Rodriguez-Frias F - Search Results

1

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. 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.

2

[Study of the frequency of different phenotypes of alpha-1-antitrypsin in a population of Barcelona].

Vidal R, Miravitlles M, Jardí R, Torrella M, Rodríguez-Frías F, Moral P, Vaqué J. Vidal R, et al. Med Clin (Barc). 1996 Jul 6;107(6):211-4. Med Clin (Barc). 1996. PMID: 8755448 Spanish.

3

[Molecular characterization of two variants of alpha-1-antitrypsin deficiency: PI Mpalermo and PI Plovel].

Jardí R, Rodríguez-Frías F, Casas F, Cotrina M, Vidal R, Miravitlles M, Pascual C. Jardí R, et al. Med Clin (Barc). 1997 Oct 11;109(12):463-6. Med Clin (Barc). 1997. PMID: 9441182 Spanish.

4

Influence of deficient alpha1-anti-trypsin phenotypes on clinical characteristics and severity of asthma in adults.

Miravitlles M, Vilà S, Torrella M, Balcells E, Rodríguez-Frías F, de la Roza C, Jardí R, Vidal R. Miravitlles M, et al. Respir Med. 2002 Mar;96(3):186-92. doi: 10.1053/rmed.2001.1237. Respir Med. 2002. PMID: 11905553 Free article.

5

Results of a case-detection programme for alpha1-antitrypsin deficiency in COPD patients.

de la Roza C, Rodríguez-Frías F, Lara B, Vidal R, Jardí R, Miravitlles M. de la Roza C, et al. Eur Respir J. 2005 Oct;26(4):616-22. doi: 10.1183/09031936.05.00007305. Eur Respir J. 2005. PMID: 16204591 Free article.

6

Laboratory testing of individuals with severe alpha1-antitrypsin deficiency in three European centres.

Miravitlles M, Herr C, Ferrarotti I, Jardi R, Rodriguez-Frias F, Luisetti M, Bals R. Miravitlles M, et al. Eur Respir J. 2010 May;35(5):960-8. doi: 10.1183/09031936.00069709. Eur Respir J. 2010. PMID: 20436173 Free article.

7

Rare alpha-1-antitrypsin variants: are they really so rare?

Rodriguez-Frias F, Miravitlles M, Vidal R, Camos S, Jardi R. Rodriguez-Frias F, et al. Ther Adv Respir Dis. 2012 Apr;6(2):79-85. doi: 10.1177/1753465811434320. Epub 2012 Jan 30. Ther Adv Respir Dis. 2012. PMID: 22291048 Free article.

8

Indications for active case searches and intravenous alpha-1 antitrypsin treatment for patients with alpha-1 antitrypsin deficiency chronic pulmonary obstructive disease: an update.

Casas F, Blanco I, Martínez MT, Bustamante A, Miravitlles M, Cadenas S, Hernández JM, Lázaro L, Rodríguez E, Rodríguez-Frías F, Torres M, Lara B. Casas F, et al. Arch Bronconeumol. 2015 Apr;51(4):185-92. doi: 10.1016/j.arbres.2014.05.008. Epub 2014 Jul 12. Arch Bronconeumol. 2015. PMID: 25027067 English, Spanish.

9

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid.

Lara B, Martínez MT, Blanco I, Hernández-Moro C, Velasco EA, Ferrarotti I, Rodriguez-Frias F, Perez L, Vazquez I, Alonso J, Posada M, Martínez-Delgado B. Lara B, et al. Respir Res. 2014 Oct 7;15(1):125. doi: 10.1186/s12931-014-0125-y. Respir Res. 2014. PMID: 25287719 Free PMC article.

10

Rapid detection of Mmalton α1-antitrypsin deficiency allele by real-time PCR and melting curves in whole blood, serum and dried blood spot samples.

Belmonte I, Montoto L, Miravitlles M, Barrecheguren M, Esquinas C, Rodríguez E, Giralt M, Rodríguez-Frías F. Belmonte I, et al. Clin Chem Lab Med. 2016 Feb;54(2):241-8. doi: 10.1515/cclm-2015-0297. Clin Chem Lab Med. 2016. PMID: 26154193 Free article.

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