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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
GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes.
Martinez de LaPiscina I, de Mingo C, Riedl S, Rodriguez A, Pandey AV, Fernández-Cancio M, Camats N, Sinclair A, Castaño L, Audi L, Flück CE. Martinez de LaPiscina I, et al. Front Endocrinol (Lausanne). 2018 Apr 4;9:142. doi: 10.3389/fendo.2018.00142. eCollection 2018. Front Endocrinol (Lausanne). 2018. PMID: 29670578 Free PMC article.
Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.
Baz-Redón N, Rovira-Amigo S, Fernández-Cancio M, Castillo-Corullón S, Cols M, Caballero-Rabasco MA, Asensio Ó, Martín de Vicente C, Martínez-Colls MDM, Torrent-Vernetta A, de Mir-Messa I, Gartner S, Iglesias-Serrano I, Díez-Izquierdo A, Polverino E, Amengual-Pieras E, Amaro-Rodríguez R, Vendrell M, Mumany M, Pascual-Sánchez MT, Pérez-Dueñas B, Reula A, Escribano A, Dasí F, Armengot-Carceller M, Garrido-Pontnou M, Camats-Tarruella N, Moreno-Galdó A. Baz-Redón N, et al. Among authors: fernandez cancio m. J Clin Med. 2020 Nov 9;9(11):3603. doi: 10.3390/jcm9113603. J Clin Med. 2020. PMID: 33182294 Free PMC article.
63 results