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1.
New COL6A6 variant detected by whole-exome sequencing is linked to break points in intron 4 and 3'-UTR, deleting exon 5 of RHO, and causing adRP.
Mol Vis
; 21: 857-70, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26321861
2.
The Xenopus alcohol dehydrogenase gene family: characterization and comparative analysis incorporating amphibian and reptilian genomes.
BMC Genomics
; 15: 216, 2014 Mar 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-24649825
3.
Next-generation sequencing-based gene panel tests for the detection of rare variants and hypomorphic alleles associated with primary open-angle glaucoma.
PLoS One
; 19(1): e0282133, 2024.
Artículo
en Inglés
| MEDLINE | ID: mdl-38241218
4.
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells.
Eur J Hum Genet
; 2024 Apr 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38658779
5.
Detection of novel mutations that cause autosomal dominant retinitis pigmentosa in candidate genes by long-range PCR amplification and next-generation sequencing.
Mol Vis
; 19: 654-64, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23559859
6.
Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.
Mol Vis
; 19: 1707-22, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23922489
7.
Clinical pharmacogenomic testing of KRAS, BRAF and EGFR mutations by high resolution melting analysis and ultra-deep pyrosequencing.
BMC Cancer
; 11: 406, 2011 Sep 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-21943394
8.
Three-dimensional structure and enzymatic function of proapoptotic human p53-inducible quinone oxidoreductase PIG3.
J Biol Chem
; 284(25): 17194-17205, 2009 Jun 19.
Artículo
en Inglés
| MEDLINE | ID: mdl-19349281
9.
Detection of genomic variations in BRCA1 and BRCA2 genes by long-range PCR and next-generation sequencing.
J Mol Diagn
; 14(3): 286-93, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22426013
10.
High-resolution melting analysis of the common c.1905+1G>A mutation causing dihydropyrimidine dehydrogenase deficiency and lethal 5-fluorouracil toxicity.
Front Genet
; 3: 312, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23335937
11.
Toward a clinical practice guide in pharmacogenomics testing for functional polymorphisms of drug-metabolizing enzymes. Gene/drug pairs and barriers perceived in Spain.
Front Genet
; 3: 273, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-23233861
12.
Cellular expression and siRNA-mediated interference of rhodopsin cis-acting splicing mutants associated with autosomal dominant retinitis pigmentosa.
Invest Ophthalmol Vis Sci
; 52(6): 3723-9, 2011 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-21357407
13.
Synthesis of enantiopure C3- and C4-hydroxyretinals and their enzymatic reduction by ADH8 from Xenopus laevis.
Org Biomol Chem
; 4(1): 155-64, 2006 Jan 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-16358010
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