del Río E - Search Results

1

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

2

[Mutations in the BRCA1 gene in young Spanish women with breast cancer].

Díez Gibert O, del Río E, Domènech M, Hernández EM, Sanz J, Brunet J, Alonso MC, Baiget M. Díez Gibert O, et al. Among authors: del rio e. Med Clin (Barc). 1999 Jan 23;112(2):51-4. Med Clin (Barc). 1999. PMID: 10065429 Spanish.

3

[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.

4

Two contiguously located germline BRCA1 mutations in a Spanish early-onset breast cancer family.

Díez O, Domènech M, Cortés J, Del Río E, Brunet J, Alonso MC, Baiget M. Díez O, et al. Among authors: del rio e. Cancer Lett. 1999 Jul 19;142(1):71-3. doi: 10.1016/s0304-3835(99)00155-x. Cancer Lett. 1999. PMID: 10424783

5

BRCA1 mutation analysis in 83 Spanish breast and breast/ovarian cancer families.

Díez O, Cortés J, Domènech M, Brunet J, Del Río E, Pericay C, Sanz J, Alonso C, Baiget M. Díez O, et al. Among authors: del rio e. Int J Cancer. 1999 Nov 12;83(4):465-9. doi: 10.1002/(sici)1097-0215(19991112)83:4<465::aid-ijc5>3.0.co;2-4. Int J Cancer. 1999. PMID: 10508480 Free article.

6

BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families.

Campos B, Diez O, Domènech M, Baena M, Pericay C, Balmaña J, del Rio E, Sanz J, Alonso C, Baiget M. Campos B, et al. Among authors: del rio e. Ann Oncol. 2001 Dec;12(12):1699-703. doi: 10.1023/a:1013517313008. Ann Oncol. 2001. PMID: 11843247 Free article.

7

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

8

Identification of a novel R552O mutation in exon 13 of the beta-subunit of rod phosphodiesterase gene in a Spanish family with autosomal recessive retinitis pigmentosa.

Valverde D, Baiget M, Seminago R, del Rio E, García-Sandoval B, del Rio T, Bayés M, Balcells S, Martínez A, Grinberg D, Ayuso C. Valverde D, et al. Among authors: del rio t, del rio e. Hum Mutat. 1996;8(4):393-4. doi: 10.1002/humu.1380080403. Hum Mutat. 1996. PMID: 8956055 No abstract available.

9

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

10

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.

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