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Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation.
Tejada MI, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá M. Tejada MI, et al. Among authors: garcia b, garcia alegria e. Clin Genet. 2006 Aug;70(2):140-4. doi: 10.1111/j.1399-0004.2006.00647.x. Clin Genet. 2006. PMID: 16879196
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases.
Bullich G, Matalonga L, Pujadas M, Papakonstantinou A, Piscia D, Tonda R, Artuch R, Gallano P, Garrabou G, González JR, Grinberg D, Guitart M, Laurie S, Lázaro C, Luengo C, Martí R, Milà M, Ovelleiro D, Parra G, Pujol A, Tizzano E, Macaya A, Palau F, Ribes A, Pérez-Jurado LA, Beltran S; Undiagnosed Rare Disease Program of Catalonia (URD-Cat) Consortium. Bullich G, et al. J Mol Diagn. 2022 May;24(5):529-542. doi: 10.1016/j.jmoldx.2022.02.003. J Mol Diagn. 2022. PMID: 35569879 Free article.
Neurofibromatosis type 1 families with first-degree relatives harbouring distinct NF1 pathogenic variants. Genetic counselling and familial diagnosis: what should be offered?
Garcia B, Catasus N, Ros A, Rosas I, Negro A, Guerrero-Murillo M, Valero AM, Duat-Rodriguez A, Becerra JL, Bonache S, Lázaro Garcia C, Comas C, Bielsa I, Serra E, Hernández-Chico C, Martin Y, Castellanos E, Blanco I. Garcia B, et al. J Med Genet. 2022 Oct;59(10):1017-1023. doi: 10.1136/jmedgenet-2021-108301. Epub 2022 Feb 4. J Med Genet. 2022. PMID: 35121649
Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
Catasús N, Garcia B, Galván-Femenía I, Plana A, Negro A, Rosas I, Ros A, Amilibia E, Becerra JL, Hostalot C, Rocaribas F, Bielsa I, Lazaro Garcia C, de Cid R, Serra E, Blanco I, Castellanos E; NF2 Spanish National Reference Centre HUGTP-ICO-IGTP. Catasús N, et al. Among authors: garcia b. J Med Genet. 2022 Jul;59(7):678-686. doi: 10.1136/jmedgenet-2020-107548. Epub 2021 Aug 4. J Med Genet. 2022. PMID: 34348961
Combining loop with thiazide diuretics in patients discharged home after a heart failure decompensation: Association with 30-day outcomes.
Miró Ò, Núñez J, Trullàs JC, Lopez-Ayala P, Llauger L, Alquézar-Arbé A, Miñana G, Mollar A, de la Espriella R, Lorenzo M, Jacob J, Espinosa B, Garcés-Horna V, Aguirre A, Fortuny MJ, Martínez-Nadal G, Gil V, Mueller C, Llorens P; ICA-SEMES; INCLIVA; ALCALOTIC research groups. Miró Ò, et al. Eur J Intern Med. 2024 May 18:S0953-6205(24)00213-9. doi: 10.1016/j.ejim.2024.05.009. Online ahead of print. Eur J Intern Med. 2024. PMID: 38763846
Hemodynamic Support in Sepsis.
Antonucci E, Garcia B, Legrand M. Antonucci E, et al. Among authors: garcia b. Anesthesiology. 2024 Jun 1;140(6):1205-1220. doi: 10.1097/ALN.0000000000004958. Anesthesiology. 2024. PMID: 38743000 Free article. Review. No abstract available.
1,968 results