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Page 1
Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Baz-Redón N, Rovira-Amigo S, Paramonov I, Castillo-Corullón S, Cols Roig M, Antolín M, García Arumí E, Torrent-Vernetta A, de Mir Messa I, Gartner S, Iglesias Serrano I, Caballero-Rabasco MA, Asensio de la Cruz Ó, Vizmanos-Lamotte G, Martín de Vicente C, Martínez-Colls MDM, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Polverino E, Amengual Pieras E, Amaro-Rodríguez R, Garrido-Pontnou M, Tizzano E, Camats-Tarruella N, Fernández-Cancio M, Moreno-Galdó A. Baz-Redón N, et al. Among authors: paramonov i. Arch Bronconeumol (Engl Ed). 2021 Mar;57(3):186-194. doi: 10.1016/j.arbres.2020.02.010. Epub 2020 Apr 3. Arch Bronconeumol (Engl Ed). 2021. PMID: 32253119 English, Spanish.
A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.
Fernández-Álvarez P, Codina-Sola M, Valenzuela I, Teixidó-Turá G, Cueto-González A, Paramonov I, Antolín M, López-Grondona F, Vendrell T, Evangelista A, García-Arumí E, Tizzano EF. Fernández-Álvarez P, et al. Among authors: paramonov i. J Med Genet. 2022 Jun;59(6):605-612. doi: 10.1136/jmedgenet-2020-107604. Epub 2021 Apr 28. J Med Genet. 2022. PMID: 33910934 Review.
Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Camats N, Baz-Redón N, Fernández-Cancio M, Clemente M, Campos-Martorell A, Jaimes N, Antolín M, Garcia-Arumí E, Blasco-Pérez L, Paramonov I, Mogas E, Soler-Colomer L, Yeste D. Camats N, et al. Among authors: paramonov i. J Clin Endocrinol Metab. 2021 Jan 1;106(1):e152-e170. doi: 10.1210/clinem/dgaa711. J Clin Endocrinol Metab. 2021. PMID: 33029631
Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.
Rivière JG, Franco-Jarava C, Martínez-Gallo M, Aguiló-Cucurull A, Blasco-Pérez L, Paramonov I, Antolín M, Martín-Nalda A, Soler-Palacín P, Colobran R. Rivière JG, et al. Among authors: paramonov i. Front Immunol. 2020 Feb 12;11:46. doi: 10.3389/fimmu.2020.00046. eCollection 2020. Front Immunol. 2020. PMID: 32117230 Free PMC article.
Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.
Dieli-Crimi R, Martínez-Gallo M, Franco-Jarava C, Antolin M, Blasco L, Paramonov I, Semidey ME, Álvarez Fernández A, Molero X, Velásquez J, Martín-Nalda A, Pujol-Borrell R, Colobran R. Dieli-Crimi R, et al. Among authors: paramonov i. Clin Immunol. 2018 Oct;195:49-58. doi: 10.1016/j.clim.2018.07.015. Epub 2018 Jul 29. Clin Immunol. 2018. PMID: 30063981
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.
Reply to "Global Central Nervous System Atrophy in Spinal Muscular Atrophy Type 0".
Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Cuscó I, Tizzano EF, Zanoteli E. Mendonça RH, et al. Among authors: paramonov i. Ann Neurol. 2019 Nov;86(5):803. doi: 10.1002/ana.25597. Epub 2019 Oct 3. Ann Neurol. 2019. PMID: 31502291 No abstract available.
Severe brain involvement in 5q spinal muscular atrophy type 0.
Mendonça RH, Rocha AJ, Lozano-Arango A, Diaz AB, Castiglioni C, Silva AMS, Reed UC, Kulikowski L, Paramonov I, Cuscó I, Tizzano EF, Zanoteli E. Mendonça RH, et al. Among authors: paramonov i. Ann Neurol. 2019 Sep;86(3):458-462. doi: 10.1002/ana.25549. Epub 2019 Jul 24. Ann Neurol. 2019. PMID: 31301241
149 results