v. 11, n. 8, p. 1-19, 2021Tradução . . Disponível em: https://doi.org/10.3390/diagnostics11081400. Acesso em: 10 maio 2024.
APA
Kobayashi, G. S., Brito, L. A., Moreira, D. de P., Suzuki, A. M., Hsia, G. S. P., Pimentel, L. F., et al. (2021). A novel saliva RT-LAMP workflow for rapid identification of COVID-19 cases and restraining viral spread. Diagnostics, 11( 8), 1-19. doi:10.3390/diagnostics11081400
NLM
Kobayashi GS, Brito LA, Moreira D de P, Suzuki AM, Hsia GSP, Pimentel LF, Paiva APB de, Dias CR, Lourenço NCV, Oliveira BA, Manuli ER, Corral MA, Cavaçana N, Mitne-Neto M, Sales MM, Dell’Aquila LP, Razuk Filho A, Parrillo EF, Mendes-Correa MC, Sabino EC, Costa SF, Leal FE, Sgro GG, Farah CS, Zatz M, Passos-Bueno MR. A novel saliva RT-LAMP workflow for rapid identification of COVID-19 cases and restraining viral spread [Internet]. Diagnostics. 2021 ; 11( 8): 1-19.[citado 2024 maio 10 ] Available from: https://doi.org/10.3390/diagnostics11081400
Vancouver
Kobayashi GS, Brito LA, Moreira D de P, Suzuki AM, Hsia GSP, Pimentel LF, Paiva APB de, Dias CR, Lourenço NCV, Oliveira BA, Manuli ER, Corral MA, Cavaçana N, Mitne-Neto M, Sales MM, Dell’Aquila LP, Razuk Filho A, Parrillo EF, Mendes-Correa MC, Sabino EC, Costa SF, Leal FE, Sgro GG, Farah CS, Zatz M, Passos-Bueno MR. A novel saliva RT-LAMP workflow for rapid identification of COVID-19 cases and restraining viral spread [Internet]. Diagnostics. 2021 ; 11( 8): 1-19.[citado 2024 maio 10 ] Available from: https://doi.org/10.3390/diagnostics11081400
Artigo de periodico
Waardenburg syndrome: novel mutations in a large Brazilian (2018)
Bocángel, Magnolia Astrid Pretell; Melo, Uirá Souto; Alves, Leandro Ucela; Pardono, Eliete; Lourenço, Naila Cristina Vilaça; Marcolino, Humberto Vicente Cezar; Otto, Paulo A ; Mingroni Netto, Regina Celia
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA, GENÉTICA MOLECULAR, GENES
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ABNT
BOCÁNGEL, Magnolia Astrid Pretell et al. Waardenburg syndrome: novel mutations in a large Brazilian. European Journal of Medical Genetics, p. 1-7, 2018Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2018.01.012. Acesso em: 10 maio 2024.
APA
Bocángel, M. A. P., Melo, U. S., Alves, L. U., Pardono, E., Lourenço, N. C. V., Marcolino, H. V. C., et al. (2018). Waardenburg syndrome: novel mutations in a large Brazilian. European Journal of Medical Genetics, 1-7. doi:10.1016/j.ejmg.2018.01.012
NLM
Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni Netto RC. Waardenburg syndrome: novel mutations in a large Brazilian [Internet]. European Journal of Medical Genetics. 2018 ; 1-7.[citado 2024 maio 10 ] Available from: https://doi.org/10.1016/j.ejmg.2018.01.012
Vancouver
Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni Netto RC. Waardenburg syndrome: novel mutations in a large Brazilian [Internet]. European Journal of Medical Genetics. 2018 ; 1-7.[citado 2024 maio 10 ] Available from: https://doi.org/10.1016/j.ejmg.2018.01.012
Artigo de periodico
Dystrophin is required for proper functioning of luminance and red–green cone opponent mechanisms in the human retina (2016)
Barboni, Mirella Telles Salgueiro; Martins, Cristiane Maria Gomes; Nagy, Balázs Vince; Tsai, Tina; Damico, Franscisco Max; Costa, Marcelo Fernandes da ; Pavanello, Rita de Cassia M; Lourenço, Naila Cristina Vilaça; Cerqueira, Antonia Maria Pereira de; Zatz, Mayana ; Kremers, Jan; Ventura, Dora Selma Fix
Source: Investigative Ophthalmology & Visual Science. Unidades: IP, IB
Subjects: RETINA, VISÃO, ELETRORRETINOGRAFIA, DISTROFIA MUSCULAR, DOENÇAS NEURODEGENERATIVAS, PROTEÍNAS MUSCULARES, ELETROFISIOLOGIA, PERCEPÇÃO DE COR
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ABNT
BARBONI, Mirella Telles Salgueiro et al. Dystrophin is required for proper functioning of luminance and red–green cone opponent mechanisms in the human retina. Investigative Ophthalmology & Visual Science, v. 57, n. 8, p. 3581-3587, 2016Tradução . . Disponível em: https://doi.org/10.1167/iovs.16-19287. Acesso em: 10 maio 2024.
APA
Barboni, M. T. S., Martins, C. M. G., Nagy, B. V., Tsai, T., Damico, F. M., Costa, M. F. da, et al. (2016). Dystrophin is required for proper functioning of luminance and red–green cone opponent mechanisms in the human retina. Investigative Ophthalmology & Visual Science, 57( 8), 3581-3587. doi:10.1167/iovs.16-19287
NLM
Barboni MTS, Martins CMG, Nagy BV, Tsai T, Damico FM, Costa MF da, Pavanello R de CM, Lourenço NCV, Cerqueira AMP de, Zatz M, Kremers J, Ventura DSF. Dystrophin is required for proper functioning of luminance and red–green cone opponent mechanisms in the human retina [Internet]. Investigative Ophthalmology & Visual Science. 2016 ;57( 8): 3581-3587.[citado 2024 maio 10 ] Available from: https://doi.org/10.1167/iovs.16-19287
Vancouver
Barboni MTS, Martins CMG, Nagy BV, Tsai T, Damico FM, Costa MF da, Pavanello R de CM, Lourenço NCV, Cerqueira AMP de, Zatz M, Kremers J, Ventura DSF. Dystrophin is required for proper functioning of luminance and red–green cone opponent mechanisms in the human retina [Internet]. Investigative Ophthalmology & Visual Science. 2016 ;57( 8): 3581-3587.[citado 2024 maio 10 ] Available from: https://doi.org/10.1167/iovs.16-19287
Artigo de periodico
Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina (2016)
Barboni, Mirella Telles Salgueiro; Martins, Cristiane Maria Gomes; Nagy, Balazs Vince; Tsai, Tina; Damico, Francisco Max; Costa, Marcelo Fernandes da ; Pavanello, Rita de Cássia M; Lourenço, Naila Cristina Vilaça; Cerqueira, Antonia Maria Pereira de; Zatz, Mayana ; Kremers, Jan; Ventura, Dora Selma Fix
Source: Investigative Ophthalmology & Visual Science. Unidade: IP
Subjects: RETINA, DISTROFIA MUSCULAR
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BARBONI, Mirella Telles Salgueiro et al. Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina. Investigative Ophthalmology & Visual Science, p. 3581-3587, 2016Tradução . . Disponível em: https://doi.org/10.1167/iovs.16-19287. Acesso em: 10 maio 2024.
APA
Barboni, M. T. S., Martins, C. M. G., Nagy, B. V., Tsai, T., Damico, F. M., Costa, M. F. da, et al. (2016). Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina. Investigative Ophthalmology & Visual Science, 3581-3587. doi:10.1167/iovs.16-19287
NLM
Barboni MTS, Martins CMG, Nagy BV, Tsai T, Damico FM, Costa MF da, Pavanello R de CM, Lourenço NCV, Cerqueira AMP de, Zatz M, Kremers J, Ventura DSF. Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina [Internet]. Investigative Ophthalmology & Visual Science. 2016 ; 3581-3587.[citado 2024 maio 10 ] Available from: https://doi.org/10.1167/iovs.16-19287
Vancouver
Barboni MTS, Martins CMG, Nagy BV, Tsai T, Damico FM, Costa MF da, Pavanello R de CM, Lourenço NCV, Cerqueira AMP de, Zatz M, Kremers J, Ventura DSF. Dystrophin Is Required for Proper Functioning of Luminance and Red–Green Cone Opponent Mechanisms in the Human Retina [Internet]. Investigative Ophthalmology & Visual Science. 2016 ; 3581-3587.[citado 2024 maio 10 ] Available from: https://doi.org/10.1167/iovs.16-19287
Artigo de periodico
Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology? (2015)
Faria, Ágatha Cristhina; Rabbi-Bortolini, Eliete; Reboucas, Maria R. G. O; Pereira, Andreia L. A. de S. Thiago; Frasson, Milena G. Tonini; Atique, Rodrigo; Lourenço, Naila Cristina Vilaça; Rosenberg, Carla ; Kobayashi, Gerson Shigeru; Passos-Bueno, Maria Rita ; Errera, Flávia Imbroisi Valle
Source: American Journal of Medical Genetics Part A. Unidade: IB
Subjects: CRANIOSSINOSTOSE, ANORMALIDADES CRANIOFACIAIS, GENÉTICA MOLECULAR, DOENÇAS GENÉTICAS, CÉREBRO (DESENVOLVIMENTO), MUTAÇÃO GENÉTICA
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ABNT
FARIA, Ágatha Cristhina et al. Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology?. American Journal of Medical Genetics Part A, v. No 2015, p. 1-7, 2015Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.37448. Acesso em: 10 maio 2024.
APA
Faria, Á. C., Rabbi-Bortolini, E., Reboucas, M. R. G. O., Pereira, A. L. A. de S. T., Frasson, M. G. T., Atique, R., et al. (2015). Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology? American Journal of Medical Genetics Part A, No 2015, 1-7. doi:10.1002/ajmg.a.37448
NLM
Faria ÁC, Rabbi-Bortolini E, Reboucas MRGO, Pereira ALA de ST, Frasson MGT, Atique R, Lourenço NCV, Rosenberg C, Kobayashi GS, Passos-Bueno MR, Errera FIV. Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology? [Internet]. American Journal of Medical Genetics Part A. 2015 ; No 2015 1-7.[citado 2024 maio 10 ] Available from: https://doi.org/10.1002/ajmg.a.37448
Vancouver
Faria ÁC, Rabbi-Bortolini E, Reboucas MRGO, Pereira ALA de ST, Frasson MGT, Atique R, Lourenço NCV, Rosenberg C, Kobayashi GS, Passos-Bueno MR, Errera FIV. Craniosynostosis in 10q26 deletion patients: a consequence of brain underdevelopment or altered suture biology? [Internet]. American Journal of Medical Genetics Part A. 2015 ; No 2015 1-7.[citado 2024 maio 10 ] Available from: https://doi.org/10.1002/ajmg.a.37448
Artigo de periodico
Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy (2014)
Moreira, Danielle de Paula; Oliveira, Karina Griesi; Bossolani Martins, Ana L.; Lourenço, Naila Cristina Vilaça; Takahashi, Vanessa Naomi van Opstal; Rocha, Katia Maria da; Moreira, Eloisa de Sá; Vadasz, Estevão; Meira, Joanna Goes Castro; Bertola, Debora; O’Halloran, Eoghan; Magalhães, Tiago R; Fett Conte, Agnes C.; Passos-Bueno, Maria Rita
Source: PLOS ONE. Unidade: IB
Subjects: AUTISMO, DOENÇAS GENÉTICAS, EPILEPSIA
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ABNT
MOREIRA, Danielle de Paula et al. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy. PLOS ONE, v. 9, n. 9, p. Se 2014, 2014Tradução . . Disponível em: https://doi.org/10.1371/journal.pone.0107705. Acesso em: 10 maio 2024.
APA
Moreira, D. de P., Oliveira, K. G., Bossolani Martins, A. L., Lourenço, N. C. V., Takahashi, V. N. van O., Rocha, K. M. da, et al. (2014). Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy. PLOS ONE, 9( 9), Se 2014. doi:10.1371/journal.pone.0107705
NLM
Moreira D de P, Oliveira KG, Bossolani Martins AL, Lourenço NCV, Takahashi VN van O, Rocha KM da, Moreira E de S, Vadasz E, Meira JGC, Bertola D, O’Halloran E, Magalhães TR, Fett Conte AC, Passos-Bueno MR. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy [Internet]. PLOS ONE. 2014 ; 9( 9): Se 2014.[citado 2024 maio 10 ] Available from: https://doi.org/10.1371/journal.pone.0107705
Vancouver
Moreira D de P, Oliveira KG, Bossolani Martins AL, Lourenço NCV, Takahashi VN van O, Rocha KM da, Moreira E de S, Vadasz E, Meira JGC, Bertola D, O’Halloran E, Magalhães TR, Fett Conte AC, Passos-Bueno MR. Investigation of 15q11-q13, 16p11.2 and 22q13 CNVs in Autism Spectrum Disorder Brazilian Individuals with and without Epilepsy [Internet]. PLOS ONE. 2014 ; 9( 9): Se 2014.[citado 2024 maio 10 ] Available from: https://doi.org/10.1371/journal.pone.0107705
Artigo de periodico
Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report (2014)
Cuperman, Thais; Fernandes, Stephanie A; Lourenço, Naila Cristina Vilaça; Yamamoto, Lydia Uraco; Silva, Helga Cristina Almeida da; Pavanello, Rita de Cássia M; Yamamoto, Guilherme L; Zatz, Mayana ; Oliveira, Acary S. B; Vainzof, Mariz
Source: BMC Research Notes. Unidade: IB
Subjects: MIOPATIAS CONGÊNITAS ESTRUTURAIS, MUTAÇÃO GENÉTICA, FENÓTIPOS, DOENÇAS NEUROMUSCULARES
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ABNT
CUPERMAN, Thais et al. Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report. BMC Research Notes, v. 7, p. 1-5, 2014Tradução . . Disponível em: https://doi.org/10.1186/1756-0500-7-487. Acesso em: 10 maio 2024.
APA
Cuperman, T., Fernandes, S. A., Lourenço, N. C. V., Yamamoto, L. U., Silva, H. C. A. da, Pavanello, R. de C. M., et al. (2014). Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report. BMC Research Notes, 7, 1-5. doi:10.1186/1756-0500-7-487
NLM
Cuperman T, Fernandes SA, Lourenço NCV, Yamamoto LU, Silva HCA da, Pavanello R de CM, Yamamoto GL, Zatz M, Oliveira ASB, Vainzof M. Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report [Internet]. BMC Research Notes. 2014 ; 7 1-5.[citado 2024 maio 10 ] Available from: https://doi.org/10.1186/1756-0500-7-487
Vancouver
Cuperman T, Fernandes SA, Lourenço NCV, Yamamoto LU, Silva HCA da, Pavanello R de CM, Yamamoto GL, Zatz M, Oliveira ASB, Vainzof M. Silent polymorphisms in the RYR1 gene do not modify the phenotype of the p.4898 I>T pathogenic mutation in central core disease: a case report [Internet]. BMC Research Notes. 2014 ; 7 1-5.[citado 2024 maio 10 ] Available from: https://doi.org/10.1186/1756-0500-7-487

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