Izquierdo-Álvarez S - Search Results

1

Effect of AGG Interruptions on FMR1 Maternal Transmissions.

Villate O, Ibarluzea N, Maortua H, de la Hoz AB, Rodriguez-Revenga L, Izquierdo-Álvarez S, Tejada MI. Villate O, et al. Front Mol Biosci. 2020 Jul 14;7:135. doi: 10.3389/fmolb.2020.00135. eCollection 2020. Front Mol Biosci. 2020. PMID: 32766278 Free PMC article.

2

Clinical implication of FMR1 intermediate alleles in a Spanish population.

Alvarez-Mora MI, Madrigal I, Martinez F, Tejada MI, Izquierdo-Alvarez S, Sanchez-Villar de Saz P, Caro-Llopis A, Villate O, Rodríguez-Santiago B, Pérez Jurado LA, Rodriguez-Revenga L, Milà M. Alvarez-Mora MI, et al. Clin Genet. 2018 Jul;94(1):153-158. doi: 10.1111/cge.13257. Clin Genet. 2018. PMID: 29604051

3

Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome.

Alvarez-Mora MI, Santos C, Carreño-Gago L, Madrigal I, Tejada MI, Martinez F, Izquierdo-Alvarez S, Garcia-Arumi E, Mila M, Rodriguez-Revenga L. Alvarez-Mora MI, et al. Mitochondrion. 2020 May;52:157-162. doi: 10.1016/j.mito.2020.03.004. Epub 2020 Mar 12. Mitochondrion. 2020. PMID: 32173566

4

No increase in the CTG repeat size during transmission from parent with expanded allele: false suspicion of contraction phenomenon.

Goñi Ros N, Sienes Bailo P, González Tarancón R, Martorell Sampol L, Izquierdo Álvarez S. Goñi Ros N, et al. Among authors: izquierdo alvarez s. Adv Lab Med. 2023 Mar 6;4(2):185-194. doi: 10.1515/almed-2022-0079. eCollection 2023 Jun. Adv Lab Med. 2023. PMID: 38075944 Free PMC article.

5

[Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].

González-Pérez J, Izquierdo-Álvarez S, Fuertes-Rodrigo C, Monge-Galindo L, Peña-Segura JL, López-Pisón FJ. González-Pérez J, et al. Med Clin (Barc). 2016 Apr 1;146(7):311-5. doi: 10.1016/j.medcli.2015.11.022. Epub 2016 Jan 6. Med Clin (Barc). 2016. PMID: 26776484 Spanish.

6

A novel variant in the COL4A3 gene: etiology of Alport syndrome type 2 in a 38-year-old male with suspected hereditary kidney disease.

Sienes Bailo P, Bancalero Flores JL, Lahoz Alonso R, Santamaría González M, Gutiérrez Dalmau A, Álvarez de Andrés S, Izquierdo Álvarez S. Sienes Bailo P, et al. Adv Lab Med. 2021 Jul 30;2(3):451-462. doi: 10.1515/almed-2021-0058. eCollection 2021 Aug. Adv Lab Med. 2021. PMID: 37362409 Free PMC article.

7

Incidence of Huntington disease in a northeastern Spanish region: a 13-year retrospective study at tertiary care centre.

Sienes Bailo P, Lahoz R, Sánchez Marín JP, Izquierdo Álvarez S. Sienes Bailo P, et al. BMC Med Genet. 2020 Nov 23;21(1):233. doi: 10.1186/s12881-020-01174-z. BMC Med Genet. 2020. PMID: 33228555 Free PMC article.

8

Management of postanalytical processes in the clinical laboratory according to ISO 15189:2012 Standard requirements: considerations on the review, reporting and release of results.

López Yeste ML, Izquierdo Álvarez S, Pons Mas AR, Álvarez Domínguez L, Marqués García F, Rodríguez MPC, Blanco Font A, Bernabeu Andreu FA, García Álvarez A, Contreras Sanfeliciano T, Pascual Gómez N, Sánchez Gancedo L, Guiñón Muñoz L. López Yeste ML, et al. Adv Lab Med. 2021 Jan 11;2(1):51-70. doi: 10.1515/almed-2020-0110. eCollection 2021 Mar. Adv Lab Med. 2021. PMID: 37359206 Free PMC article.

9

A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years.

Lahoz Alonso R, Sienes Bailo P, Capablo Liesa JL, Álvarez de Andrés S, Bancalero Flores JL, Izquierdo Álvarez S. Lahoz Alonso R, et al. Adv Lab Med. 2020 May 19;1(4):20200033. doi: 10.1515/almed-2020-0033. eCollection 2020 Dec. Adv Lab Med. 2020. PMID: 37360614 Free PMC article.

10

Episodic Vestibulocerebellar Ataxia Associated with a CACNA1G Missense Variant.

Gazulla J, Izquierdo-Alvarez S, Ruiz-Fernández E, Lázaro-Romero A, Berciano J. Gazulla J, et al. Case Rep Neurol. 2021 Jun 11;13(2):347-354. doi: 10.1159/000515974. eCollection 2021 May-Aug. Case Rep Neurol. 2021. PMID: 34248568 Free PMC article.

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