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Artigo de periodico
Understanding rare variant contributions to autism: lessons from dystrophin-deficient model (2025)
Costa, Claudia Ismania Samogi ; Madanelo, Luciana; Wang, Jaqueline Yu Ting ; Campos, Gabriele da Silva ; Girardi, Ana Cristina De Sanctis ; Scliar, Marília; Monfardini, Frederico; Pavanello, Rita de Cássia Mingroni; Cória, Vivian Romanholi ; Vibranovski, Maria ; Krepischi, Ana Cristina Victorino ; Lourenço, Naila Cristina Vilaça ; Zatz, Mayana ; Yamamoto, Guilherme Lopes ; Zachi, Elaine Cristina ; Passos-Bueno, Maria Rita
Fonte: npj Genomic Medicine. Unidades: IB, Interunidades em Bioinformática, IP, FM
Assuntos: GENÉTICA MÉDICA, TRANSTORNO AUTÍSTICO, DISTROFIA MUSCULAR, VARIAÇÃO GENÉTICA
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ABNT
COSTA, Claudia Ismania Samogi et al. Understanding rare variant contributions to autism: lessons from dystrophin-deficient model. npj Genomic Medicine, v. 10, n. 18, 2025Tradução . . Disponível em: https://doi.org/10.1038/s41525-025-00469-5. Acesso em: 08 nov. 2025.
APA
Costa, C. I. S., Madanelo, L., Wang, J. Y. T., Campos, G. da S., Girardi, A. C. D. S., Scliar, M., et al. (2025). Understanding rare variant contributions to autism: lessons from dystrophin-deficient model. npj Genomic Medicine, 10( 18). doi:10.1038/s41525-025-00469-5
NLM
Costa CIS, Madanelo L, Wang JYT, Campos G da S, Girardi ACDS, Scliar M, Monfardini F, Pavanello R de CM, Cória VR, Vibranovski M, Krepischi ACV, Lourenço NCV, Zatz M, Yamamoto GL, Zachi EC, Passos-Bueno MR. Understanding rare variant contributions to autism: lessons from dystrophin-deficient model [Internet]. npj Genomic Medicine. 2025 ; 10( 18):[citado 2025 nov. 08 ] Available from: https://doi.org/10.1038/s41525-025-00469-5
Vancouver
Costa CIS, Madanelo L, Wang JYT, Campos G da S, Girardi ACDS, Scliar M, Monfardini F, Pavanello R de CM, Cória VR, Vibranovski M, Krepischi ACV, Lourenço NCV, Zatz M, Yamamoto GL, Zachi EC, Passos-Bueno MR. Understanding rare variant contributions to autism: lessons from dystrophin-deficient model [Internet]. npj Genomic Medicine. 2025 ; 10( 18):[citado 2025 nov. 08 ] Available from: https://doi.org/10.1038/s41525-025-00469-5
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, Interunidades em 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: 08 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. 08 ] 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. 08 ] Available from: https://doi.org/10.1007/s12035-023-03894-8
Artigo de periodico
Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries (2024)
Mazzonetto, Patricia Camacho ; Villela, Darine ; Krepischi, Ana Cristina Victorino ; Pierry, Paulo Marques ; Bonaldi, Adriano; Almeida, Luiz Gustavo Dufner de ; Paula, Marcelo Gomes de ; Bürger, Matheus Carvalho ; Oliveira, Ana Gabriela de; Fonseca, Gustavo G. G; Giugliani, Roberto ; Riegel-Giugliani, Mariluce ; Bertola, Débora Romeo ; Yamamoto, Guilherme Lopes ; Passos-Bueno, Maria Rita ; Campos, Gabriele da Silva ; Machado, Ana Claudia Dantas ; Mazzeu, Juliana Forte ; Perrone, Eduardo ; Zechi-Ceide, Roseli Maria ; Kokitsu-Nakata, Nancy Mizue ; Vieira, Társis Paiva ; Steiner, Carlos Eduardo ; Gil-da-Silva-Lopes, Vera Lúcia ; Vieira, Daniela Koeller Rodrigues; Boy, Raquel ; Pina Neto, João Monteiro de ; Scapulatempo Neto, Cristovam ; Milanezi, Fernanda ; Rosenberg, Carla
Fonte: American Journal of Medical Genetics. Part A. Unidades: IB, Interunidades em Bioinformática, HRAC, FMRP
Assuntos: CITOGENÉTICA, GENOMAS, CUIDADO PÓS-NATAL, DIAGNÓSTICO
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ABNT
MAZZONETTO, Patricia Camacho et al. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. American Journal of Medical Genetics. Part A, v. No 2024, n. 11, p. e63802, 2024Tradução . . Disponível em: https://doi.org/10.1002/ajmg.a.63802. Acesso em: 08 nov. 2025.
APA
Mazzonetto, P. C., Villela, D., Krepischi, A. C. V., Pierry, P. M., Bonaldi, A., Almeida, L. G. D. de, et al. (2024). Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries. American Journal of Medical Genetics. Part A, No 2024( 11), e63802. doi:10.1002/ajmg.a.63802
NLM
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD de, Paula MG de, Bürger MC, Oliveira AG de, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola DR, Yamamoto GL, Passos-Bueno MR, Campos G da S, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, Pina Neto JM de, Scapulatempo Neto C, Milanezi F, Rosenberg C. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries [Internet]. American Journal of Medical Genetics. Part A. 2024 ; No 2024( 11): e63802.[citado 2025 nov. 08 ] Available from: https://doi.org/10.1002/ajmg.a.63802
Vancouver
Mazzonetto PC, Villela D, Krepischi ACV, Pierry PM, Bonaldi A, Almeida LGD de, Paula MG de, Bürger MC, Oliveira AG de, Fonseca GGG, Giugliani R, Riegel-Giugliani M, Bertola DR, Yamamoto GL, Passos-Bueno MR, Campos G da S, Machado ACD, Mazzeu JF, Perrone E, Zechi-Ceide RM, Kokitsu-Nakata NM, Vieira TP, Steiner CE, Gil-da-Silva-Lopes VL, Vieira DKR, Boy R, Pina Neto JM de, Scapulatempo Neto C, Milanezi F, Rosenberg C. Low-pass whole genome sequencing as a cost-effective alternative to chromosomal microarray analysis for low- and middle-income countries [Internet]. American Journal of Medical Genetics. Part A. 2024 ; No 2024( 11): e63802.[citado 2025 nov. 08 ] Available from: https://doi.org/10.1002/ajmg.a.63802
Artigo de periodico
Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer (2021)
Bandeira, Gabriel; Rocha, Katia; Lazar, Monize; Ezquina, Suzana; Yamamoto, Guilherme ; Varela, Monica; Takahashi, Vanessa; Aguena, Meire; Gollop, Thomaz; Zatz, Mayana ; Passos-Bueno, Maria Rita ; Krepischi, Ana Cristina Victorino ; Okamoto, Oswaldo Keith
Fonte: Breast Cancer. Unidades: IB, Interunidades em Bioinformática, FM
Assuntos: NEOPLASIAS MAMÁRIAS, NEOPLASIAS OVARIANAS, DOENÇAS HEREDITÁRIAS, GENÉTICA
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ABNT
BANDEIRA, Gabriel et al. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. Breast Cancer, v. 28, n. 2, p. 346-354, 2021Tradução . . Disponível em: https://doi.org/10.1007/s12282-020-01165-1. Acesso em: 08 nov. 2025.
APA
Bandeira, G., Rocha, K., Lazar, M., Ezquina, S., Yamamoto, G., Varela, M., et al. (2021). Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. Breast Cancer, 28( 2), 346-354. doi:10.1007/s12282-020-01165-1
NLM
Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi ACV, Okamoto OK. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer [Internet]. Breast Cancer. 2021 ; 28( 2): 346-354.[citado 2025 nov. 08 ] Available from: https://doi.org/10.1007/s12282-020-01165-1
Vancouver
Bandeira G, Rocha K, Lazar M, Ezquina S, Yamamoto G, Varela M, Takahashi V, Aguena M, Gollop T, Zatz M, Passos-Bueno MR, Krepischi ACV, Okamoto OK. Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer [Internet]. Breast Cancer. 2021 ; 28( 2): 346-354.[citado 2025 nov. 08 ] Available from: https://doi.org/10.1007/s12282-020-01165-1
Artigo de periodico
A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case (2019)
Samogy-Costa, Claudia Ismania ; Varella-Branco, Elisa; Monfardini, Frederico; Ferraz, Helen ; Fock, Rodrigo Ambrosio; Barbosa, Ricardo Henrique Almeida ; Pessoa, André Luiz Santos ; Perez, Ana Beatriz Alvarez; Lourenço, Naila ; Vibranovski, Maria ; Krepischi, Ana Cristina Victorino ; Rosenberg, Carla ; Passos-Bueno, Maria Rita
Fonte: Journal of Neurodevelopmental Disorders. Unidades: IB, Interunidades em Bioinformática
Assuntos: DOENÇAS GENÉTICAS, PESSOAS COM DEFICIÊNCIA INTELECTUAL, MUTAÇÃO GENÉTICA, TRANSTORNO DO ESPECTRO AUTISTA, DELEÇÃO DE GENES
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
ABNT
SAMOGY-COSTA, Claudia Ismania et al. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case. Journal of Neurodevelopmental Disorders, v. 11, 2019Tradução . . Disponível em: https://doi.org/10.1186/s11689-019-9273-1. Acesso em: 08 nov. 2025.
APA
Samogy-Costa, C. I., Varella-Branco, E., Monfardini, F., Ferraz, H., Fock, R. A., Barbosa, R. H. A., et al. (2019). A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case. Journal of Neurodevelopmental Disorders, 11. doi:10.1186/s11689-019-9273-1
NLM
Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi ACV, Rosenberg C, Passos-Bueno MR. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case [Internet]. Journal of Neurodevelopmental Disorders. 2019 ; 11[citado 2025 nov. 08 ] Available from: https://doi.org/10.1186/s11689-019-9273-1
Vancouver
Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi ACV, Rosenberg C, Passos-Bueno MR. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype- phenotype correlation and identification of an atypical case [Internet]. Journal of Neurodevelopmental Disorders. 2019 ; 11[citado 2025 nov. 08 ] Available from: https://doi.org/10.1186/s11689-019-9273-1

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