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Artigo de periodico
Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies (2024)
Dangoni, Gustavo D; Teixeira, Anne Caroline B; Costa, Silvia S. da; Scliar, Marília O; Carvalho, Laura Machado Lara ; Silva, Luciana N; Novak, Estela M; Vince, Carolina S. C; Maschietto, Mariana C; Sugayama, Sofia M. M; Odone-filho, Vicente ; Krepischi, Ana Cristina Victorino
Source: Pediatric Research. Unidades: IB, FM
Subjects: NEOPLASIAS, NEUROBLASTOMA
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ABNT
DANGONI, Gustavo D et al. Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies. Pediatric Research, 2024Tradução . . Disponível em: https://doi.org/10.1038/s41390-023-03000-7. Acesso em: 25 maio 2024.
APA
Dangoni, G. D., Teixeira, A. C. B., Costa, S. S. da, Scliar, M. O., Carvalho, L. M. L., Silva, L. N., et al. (2024). Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies. Pediatric Research. doi:10.1038/s41390-023-03000-7
NLM
Dangoni GD, Teixeira ACB, Costa SS da, Scliar MO, Carvalho LML, Silva LN, Novak EM, Vince CSC, Maschietto MC, Sugayama SMM, Odone-filho V, Krepischi ACV. Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies [Internet]. Pediatric Research. 2024 ;[citado 2024 maio 25 ] Available from: https://doi.org/10.1038/s41390-023-03000-7
Vancouver
Dangoni GD, Teixeira ACB, Costa SS da, Scliar MO, Carvalho LML, Silva LN, Novak EM, Vince CSC, Maschietto MC, Sugayama SMM, Odone-filho V, Krepischi ACV. Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies [Internet]. Pediatric Research. 2024 ;[citado 2024 maio 25 ] Available from: https://doi.org/10.1038/s41390-023-03000-7
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
Source: The Journal of Pediatrics. Unidades: IB, FM
Subjects: 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: 25 maio 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 maio 25 ] 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 maio 25 ] Available from: https://doi.org/10.1016/j.jpeds.2022.08.051
Artigo de periodico
Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature (2022)
Tolezano, Giovanna Cantini; Bastos, Giovanna Civitate; Costa, Silvia Souza da; Freire, Bruna Lucheze; Homma, Thais Kataoka; Honjo, Rachel Sayuri ; Yamamoto, Guilherme Lopes ; Passos-Bueno, Maria Rita ; Koiffmann, Celia Priszkulnik ; Kim, Chong Ae ; Vianna-Morgante, Angela M ; Jorge, Alexander Augusto de Lima ; Bertola, Débora Romeo ; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino
Source: Journal of Autism and Developmental Disorders. Unidades: IB, FM
Subjects: MICROCEFALIA, REVISÃO SISTEMÁTICA
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ABNT
TOLEZANO, Giovanna Cantini et al. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders, 2022Tradução . . Disponível em: https://doi.org/10.1007/s10803-022-05853-z. Acesso em: 25 maio 2024.
APA
Tolezano, G. C., Bastos, G. C., Costa, S. S. da, Freire, B. L., Homma, T. K., Honjo, R. S., et al. (2022). Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature. Journal of Autism and Developmental Disorders. doi:10.1007/s10803-022-05853-z
NLM
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 maio 25 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Vancouver
Tolezano GC, Bastos GC, Costa SS da, Freire BL, Homma TK, Honjo RS, Yamamoto GL, Passos-Bueno MR, Koiffmann CP, Kim CA, Vianna-Morgante AM, Jorge AA de L, Bertola DR, Rosenberg C, Krepischi ACV. Burden of rare copy number variants in microcephaly: a Brazilian cohort of 185 microcephalic patients and review of the literature [Internet]. Journal of Autism and Developmental Disorders. 2022 ;[citado 2024 maio 25 ] Available from: https://doi.org/10.1007/s10803-022-05853-z
Artigo de periodico
LHX6 promoter hypermethylation in oncological pediatric patients conceived by IVF (2022)
Dangoni, Gustavo Dib; Teixeira, Anne Caroline Barbosa; Vince, Carolina Sgarioni Camargo; Novak, Estela Maria ; Gimenez, Thamiris Magalhães; Maschietto, Mariana ; Odone-filho, Vicente ; Krepischi, Ana Cristina Victorino
Source: Journal of Developmental Origins of Health and Disease. Unidades: IB, FM
Subjects: EMBRIOGÊNESE, NEOPLASIAS, FERTILIZAÇÃO "IN VITRO"
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ABNT
DANGONI, Gustavo Dib et al. LHX6 promoter hypermethylation in oncological pediatric patients conceived by IVF. Journal of Developmental Origins of Health and Disease, v. 44, n. 1, p. 140-145, 2022Tradução . . Disponível em: https://doi.org/10.1017/S2040174422000526. Acesso em: 25 maio 2024.
APA
Dangoni, G. D., Teixeira, A. C. B., Vince, C. S. C., Novak, E. M., Gimenez, T. M., Maschietto, M., et al. (2022). LHX6 promoter hypermethylation in oncological pediatric patients conceived by IVF. Journal of Developmental Origins of Health and Disease, 44( 1), 140-145. doi:10.1017/S2040174422000526
NLM
Dangoni GD, Teixeira ACB, Vince CSC, Novak EM, Gimenez TM, Maschietto M, Odone-filho V, Krepischi ACV. LHX6 promoter hypermethylation in oncological pediatric patients conceived by IVF [Internet]. Journal of Developmental Origins of Health and Disease. 2022 ; 44( 1): 140-145.[citado 2024 maio 25 ] Available from: https://doi.org/10.1017/S2040174422000526
Vancouver
Dangoni GD, Teixeira ACB, Vince CSC, Novak EM, Gimenez TM, Maschietto M, Odone-filho V, Krepischi ACV. LHX6 promoter hypermethylation in oncological pediatric patients conceived by IVF [Internet]. Journal of Developmental Origins of Health and Disease. 2022 ; 44( 1): 140-145.[citado 2024 maio 25 ] Available from: https://doi.org/10.1017/S2040174422000526
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
Source: Human Reproduction. Unidades: IB, FM
Subjects: PUBERDADE PRECOCE, GENÉTICA, DOENÇAS GENÉTICAS, ANORMALIDADES CROMOSSÔMICAS
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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: 25 maio 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 maio 25 ] 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 maio 25 ] Available from: https://doi.org/10.1093/humrep/deaa306
Artigo de periodico
Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms (2021)
Rocha, Letícia Alves da ; Pires, Lucas Vieira Lacerda ; Yamamoto, Guilherme Lopes ; Ceroni, José Ricardo Magliocco; Honjo, Rachel Sayuri; França Bisneto, Edgard de Novaes; Oliveira, Luiz Antônio Nunes; Rosenberg, Carla ; Krepischi, Ana Cristina Victorino ; Passos-Bueno, Maria Rita ; Kim, Chong Ae ; Bertola, Débora Romeo
Source: Clinical Genetics. Unidades: IB, FM
Subjects: GENÉTICA MÉDICA, DOENÇAS CONGÊNITAS, DOENÇAS GENÉTICAS
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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: 25 maio 2024.
APA
Rocha, L. A. da, Pires, L. V. L., Yamamoto, G. L., Ceroni, J. R. M., Honjo, R. S., França Bisneto, E. de N., et al. (2021). Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms. Clinical Genetics, 100( 5), 615-623. doi:10.1111/cge.14041
NLM
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 maio 25 ] Available from: https://doi.org/10.1111/cge.14041
Vancouver
Rocha LA da, Pires LVL, Yamamoto GL, Ceroni JRM, Honjo RS, França Bisneto E de N, Oliveira LAN, Rosenberg C, Krepischi ACV, Passos-Bueno MR, Kim CA, Bertola DR. Congenital limb deficiency: genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms [Internet]. Clinical Genetics. 2021 ; 100( 5): 615-623.[citado 2024 maio 25 ] 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
Source: Frontiers in Plant Science. Unidades: IB, FM
Subjects: NEOPLASIAS HEPÁTICAS, GENÉTICA MÉDICA, CITOGENÉTICA
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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: 25 maio 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 maio 25 ] 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 maio 25 ] Available from: https://doi.org/10.3389/fonc.2021.741526
Artigo de periodico
Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation (2020)
Rivas, Maria Prates; Aguiar, Talita Ferreira Marques; Maschietto, Mariana ; Lemes, Renan B ; Caires-Junior, Luiz Carlos ; Goulart, Ernesto ; Telles-Silva, Kayque Alves ; Novak, Estela ; Cristofani, Lilian Maria; Odone, Vicente; Cypriano, Monica ; Toledo, Silvia Regina Caminada de ; Carraro, Dirce Maria; Escobar, Melissa Quintero; Lee, Hana; Johnston, Michael; Costa, Cecilia Maria Lima da; Cunha, Isabela Werneck da; Tasic, Ljubica; Pearson, Peter L ; Rosenberg, Carla ; Timchenko, Nikolai; Krepischi, Ana Cristina Victorino
Source: Tumor Biology. Unidades: FM, IB
Subjects: METILAÇÃO DE DNA, NEOPLASIAS HEPÁTICAS, METABOLÔMICA, EPIGÊNESE GENÉTICA, CARCINOGÊNESE
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ABNT
RIVAS, Maria Prates et al. Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation. Tumor Biology, 2020Tradução . . Disponível em: https://doi.org/10.1177/1010428320977124. Acesso em: 25 maio 2024.
APA
Rivas, M. P., Aguiar, T. F. M., Maschietto, M., Lemes, R. B., Caires-Junior, L. C., Goulart, E., et al. (2020). Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation. Tumor Biology. doi:10.1177/1010428320977124
NLM
Rivas MP, Aguiar TFM, Maschietto M, Lemes RB, Caires-Junior LC, Goulart E, Telles-Silva KA, Novak E, Cristofani LM, Odone V, Cypriano M, Toledo SRC de, Carraro DM, Escobar MQ, Lee H, Johnston M, Costa CML da, Cunha IW da, Tasic L, Pearson PL, Rosenberg C, Timchenko N, Krepischi ACV. Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation [Internet]. Tumor Biology. 2020 ;[citado 2024 maio 25 ] Available from: https://doi.org/10.1177/1010428320977124
Vancouver
Rivas MP, Aguiar TFM, Maschietto M, Lemes RB, Caires-Junior LC, Goulart E, Telles-Silva KA, Novak E, Cristofani LM, Odone V, Cypriano M, Toledo SRC de, Carraro DM, Escobar MQ, Lee H, Johnston M, Costa CML da, Cunha IW da, Tasic L, Pearson PL, Rosenberg C, Timchenko N, Krepischi ACV. Hepatoblastomas exhibit marked NNMT downregulation driven by promoter DNA hypermethylation [Internet]. Tumor Biology. 2020 ;[citado 2024 maio 25 ] Available from: https://doi.org/10.1177/1010428320977124
Artigo de periodico
Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause (2018)
Homma, Thais K; Krepischi, Ana Cristina Victorino ; Furuya, Tatiane K; Honjo, Rachel S; Malaquias, Alexsandra C; Bertola, Débora R; Costa, Sílvia S; Canton, Ana P; Roela, Rosimeire A; Freire, Bruna L.; Kim, Chong A; Rosenberg, Carla ; Jorge, Alexander A L
Source: Hormone Research in Paediatrics. Unidades: IB, FM
Subjects: GENÉTICA, TRANSTORNOS DO CRESCIMENTO, DESENVOLVIMENTO HUMANO, ESTATURA, CROMOSSOMOS, ENDOCRINOLOGIA
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ABNT
HOMMA, Thais K et al. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, v. 89, p. 13-21, 2018Tradução . . Disponível em: https://doi.org/10.1159/000481777. Acesso em: 25 maio 2024.
APA
Homma, T. K., Krepischi, A. C. V., Furuya, T. K., Honjo, R. S., Malaquias, A. C., Bertola, D. R., et al. (2018). Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause. Hormone Research in Paediatrics, 89, 13-21. doi:10.1159/000481777
NLM
Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause [Internet]. Hormone Research in Paediatrics. 2018 ; 89 13-21.[citado 2024 maio 25 ] Available from: https://doi.org/10.1159/000481777
Vancouver
Homma TK, Krepischi ACV, Furuya TK, Honjo RS, Malaquias AC, Bertola DR, Costa SS, Canton AP, Roela RA, Freire BL, Kim CA, Rosenberg C, Jorge AAL. Recurrent Copy Number Variants Associated with Syndromic Short Stature of Unknown Cause [Internet]. Hormone Research in Paediatrics. 2018 ; 89 13-21.[citado 2024 maio 25 ] Available from: https://doi.org/10.1159/000481777

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