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Artigo de periodico
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil (2024)
Migliavacca, Michele P ; Sobreira, Joselito ; Bermeo, Diana; Gomes, Mireille; Alencar, Dayse; Sussuchi, Luciane; Souza, Camila Alves; Silva, Juliana Santos; Kroll, José Eduardo; Burger, Matheus; Sousa, Rodrigo Guarischi ; Villela, Darine ; Yamamoto, Guilherme L ; Milanezi, Fernanda ; Horigoshi, Nelson; Cesar, Regina Grigolli; Carvalho, Werther Brunow de ; Honjo, Rachel Sayuri ; Bertola, Débora Romeo ; Kim, Chong Ae ; Souza, Lucian de; Procianoy, Renato S; Silveria, Rita C; Rosenberg, Carla ; Giugliani, Roberto ; Campana, Gustavo Aguiar; Scapulatempo-Neto, Cristovam ; Sobreira, Nara
Source: American Journal of Medical Genetics. Part A. Unidades: BIOINFORMÁTICA, FM, IB
Subjects: PEDIATRIA, SEQUENCIAMENTO GENÉTICO, DOENÇAS DO RECÉM-NASCIDO
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ABNT
MIGLIAVACCA, Michele P et al. Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil. American Journal of Medical Genetics. Part A, n. ja, 2024Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63544. Acesso em: 26 maio 2024.
APA
Migliavacca, M. P., Sobreira, J., Bermeo, D., Gomes, M., Alencar, D., Sussuchi, L., et al. (2024). Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil. American Journal of Medical Genetics. Part A, (ja). doi:10.1002/ajmg.a.63544
NLM
Migliavacca MP, Sobreira J, Bermeo D, Gomes M, Alencar D, Sussuchi L, Souza CA, Silva JS, Kroll JE, Burger M, Sousa RG, Villela D, Yamamoto GL, Milanezi F, Horigoshi N, Cesar RG, Carvalho WB de, Honjo RS, Bertola DR, Kim CA, Souza L de, Procianoy RS, Silveria RC, Rosenberg C, Giugliani R, Campana GA, Scapulatempo-Neto C, Sobreira N. Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil [Internet]. American Journal of Medical Genetics. Part A. 2024 ;(ja):[citado 2024 maio 26 ] Available from: https://doi.org/10.1002/ajmg.a.63544
Vancouver
Migliavacca MP, Sobreira J, Bermeo D, Gomes M, Alencar D, Sussuchi L, Souza CA, Silva JS, Kroll JE, Burger M, Sousa RG, Villela D, Yamamoto GL, Milanezi F, Horigoshi N, Cesar RG, Carvalho WB de, Honjo RS, Bertola DR, Kim CA, Souza L de, Procianoy RS, Silveria RC, Rosenberg C, Giugliani R, Campana GA, Scapulatempo-Neto C, Sobreira N. Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: a pilot study in Brazil [Internet]. American Journal of Medical Genetics. Part A. 2024 ;(ja):[citado 2024 maio 26 ] Available from: https://doi.org/10.1002/ajmg.a.63544
Artigo de periodico
Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders (2024)
Tolezano, Giovanna Cantini; Bastos, Giovanna Civitate; Costa, Silvia Souza da; Scliar, Marília de Oliveira; Souza, Carolina Fischinger Moura de; Linden Jr, Hélio Van Der; Fernandes, Walter Luiz Magalhães; Otto, Paulo A ; Vianna-Morgante, Angela M ; Haddad, Luciana Amaral ; Honjo, Rachel Sayuri; Yamamoto, Guilherme Lopes; Kim, Chong Ae; Rosenberg, Carla ; Jorge, Alexander Augusto de Lima ; Bertola, Débora Romeo ; Krepischi, Ana Cristina Victorino
Source: Molecular Neurobiology. Unidades: IB, BIOINFORMÁTICA, FM
Subjects: MICROCEFALIA, NEUROLOGIA, GENÉTICA
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ABNT
TOLEZANO, Giovanna Cantini et al. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders. Molecular Neurobiology, 2024Tradução . . Disponível em: https://doi.org/10.1007/s12035-023-03894-8. Acesso em: 26 maio 2024.
APA
Tolezano, G. C., Bastos, G. C., Costa, S. S. da, Scliar, M. de O., Souza, C. F. M. de, Linden Jr, H. V. D., et al. (2024). Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders. Molecular Neurobiology. doi:10.1007/s12035-023-03894-8
NLM
Tolezano GC, Bastos GC, Costa SS da, Scliar M de O, Souza CFM de, Linden Jr HVD, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AA de L, Bertola DR, Krepischi ACV. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders [Internet]. Molecular Neurobiology. 2024 ;[citado 2024 maio 26 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
Vancouver
Tolezano GC, Bastos GC, Costa SS da, Scliar M de O, Souza CFM de, Linden Jr HVD, Fernandes WLM, Otto PA, Vianna-Morgante AM, Haddad LA, Honjo RS, Yamamoto GL, Kim CA, Rosenberg C, Jorge AA de L, Bertola DR, Krepischi ACV. Clinical characterization and underlying genetic findings in brazilian patients with syndromic microcephaly associated with neurodevelopmental disorders [Internet]. Molecular Neurobiology. 2024 ;[citado 2024 maio 26 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
Artigo de periodico
A comprehensive review of syndromic forms of obesity: genetic etiology, clinical features and molecular diagnosis (2024)
Carvalho, Laura Machado Lara ; Jorge, Alexander Augusto de Lima ; Bertola, Débora Romeo ; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Source: Current Obesity Reports. Unidades: FM, IB
Subjects: OBESIDADE, GENÉTICA
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ABNT
CARVALHO, Laura Machado Lara et al. A comprehensive review of syndromic forms of obesity: genetic etiology, clinical features and molecular diagnosis. Current Obesity Reports, n. 26 Ja 2024, 2024Tradução . . Disponível em: https://doi.org/10.1007/s13679-023-00543-y. Acesso em: 26 maio 2024.
APA
Carvalho, L. M. L., Jorge, A. A. de L., Bertola, D. R., Krepischi, A. C. V., & Rosenberg, C. (2024). A comprehensive review of syndromic forms of obesity: genetic etiology, clinical features and molecular diagnosis. Current Obesity Reports, (26 Ja 2024). doi:10.1007/s13679-023-00543-y
NLM
Carvalho LML, Jorge AA de L, Bertola DR, Krepischi ACV, Rosenberg C. A comprehensive review of syndromic forms of obesity: genetic etiology, clinical features and molecular diagnosis [Internet]. Current Obesity Reports. 2024 ;(26 Ja 2024):[citado 2024 maio 26 ] Available from: https://doi.org/10.1007/s13679-023-00543-y
Vancouver
Carvalho LML, Jorge AA de L, Bertola DR, Krepischi ACV, Rosenberg C. A comprehensive review of syndromic forms of obesity: genetic etiology, clinical features and molecular diagnosis [Internet]. Current Obesity Reports. 2024 ;(26 Ja 2024):[citado 2024 maio 26 ] Available from: https://doi.org/10.1007/s13679-023-00543-y
Artigo de periodico
A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation (2023)
Dangoni, Gustavo Dib ; Teixeira, Anne Caroline Barbosa ; Aguiar, Talita Ferreira ; Sugayama, Sofia Mizuho Miura; Odone Filho, Vicente ; Bertola, Débora Romeo ; Krepischi, Ana Cristina Victorino
Source: Pediatric blood & cancer. Unidades: IB, FM
Subjects: NEOPLASIAS HEPÁTICAS, CRIANÇAS, DESENVOLVIMENTO INFANTIL, ESTUDO DE CASO
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ABNT
DANGONI, Gustavo Dib et al. A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation. Pediatric blood & cancer, v. 70, n. 7, 2023Tradução . . Disponível em: https://observatorio.fm.usp.br/handle/OPI/54762. Acesso em: 26 maio 2024.
APA
Dangoni, G. D., Teixeira, A. C. B., Aguiar, T. F., Sugayama, S. M. M., Odone Filho, V., Bertola, D. R., & Krepischi, A. C. V. (2023). A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation. Pediatric blood & cancer, 70( 7). doi:10.1002/pbc.30311
NLM
Dangoni GD, Teixeira ACB, Aguiar TF, Sugayama SMM, Odone Filho V, Bertola DR, Krepischi ACV. A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation [Internet]. Pediatric blood & cancer. 2023 ; 70( 7):[citado 2024 maio 26 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54762
Vancouver
Dangoni GD, Teixeira ACB, Aguiar TF, Sugayama SMM, Odone Filho V, Bertola DR, Krepischi ACV. A rare case of hepatoblastoma in a syndromic child with a de novo germline JAG1 mutation [Internet]. Pediatric blood & cancer. 2023 ; 70( 7):[citado 2024 maio 26 ] Available from: https://observatorio.fm.usp.br/handle/OPI/54762
Artigo de periodico
Rothmund-Thomson syndrome, a disorder far from solved (2023)
Martins, Davi Jardim ; Lazzaro Filho, Ricardo di ; Bertola, Débora Romeo ; Hoch, Nicolas Carlos
Source: Frontiers Aging. Unidades: IB, IQ
Subjects: GENÔMICA, VULCANISMO
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ABNT
MARTINS, Davi Jardim et al. Rothmund-Thomson syndrome, a disorder far from solved. Frontiers Aging, v. 4, p. 1-13 art. 1296409, 2023Tradução . . Disponível em: https://dx.doi.org/10.3389/fragi.2023.1296409. Acesso em: 26 maio 2024.
APA
Martins, D. J., Lazzaro Filho, R. di, Bertola, D. R., & Hoch, N. C. (2023). Rothmund-Thomson syndrome, a disorder far from solved. Frontiers Aging, 4, 1-13 art. 1296409. doi:10.3389/fragi.2023.1296409
NLM
Martins DJ, Lazzaro Filho R di, Bertola DR, Hoch NC. Rothmund-Thomson syndrome, a disorder far from solved [Internet]. Frontiers Aging. 2023 ; 4 1-13 art. 1296409.[citado 2024 maio 26 ] Available from: https://dx.doi.org/10.3389/fragi.2023.1296409
Vancouver
Martins DJ, Lazzaro Filho R di, Bertola DR, Hoch NC. Rothmund-Thomson syndrome, a disorder far from solved [Internet]. Frontiers Aging. 2023 ; 4 1-13 art. 1296409.[citado 2024 maio 26 ] Available from: https://dx.doi.org/10.3389/fragi.2023.1296409
Artigo de periodico
Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome (2023)
Lazzaro Filho, Ricardo Di; Yamamoto, Guilherme Lopes; Silva, Tiago J; Rocha, Leticia A; Linnenkamp, Bianca D. W; Castro, Matheus Augusto Araújo; Bartholdi, Deborah; Schaller, André; Leeb, Tosso; Kelmann, Samantha; Utagawa, Claudia Y; Steiner, Carlos E; Steinmetz, Leandra; Honjo, Rachel Sayuri; Kim, Chong Ae ; Wang, Lisa; Abourjaili-Bilodeau, Raphaël; Campeau, Philippe M; Warma, Matthew; Passos-Bueno, Maria Rita ; Hoch, Nicolas Carlos ; Bertola, Débora Romeo
Source: Journal of Medical Genetics. Unidades: BIOINFORMÁTICA, FM, IB, IQ
Subjects: GENÉTICA MÉDICA, ANÁLISE DE SEQUÊNCIA DE DNA, DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA
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ABNT
LAZZARO FILHO, Ricardo Di et al. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics, 2023Tradução . . Disponível em: https://doi.org/10.1136/jmg-2022-109119. Acesso em: 26 maio 2024.
APA
Lazzaro Filho, R. D., Yamamoto, G. L., Silva, T. J., Rocha, L. A., Linnenkamp, B. D. W., Castro, M. A. A., et al. (2023). Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome. Journal of Medical Genetics. doi:10.1136/jmg-2022-109119
NLM
Lazzaro Filho RD, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warma M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome [Internet]. Journal of Medical Genetics. 2023 ;[citado 2024 maio 26 ] Available from: https://doi.org/10.1136/jmg-2022-109119
Vancouver
Lazzaro Filho RD, Yamamoto GL, Silva TJ, Rocha LA, Linnenkamp BDW, Castro MAA, Bartholdi D, Schaller A, Leeb T, Kelmann S, Utagawa CY, Steiner CE, Steinmetz L, Honjo RS, Kim CA, Wang L, Abourjaili-Bilodeau R, Campeau PM, Warma M, Passos-Bueno MR, Hoch NC, Bertola DR. Biallelic variants in DNA2 cause poikiloderma with congenital cataracts and severe growth failure reminiscent of Rothmund-Thomson syndrome [Internet]. Journal of Medical Genetics. 2023 ;[citado 2024 maio 26 ] Available from: https://doi.org/10.1136/jmg-2022-109119
Artigo de periodico
Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants (2023)
Chaves, Luiza D; Carvalho, Laura M. L; Tolezano, Giovanna C; Pires, Sara F; Costa, Silvia S; Scliar, Marília O. de; Giuliani, Liane de R; Bertola, Débora Romeo ; Santos-Rebouças, Cíntia B; Seo, Go Hun; Otto, Paulo A ; Rosenberg, Carla ; Vianna-Morgante, Angela M ; Krepischi, Ana Cristina Victorino
Source: Molecular Neurobiology. Unidade: IB
Subjects: MULHERES, CROMOSSOMO X, RETARDO MENTAL, GENÉTICA MÉDICA
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ABNT
CHAVES, Luiza D et al. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants. Molecular Neurobiology, v. 60, p. 3758–3769, 2023Tradução . . Disponível em: https://doi.org/10.1007/s12035-023-03311-0. Acesso em: 26 maio 2024.
APA
Chaves, L. D., Carvalho, L. M. L., Tolezano, G. C., Pires, S. F., Costa, S. S., Scliar, M. O. de, et al. (2023). Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants. Molecular Neurobiology, 60, 3758–3769. doi:10.1007/s12035-023-03311-0
NLM
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO de, Giuliani L de R, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants [Internet]. Molecular Neurobiology. 2023 ; 60 3758–3769.[citado 2024 maio 26 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
Vancouver
Chaves LD, Carvalho LML, Tolezano GC, Pires SF, Costa SS, Scliar MO de, Giuliani L de R, Bertola DR, Santos-Rebouças CB, Seo GH, Otto PA, Rosenberg C, Vianna-Morgante AM, Krepischi ACV. Skewed x-chromosome inactivation in women with idiopathic intellectual disability is indicative of pathogenic variants [Internet]. Molecular Neurobiology. 2023 ; 60 3758–3769.[citado 2024 maio 26 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
Parte de monografia/livro
Síntromes genéticas e cardiopatias (2022)
Bertola, Débora Romeo ; Kawahira, Rachel Sayuri Honjo; Albano, Lilian Maria José; Kim, Chong Ae
Source: Tratado de cardiologia socesp. Unidades: IB, FM
Subjects: DOENÇAS GENÉTICAS, CARDIOPATIAS
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ABNT
BERTOLA, Débora Romeo et al. Síntromes genéticas e cardiopatias. Tratado de cardiologia socesp. Tradução . Santana de Parnaíba[SP]: Manole, 2022. . . Acesso em: 26 maio 2024.
APA
Bertola, D. R., Kawahira, R. S. H., Albano, L. M. J., & Kim, C. A. (2022). Síntromes genéticas e cardiopatias. In Tratado de cardiologia socesp. Santana de Parnaíba[SP]: Manole.
NLM
Bertola DR, Kawahira RSH, Albano LMJ, Kim CA. Síntromes genéticas e cardiopatias. In: Tratado de cardiologia socesp. Santana de Parnaíba[SP]: Manole; 2022. [citado 2024 maio 26 ]
Vancouver
Bertola DR, Kawahira RSH, Albano LMJ, Kim CA. Síntromes genéticas e cardiopatias. In: Tratado de cardiologia socesp. Santana de Parnaíba[SP]: Manole; 2022. [citado 2024 maio 26 ]
Artigo de periodico
Phenotypic and mutational spectrum of ROR2-related Robinow syndrome (2022)
Lima, Ariadne R.; Ferreira, Barbara M.; Zhang, Chaofan; Jolly, Angad; Du, Haowei ; White, Janson J.; Dawood, Moez; Lins, Tulio C.; Chiabai, Marcela A.; van Beusekom, Ellen; Cordoba, Mara S.; Rosa, Erica C. C. Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri-Costa, Antonio ; Brunoni, Décio; Canó, Talyta M.; Jorge, Alexander A. L. ; Kim, Chong Ae ; Honjo, Rachel ; Bertola, Débora R. ; Dandalo-Girardi, Raissa M.; Bayram, Yavuz; Gezdirici, Alper; Yilmaz-Gulec, Elif; Gumus, Evren; Yilmaz, Gülay C.; Okamoto, Nobuhiko ; Ohashi, Hirofumi; Coban–Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N.; Muzny, Donna M.; Regattieri, Neysa A. P. ; Pogue, Robert ; Pereira, Rinaldo W.; Otto, Paulo A ; Gibbs, Richard A.; Ali, Bassam R.; van Bokhoven, Hans; Brunner, Han G.; Sutton, V. Reid; Lupski, James R. ; Vianna-Morgante, Angela M ; Carvalho, Claudia M. B. ; Mazzeu, Juliana F.
Source: Human Mutation. Unidades: HRAC, FM, IB
Subjects: FENÓTIPOS, MORFOLOGIA (ANATOMIA), SEQUENCIAMENTO GENÉTICO
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ABNT
LIMA, Ariadne R. et al. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, v. 43, n. 7, p. 900-918, 2022Tradução . . Disponível em: https://doi.org/10.1002/humu.24375. Acesso em: 26 maio 2024.
APA
Lima, A. R., Ferreira, B. M., Zhang, C., Jolly, A., Du, H., White, J. J., et al. (2022). Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Human Mutation, 43( 7), 900-918. doi:10.1002/humu.24375
NLM
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2024 maio 26 ] Available from: https://doi.org/10.1002/humu.24375
Vancouver
Lima AR, Ferreira BM, Zhang C, Jolly A, Du H, White JJ, Dawood M, Lins TC, Chiabai MA, van Beusekom E, Cordoba MS, Rosa ECCC, Kayserili H, Kimonis V, Wu E, Mellado C, Aggarwal V, Richieri-Costa A, Brunoni D, Canó TM, Jorge AAL, Kim CA, Honjo R, Bertola DR, Dandalo-Girardi RM, Bayram Y, Gezdirici A, Yilmaz-Gulec E, Gumus E, Yilmaz GC, Okamoto N, Ohashi H, Coban–Akdemir Z, Mitani T, Jhangiani SN, Muzny DM, Regattieri NAP, Pogue R, Pereira RW, Otto PA, Gibbs RA, Ali BR, van Bokhoven H, Brunner HG, Sutton VR, Lupski JR, Vianna-Morgante AM, Carvalho CMB, Mazzeu JF. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome [Internet]. Human Mutation. 2022 ; 43( 7): 900-918.[citado 2024 maio 26 ] Available from: https://doi.org/10.1002/humu.24375
Artigo de periodico
Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature (2022)
Tolezano, Giovanna Cantini; Bastos, Giovanna Civitate; Costa, Silvia Souza da; Freire, Bruna Lucheze; Homma, Thais Kataoka; Honjo, Rachel Sayuri ; Yamamoto, Guilherme Lopes ; Passos-Bueno, Maria Rita ; Koiffmann, Celia Priszkulnik ; Kim, Chong Ae ; Vianna-Morgante, Angela M ; Jorge, Alexander Augusto de Lima ; Bertola, Débora Romeo ; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino
Source: Journal of Autism and Developmental Disorders. Unidades: IB, FM
Subjects: MICROCEFALIA, REVISÃO SISTEMÁTICA
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ABNT
TOLEZANO, Giovanna Cantini et al. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10803-022-05853-z. Acesso em: 26 maio 2024.
APA
Tolezano, G. C., Bastos, G. C., Costa, S. S. da, Freire, B. L., Homma, T. K., Honjo, R. S., et al. (2022). Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders. doi:10.1007/s10803-022-05853-z
NLM
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 maio 26 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Vancouver
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 maio 26 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Artigo de periodico
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil (2022)
Krepischi, Ana Cristina Victorino ; Villela, Darine; Costa, Silvia Souza da; Bertola, Débora R. ; Vianna-Morgante, Angela M ; Pearson, Peter L; Rosenberg, Carla
Source: Scientific Reports. Unidade: IB
Subjects: DOENÇAS CONGÊNITAS, CROMOSSOMOS, GENÉTICA, ACONSELHAMENTO GENÉTICO
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ABNT
KREPISCHI, Ana Cristina Victorino et al. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Scientific Reports, v. 12, 2022Tradução . . Disponível em: https://doi.org/10.1038/s41598-022-19274-6. Acesso em: 26 maio 2024.
APA
Krepischi, A. C. V., Villela, D., Costa, S. S. da, Bertola, D. R., Vianna-Morgante, A. M., Pearson, P. L., & Rosenberg, C. (2022). Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil. Scientific Reports, 12. doi:10.1038/s41598-022-19274-6
NLM
Krepischi ACV, Villela D, Costa SS da, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil [Internet]. Scientific Reports. 2022 ; 12[citado 2024 maio 26 ] Available from: https://doi.org/10.1038/s41598-022-19274-6
Vancouver
Krepischi ACV, Villela D, Costa SS da, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil [Internet]. Scientific Reports. 2022 ; 12[citado 2024 maio 26 ] Available from: https://doi.org/10.1038/s41598-022-19274-6
Artigo de periodico
Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport (2022)
Moreira, Danielle de Paula; Suzuki, Angela May; Silva, André Luiz Teles e; Varella-Branco, Elisa; Meneghetti, Maria Cecília Zorél; Kobayashi, Gerson Shigeru ; Fogo, Mariana; Ferrari, Merari de Fátima Ramires ; Cardoso, Rafaela Regina; Lourenço, Naila Cristina Vilaça ; Griesi-Oliveira, Karina; Zachi, Elaine Cristina; Bertola, Débora Romeo; Weinmann, Karina de Souza; Lima, Marcelo Andrade de; Nader, Helena Bonciani; Sertié, Andrea Laurato; Passos-Bueno, Maria Rita
Source: Frontiers in Plant Science. Unidades: IB, IP
Subjects: NEUROBIOLOGIA, GENÉTICA MÉDICA, DOENÇAS CEREBRAIS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MOREIRA, Danielle de Paula et al. Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport. Frontiers in Plant Science, v. 12, 2022Tradução . . Disponível em: https://doi.org/10.3389/fncel.2021.803302. Acesso em: 26 maio 2024.
APA
Moreira, D. de P., Suzuki, A. M., Silva, A. L. T. e, Varella-Branco, E., Meneghetti, M. C. Z., Kobayashi, G. S., et al. (2022). Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport. Frontiers in Plant Science, 12. doi:10.3389/fncel.2021.803302
NLM
Moreira D de P, Suzuki AM, Silva ALT e, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari M de FR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann K de S, Lima MA de, Nader HB, Sertié AL, Passos-Bueno MR. Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport [Internet]. Frontiers in Plant Science. 2022 ; 12[citado 2024 maio 26 ] Available from: https://doi.org/10.3389/fncel.2021.803302
Vancouver
Moreira D de P, Suzuki AM, Silva ALT e, Varella-Branco E, Meneghetti MCZ, Kobayashi GS, Fogo M, Ferrari M de FR, Cardoso RR, Lourenço NCV, Griesi-Oliveira K, Zachi EC, Bertola DR, Weinmann K de S, Lima MA de, Nader HB, Sertié AL, Passos-Bueno MR. Neuroprogenitor cells from patients with TBCK encephalopathy suggest deregulation of early secretory vesicle transport [Internet]. Frontiers in Plant Science. 2022 ; 12[citado 2024 maio 26 ] Available from: https://doi.org/10.3389/fncel.2021.803302
Artigo de periodico
Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases (2022)
Honjo, Rachel Sayuri; Monteleone, Vanessa Figueiredo; Aiello, Vera Demarchi; Wagenfuhr, Jaqueline; Issa, Victor Sarli; Pomerantzeff, Pablo Maria Alberto ; Furusawa, Erika Arai; Zanardo, Evelin Aline; Kulikowski, Leslie Domenici; Bertola, Débora Romeo ; Kim, Chong Ae
Source: American journal of medical genetics part a. Unidades: FM, IB
Subjects: ESTENOSE DA VALVA AÓRTICA, PROLIFERAÇÃO CELULAR, INSUFICIÊNCIA RESPIRATÓRIA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
HONJO, Rachel Sayuri et al. Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases. American journal of medical genetics part a, v. 188, n. 2, p. 676-682, 2022Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.62542. Acesso em: 26 maio 2024.
APA
Honjo, R. S., Monteleone, V. F., Aiello, V. D., Wagenfuhr, J., Issa, V. S., Pomerantzeff, P. M. A., et al. (2022). Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases. American journal of medical genetics part a, 188( 2), 676-682. doi:10.1002/ajmg.a.62542
NLM
Honjo RS, Monteleone VF, Aiello VD, Wagenfuhr J, Issa VS, Pomerantzeff PMA, Furusawa EA, Zanardo EA, Kulikowski LD, Bertola DR, Kim CA. Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases [Internet]. American journal of medical genetics part a. 2022 ; 188( 2): 676-682.[citado 2024 maio 26 ] Available from: https://doi.org/10.1002/ajmg.a.62542
Vancouver
Honjo RS, Monteleone VF, Aiello VD, Wagenfuhr J, Issa VS, Pomerantzeff PMA, Furusawa EA, Zanardo EA, Kulikowski LD, Bertola DR, Kim CA. Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases [Internet]. American journal of medical genetics part a. 2022 ; 188( 2): 676-682.[citado 2024 maio 26 ] Available from: https://doi.org/10.1002/ajmg.a.62542
Artigo de periodico
Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome (2021)
Grochowski, Christopher M; Krepischi, Ana Cristina Victorino ; Eisfeldt, Jesper; Du, Haowei; Bertola, Debora R; Oliveira, Danyllo; Costa, Silvia S; Lupski, James R; Lindstrand, Anna; Carvalho, Claudia M. B
Source: Frontiers in Plant Science. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, DOENÇAS CONGÊNITAS, RETARDO MENTAL, ANORMALIDADES CROMOSSÔMICAS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
GROCHOWSKI, Christopher M et al. Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome. Frontiers in Plant Science, v. 12, 2021Tradução . . Disponível em: https://doi.org/10.3389/fgene.2021.708348. Acesso em: 26 maio 2024.
APA
Grochowski, C. M., Krepischi, A. C. V., Eisfeldt, J., Du, H., Bertola, D. R., Oliveira, D., et al. (2021). Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome. Frontiers in Plant Science, 12. doi:10.3389/fgene.2021.708348
NLM
Grochowski CM, Krepischi ACV, Eisfeldt J, Du H, Bertola DR, Oliveira D, Costa SS, Lupski JR, Lindstrand A, Carvalho CMB. Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome [Internet]. Frontiers in Plant Science. 2021 ; 12[citado 2024 maio 26 ] Available from: https://doi.org/10.3389/fgene.2021.708348
Vancouver
Grochowski CM, Krepischi ACV, Eisfeldt J, Du H, Bertola DR, Oliveira D, Costa SS, Lupski JR, Lindstrand A, Carvalho CMB. Chromoanagenesis event underlies a de novo pericentric and multiple paracentric inversions in a single chromosome causing Coffin-Siris Syndrome [Internet]. Frontiers in Plant Science. 2021 ; 12[citado 2024 maio 26 ] Available from: https://doi.org/10.3389/fgene.2021.708348
Artigo de periodico
Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms (2021)
Rocha, Letícia Alves da ; Pires, Lucas Vieira Lacerda ; Yamamoto, Guilherme Lopes ; Ceroni, José Ricardo Magliocco; Honjo, Rachel Sayuri; França Bisneto, Edgard de Novaes; Oliveira, Luiz Antônio Nunes; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino ; Passos-Bueno, Maria Rita ; Kim, Chong Ae ; Bertola, Débora Romeo
Source: Clinical Genetics. Unidades: IB, FM
Subjects: GENÉTICA MÉDICA, DOENÇAS CONGÊNITAS, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
ROCHA, Letícia Alves da et al. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, v. 100, n. 5, p. 615-623, 2021Tradução . . Disponível em: https://doi.org/10.1111/cge.14041. Acesso em: 26 maio 2024.
APA
Rocha, L. A. da, Pires, L. V. L., Yamamoto, G. L., Ceroni, J. R. M., Honjo, R. S., França Bisneto, E. de N., et al. (2021). Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, 100( 5), 615-623. doi:10.1111/cge.14041
NLM
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 maio 26 ] Available from: https://doi.org/10.1111/cge.14041
Vancouver
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 maio 26 ] Available from: https://doi.org/10.1111/cge.14041
Artigo de periodico
Two novel pathogenic variants in MED13L: one familial and one isolated case (2021)
Carvalho, L. M. L ; Costa, S. S. da; Campagnari, F; Kaufman, A; Bertola, Débora R. ; Silva, I. T. da ; Krepischi, Ana Cristina Victorino ; Koiffmann, Celia Priszkulnik ; Rosenberg, Carla
Source: Journal of Intellectual Disability Research. Unidades: FM, IB
Subjects: PESSOAS COM DEFICIÊNCIA INTELECTUAL, GENES
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ABNT
CARVALHO, L. M. L et al. Two novel pathogenic variants in MED13L: one familial and one isolated case. Journal of Intellectual Disability Research, v. 65, n. 12, p. 1049-1057, 2021Tradução . . Disponível em: https://doi.org/10.1111/jir.12891. Acesso em: 26 maio 2024.
APA
Carvalho, L. M. L., Costa, S. S. da, Campagnari, F., Kaufman, A., Bertola, D. R., Silva, I. T. da, et al. (2021). Two novel pathogenic variants in MED13L: one familial and one isolated case. Journal of Intellectual Disability Research, 65( 12), 1049-1057. doi:10.1111/jir.12891
NLM
Carvalho LML, Costa SS da, Campagnari F, Kaufman A, Bertola DR, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. Two novel pathogenic variants in MED13L: one familial and one isolated case [Internet]. Journal of Intellectual Disability Research. 2021 ; 65( 12): 1049-1057.[citado 2024 maio 26 ] Available from: https://doi.org/10.1111/jir.12891
Vancouver
Carvalho LML, Costa SS da, Campagnari F, Kaufman A, Bertola DR, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. Two novel pathogenic variants in MED13L: one familial and one isolated case [Internet]. Journal of Intellectual Disability Research. 2021 ; 65( 12): 1049-1057.[citado 2024 maio 26 ] Available from: https://doi.org/10.1111/jir.12891
Artigo de periodico
Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders (2021)
Calpena, Eduardo; Wurmser, Maud; McGowan, Simon J; Atique, Rodrigo; Bertola, Débora R; Cunningham , Michael L; Gustafson, Jonas A; Johnson, David; Morton, Jenny E. V; Passos-Bueno, Maria Rita ; Timberlake, Andre T; Lifton, Richa P; Wall, Steven A; Twigg, Stephen R. F; Maire, Pascal; Wilkie, Andrew O. M
Source: Journal of Medical Genetics. Unidade: IB
Subjects: CRANIOSSINOSTOSE, ANORMALIDADES CRANIOFACIAIS, DOENÇAS CONGÊNITAS, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CALPENA, Eduardo et al. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics, 2021Tradução . . Disponível em: https://doi.org/10.1136/jmedgenet-2020-107459. Acesso em: 26 maio 2024.
APA
Calpena, E., Wurmser, M., McGowan, S. J., Atique, R., Bertola, D. R., Cunningham , M. L., et al. (2021). Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders. Journal of Medical Genetics. doi:10.1136/jmedgenet-2020-107459
NLM
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 maio 26 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459
Vancouver
Calpena E, Wurmser M, McGowan SJ, Atique R, Bertola DR, Cunningham ML, Gustafson JA, Johnson D, Morton JEV, Passos-Bueno MR, Timberlake AT, Lifton RP, Wall SA, Twigg SRF, Maire P, Wilkie AOM. Unexpected role of SIX1 variants in craniosynostosis: expanding the phenotype of SIX1-related disorders [Internet]. Journal of Medical Genetics. 2021 ;[citado 2024 maio 26 ] Available from: https://doi.org/10.1136/jmedgenet-2020-107459
Artigo de periodico
Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil (2020)
Bertola, Débora R; Castro, Matheus A. A; Yamamoto, Guilherme Lopes ; Honjo, Rachel Sayuri ; Ceroni, José Ricardo; Buscarilli, Michele M; Freitas, Amanda B; Malaquias, Alexsandra C; Pereira, Alexandre C; Jorge, Alexander A. L; Passos-Bueno, Maria Rita ; Kim, Chong A
Source: American journal of medical genetics. Part C, Seminars in medical genetics. Unidades: IB, FM
Subjects: MUTAÇÃO GENÉTICA, ANOMALIA CRANIOFACIAL, FENÓTIPOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BERTOLA, Débora R et al. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. American journal of medical genetics. Part C, Seminars in medical genetics, v. 184, n. 4, p. 896-911, 2020Tradução . . Disponível em: https://doi.org/10.1002/ajmg.c.31851. Acesso em: 26 maio 2024.
APA
Bertola, D. R., Castro, M. A. A., Yamamoto, G. L., Honjo, R. S., Ceroni, J. R., Buscarilli, M. M., et al. (2020). Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil. American journal of medical genetics. Part C, Seminars in medical genetics, 184( 4), 896-911. doi:10.1002/ajmg.c.31851
NLM
Bertola DR, Castro MAA, Yamamoto GL, Honjo RS, Ceroni JR, Buscarilli MM, Freitas AB, Malaquias AC, Pereira AC, Jorge AAL, Passos-Bueno MR, Kim CA. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil [Internet]. American journal of medical genetics. Part C, Seminars in medical genetics. 2020 ; 184( 4): 896-911.[citado 2024 maio 26 ] Available from: https://doi.org/10.1002/ajmg.c.31851
Vancouver
Bertola DR, Castro MAA, Yamamoto GL, Honjo RS, Ceroni JR, Buscarilli MM, Freitas AB, Malaquias AC, Pereira AC, Jorge AAL, Passos-Bueno MR, Kim CA. Phenotype-genotype analysis of 242 individuals with RASopathies: 18-year experience of a tertiary center in Brazil [Internet]. American journal of medical genetics. Part C, Seminars in medical genetics. 2020 ; 184( 4): 896-911.[citado 2024 maio 26 ] Available from: https://doi.org/10.1002/ajmg.c.31851
Artigo de periodico
KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability (2018)
Malvezzi, João V. M; Magalhaes, Ingrid H; Costa, Sílvia S; Otto, Paulo A ; Rosenberg, Carla ; Bertola, Débora R; Fernandes, Walter L. M; Vianna-Morgante, Angela M ; Krepischi, Ana Cristina Victorino
Source: Human Genome Variation. Unidade: IB
Subjects: MICROCEFALIA, DEFICIÊNCIA MENTAL, MUTAÇÃO GENÉTICA, DELEÇÃO DE GENES, ANORMALIDADES CONGÊNITAS, DEFICIÊNCIA VISUAL, CÉLULAS-TRONCO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MALVEZZI, João V. M et al. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Human Genome Variation, v. 5, p. 1-3, 2018Tradução . . Disponível em: https://doi.org/10.1038/hgv.2018.10. Acesso em: 26 maio 2024.
APA
Malvezzi, J. V. M., Magalhaes, I. H., Costa, S. S., Otto, P. A., Rosenberg, C., Bertola, D. R., et al. (2018). KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability. Human Genome Variation, 5, 1-3. doi:10.1038/hgv.2018.10
NLM
Malvezzi JVM, Magalhaes IH, Costa SS, Otto PA, Rosenberg C, Bertola DR, Fernandes WLM, Vianna-Morgante AM, Krepischi ACV. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability [Internet]. Human Genome Variation. 2018 ; 5 1-3.[citado 2024 maio 26 ] Available from: https://doi.org/10.1038/hgv.2018.10
Vancouver
Malvezzi JVM, Magalhaes IH, Costa SS, Otto PA, Rosenberg C, Bertola DR, Fernandes WLM, Vianna-Morgante AM, Krepischi ACV. KIF11 microdeletion is associated with microcephaly, chorioretinopathy and intellectual disability [Internet]. Human Genome Variation. 2018 ; 5 1-3.[citado 2024 maio 26 ] Available from: https://doi.org/10.1038/hgv.2018.10
Artigo de periodico
Development of a comprehensive noninvasive prenatal test (2018)
Malcher, Carolina; Yamamoto, Guilherme L; Burnham, Philip; Ezquina, Suzana A. M; Lourenço, Naila C. V; Balkassmi, Sahilla; Antonio, David S. Marco; Hsia, Gabriella S. P; Gollop, Thomaz; Pavanello, Rita C; Lopes, Marco Antônio; Bakker, Egbert; Zatz, Mayana ; Bertola, Débora; Vlaminck, Iwijn De; Passos-Bueno, Maria Rita
Source: Genetics and Molecular Biology. Unidades: IB, FM
Subjects: DIAGNÓSTICO PRÉ-NATAL, SEQUENCIAMENTO GENÉTICO, ANORMALIDADES CROMOSSÔMICAS, GENÉTICA MÉDICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
MALCHER, Carolina et al. Development of a comprehensive noninvasive prenatal test. Genetics and Molecular Biology, v. 41, n. 3, p. 545-554, 2018Tradução . . Disponível em: https://doi.org/10.1590/1678-4685-gmb-2017-0177. Acesso em: 26 maio 2024.
APA
Malcher, C., Yamamoto, G. L., Burnham, P., Ezquina, S. A. M., Lourenço, N. C. V., Balkassmi, S., et al. (2018). Development of a comprehensive noninvasive prenatal test. Genetics and Molecular Biology, 41( 3), 545-554. doi:10.1590/1678-4685-gmb-2017-0177
NLM
Malcher C, Yamamoto GL, Burnham P, Ezquina SAM, Lourenço NCV, Balkassmi S, Antonio DSM, Hsia GSP, Gollop T, Pavanello RC, Lopes MA, Bakker E, Zatz M, Bertola D, Vlaminck ID, Passos-Bueno MR. Development of a comprehensive noninvasive prenatal test [Internet]. Genetics and Molecular Biology. 2018 ; 41( 3): 545-554.[citado 2024 maio 26 ] Available from: https://doi.org/10.1590/1678-4685-gmb-2017-0177
Vancouver
Malcher C, Yamamoto GL, Burnham P, Ezquina SAM, Lourenço NCV, Balkassmi S, Antonio DSM, Hsia GSP, Gollop T, Pavanello RC, Lopes MA, Bakker E, Zatz M, Bertola D, Vlaminck ID, Passos-Bueno MR. Development of a comprehensive noninvasive prenatal test [Internet]. Genetics and Molecular Biology. 2018 ; 41( 3): 545-554.[citado 2024 maio 26 ] Available from: https://doi.org/10.1590/1678-4685-gmb-2017-0177

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