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Artigo de periodico
Clinical and molecular characterization of Xia–Gibbs syndrome: expanding the phenotypic spectrum in a brazilian cohort (2025)
Sennes, Maísa Ganz Sanchez ; Carvalho, Laura Machado Lara ; Castro, Matheus Augusto Araújo ; Toccoli, Giovana Manilli; Farias, Sofia de Oliveira ; Fialho, Davi Mendes Campo ; Athayde, Larissa Sampaio de; Melaragno, Maria Isabel ; Spolador, Gustavo Marquezani; Otto, Paulo A ; Piai, Caroline Brandão; Kok, Fernando ; Rosenberg, Carla ; Bertola, Débora Romeo ; Kim, Chong Ae ; Krepischi, Ana Cristina Victorino
Source: Clinical Genetics. Unidades: IB, FM, ESALQ
Subjects: DOENÇAS GENÉTICAS, FENÓTIPOS, MICROBIOLOGIA
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ABNT
SENNES, Maísa Ganz Sanchez et al. Clinical and molecular characterization of Xia–Gibbs syndrome: expanding the phenotypic spectrum in a brazilian cohort. Clinical Genetics, v. 108, n. 6, p. 654-663, 2025Tradução . . Disponível em: https://doi.org/10.1111/cge.14777. Acesso em: 27 nov. 2025.
APA
Sennes, M. G. S., Carvalho, L. M. L., Castro, M. A. A., Toccoli, G. M., Farias, S. de O., Fialho, D. M. C., et al. (2025). Clinical and molecular characterization of Xia–Gibbs syndrome: expanding the phenotypic spectrum in a brazilian cohort. Clinical Genetics, 108( 6), 654-663. doi:10.1111/cge.14777
NLM
Sennes MGS, Carvalho LML, Castro MAA, Toccoli GM, Farias S de O, Fialho DMC, Athayde LS de, Melaragno MI, Spolador GM, Otto PA, Piai CB, Kok F, Rosenberg C, Bertola DR, Kim CA, Krepischi ACV. Clinical and molecular characterization of Xia–Gibbs syndrome: expanding the phenotypic spectrum in a brazilian cohort [Internet]. Clinical Genetics. 2025 ; 108( 6): 654-663.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1111/cge.14777
Vancouver
Sennes MGS, Carvalho LML, Castro MAA, Toccoli GM, Farias S de O, Fialho DMC, Athayde LS de, Melaragno MI, Spolador GM, Otto PA, Piai CB, Kok F, Rosenberg C, Bertola DR, Kim CA, Krepischi ACV. Clinical and molecular characterization of Xia–Gibbs syndrome: expanding the phenotypic spectrum in a brazilian cohort [Internet]. Clinical Genetics. 2025 ; 108( 6): 654-663.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1111/cge.14777
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, Interunidades em 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: 27 nov. 2025.
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 2025 nov. 27 ] 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 2025 nov. 27 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
Artigo de periodico
Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants (2024)
Torres, William Bertani ; Lezirovitz, Karina ; Coutinho, Danillo Alencar ; Pardono, Eliete; Costa, Silvia Souza da; Antunes, Larissa do Nascimento; Oliveira, Judite de; Otto, Paulo A ; Pingault, Véronique ; Mingroni Netto, Regina Celia
Source: Audiology Research. Unidade: IB
Subjects: PERDA AUDITIVA, SURDEZ, GENÉTICA MOLECULAR, MUTAÇÃO GENÉTICA, PIGMENTOS
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ABNT
TORRES, William Bertani et al. Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants. Audiology Research, v. 14, n. 1, p. 9-25, 2024Tradução . . Disponível em: https://doi.org/10.3390/audiolres14010002. Acesso em: 27 nov. 2025.
APA
Torres, W. B., Lezirovitz, K., Coutinho, D. A., Pardono, E., Costa, S. S. da, Antunes, L. do N., et al. (2024). Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants. Audiology Research, 14( 1), 9-25. doi:10.3390/audiolres14010002
NLM
Torres WB, Lezirovitz K, Coutinho DA, Pardono E, Costa SS da, Antunes L do N, Oliveira J de, Otto PA, Pingault V, Mingroni Netto RC. Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants [Internet]. Audiology Research. 2024 ; 14( 1): 9-25.[citado 2025 nov. 27 ] Available from: https://doi.org/10.3390/audiolres14010002
Vancouver
Torres WB, Lezirovitz K, Coutinho DA, Pardono E, Costa SS da, Antunes L do N, Oliveira J de, Otto PA, Pingault V, Mingroni Netto RC. Waardenburg syndrome: the contribution of next-generation sequencing to the identification of novel causative variants [Internet]. Audiology Research. 2024 ; 14( 1): 9-25.[citado 2025 nov. 27 ] Available from: https://doi.org/10.3390/audiolres14010002
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
Source: American Journal of Medical Genetics. Part A. Unidade: IB
Subjects: 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: 27 nov. 2025.
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 2025 nov. 27 ] 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 2025 nov. 27 ] Available from: https://doi.org/10.1002/ajmg.a.63032
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: 27 nov. 2025.
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 2025 nov. 27 ] 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 2025 nov. 27 ] Available from: https://doi.org/10.1007/s12035-023-03311-0
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: 27 nov. 2025.
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 2025 nov. 27 ] 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 2025 nov. 27 ] Available from: https://doi.org/10.1002/humu.24375
Artigo de periodico
Evolution of sex-ratio: brief review with mathematical study of some simple novel models (2021)
Otto, Paulo A
Source: Genetics and Molecular Biology. Unidade: IB
Subjects: GENÉTICA, GENÉTICA DE POPULAÇÕES
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ABNT
OTTO, Paulo A. Evolution of sex-ratio: brief review with mathematical study of some simple novel models. Genetics and Molecular Biology, v. 44, n. 3, 2021Tradução . . Disponível em: https://doi.org/10.1590/1678-4685-GMB-2021-0053. Acesso em: 27 nov. 2025.
APA
Otto, P. A. (2021). Evolution of sex-ratio: brief review with mathematical study of some simple novel models. Genetics and Molecular Biology, 44( 3). doi:10.1590/1678-4685-GMB-2021-0053
NLM
Otto PA. Evolution of sex-ratio: brief review with mathematical study of some simple novel models [Internet]. Genetics and Molecular Biology. 2021 ; 44( 3):[citado 2025 nov. 27 ] Available from: https://doi.org/10.1590/1678-4685-GMB-2021-0053
Vancouver
Otto PA. Evolution of sex-ratio: brief review with mathematical study of some simple novel models [Internet]. Genetics and Molecular Biology. 2021 ; 44( 3):[citado 2025 nov. 27 ] Available from: https://doi.org/10.1590/1678-4685-GMB-2021-0053
Artigo de periodico
Men are the main COVID-19 transmitters: lessons from couples (2021)
Silva, Monize V. R ; Castro, Mateus V. de ; Passos-Bueno, Maria Rita ; Otto, Paulo A ; Naslavsky, Michel ; Zatz, Mayana
Source: medRxiv (The Preprint Server For Health Sciences). Unidades: IB, FCF
Subjects: COVID-19, CORONAVIRUS, INFECÇÕES POR CORONAVIRUS, TRANSMISSÃO DE DOENÇAS
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ABNT
SILVA, Monize V. R et al. Men are the main COVID-19 transmitters: lessons from couples. medRxiv (The Preprint Server For Health Sciences), 2021Tradução . . Disponível em: https://doi.org/10.1101/2021.08.18.21262187. Acesso em: 27 nov. 2025.
APA
Silva, M. V. R., Castro, M. V. de, Passos-Bueno, M. R., Otto, P. A., Naslavsky, M., & Zatz, M. (2021). Men are the main COVID-19 transmitters: lessons from couples. medRxiv (The Preprint Server For Health Sciences). doi:10.1101/2021.08.18.21262187
NLM
Silva MVR, Castro MV de, Passos-Bueno MR, Otto PA, Naslavsky M, Zatz M. Men are the main COVID-19 transmitters: lessons from couples [Internet]. medRxiv (The Preprint Server For Health Sciences). 2021 ;[citado 2025 nov. 27 ] Available from: https://doi.org/10.1101/2021.08.18.21262187
Vancouver
Silva MVR, Castro MV de, Passos-Bueno MR, Otto PA, Naslavsky M, Zatz M. Men are the main COVID-19 transmitters: lessons from couples [Internet]. medRxiv (The Preprint Server For Health Sciences). 2021 ;[citado 2025 nov. 27 ] Available from: https://doi.org/10.1101/2021.08.18.21262187
Artigo de periodico
The structure of frst‐cousin marriages in Brazil (2020)
Otto, Paulo A ; Lemes, Renan B; Farias, Allysson A; Weller, Mathias; Lima, Shirley O. A; Albino, Victor Alves; Marques-Alves, Yanna K; Pardono, Eliete; Bocangel, Magnolia A. P; Santos, Silvana
Source: Scientific Reports. Unidade: IB
Subjects: GENÉTICA MÉDICA, HERANÇA GENÉTICA, CASAMENTO, PRIMOS
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ABNT
OTTO, Paulo A et al. The structure of frst‐cousin marriages in Brazil. Scientific Reports, v. 10, 2020Tradução . . Disponível em: https://doi.org/10.1038/s41598-020-72366-z. Acesso em: 27 nov. 2025.
APA
Otto, P. A., Lemes, R. B., Farias, A. A., Weller, M., Lima, S. O. A., Albino, V. A., et al. (2020). The structure of frst‐cousin marriages in Brazil. Scientific Reports, 10. doi:10.1038/s41598-020-72366-z
NLM
Otto PA, Lemes RB, Farias AA, Weller M, Lima SOA, Albino VA, Marques-Alves YK, Pardono E, Bocangel MAP, Santos S. The structure of frst‐cousin marriages in Brazil [Internet]. Scientific Reports. 2020 ; 10[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/s41598-020-72366-z
Vancouver
Otto PA, Lemes RB, Farias AA, Weller M, Lima SOA, Albino VA, Marques-Alves YK, Pardono E, Bocangel MAP, Santos S. The structure of frst‐cousin marriages in Brazil [Internet]. Scientific Reports. 2020 ; 10[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/s41598-020-72366-z
Artigo de periodico
HW_TEST, a program for comprehensive HARDY-WEINBERG equilibrium testing (2020)
Santos, Fernando Azenha Bautzer; Lemes, Renan Barbosa ; Otto, Paulo A
Source: Genetics and Molecular Biology. Unidade: IB
Subjects: SOFTWARES, INFERÊNCIA NÃO PARAMÉTRICA, TESTES DE HIPÓTESES
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ABNT
SANTOS, Fernando Azenha Bautzer e LEMES, Renan Barbosa e OTTO, Paulo A. HW_TEST, a program for comprehensive HARDY-WEINBERG equilibrium testing. Genetics and Molecular Biology, v. 43, n. 2, 2020Tradução . . Disponível em: https://doi.org/10.1590/1678-4685-gmb-2019-0380. Acesso em: 27 nov. 2025.
APA
Santos, F. A. B., Lemes, R. B., & Otto, P. A. (2020). HW_TEST, a program for comprehensive HARDY-WEINBERG equilibrium testing. Genetics and Molecular Biology, 43( 2). doi:10.1590/1678-4685-gmb-2019-0380
NLM
Santos FAB, Lemes RB, Otto PA. HW_TEST, a program for comprehensive HARDY-WEINBERG equilibrium testing [Internet]. Genetics and Molecular Biology. 2020 ; 43( 2):[citado 2025 nov. 27 ] Available from: https://doi.org/10.1590/1678-4685-gmb-2019-0380
Vancouver
Santos FAB, Lemes RB, Otto PA. HW_TEST, a program for comprehensive HARDY-WEINBERG equilibrium testing [Internet]. Genetics and Molecular Biology. 2020 ; 43( 2):[citado 2025 nov. 27 ] Available from: https://doi.org/10.1590/1678-4685-gmb-2019-0380
Artigo de periodico
Haploid selection drives new gene male germline expression (2019)
Raices, Julia B; Otto, Paulo A ; Vibranovski, Maria
Source: Genome Research. Unidade: IB
Subjects: GENÉTICA DE POPULAÇÕES, EXPRESSÃO GÊNICA, MUTAÇÃO GENÉTICA, GAMETOGÊNESE, ESPERMATOGÊNESE
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ABNT
RAICES, Julia B e OTTO, Paulo A e VIBRANOVSKI, Maria. Haploid selection drives new gene male germline expression. Genome Research, v. 29, p. 1115-1122, 2019Tradução . . Disponível em: https://doi.org/10.1101/gr.238824.118. Acesso em: 27 nov. 2025.
APA
Raices, J. B., Otto, P. A., & Vibranovski, M. (2019). Haploid selection drives new gene male germline expression. Genome Research, 29, 1115-1122. doi:10.1101/gr.238824.118
NLM
Raices JB, Otto PA, Vibranovski M. Haploid selection drives new gene male germline expression [Internet]. Genome Research. 2019 ; 29 1115-1122.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1101/gr.238824.118
Vancouver
Raices JB, Otto PA, Vibranovski M. Haploid selection drives new gene male germline expression [Internet]. Genome Research. 2019 ; 29 1115-1122.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1101/gr.238824.118
Artigo de periodico
Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability (2019)
Oliveira, Juliana Ferreira de; Prado, Paula Favoretti Vital do; Costa, Silvia Souza da; Sforça, Maurício Luis; Canateli, Camila; Ranzani, Americo Tavares; Maschietto, Mariana; Oliveira, Paulo Sérgio Lopes de; Otto, Paulo A ; Klevit, Rachel E; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla ; Franchini, Kleber Gomes
Source: Nature Chemical Biology. Unidade: IB
Subjects: GENÉTICA MÉDICA, BIOLOGIA MOLECULAR, MUTAÇÃO GENÉTICA, PESSOAS COM DEFICIÊNCIA INTELECTUAL
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ABNT
OLIVEIRA, Juliana Ferreira de et al. Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. Nature Chemical Biology, v. 15, n. Ja 2019, p. 62-70, 2019Tradução . . Disponível em: https://doi.org/10.1038/s41589-018-0177-2. Acesso em: 27 nov. 2025.
APA
Oliveira, J. F. de, Prado, P. F. V. do, Costa, S. S. da, Sforça, M. L., Canateli, C., Ranzani, A. T., et al. (2019). Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability. Nature Chemical Biology, 15( Ja 2019), 62-70. doi:10.1038/s41589-018-0177-2
NLM
Oliveira JF de, Prado PFV do, Costa SS da, Sforça ML, Canateli C, Ranzani AT, Maschietto M, Oliveira PSL de, Otto PA, Klevit RE, Krepischi ACV, Rosenberg C, Franchini KG. Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability [Internet]. Nature Chemical Biology. 2019 ; 15( Ja 2019): 62-70.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/s41589-018-0177-2
Vancouver
Oliveira JF de, Prado PFV do, Costa SS da, Sforça ML, Canateli C, Ranzani AT, Maschietto M, Oliveira PSL de, Otto PA, Klevit RE, Krepischi ACV, Rosenberg C, Franchini KG. Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability [Internet]. Nature Chemical Biology. 2019 ; 15( Ja 2019): 62-70.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1038/s41589-018-0177-2
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
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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: 27 nov. 2025.
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 2025 nov. 27 ] 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 2025 nov. 27 ] Available from: https://doi.org/10.1038/hgv.2018.10
Artigo de periodico
Waardenburg syndrome: novel mutations in a large Brazilian (2018)
Bocángel, Magnolia Astrid Pretell; Melo, Uirá Souto; Alves, Leandro Ucela; Pardono, Eliete; Lourenço, Naila Cristina Vilaça; Marcolino, Humberto Vicente Cezar; Otto, Paulo A ; Mingroni Netto, Regina Celia
Source: European Journal of Medical Genetics. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, MUTAÇÃO GENÉTICA, GENÉTICA MOLECULAR, GENES
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ABNT
BOCÁNGEL, Magnolia Astrid Pretell et al. Waardenburg syndrome: novel mutations in a large Brazilian. European Journal of Medical Genetics, p. 1-7, 2018Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2018.01.012. Acesso em: 27 nov. 2025.
APA
Bocángel, M. A. P., Melo, U. S., Alves, L. U., Pardono, E., Lourenço, N. C. V., Marcolino, H. V. C., et al. (2018). Waardenburg syndrome: novel mutations in a large Brazilian. European Journal of Medical Genetics, 1-7. doi:10.1016/j.ejmg.2018.01.012
NLM
Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni Netto RC. Waardenburg syndrome: novel mutations in a large Brazilian [Internet]. European Journal of Medical Genetics. 2018 ; 1-7.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.ejmg.2018.01.012
Vancouver
Bocángel MAP, Melo US, Alves LU, Pardono E, Lourenço NCV, Marcolino HVC, Otto PA, Mingroni Netto RC. Waardenburg syndrome: novel mutations in a large Brazilian [Internet]. European Journal of Medical Genetics. 2018 ; 1-7.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.ejmg.2018.01.012
Artigo de periodico
Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion (2018)
Santos, Alexsandro dos; Campagnari, Francine; Krepischi, Ana Cristina Victorino ; Câmara, Maria de Lourdes Ribeiro; Brasil, Rita de Cássia E. de Arruda; Vieira, Ligia; Vianna-Morgante, Angela M ; Otto, Paulo A ; Pearson, Peter L; Rosenberg, Carla
Source: Chromosome Research. Unidade: IB
Subjects: TELÔMERO, ANORMALIDADES CROMOSSÔMICAS, DOENÇAS GENÉTICAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SANTOS, Alexsandro dos et al. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. Chromosome Research, v. 26, p. 191-198, 2018Tradução . . Disponível em: https://doi.org/10.1007/s10577-018-9578-z. Acesso em: 27 nov. 2025.
APA
Santos, A. dos, Campagnari, F., Krepischi, A. C. V., Câmara, M. de L. R., Brasil, R. de C. E. de A., Vieira, L., et al. (2018). Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion. Chromosome Research, 26, 191-198. doi:10.1007/s10577-018-9578-z
NLM
Santos A dos, Campagnari F, Krepischi ACV, Câmara M de LR, Brasil R de CE de A, Vieira L, Vianna-Morgante AM, Otto PA, Pearson PL, Rosenberg C. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion [Internet]. Chromosome Research. 2018 ; 26 191-198.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1007/s10577-018-9578-z
Vancouver
Santos A dos, Campagnari F, Krepischi ACV, Câmara M de LR, Brasil R de CE de A, Vieira L, Vianna-Morgante AM, Otto PA, Pearson PL, Rosenberg C. Insight into the mechanisms and consequences of recurrent telomere capture associated with a sub-telomeric deletion [Internet]. Chromosome Research. 2018 ; 26 191-198.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1007/s10577-018-9578-z
Artigo de periodico
Inbreeding estimates in human populations: applying new approaches to an admixed Brazilian isolate (2018)
Lemes, Renan B; Nunes, Kelly; Carnavalli, Juliana E. P; Kimura, Lilian; Mingroni Netto, Regina Celia ; Meyer, Diogo ; Otto, Paulo A
Source: PLOS ONE. Unidade: IB
Subjects: GENÉTICA DE POPULAÇÕES, MARCADOR MOLECULAR, GENÉTICA MÉDICA, QUILOMBOS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
LEMES, Renan B et al. Inbreeding estimates in human populations: applying new approaches to an admixed Brazilian isolate. PLOS ONE, v. 13, n. 4, 2018Tradução . . Disponível em: https://doi.org/10.1371/journal.pone.0196360. Acesso em: 27 nov. 2025.
APA
Lemes, R. B., Nunes, K., Carnavalli, J. E. P., Kimura, L., Mingroni Netto, R. C., Meyer, D., & Otto, P. A. (2018). Inbreeding estimates in human populations: applying new approaches to an admixed Brazilian isolate. PLOS ONE, 13( 4). doi:10.1371/journal.pone.0196360
NLM
Lemes RB, Nunes K, Carnavalli JEP, Kimura L, Mingroni Netto RC, Meyer D, Otto PA. Inbreeding estimates in human populations: applying new approaches to an admixed Brazilian isolate [Internet]. PLOS ONE. 2018 ; 13( 4):[citado 2025 nov. 27 ] Available from: https://doi.org/10.1371/journal.pone.0196360
Vancouver
Lemes RB, Nunes K, Carnavalli JEP, Kimura L, Mingroni Netto RC, Meyer D, Otto PA. Inbreeding estimates in human populations: applying new approaches to an admixed Brazilian isolate [Internet]. PLOS ONE. 2018 ; 13( 4):[citado 2025 nov. 27 ] Available from: https://doi.org/10.1371/journal.pone.0196360
Trabalho de evento-resumo periodico
High frequency of manifesting carriers in the recessive X-linked myotubular myopathy (2018)
Souza, L; Almeida, C; Silva, L; Pavanello, R; Gurgel-Gianneti, J; Zanoteli, E; Zatz, Mayana ; Otto, Paulo A ; Vainzof, Mariz
Source: Neuromuscular Disorders. Conference titles: International Congress of the World Muscle Society - WMS. Unidade: IB
Subjects: DOENÇAS GENÉTICAS, DOENÇAS RARAS, MUTAÇÃO GENÉTICA, DOENÇAS NEUROMUSCULARES, MIOPATIAS CONGÊNITAS ESTRUTURAIS, CROMOSSOMO X
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SOUZA, L et al. High frequency of manifesting carriers in the recessive X-linked myotubular myopathy. Neuromuscular Disorders. London: Instituto de Biociências, Universidade de São Paulo. Disponível em: https://doi.org/10.1016/j.nmd.2018.06.169. Acesso em: 27 nov. 2025. , 2018
APA
Souza, L., Almeida, C., Silva, L., Pavanello, R., Gurgel-Gianneti, J., Zanoteli, E., et al. (2018). High frequency of manifesting carriers in the recessive X-linked myotubular myopathy. Neuromuscular Disorders. London: Instituto de Biociências, Universidade de São Paulo. doi:10.1016/j.nmd.2018.06.169
NLM
Souza L, Almeida C, Silva L, Pavanello R, Gurgel-Gianneti J, Zanoteli E, Zatz M, Otto PA, Vainzof M. High frequency of manifesting carriers in the recessive X-linked myotubular myopathy [Internet]. Neuromuscular Disorders. 2018 ; 28 S72.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2018.06.169
Vancouver
Souza L, Almeida C, Silva L, Pavanello R, Gurgel-Gianneti J, Zanoteli E, Zatz M, Otto PA, Vainzof M. High frequency of manifesting carriers in the recessive X-linked myotubular myopathy [Internet]. Neuromuscular Disorders. 2018 ; 28 S72.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1016/j.nmd.2018.06.169
Artigo de periodico
Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity (2018)
D’Angelo, Carla Sustek; Varela, Monica Castro; Castro, Cláudia Irene Emílio de; Otto, Paulo A ; Perez, Ana Beatriz Alvarez; Lourenço, Charles Marques; Kim, Chong Ae; Bertola, Débora Romeo; Kok, Fernando; Garcia-Alonso, Luis; Koiffmann, Celia Priszkulnik
Source: Molecular Cytogenetics. Unidades: IB, FM
Subjects: OBESIDADE, FENÓTIPOS, DOENÇAS GENÉTICAS, ANORMALIDADES CROMOSSÔMICAS, RETARDO MENTAL, GENÉTICA MÉDICA, GENOMAS
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ABNT
D’ANGELO, Carla Sustek et al. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. Molecular Cytogenetics, v. 11, n. 14, p. 1-18, 2018Tradução . . Disponível em: https://doi.org/10.1186/s13039-018-0363-7. Acesso em: 27 nov. 2025.
APA
D’Angelo, C. S., Varela, M. C., Castro, C. I. E. de, Otto, P. A., Perez, A. B. A., Lourenço, C. M., et al. (2018). Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity. Molecular Cytogenetics, 11( 14), 1-18. doi:10.1186/s13039-018-0363-7
NLM
D’Angelo CS, Varela MC, Castro CIE de, Otto PA, Perez ABA, Lourenço CM, Kim CA, Bertola DR, Kok F, Garcia-Alonso L, Koiffmann CP. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity [Internet]. Molecular Cytogenetics. 2018 ; 11( 14): 1-18.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1186/s13039-018-0363-7
Vancouver
D’Angelo CS, Varela MC, Castro CIE de, Otto PA, Perez ABA, Lourenço CM, Kim CA, Bertola DR, Kok F, Garcia-Alonso L, Koiffmann CP. Chromosomal microarray analysis in the genetic evaluation of 279 patients with syndromic obesity [Internet]. Molecular Cytogenetics. 2018 ; 11( 14): 1-18.[citado 2025 nov. 27 ] Available from: https://doi.org/10.1186/s13039-018-0363-7
Artigo de periodico
Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases (2018)
Carneiro, Thaise NR; Krepischi, Ana Cristina Victorino ; Costa, Sílvia S; Silva, Israel Tojal da; Vianna-Morgante, Angela M ; Valieris, Renan; Ezquina, Suzana AM; Bertola, Débora R; Otto, Paulo A ; Rosenberg, Carla
Source: The Application of Clinical Genetics. Unidade: IB
Subjects: GENOMAS, SEQUENCIAMENTO GENÉTICO, DOENÇAS GENÉTICAS, DEFICIÊNCIA MENTAL, EXONS, DIAGNÓSTICO
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
CARNEIRO, Thaise NR et al. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. The Application of Clinical Genetics, v. 11, p. 93-98, 2018Tradução . . Disponível em: https://doi.org/10.2147/TACG.S165799. Acesso em: 27 nov. 2025.
APA
Carneiro, T. N. R., Krepischi, A. C. V., Costa, S. S., Silva, I. T. da, Vianna-Morgante, A. M., Valieris, R., et al. (2018). Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases. The Application of Clinical Genetics, 11, 93-98. doi:10.2147/TACG.S165799
NLM
Carneiro TNR, Krepischi ACV, Costa SS, Silva IT da, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases [Internet]. The Application of Clinical Genetics. 2018 ; 11 93-98.[citado 2025 nov. 27 ] Available from: https://doi.org/10.2147/TACG.S165799
Vancouver
Carneiro TNR, Krepischi ACV, Costa SS, Silva IT da, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C. Utility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases [Internet]. The Application of Clinical Genetics. 2018 ; 11 93-98.[citado 2025 nov. 27 ] Available from: https://doi.org/10.2147/TACG.S165799
Artigo de periodico
Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil (2017)
Otto, Paulo A ; Deguti, M M; Araújo, T. F; Barbosa, E R; Bem, R. S. D; Araujo, F C; Cançado, E. L. R
Source: Prensa Medica Argentina. Unidades: IB, FM
Subjects: GENÉTICA MÉDICA, GENÉTICA DE POPULAÇÕES, ERROS INATOS DO METABOLISMO, COBRE, MUTAÇÃO GENÉTICA, SINAIS E SINTOMAS, DOENÇAS DEGENERATIVAS
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
OTTO, Paulo A et al. Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil. Prensa Medica Argentina, v. 102, n. 5, p. 1-4, 2017Tradução . . Disponível em: https://doi.org/10.4172/lpma.1000226. Acesso em: 27 nov. 2025.
APA
Otto, P. A., Deguti, M. M., Araújo, T. F., Barbosa, E. R., Bem, R. S. D., Araujo, F. C., & Cançado, E. L. R. (2017). Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil. Prensa Medica Argentina, 102( 5), 1-4. doi:10.4172/lpma.1000226
NLM
Otto PA, Deguti MM, Araújo TF, Barbosa ER, Bem RSD, Araujo FC, Cançado ELR. Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil [Internet]. Prensa Medica Argentina. 2017 ; 102( 5): 1-4.[citado 2025 nov. 27 ] Available from: https://doi.org/10.4172/lpma.1000226
Vancouver
Otto PA, Deguti MM, Araújo TF, Barbosa ER, Bem RSD, Araujo FC, Cançado ELR. Estimation of Allele Frequencies and Population Incidence of Wilson Disease in Brazil [Internet]. Prensa Medica Argentina. 2017 ; 102( 5): 1-4.[citado 2025 nov. 27 ] Available from: https://doi.org/10.4172/lpma.1000226

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