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1
المؤلفون: Serra, Marta Morais Simões Pinto
المساهمون: Carla, Reizinho, Repositório da Universidade de Lisboa
مصطلحات موضوعية: Secondary glioblastoma, Pituitary adenoma, Familial gliomas, Li-Fraumeni syndrome, Tumor gene p53, Domínio/Área Científica::Ciências Médicas
وصف الملف: application/pdf
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2دورية أكاديمية
المؤلفون: Evans, DG, Woodward, ER, Bajalica-Lagercrantz, S, Oliveira, C, Frebourg, T
مصطلحات موضوعية: Breast cancer, Gene panels, Heritable TP53-related cancer syndrome, Interpretation, Li-Fraumeni syndrome, TP53, Variant
وصف الملف: application/pdf
العلاقة: 2072-6694
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3دورية أكاديمية
المؤلفون: Ventura, Eduardo, Dionísio, Sílvia, Ferreira, Ângela, Saleiro, Rute, Marques, Hugo, Magalhães, Manuel, Monteiro, Carlos
المساهمون: Repositório Científico do Centro Hospitalar Universitário de Santo António
مصطلحات موضوعية: Li-Fraumeni syndrome, cancer predisposition, maxilla, mesenchymal chondrosarcoma
وصف الملف: application/pdf
العلاقة: Ventura E, Dionísio S, Ferreira Â, et al. Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome. J Surg Case Rep. 2020;2020(1):rjz386. doi:10.1093/jscr/rjz386; 2042-8812
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4دورية أكاديمية
المؤلفون: Giacomazzi, Juliana, Correia, Rudinei Luis, Palmero, Edenir Ines, Gaspar, Jorge Francisco, Almeida, Marta, Portela, Catarina, Camey, Suzi Alves, Monteiro, Augusta, Pinheiro, Manuela, Peixoto, Ana, Teixeira, Manuel R., Reis, R. M., Ashton-Prolla, Patricia
المساهمون: Universidade do Minho
مصطلحات موضوعية: Breast cancer, Li-Fraumeni Syndrome, Li-Fraumeni-Like Syndrome, TP53 gene, TP53 p.R337H mutation, TP53 gene and TP53 p, R337H mutation, TP53 gene and TP53 p.R337H mutation, Science & Technology
وصف الملف: application/pdf
العلاقة: 1075-122X; 25052705
الإتاحة: http://hdl.handle.net/1822/33437Test
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5دورية أكاديمية
المؤلفون: Pinto, Carla, Veiga, Isabel, Pinheiro, Manuela, Peixoto, Ana, Pinto, Armando, Lopes, José M., Reis, R. M., Baptista, Manuela, Roque, Lúcia, Teixeira, Manuel R.
المساهمون: Universidade do Minho
مصطلحات موضوعية: Age of onset, Female, Genes, p53, Genetic predisposition to disease, Germ-line mutation, Humans, Li-fraumeni syndrome, Male, Pedigree, Polymorphism, Single nucleotide, Portugal, Proto-oncogene proteins c-mdm2, Telomere, TP53 germline mutations, MDM2-SNP309, TP53-72Arg, Telomere length, Science & Technology
وصف الملف: application/pdf
العلاقة: 1389-9600; 1573-7292; 19468865
الإتاحة: http://hdl.handle.net/1822/67647Test
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6دورية أكاديمية
المؤلفون: Oliveira, Carla, Ferreira, Paulo, Nabais, Sérgio, Campos, Luísa, Ferreira, Ana, Cirnes, Luís, Alves, Catarina Castro, Veiga, Isabel, Fragoso, Maria, Regateiro, Fernando, Dias, Luís Moreira, Moreira, Herculano, Suriano, Gianpaolo, Machado, José Carlos, Lopes, Carlos, Castedo, Sérgio, Carneiro, Fátima, Seruca, Raquel
المصدر: European Journal of Cancer. 40:12 (2004) 1897-1903
مصطلحات موضوعية: E-cadherin germline mutations, Familial gastric cancer, Hereditary diffuse gastric cancer, p53 germline mutations, Li-Fraumeni syndrome, SMAD4 mutations, Caspase-10 mutations
وصف الملف: aplication/PDF
الإتاحة: http://hdl.handle.net/10316/4780Test
