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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 nov. 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 nov. 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 nov. 04 ] 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
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 nov. 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 nov. 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 nov. 04 ] Available from: https://doi.org/10.1007/s13679-023-00543-y
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
Fonte: Frontiers Aging. Unidades: IB, IQ
Assuntos: 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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] Available from: https://dx.doi.org/10.3389/fragi.2023.1296409
Tese (Doutorado)
Estudo genético de pacientes com síndrome de Rothmund-Thomson (2023)
Lazzaro Filho, Ricardo Di; Bertola, Débora Romeo (Orientador)
Unidade: IB
Assuntos: GENÉTICA MÉDICA, GENÉTICA, DNA, SEQUENCIAMENTO GENÉTICO
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ABNT
LAZZARO FILHO, Ricardo Di. Estudo genético de pacientes com síndrome de Rothmund-Thomson. 2023. Tese (Doutorado) – Universidade de São Paulo, São Paulo, 2023. Disponível em: https://www.teses.usp.br/teses/disponiveis/41/41131/tde-07122023-164841/. Acesso em: 04 nov. 2024.
APA
Lazzaro Filho, R. D. (2023). Estudo genético de pacientes com síndrome de Rothmund-Thomson (Tese (Doutorado). Universidade de São Paulo, São Paulo. Recuperado de https://www.teses.usp.br/teses/disponiveis/41/41131/tde-07122023-164841/
NLM
Lazzaro Filho RD. Estudo genético de pacientes com síndrome de Rothmund-Thomson [Internet]. 2023 ;[citado 2024 nov. 04 ] Available from: https://www.teses.usp.br/teses/disponiveis/41/41131/tde-07122023-164841/
Vancouver
Lazzaro Filho RD. Estudo genético de pacientes com síndrome de Rothmund-Thomson [Internet]. 2023 ;[citado 2024 nov. 04 ] Available from: https://www.teses.usp.br/teses/disponiveis/41/41131/tde-07122023-164841/
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
Fonte: Journal of Medical Genetics. Unidades: BIOINFORMÁTICA, FM, IB, IQ
Assuntos: 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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] 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
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 nov. 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 nov. 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 nov. 04 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
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 nov. 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 nov. 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 nov. 04 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
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
Fonte: Frontiers in Plant Science. Unidades: IB, IP
Assuntos: NEUROBIOLOGIA, GENÉTICA MÉDICA, DOENÇAS CEREBRAIS
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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: 04 nov. 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 nov. 04 ] 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 nov. 04 ] Available from: https://doi.org/10.3389/fncel.2021.803302
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
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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 nov. 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 nov. 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 nov. 04 ] Available from: https://doi.org/10.1111/cge.14041

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