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Page 1
Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.
Restrepo-Cordoba MA, Wahbi K, Florian AR, Jiménez-Jáimez J, Politano L, Arad M, Climent-Paya V, Garcia-Alvarez A, Hansen RB, Larrañaga-Moreira JM, Kubanek M, Lopes LR, Ros A, Jurcut R, Rasmussen TB, Ruiz-Guerrero L, Pribe-Wolferts R, Palomino-Doza J, Bilinska Z, Rodríguez-Palomares JF, Van Loon RLE, Basurte Elorz MT, Quarta G, Robledo Iñarritu M, Verdonschot JAJ, Stojkovic T, Shomanova Z, Bermudez-Jimenez F, Palladino A, Freimark D, García-Álvarez MI, Jorda P, Dominguez F, Ochoa JP, Girolami F, Brugada R, Meder B, Barriales-Villa R, Mogensen J, Laforêt P, Yilmaz A, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators (see online supplementary Appendix S1). Restrepo-Cordoba MA, et al. Among authors: ros a. Eur J Heart Fail. 2021 Aug;23(8):1276-1286. doi: 10.1002/ejhf.2250. Epub 2021 Jun 9. Eur J Heart Fail. 2021. PMID: 34050592 Free article.
Toxic and nutritional factors trigger Leber hereditary optic neuropathy due to a mitochondrial tRNA mutation.
Vela-Sebastián A, López-Gallardo E, Emperador S, Hernández-Ainsa C, Pacheu-Grau D, Blanco I, Ros A, Pascual-Benito E, Rabaneda-Lombarte N, Presas-Rodríguez S, García-Robles P, Montoya J, Ruiz-Pesini E. Vela-Sebastián A, et al. Among authors: ros a. Clin Genet. 2022 Oct;102(4):339-344. doi: 10.1111/cge.14189. Epub 2022 Jul 18. Clin Genet. 2022. PMID: 35808913 Free PMC article.
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: ros a. 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
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. Among authors: ros a. 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
Early Genetic Diagnosis of Neurofibromatosis Type 2 From Skin Plaque Plexiform Schwannomas in Childhood.
Castellanos E, Plana A, Carrato C, Carrió M, Rosas I, Amilibia E, Roca-Ribas F, Hostalot C, Castillo A, Ros A, Quer A, Becerra JL, Salvador H, Lázaro C, Blanco I, Serra E, Bielsa I; for CSUR Phakomatoses Multidisciplinary Clinics HUGTiP-ICO-IGTP. Castellanos E, et al. Among authors: ros a. JAMA Dermatol. 2018 Mar 1;154(3):341-346. doi: 10.1001/jamadermatol.2017.5464. JAMA Dermatol. 2018. PMID: 29322178 Free PMC article.
Long-term results of severe facial paralysis.
Mañós-Pujol M, Nogues J, Ros A, Montero J, Martinez-Matos JM, Dicenta M. Mañós-Pujol M, et al. Among authors: ros a. Eur Arch Otorhinolaryngol. 1994 Dec:S512-3. doi: 10.1007/978-3-642-85090-5_204. Eur Arch Otorhinolaryngol. 1994. PMID: 10774436 No abstract available.
Etiopathogenesis of Bell's palsy: an immune-mediated theory.
Mañós-Pujol M, Nogués J, Ros A, Dicenta M, Mestre M, Buendía E. Mañós-Pujol M, et al. Among authors: ros a. Eur Arch Otorhinolaryngol. 1994 Dec:S445-6. doi: 10.1007/978-3-642-85090-5_177. Eur Arch Otorhinolaryngol. 1994. PMID: 10774416 No abstract available.
Inland freshwater aquaculture in a warming world.
Wind T, Ros A, Chucholl C, Roch S, Schumann M, Schulz C, Brinker A. Wind T, et al. Among authors: ros a. Sci Total Environ. 2024 May 15;934:173275. doi: 10.1016/j.scitotenv.2024.173275. Online ahead of print. Sci Total Environ. 2024. PMID: 38754498 Free article.
451 results