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Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.
Rudilla F, Franco-Jarava C, Martínez-Gallo M, Garcia-Prat M, Martín-Nalda A, Rivière J, Aguiló-Cucurull A, Mongay L, Vidal F, Solanich X, Irastorza I, Santos-Pérez JL, Tercedor Sánchez J, Cuscó I, Serra C, Baz-Redón N, Fernández-Cancio M, Carreras C, Vagace JM, Garcia-Patos V, Pujol-Borrell R, Soler-Palacín P, Colobran R. Rudilla F, et al. Front Immunol. 2019 Oct 1;10:2325. doi: 10.3389/fimmu.2019.02325. eCollection 2019. Front Immunol. 2019. PMID: 31681265 Free PMC article.
Role of Immunofluorescence and Molecular Diagnosis in the Characterization of Primary Ciliary Dyskinesia.
Baz-Redón N, Rovira-Amigo S, Camats-Tarruella N, Fernández-Cancio M, Garrido-Pontnou M, Antolín M, Reula A, Armengot-Carceller M, Carrascosa A, Moreno-Galdó A. Baz-Redón N, et al. Arch Bronconeumol (Engl Ed). 2019 Aug;55(8):439-441. doi: 10.1016/j.arbres.2019.01.021. Epub 2019 Mar 5. Arch Bronconeumol (Engl Ed). 2019. PMID: 30850195 English, Spanish. No abstract available.
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. 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.
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report.
Baz-Redón N, Soler-Colomer L, Fernández-Cancio M, Benito-Sanz S, Garrido M, Moliné T, Clemente M, Camats-Tarruella N, Yeste D. Baz-Redón N, et al. Among authors: fernandez cancio m. Front Endocrinol (Lausanne). 2022 Oct 11;13:957969. doi: 10.3389/fendo.2022.957969. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 36303863 Free PMC article.
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
Clemente M, Cobo P, Antolín M, Campos A, Yeste D, Tomasini R, Caimari M, Masas M, García-Arumí E, Fernández-Cancio M, Baz-Redón N, Camats-Tarruella N. Clemente M, et al. Among authors: fernandez cancio m. J Clin Endocrinol Metab. 2023 Oct 18;108(11):e1316-e1328. doi: 10.1210/clinem/dgad280. J Clin Endocrinol Metab. 2023. PMID: 37216904
Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.
Fernández-Cancio M, Antolín M, Clemente M, Campos-Martorell A, Mogas E, Baz-Redón N, Leno-Colorado J, Comas-Armangué G, García-Arumí E, Soler-Colomer L, González-Llorens N, Camats-Tarruella N, Yeste D. Fernández-Cancio M, et al. Front Endocrinol (Lausanne). 2024 Jul 8;15:1367808. doi: 10.3389/fendo.2024.1367808. eCollection 2024. Front Endocrinol (Lausanne). 2024. PMID: 39040671 Free PMC article.
Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
Baz-Redón N, Antolín M, Clemente M, Campos A, Mogas E, Fernández-Cancio M, Zafon E, García-Arumí E, Soler L, González-Llorens N, Aguilar-Riera C, Camats-Tarruella N, Yeste D. Baz-Redón N, et al. Among authors: fernandez cancio m. Int J Mol Sci. 2024 Aug 3;25(15):8473. doi: 10.3390/ijms25158473. Int J Mol Sci. 2024. PMID: 39126042 Free PMC article.
Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).
Yeste D, Baz-Redón N, Antolín M, Garcia-Arumí E, Mogas E, Campos-Martorell A, González-Llorens N, Aguilar-Riera C, Soler-Colomer L, Clemente M, Fernández-Cancio M, Camats-Tarruella N. Yeste D, et al. Among authors: fernandez cancio m. Int J Mol Sci. 2024 Sep 18;25(18):10032. doi: 10.3390/ijms251810032. Int J Mol Sci. 2024. PMID: 39337518 Free PMC article.
65 results