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01/01/2024
Five new patients with TAOK related disorders: relevance of TAOK2 gene in neurodevelopment?
Lasa-Aranzasti, A, Palafoll, IV, Gonzalez, AMC, Fernandez, P, Cuscó, I, Trujillano, L, Campos, B, Codina, M, Leno, J, García-Arumi, E, Tizzano, E. Five new patients with TAOK related disorders: relevance of TAOK2 gene in neurodevelopment?. EUROPEAN JOURNAL OF HUMAN GENETICS. 2024; 32DOI:. PMID:. IF:4.600(Q1/2D).
01/06/2023
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples
Abuli, A, Costa-Roger, M, Codina-Sola, M, Valenzuela, I, Leno-Colorado, J, Rovira-Moreno, E, Cueto-Gonzalez, A, Fernandez-Alvarez, P, Garcia-Arumi, E, Cusco, I, Tizzano, EF. Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples. JOURNAL OF MEDICAL GENETICS. 2023; 60(6)DOI:10.1136/jmg-2022-108607. PMID:36600615. IF:3.600(Q2/3D).
01/06/2023
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events
Segarra-Casas, A, Dominguez-Gonzalez, C, Hernandez-Lain, A, Sanchez-Calvin, MT, Camacho, A, Rivas, E, Campo-Barasoain, A, Madruga, M, Ortez, C, Natera-de Benito, D, Nascimento, A, Codina, A, Rodriguez, MJ, Gallano, P, Gonzalez-Quereda, L. Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events. JOURNAL OF MEDICAL GENETICS. 2023; 60(6)DOI:10.1136/jmg-2022-108828. PMID:36535754. IF:3.600(Q2/3D).
01/05/2023
Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study
Miarons, M, Gordon, AM, Riera, P, Nicolas, FG. Allelic Frequency of DPYD Genetic Variants in Patients With Cancer in Spain: The PhotoDPYD Study. ONCOLOGIST. 2023; 28(5)DOI:10.1093/oncolo/oyad077. PMID:37014829. IF:4.800(Q1/3D).
12/01/2023
263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022
Sarkozy A., Bourke J.P., Ferlini A., Barthélémy I., Cripe L.H., Reuben E., Evangelista T., Ferlini A., Florian A., Gribnau J., Gonzalez-Quereda L., Guglieri M., Niks E., Phadke R., Politano L., Quinlivan R., Vissing J., Voermans N., Vroom E., Pietrusz A., Fortunato F., Houwen S.. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022. NEUROMUSCULAR DISORDERS. 2023; 33(3)DOI:10.1016/j.nmd.2023.01.003. PMID:36804616. IF:2.700(Q2/4D).
01/01/2023
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history
Codina-Sola, M, Trujillano, L, Abuli, A, Rovira-Moreno, E, Munoz-Cabello, P, Campos, B, Fernandez-Alvarez, P, Palau, D, Carrasco, E, Valenzuela, I, Cueto-Gonzalez, AM, Lasa-Aranzasti, A, Limeres, J, Leno-Colorado, J, Costa-Roger, M, Moles-Fernandez, A, Balmana, J, Diez, O, Cusco, I, Garcia-Arumi, E, Tizzano, EF. An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history. EUROPEAN JOURNAL OF HUMAN GENETICS. 2023; 31(2)DOI:10.1038/s41431-022-01240-5. PMID:36446894. IF:3.700(Q2/3D).