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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
Fonte: American Journal of Medical Genetics. Part A. Unidades: BIOINFORMÁTICA, FM, IB
Assuntos: 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: 04 jun. 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 jun. 04 ] 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 jun. 04 ] 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
Fonte: Molecular Neurobiology. Unidades: IB, BIOINFORMÁTICA, FM
Assuntos: 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: 04 jun. 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 jun. 04 ] 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 jun. 04 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
Artigo de periodico
A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations (2024)
Costa, Silvia Souza da; Fishman, Veniamin ; Pinheiro, Mara; Rodrigueiro, Andre ; Sanseverino, Maria Teresa ; Zielinsky, Paulo ; Carvalho, Claudia M. B ; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino
Fonte: Chromosome Research: the international journal for all aspects of chromosome and nuclear biology. Unidade: IB
Assuntos: ESTENOSE DA VALVA AÓRTICA, ARTÉRIA PULMONAR
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ABNT
COSTA, Silvia Souza da et al. A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations. Chromosome Research: the international journal for all aspects of chromosome and nuclear biology, v. 32, n. 6, 2024Tradução . . Disponível em: https://doi.org/10.21203/rs.3.rs-3740005/v1. Acesso em: 04 jun. 2024.
APA
Costa, S. S. da, Fishman, V., Pinheiro, M., Rodrigueiro, A., Sanseverino, M. T., Zielinsky, P., et al. (2024). A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations. Chromosome Research: the international journal for all aspects of chromosome and nuclear biology, 32( 6). doi:10.21203/rs.3.rs-3740005/v1
NLM
Costa SS da, Fishman V, Pinheiro M, Rodrigueiro A, Sanseverino MT, Zielinsky P, Carvalho CMB, Rosenberg C, Krepischi ACV. A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations [Internet]. Chromosome Research: the international journal for all aspects of chromosome and nuclear biology. 2024 ; 32( 6):[citado 2024 jun. 04 ] Available from: https://doi.org/10.21203/rs.3.rs-3740005/v1
Vancouver
Costa SS da, Fishman V, Pinheiro M, Rodrigueiro A, Sanseverino MT, Zielinsky P, Carvalho CMB, Rosenberg C, Krepischi ACV. A germline chimeric KANK1-DMRT1 transcript derived from a complex structural variant is associated with a congenital heart defect segregating across five generations [Internet]. Chromosome Research: the international journal for all aspects of chromosome and nuclear biology. 2024 ; 32( 6):[citado 2024 jun. 04 ] Available from: https://doi.org/10.21203/rs.3.rs-3740005/v1
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
Fonte: Current Obesity Reports. Unidades: FM, IB
Assuntos: 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: 04 jun. 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 jun. 04 ] 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 jun. 04 ] Available from: https://doi.org/10.1007/s13679-023-00543-y
Artigo de periodico
Expanding the phenotype of 8p23.1 Deletion Syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion (2023)
Montenegro, Marilia Moreira ; Camilotti, Débora; Quaio, Robledo D'angioli Costa ; Gasparini, Yanca; Zanardo, Evelin Aline ; Rangel-Santos, Andreia; Novo-Filho, Gil Monteiro; Francisco, Gleyson; Liro, Lucas; Nascimento, Amom Mendes ; Chehimi, Samar Nasser ; Soares, Diogo Cordeiro Queiroz; Krepischi, Ana Cristina Victorino ; Grassi, Marcília Sierro; Honjo, Rachel Sayuri ; Palmeira, Patricia; Kim, Chong Ae ; Carneiro-Sampaio, Magda Maria Sales ; Rosenberg, Carla ; Kulikowski, Leslie Domenici
Fonte: The Journal of Pediatrics. Unidades: IB, FM
Assuntos: GENÉTICA MÉDICA, DELEÇÃO DE GENES, ANORMALIDADES CONGÊNITAS, DOENÇAS RARAS
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ABNT
MONTENEGRO, Marilia Moreira et al. Expanding the phenotype of 8p23.1 Deletion Syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion. The Journal of Pediatrics, v. 252, n. Ja 2023, p. 56-60, 2023Tradução . . Disponível em: https://doi.org/10.1016/j.jpeds.2022.08.051. Acesso em: 04 jun. 2024.
APA
Montenegro, M. M., Camilotti, D., Quaio, R. D. 'angioli C., Gasparini, Y., Zanardo, E. A., Rangel-Santos, A., et al. (2023). Expanding the phenotype of 8p23.1 Deletion Syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion. The Journal of Pediatrics, 252( Ja 2023), 56-60. doi:10.1016/j.jpeds.2022.08.051
NLM
Montenegro MM, Camilotti D, Quaio RD'angioli C, Gasparini Y, Zanardo EA, Rangel-Santos A, Novo-Filho GM, Francisco G, Liro L, Nascimento AM, Chehimi SN, Soares DCQ, Krepischi ACV, Grassi MS, Honjo RS, Palmeira P, Kim CA, Carneiro-Sampaio MMS, Rosenberg C, Kulikowski LD. Expanding the phenotype of 8p23.1 Deletion Syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion [Internet]. The Journal of Pediatrics. 2023 ; 252( Ja 2023): 56-60.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1016/j.jpeds.2022.08.051
Vancouver
Montenegro MM, Camilotti D, Quaio RD'angioli C, Gasparini Y, Zanardo EA, Rangel-Santos A, Novo-Filho GM, Francisco G, Liro L, Nascimento AM, Chehimi SN, Soares DCQ, Krepischi ACV, Grassi MS, Honjo RS, Palmeira P, Kim CA, Carneiro-Sampaio MMS, Rosenberg C, Kulikowski LD. Expanding the phenotype of 8p23.1 Deletion Syndrome: eight new cases resembling the clinical spectrum of 22q11.2 microdeletion [Internet]. The Journal of Pediatrics. 2023 ; 252( Ja 2023): 56-60.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1016/j.jpeds.2022.08.051
Artigo de periodico
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome (2023)
Carvalho, Laura Machado Lara; Branco, Elisa Varella ; Sarafian, Raquel Delgado ; Kobayashi, Gerson Shigeru ; Araújo, Fabiano Tófoli de; Souza, Lucas Santos ; Moreira, Danielle de Paula; Hsia, Gabriella Shih Ping ; Bertollo, Eny Maria Goloni; Buck, Cecília Barbosa; Costa, Silvia Souza da; Fialho, Davi Mendes; Vasconcelos, Felipe Tadeu Galante Rocha de; Brito, Luciano Abreu; Machado, Luciana Elena de Souza Fraga; Ramos, Igor Cabreira; Pereira, Lygia da Veiga ; Koiffmann, Celia Priszkulnik ; Passos-Bueno, Maria Rita ; Mendes, Tiago Antonio de Oliveira; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Fonte: Gene. Unidades: IB, BIOTECNOLOGIA, IQ
Assuntos: GENÉTICA MÉDICA, DOENÇAS GENÉTICAS, PESSOAS COM DEFICIÊNCIA INTELECTUAL
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ABNT
CARVALHO, Laura Machado Lara et al. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome. Gene, v. 871, 2023Tradução . . Disponível em: https://doi.org/10.1016/j.gene.2023.147424. Acesso em: 04 jun. 2024.
APA
Carvalho, L. M. L., Branco, E. V., Sarafian, R. D., Kobayashi, G. S., Araújo, F. T. de, Souza, L. S., et al. (2023). Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome. Gene, 871. doi:10.1016/j.gene.2023.147424
NLM
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, Araújo FT de, Souza LS, Moreira D de P, Hsia GSP, Bertollo EMG, Buck CB, Costa SS da, Fialho DM, Vasconcelos FTGR de, Brito LA, Machado LE de SF, Ramos IC, Pereira L da V, Koiffmann CP, Passos-Bueno MR, Mendes TA de O, Krepischi ACV, Rosenberg C. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome [Internet]. Gene. 2023 ; 871[citado 2024 jun. 04 ] Available from: https://doi.org/10.1016/j.gene.2023.147424
Vancouver
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, Araújo FT de, Souza LS, Moreira D de P, Hsia GSP, Bertollo EMG, Buck CB, Costa SS da, Fialho DM, Vasconcelos FTGR de, Brito LA, Machado LE de SF, Ramos IC, Pereira L da V, Koiffmann CP, Passos-Bueno MR, Mendes TA de O, Krepischi ACV, Rosenberg C. Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: models for Xia-Gibbs syndrome [Internet]. Gene. 2023 ; 871[citado 2024 jun. 04 ] Available from: https://doi.org/10.1016/j.gene.2023.147424
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
Fonte: Molecular Neurobiology. Unidade: IB
Assuntos: 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: 04 jun. 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 jun. 04 ] 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 jun. 04 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
Artigo de periodico
SCAF4-related syndromic intellectual disability (2023)
Carvalho, Laura Machado Lara ; Pinto, Carla Franchi; Scliar, Marília de Oliveira; Otto, Paulo A ; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Fonte: American Journal of Medical Genetics. Part A. Unidade: IB
Assuntos: GENÉTICA, PESSOAS COM DEFICIÊNCIA INTELECTUAL, GENES
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ABNT
CARVALHO, Laura Machado Lara et al. SCAF4-related syndromic intellectual disability. American Journal of Medical Genetics. Part A, v. 191, n. 2, p. 570-574, 2023Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63032. Acesso em: 04 jun. 2024.
APA
Carvalho, L. M. L., Pinto, C. F., Scliar, M. de O., Otto, P. A., Krepischi, A. C. V., & Rosenberg, C. (2023). SCAF4-related syndromic intellectual disability. American Journal of Medical Genetics. Part A, 191( 2), 570-574. doi:10.1002/ajmg.a.63032
NLM
Carvalho LML, Pinto CF, Scliar M de O, Otto PA, Krepischi ACV, Rosenberg C. SCAF4-related syndromic intellectual disability [Internet]. American Journal of Medical Genetics. Part A. 2023 ; 191( 2): 570-574.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63032
Vancouver
Carvalho LML, Pinto CF, Scliar M de O, Otto PA, Krepischi ACV, Rosenberg C. SCAF4-related syndromic intellectual disability [Internet]. American Journal of Medical Genetics. Part A. 2023 ; 191( 2): 570-574.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1002/ajmg.a.63032
Trabalho de evento-resumo
Fissuras raras da face e apêndices finger-like: desorganização em seres humanos (2022)
Serigatto, Henrique Regonaschi ; Virmond, Luiza do Amaral; Kokitsu-Nakata, Nancy Mizue ; Vendramini-Pittoli, Siulan ; Rosenberg, Carla ; Zechi-Ceide, Roseli Maria
Fonte: Anais. Nome do evento: Congresso Médico Acadêmico de Bauru da Universidade de São Paulo - COMAB. Unidades: HRAC, IB, HRACF
Assuntos: ANOMALIA FACIAL, TERATOLOGIA
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ABNT
SERIGATTO, Henrique Regonaschi et al. Fissuras raras da face e apêndices finger-like: desorganização em seres humanos. 2022, Anais.. Bauru: Faculdade de Odontologia de Bauru. Universidade de São Paulo, 2022. Disponível em: https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf. Acesso em: 04 jun. 2024.
APA
Serigatto, H. R., Virmond, L. do A., Kokitsu-Nakata, N. M., Vendramini-Pittoli, S., Rosenberg, C., & Zechi-Ceide, R. M. (2022). Fissuras raras da face e apêndices finger-like: desorganização em seres humanos. In Anais. Bauru: Faculdade de Odontologia de Bauru. Universidade de São Paulo. Recuperado de https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf
NLM
Serigatto HR, Virmond L do A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Zechi-Ceide RM. Fissuras raras da face e apêndices finger-like: desorganização em seres humanos [Internet]. Anais. 2022 ;[citado 2024 jun. 04 ] Available from: https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf
Vancouver
Serigatto HR, Virmond L do A, Kokitsu-Nakata NM, Vendramini-Pittoli S, Rosenberg C, Zechi-Ceide RM. Fissuras raras da face e apêndices finger-like: desorganização em seres humanos [Internet]. Anais. 2022 ;[citado 2024 jun. 04 ] Available from: https://repositorio.usp.br/directbitstream/934b4ccb-9ab6-47a1-b2b4-0066de69de1c/3139253.pdf
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
Fonte: Journal of Autism and Developmental Disorders. Unidades: IB, FM
Assuntos: 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: 04 jun. 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 jun. 04 ] 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 jun. 04 ] 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
Fonte: Scientific Reports. Unidade: IB
Assuntos: 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: 04 jun. 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 jun. 04 ] 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 jun. 04 ] Available from: https://doi.org/10.1038/s41598-022-19274-6
Artigo de periodico
Genetic investigation of syndromic forms of obesity (2022)
Carvalho, Laura Machado Lara ; D’Angelo, John ; Villela, Darine ; Costa, Silvia Souza da; Jorge, Alexander Augusto de Lima ; Silva, Israel Tojal da; Scliar, Marília de Oliveira; Chaves, Luiza Dias; Krepischi, Ana Cristina Victorino ; Koiffmann, Celia Priszkulnik ; Rosenberg, Carla
Fonte: International Journal of Obesity. Unidades: IB, FM
Assuntos: OBESIDADE, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CARVALHO, Laura Machado Lara et al. Genetic investigation of syndromic forms of obesity. International Journal of Obesity, v. 46, p. 1582–1586, 2022Tradução . . Disponível em: https://doi.org/10.1038/s41366-022-01149-5. Acesso em: 04 jun. 2024.
APA
Carvalho, L. M. L., D’Angelo, J., Villela, D., Costa, S. S. da, Jorge, A. A. de L., Silva, I. T. da, et al. (2022). Genetic investigation of syndromic forms of obesity. International Journal of Obesity, 46, 1582–1586. doi:10.1038/s41366-022-01149-5
NLM
Carvalho LML, D’Angelo J, Villela D, Costa SS da, Jorge AA de L, Silva IT da, Scliar M de O, Chaves LD, Krepischi ACV, Koiffmann CP, Rosenberg C. Genetic investigation of syndromic forms of obesity [Internet]. International Journal of Obesity. 2022 ; 46 1582–1586.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1038/s41366-022-01149-5
Vancouver
Carvalho LML, D’Angelo J, Villela D, Costa SS da, Jorge AA de L, Silva IT da, Scliar M de O, Chaves LD, Krepischi ACV, Koiffmann CP, Rosenberg C. Genetic investigation of syndromic forms of obesity [Internet]. International Journal of Obesity. 2022 ; 46 1582–1586.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1038/s41366-022-01149-5
Artigo de periodico
DNA methylation as a key epigenetic player for hepatoblastoma characterization (2021)
Rivas, Maria; Aguiar, Talita; Fernandes, Gustavo; Lemes, Renan ; Caires-Júnior, Luiz ; Goulart, Ernesto ; Telles-Silva, Kayque; Maschietto, Mariana; Cypriano, Monica ; Toledo, Silvia de; Carraro, Dirce; Cunha, Isabela da; Costa, Cecilia da; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino
Fonte: Clinics and Research in Hepatology and Gastroenterology. Unidades: IB, IQ
Assuntos: METILAÇÃO DE DNA, EXPRESSÃO GÊNICA, NEOPLASIAS HEPÁTICAS, EPIGÊNESE GENÉTICA, CARCINOGÊNESE, CRIANÇAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
RIVAS, Maria et al. DNA methylation as a key epigenetic player for hepatoblastoma characterization. Clinics and Research in Hepatology and Gastroenterology, v. 45, n. 3, 2021Tradução . . Disponível em: https://doi.org/10.1016/j.clinre.2021.101684. Acesso em: 04 jun. 2024.
APA
Rivas, M., Aguiar, T., Fernandes, G., Lemes, R., Caires-Júnior, L., Goulart, E., et al. (2021). DNA methylation as a key epigenetic player for hepatoblastoma characterization. Clinics and Research in Hepatology and Gastroenterology, 45( 3). doi:10.1016/j.clinre.2021.101684
NLM
Rivas M, Aguiar T, Fernandes G, Lemes R, Caires-Júnior L, Goulart E, Telles-Silva K, Maschietto M, Cypriano M, Toledo S de, Carraro D, Cunha I da, Costa C da, Rosenberg C, Krepischi ACV. DNA methylation as a key epigenetic player for hepatoblastoma characterization [Internet]. Clinics and Research in Hepatology and Gastroenterology. 2021 ; 45( 3):[citado 2024 jun. 04 ] Available from: https://doi.org/10.1016/j.clinre.2021.101684
Vancouver
Rivas M, Aguiar T, Fernandes G, Lemes R, Caires-Júnior L, Goulart E, Telles-Silva K, Maschietto M, Cypriano M, Toledo S de, Carraro D, Cunha I da, Costa C da, Rosenberg C, Krepischi ACV. DNA methylation as a key epigenetic player for hepatoblastoma characterization [Internet]. Clinics and Research in Hepatology and Gastroenterology. 2021 ; 45( 3):[citado 2024 jun. 04 ] Available from: https://doi.org/10.1016/j.clinre.2021.101684
Artigo de periodico
Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses (2021)
Villela, Darine ; Mazzonetto, Patricia C; Migliavacca, Michele P; Perrone, Eduardo; Guida, Gustavo; Milanezi, Maria Fernanda G; Jorge, Alexander A. L ; Ribeiro-Bicudo, Lucilene A ; Kok, Fernando ; Campagnari, Francine; Rosso-Giuliani, Liane de; Costa, Silvia Souza da; Vianna-Morgante, Angela M ; Pearson, Peter L; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla
Fonte: American Journal of Medical Genetics. Part A. Unidades: FM, IB
Assuntos: DOENÇAS GENÉTICAS, DOENÇAS CONGÊNITAS, ANORMALIDADES CROMOSSÔMICAS, TRANSTORNO AUTÍSTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
VILLELA, Darine et al. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American Journal of Medical Genetics. Part A, v. 185, n. 8, p. 2335-2344, 2021Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.62237. Acesso em: 04 jun. 2024.
APA
Villela, D., Mazzonetto, P. C., Migliavacca, M. P., Perrone, E., Guida, G., Milanezi, M. F. G., et al. (2021). Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses. American Journal of Medical Genetics. Part A, 185( 8), 2335-2344. doi:10.1002/ajmg.a.62237
NLM
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, Rosso-Giuliani L de, Costa SS da, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses [Internet]. American Journal of Medical Genetics. Part A. 2021 ; 185( 8): 2335-2344.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1002/ajmg.a.62237
Vancouver
Villela D, Mazzonetto PC, Migliavacca MP, Perrone E, Guida G, Milanezi MFG, Jorge AAL, Ribeiro-Bicudo LA, Kok F, Campagnari F, Rosso-Giuliani L de, Costa SS da, Vianna-Morgante AM, Pearson PL, Krepischi ACV, Rosenberg C. Congenital chromoanagenesis in the routine postnatal chromosomal microarray analyses [Internet]. American Journal of Medical Genetics. Part A. 2021 ; 185( 8): 2335-2344.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1002/ajmg.a.62237
Artigo de periodico
Insights from the genetic characterization of central precocious puberty associated with multiple anomalies (2021)
Canton, Ana Pinheiro Machado ; Krepischi, Ana Cristina Victorino ; Montenegro, Luciana Ribeiro; Costa, Silvia; Rosenberg, Carla ; Steunou, Virginie; Sobrier, Marie-Laure; Santana, Lucas ; Honjo, Rachel Sayuri ; Kim, Chong Ae ; Francis de Zegher; Idkowiak, Jan; Gilligan, Lorna C; Arlt, Wiebke; Funari, Mariana Ferreira de Assis ; Jorge, Alexander Augusto de Lima ; Mendonca, Berenice Bilharinho de ; Netchine, Irène; Brito, Vinicius Nahime ; Latronico, Ana Claudia
Fonte: Human Reproduction. Unidades: IB, FM
Assuntos: PUBERDADE PRECOCE, GENÉTICA, DOENÇAS GENÉTICAS, ANORMALIDADES CROMOSSÔMICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CANTON, Ana Pinheiro Machado et al. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Human Reproduction, v. 36, n. 2, p. 506-518, 2021Tradução . . Disponível em: https://doi.org/10.1093/humrep/deaa306. Acesso em: 04 jun. 2024.
APA
Canton, A. P. M., Krepischi, A. C. V., Montenegro, L. R., Costa, S., Rosenberg, C., Steunou, V., et al. (2021). Insights from the genetic characterization of central precocious puberty associated with multiple anomalies. Human Reproduction, 36( 2), 506-518. doi:10.1093/humrep/deaa306
NLM
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier M-L, Santana L, Honjo RS, Kim CA, Francis de Zegher, Idkowiak J, Gilligan LC, Arlt W, Funari MF de A, Jorge AA de L, Mendonca BB de, Netchine I, Brito VN, Latronico AC. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies [Internet]. Human Reproduction. 2021 ; 36( 2): 506-518.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1093/humrep/deaa306
Vancouver
Canton APM, Krepischi ACV, Montenegro LR, Costa S, Rosenberg C, Steunou V, Sobrier M-L, Santana L, Honjo RS, Kim CA, Francis de Zegher, Idkowiak J, Gilligan LC, Arlt W, Funari MF de A, Jorge AA de L, Mendonca BB de, Netchine I, Brito VN, Latronico AC. Insights from the genetic characterization of central precocious puberty associated with multiple anomalies [Internet]. Human Reproduction. 2021 ; 36( 2): 506-518.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1093/humrep/deaa306
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
Fonte: Annals of human genetics. Unidade: IB
Assuntos: GENOMAS, ANORMALIDADES CROMOSSÔMICAS, SEQUÊNCIA DO DNA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
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: 04 jun. 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 jun. 04 ] 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 jun. 04 ] Available from: https://doi.org/10.1111/ahg.12402
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
Fonte: Clinical Genetics. Unidades: IB, FM
Assuntos: 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: 04 jun. 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 jun. 04 ] 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 jun. 04 ] Available from: https://doi.org/10.1111/cge.14041
Artigo de periodico
Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways (2021)
Barros, Juliana Sobral; Aguiar, Talita Ferreira Marques; Costa, Silvia Souza; Rivas, Maria Prates ; Cypriano, Monica; Toledo, Silvia Regina Caminada; Novak, Estela Maria ; Odone, Vicente; Cristofani, Lilian Maria; Carraro, Dirce Maria; Cunha, Isabela Werneck da; Costa, Cecília Maria Lima; Vianna-Morgante, Angela M ; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino
Fonte: Frontiers in Plant Science. Unidades: IB, FM
Assuntos: NEOPLASIAS HEPÁTICAS, GENÉTICA MÉDICA, CITOGENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
BARROS, Juliana Sobral et al. Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways. Frontiers in Plant Science, v. 11, 2021Tradução . . Disponível em: https://doi.org/10.3389/fonc.2021.741526. Acesso em: 04 jun. 2024.
APA
Barros, J. S., Aguiar, T. F. M., Costa, S. S., Rivas, M. P., Cypriano, M., Toledo, S. R. C., et al. (2021). Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways. Frontiers in Plant Science, 11. doi:10.3389/fonc.2021.741526
NLM
Barros JS, Aguiar TFM, Costa SS, Rivas MP, Cypriano M, Toledo SRC, Novak EM, Odone V, Cristofani LM, Carraro DM, Cunha IW da, Costa CML, Vianna-Morgante AM, Rosenberg C, Krepischi ACV. Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways [Internet]. Frontiers in Plant Science. 2021 ; 11[citado 2024 jun. 04 ] Available from: https://doi.org/10.3389/fonc.2021.741526
Vancouver
Barros JS, Aguiar TFM, Costa SS, Rivas MP, Cypriano M, Toledo SRC, Novak EM, Odone V, Cristofani LM, Carraro DM, Cunha IW da, Costa CML, Vianna-Morgante AM, Rosenberg C, Krepischi ACV. Copy number alterations in hepatoblastoma: literature review and a brazilian cohort analysis highlight new biological pathways [Internet]. Frontiers in Plant Science. 2021 ; 11[citado 2024 jun. 04 ] Available from: https://doi.org/10.3389/fonc.2021.741526
Artigo de periodico
Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder (2021)
Oliveira, Karina Griesi ; Fogo, Mariana Soares; Pinto, B. G. G; Alves, A. Y; Suzuki, A. M; Morales, A. G; Ezquina, Suzana ; Sosa, Omar Júlio ; Sutton, G. J; Franze, D. Y. Sunaga; Bueno, A. P; Seabra, G; Sardinha, L; Costa, S. S; Rosenberg, Carla ; Zachi, Elaine Cristina; Sertie, A. L; Souza, Daniel Martins de ; Reis, Eduardo Moraes ; Voineagu, I; Passos-Bueno, Maria Rita
Fonte: Molecular Psychiatry. Unidades: IB, IP, IQ
Assuntos: TRANSTORNO DO ESPECTRO AUTISTA, GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
OLIVEIRA, Karina Griesi et al. Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder. Molecular Psychiatry, v. 26, p. 1589–1605, 2021Tradução . . Disponível em: https://doi.org/10.1038/s41380-020-0669-9. Acesso em: 04 jun. 2024.
APA
Oliveira, K. G., Fogo, M. S., Pinto, B. G. G., Alves, A. Y., Suzuki, A. M., Morales, A. G., et al. (2021). Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder. Molecular Psychiatry, 26, 1589–1605. doi:10.1038/s41380-020-0669-9
NLM
Oliveira KG, Fogo MS, Pinto BGG, Alves AY, Suzuki AM, Morales AG, Ezquina S, Sosa OJ, Sutton GJ, Franze DYS, Bueno AP, Seabra G, Sardinha L, Costa SS, Rosenberg C, Zachi EC, Sertie AL, Souza DM de, Reis EM, Voineagu I, Passos-Bueno MR. Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder [Internet]. Molecular Psychiatry. 2021 ; 26 1589–1605.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1038/s41380-020-0669-9
Vancouver
Oliveira KG, Fogo MS, Pinto BGG, Alves AY, Suzuki AM, Morales AG, Ezquina S, Sosa OJ, Sutton GJ, Franze DYS, Bueno AP, Seabra G, Sardinha L, Costa SS, Rosenberg C, Zachi EC, Sertie AL, Souza DM de, Reis EM, Voineagu I, Passos-Bueno MR. Transcriptome of iPSC-derived neuronal cells reveals a module of co-expressed genes consistently associated with autism spectrum disorder [Internet]. Molecular Psychiatry. 2021 ; 26 1589–1605.[citado 2024 jun. 04 ] Available from: https://doi.org/10.1038/s41380-020-0669-9
Artigo de periodico
A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review (2021)
Carvalho, Laura M. L; D’Angelo, Carla S; Mustacchi, Zan; Silva, Israel T. da; Krepischi, Ana Cristina Victorino ; Koiffmann, Celia Priszkulnik ; Rosenberg, Carla
Fonte: Obesity Research & Clinical Practice. Unidade: IB
Assuntos: GENÉTICA MÉDICA, OBESIDADE, RETARDO MENTAL, MUTAÇÃO GENÉTICA
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CARVALHO, Laura M. L et al. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review. Obesity Research & Clinical Practice, v. 15, n. 2, p. Mar./Apr. 124-132, 2021Tradução . . Disponível em: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf. Acesso em: 04 jun. 2024.
APA
Carvalho, L. M. L., D’Angelo, C. S., Mustacchi, Z., Silva, I. T. da, Krepischi, A. C. V., Koiffmann, C. P., & Rosenberg, C. (2021). A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review. Obesity Research & Clinical Practice, 15( 2), Mar./Apr. 124-132. Recuperado de https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf
NLM
Carvalho LML, D’Angelo CS, Mustacchi Z, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review [Internet]. Obesity Research & Clinical Practice. 2021 ; 15( 2): Mar./Apr. 124-132.[citado 2024 jun. 04 ] Available from: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf
Vancouver
Carvalho LML, D’Angelo CS, Mustacchi Z, Silva IT da, Krepischi ACV, Koiffmann CP, Rosenberg C. A novel MYT1L mutation in a boy with syndromic obesity: case report and literature review [Internet]. Obesity Research & Clinical Practice. 2021 ; 15( 2): Mar./Apr. 124-132.[citado 2024 jun. 04 ] Available from: https://repositorio.usp.br/directbitstream/f6be3e9e-1818-4818-a78a-1cb6fdf4e906/3037393.pdf

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