Del Rio E - Search Results

1

Clinical and genetic studies in Spanish patients with Usher syndrome type II: description of new mutations and evidence for a lack of genotype--phenotype correlation.

Bernal S, Medà C, Solans T, Ayuso C, Garcia-Sandoval B, Valverde D, Del Rio E, Baiget M. Bernal S, et al. Among authors: del rio e. Clin Genet. 2005 Sep;68(3):204-14. doi: 10.1111/j.1399-0004.2005.00481.x. Clin Genet. 2005. PMID: 16098008

2

Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease.

Bayés M, Martínez-Mir A, Valverde D, del Río E, Vilageliu L, Grinberg D, Balcells S, Ayuso C, Baiget M, Gonzàlez-Duarte R. Bayés M, et al. Among authors: del rio e. Clin Genet. 1996 Nov;50(5):380-7. doi: 10.1111/j.1399-0004.1996.tb02392.x. Clin Genet. 1996. PMID: 9007328 Free article.

3

Analysis of the IRBP gene as a cause of RP in 45 ARRP Spanish families. Autosomal recessive retinitis pigmentosa. Interstitial retinol binding protein. Spanish Multicentric and Multidisciplinary Group for Research into Retinitis Pigmentosa.

Valverde D, Vázquez-Gundín F, del Rio E, Calaf M, Fernández JL, Baiget M. Valverde D, et al. Among authors: del rio e. Ophthalmic Genet. 1998 Dec;19(4):197-202. doi: 10.1076/opge.19.4.197.2312. Ophthalmic Genet. 1998. PMID: 9895244

4

Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation.

Bernal S, Ayuso C, Antiñolo G, Gimenez A, Borrego S, Trujillo MJ, Marcos I, Calaf M, Del Rio E, Baiget M. Bernal S, et al. Among authors: del rio e. J Med Genet. 2003 Jan;40(1):e8. doi: 10.1136/jmg.40.1.e8. J Med Genet. 2003. PMID: 12525556 Free PMC article. No abstract available.

5

Characterization of variant alleles of cytochrome CYP2D6 in a Spanish population.

Menoyo A, del Rio E, Baiget M. Menoyo A, et al. Among authors: del rio e. Cell Biochem Funct. 2006 Sep-Oct;24(5):381-5. doi: 10.1002/cbf.1258. Cell Biochem Funct. 2006. PMID: 16130179

6

[Identification of 2 allelic mutations of the gene of the phosphodiesterase beta subunit in a Spanish family with recessive autosomic retinitis pigmentosa].

Baiget M, Calaf M, Valverde D, del Río E, Reig C, Carballo M, Calvo MT, González-Duarte R. Baiget M, et al. Among authors: del rio e. Med Clin (Barc). 1998 Oct 10;111(11):420-2. Med Clin (Barc). 1998. PMID: 9834916 Spanish.

7

Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.

Cuscó I, Barceló MJ, del Rio E, Martín Y, Hernández-Chico C, Bussaglia E, Baiget M, Tizzano EF. Cuscó I, et al. Among authors: del rio e. Hum Genet. 2001 Mar;108(3):222-9. doi: 10.1007/s004390000452. Hum Genet. 2001. PMID: 11354634

8

DMD carrier detection in a female with mosaic Turner's syndrome.

Baiget M, Tizzano E, Volpini V, del Rio E, Pérez-Vidal T, Gallano P. Baiget M, et al. Among authors: del rio e. J Med Genet. 1991 Mar;28(3):209-10. doi: 10.1136/jmg.28.3.209. J Med Genet. 1991. PMID: 2051460 Free PMC article. No abstract available.

9

Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population.

Díez O, Doménech M, Alonso MC, Brunet J, Sanz J, Cortés J, del Río E, Baiget M. Díez O, et al. Among authors: del rio e. Hum Genet. 1998 Dec;103(6):707-8. doi: 10.1007/s004390050895. Hum Genet. 1998. PMID: 9921907

10

[The identification of a new mutation in the BRCA2 gene by protein truncation analysis in a Spanish family with hereditary breast cancer].

Díez O, del Río E, Domènech M, Sanz J, Cortés J, Brunet J, Alonso Mdel C, Baiget M. Díez O, et al. Among authors: del rio e. Med Clin (Barc). 1999 Feb 13;112(5):179-81. Med Clin (Barc). 1999. PMID: 10091212 Spanish.

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