Riveiro-Alvarez R - Search Results

1

Attention Deficit Hyperactivity and Autism Spectrum Disorders as the Core Symptoms of AUTS2 Syndrome: Description of Five New Patients and Update of the Frequency of Manifestations and Genotype-Phenotype Correlation.

Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Sanchez-Jimeno C, et al. Among authors: riveiro alvarez r. Genes (Basel). 2021 Aug 30;12(9):1360. doi: 10.3390/genes12091360. Genes (Basel). 2021. PMID: 34573342 Free PMC article. Review.

2

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Mol Vis. 2005 Sep 2;11:705-12. Mol Vis. 2005. PMID: 16163268 Free article.

3

Novel human pathological mutations. Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez A, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Villaverde C, Ayuso C. Riveiro-Alvarez R, et al. Hum Genet. 2007 Jun;121(5):647. Hum Genet. 2007. PMID: 17879437 No abstract available.

4

Frequency of CEP290 c.2991_1655A>G mutation in 175 Spanish families affected with Leber congenital amaurosis and early-onset retinitis pigmentosa.

Vallespin E, Lopez-Martinez MA, Cantalapiedra D, Riveiro-Alvarez R, Aguirre-Lamban J, Avila-Fernandez A, Villaverde C, Trujillo-Tiebas MJ, Ayuso C. Vallespin E, et al. Mol Vis. 2007 Nov 27;13:2160-2. Mol Vis. 2007. PMID: 18079693

5

CERKL mutations and associated phenotypes in seven Spanish families with autosomal recessive retinitis pigmentosa.

Avila-Fernandez A, Riveiro-Alvarez R, Vallespin E, Wilke R, Tapias I, Cantalapiedra D, Aguirre-Lamban J, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Avila-Fernandez A, et al. Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2709-13. doi: 10.1167/iovs.07-0865. Invest Ophthalmol Vis Sci. 2008. PMID: 18515597

6

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

Bustamante-Aragones A, Vallespin E, Rodriguez de Alba M, Trujillo-Tiebas MJ, Gonzalez-Gonzalez C, Diego-Alvarez D, Riveiro-Alvarez R, Lorda-Sanchez I, Ayuso C, Ramos C. Bustamante-Aragones A, et al. Mol Vis. 2008 Aug 4;14:1388-94. Mol Vis. 2008. PMID: 18682814 Free PMC article.

7

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.

Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Lopez-Martinez MA, Aguirre-Lamban J, Garcia-Sandoval B, Vazquez-Fernandez del Pozo S, Cantalapiedra D, Avila-Fernandez A, Baiget M, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4342-50. doi: 10.1167/iovs.09-3418. Epub 2009 Mar 25. Invest Ophthalmol Vis Sci. 2009. PMID: 19324861

8

Identification of a novel deletion in the OA1 gene: report of the first Spanish family with X-linked ocular albinism.

Martinez-Garcia M, Riveiro-Alvarez R, Villaverde-Montero C, Cantalapiedra D, Garcia-Sandoval B, Ayuso C, Trujillo-Tiebas MJ. Martinez-Garcia M, et al. Clin Exp Ophthalmol. 2010 Jul;38(5):489-95. doi: 10.1111/j.1442-9071.2010.02282.x. Clin Exp Ophthalmol. 2010. PMID: 20649618

9

Evaluating a newly developed pharmacogenetic array: screening in a Spanish population.

Almoguera B, Riveiro-Alvarez R, Gomez-Dominguez B, Lopez-Rodriguez R, Dorado P, Vaquero-Lorenzo C, Dal-Ré R, Fernandez-Piqueras J, Llerena A, Abad-Santos F, Ayuso C. Almoguera B, et al. Pharmacogenomics. 2010 Nov;11(11):1619-25. doi: 10.2217/pgs.10.131. Pharmacogenomics. 2010. PMID: 21121779 Free article.

10

Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.

Ávila-Fernández A, Cantalapiedra D, Aller E, Vallespín E, Aguirre-Lambán J, Blanco-Kelly F, Corton M, Riveiro-Álvarez R, Allikmets R, Trujillo-Tiebas MJ, Millán JM, Cremers FP, Ayuso C. Ávila-Fernández A, et al. Mol Vis. 2010 Dec 3;16:2550-8. Mol Vis. 2010. PMID: 21151602 Free PMC article.

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