Repositorio Dspace

Listar01. Consejería de Salud por tema "Genotype"

Listar01. Consejería de Salud por tema "Genotype"

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  • Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry 
    Rueda-Nieto, Senay; Mondéjar-López, Pedro; Mira-Escolano, María-Pilar; Cutillas-Tolin, Ana; Maceda-Roldán, Luis-Alberto; Arense-Gonzalo, Julián-J; Palomar-Rodríguez, Joaquín (BMC, 2022-06)
    BACKGROUND: Cystic fibrosis (CF) has a vast and heterogeneous mutational spectrum in Europe. This variability has also been described in Spain, and there are numerous studies linking CFTR variants with the symptoms of the ...
  • Association of Selenoprotein and Selenium Pathway Genotypes with Risk of Colorectal Cancer and Interaction with Selenium Status 
    Fedirko, Veronika; Jenab, Mazda; Meplan, Catherine; Jones, Jeb-S; Zhu, Wanzhe; Schomburg, Lutz; Siddiq, Afshan; Hybsier, Sandra; Overvad, Kim; Tjonneland, Anne; Omichessan, Hanane; Perduca, Vittorio; Boutron-Ruault, Marie-Christine; Kuehn, Tilman; Katzke, Verena; Aleksandrova, Krasimira; Trichopoulou, Antonia; Karakatsani, Anna; Kotanidou, Anastasia; Tumino, Rosario; Panico, Salvatore; Masala, Giovanna; Agnoli, Claudia; Naccarati, Alessio; Bueno-de-Mesquita, Bas; Vermeulen, Roel-C-H; Weiderpass, Elisabete; Skeie, Guri; Nost, Therese-Haugdahl; Lujan-Barroso, Leila; Quirós, José-Ramón; Huerta-Castaño, José-María; Rodríguez-Barranco, Miguel; Barricarte-Gurrea, Aurelio; Gylling, Bjoern; Harlid, Sophia; Bradbury, Kathryn-E; Wareham, Nick; Khaw, Kay-Tee; Gunter, Marc; Murphy, Neil; Freisling, Heinz; Tsilidis, Kostas; Aune, Dagfinn; Riboli, Elio; Hesketh, John-E; Hughes, David-J (MDPI, 2019-04)
    Selenoprotein genetic variations and suboptimal selenium (Se) levels may contribute to the risk of colorectal cancer (CRC) development. We examined the association between CRC risk and genotype for single nucleotide ...
  • The RS4939827 polymorphism in the SMAD7 GENE and its association with Mediterranean diet in colorectal carcinogenesis 
    Alonso-Molero, Jessica; González-Donquiles, Carmen; Palazuelos, Camilo; Fernández-Villa, Tania; Ramos, Elena; Pollan, Marina; Aragonés, Nuria; Llorca, Javier; Henar-Alonso, M; Tardon, Adonina; Amiano, Pilar; Jiménez-Moleon, José-Juan; Peiro-Pérez, Rosana; Capelo, Rocío; Molina, Antonio-J; Gómez-Acebo, Inés; Guevara, Marcela; Pérez-Gómez, Beatriz; Lope, Virginia; Huerta-Castaño, José-María; Castaño-Vinyals, Gemma; Kogevinas, Manolis; Moreno, Víctor; Martín, Vicente (BMC, 2017-10-30)
    BACKGROUND: The objective of our investigation is to study the relationship between the rs4939827 SNP in the SMAD7 gene, Mediterranean diet pattern and the risk of colorectal cancer. METHODS: We examined 1087 cases of ...

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