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Characterization of Novel Missense Variants of SERPINA1 Gene Causing Alpha-1 Antitrypsin Deficiency.
Matamala N, Lara B, Gomez-Mariano G, Martínez S, Retana D, Fernandez T, Silvestre RA, Belmonte I, Rodriguez-Frias F, Vilar M, Sáez R, Iturbe I, Castillo S, Molina-Molina M, Texido A, Tirado-Conde G, Lopez-Campos JL, Posada M, Blanco I, Janciauskiene S, Martinez-Delgado B. Matamala N, et al. Among authors: belmonte i. Am J Respir Cell Mol Biol. 2018 Jun;58(6):706-716. doi: 10.1165/rcmb.2017-0179OC. Am J Respir Cell Mol Biol. 2018. PMID: 29232161 Free article.
Laboratory Diagnosis by Genotyping.
Belmonte I, Montoto L, Rodríguez-Frías F. Belmonte I, et al. Methods Mol Biol. 2017;1639:45-60. doi: 10.1007/978-1-4939-7163-3_5. Methods Mol Biol. 2017. PMID: 28752445
Gene and miRNA expression profiles in PBMCs from patients with severe and mild emphysema and PiZZ alpha1-antitrypsin deficiency.
Esquinas C, Janciauskiene S, Gonzalo R, Mas de Xaxars G, Olejnicka B, Belmonte I, Barrecheguren M, Rodriguez E, Nuñez A, Rodriguez-Frias F, Miravitlles M. Esquinas C, et al. Among authors: belmonte i. Int J Chron Obstruct Pulmon Dis. 2017 Nov 29;12:3381-3390. doi: 10.2147/COPD.S145445. eCollection 2017. Int J Chron Obstruct Pulmon Dis. 2017. PMID: 29238183 Free PMC article.
New cis-Acting Variants in PI*S Background Produce Null Phenotypes Causing Alpha-1 Antitrypsin Deficiency.
Matamala N, Gomez-Mariano G, Perez JA, Baladrón B, Torres-Durán M, Michel FJ, Saez R, Hernández-Pérez JM, Belmonte I, Rodriguez-Frias F, Blanco I, Strnad P, Janciauskiene S, Martinez-Delgado B. Matamala N, et al. Among authors: belmonte i. Am J Respir Cell Mol Biol. 2020 Oct;63(4):444-451. doi: 10.1165/rcmb.2020-0021OC. Am J Respir Cell Mol Biol. 2020. PMID: 32515985
Trends in Diagnosis of Alpha-1 Antitrypsin Deficiency Between 2015 and 2019 in a Reference Laboratory.
Belmonte I, Nuñez A, Barrecheguren M, Esquinas C, Pons M, López-Martínez RM, Ruiz G, Blanco-Grau A, Ferrer R, Genescà J, Miravitlles M, Rodríguez-Frías F. Belmonte I, et al. Int J Chron Obstruct Pulmon Dis. 2020 Oct 7;15:2421-2431. doi: 10.2147/COPD.S269641. eCollection 2020. Int J Chron Obstruct Pulmon Dis. 2020. PMID: 33116457 Free PMC article.
38 results