Riveiro-Álvarez R - Search Results

1

An evaluation of pipelines for DNA variant detection can guide a reanalysis protocol to increase the diagnostic ratio of genetic diseases.

Romero R, de la Fuente L, Del Pozo-Valero M, Riveiro-Álvarez R, Trujillo-Tiebas MJ, Martín-Mérida I, Ávila-Fernández A, Iancu IF, Perea-Romero I, Núñez-Moreno G, Damián A, Rodilla C, Almoguera B, Cortón M, Ayuso C, Mínguez P. Romero R, et al. Among authors: riveiro alvarez r. NPJ Genom Med. 2022 Jan 27;7(1):7. doi: 10.1038/s41525-021-00278-6. NPJ Genom Med. 2022. PMID: 35087072 Free PMC article.

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

Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray.

Vallespin E, Cantalapiedra D, Riveiro-Alvarez R, Wilke R, Aguirre-Lamban J, Avila-Fernandez A, Lopez-Martinez MA, Gimenez A, Trujillo-Tiebas MJ, Ramos C, Ayuso C. Vallespin E, et al. Invest Ophthalmol Vis Sci. 2007 Dec;48(12):5653-61. doi: 10.1167/iovs.07-0007. Invest Ophthalmol Vis Sci. 2007. PMID: 18055816

5

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

6

Molecular analysis of ABCA4 and CRB1 genes in a Spanish family segregating both Stargardt disease and autosomal recessive retinitis pigmentosa.

Riveiro-Alvarez R, Vallespin E, Wilke R, Garcia-Sandoval B, Cantalapiedra D, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Riveiro-Alvarez R, et al. Mol Vis. 2008 Feb 4;14:262-7. Mol Vis. 2008. PMID: 18334942 Free PMC article.

7

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

8

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.

9

Gene symbol: RS1. Disease: Retinoschisis, X linked juvenile.

Riveiro-Alvarez R, Gimenez A, Trujillo-Tiebas MJ, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Ayuso C. Riveiro-Alvarez R, et al. Hum Genet. 2008 Oct;124(3):307-8. Hum Genet. 2008. PMID: 18846643 No abstract available.

10

Gene symbol: NDP. Disease: Norrie disease.

Riveiro-Alvarez R, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Avila-Fernandez A, Gimenez A, Trujillo-Tiebas MJ, Ayuso C. Riveiro-Alvarez R, et al. Hum Genet. 2008 Oct;124(3):308. Hum Genet. 2008. PMID: 18846645 No abstract available.

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