Published in Haematologica on January 01, 2003
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM. BMC Med Genet (2008) 0.81
Frequency of factor VIII intron 1 inversion in a cohort of severe hemophilia A Italian patients. Haematologica (2003) 0.77
A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene. Hum Mutat (2003) 1.61
Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects. Hum Mutat (2003) 1.54
Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale. Clin Neurol Neurosurg (2009) 1.44
Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (2003) 1.40
Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Invest Ophthalmol Vis Sci (2009) 1.33
Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle. Hum Mol Genet (2005) 1.26
Mutation spectrum of EYS in Spanish patients with autosomal recessive retinitis pigmentosa. Hum Mutat (2010) 1.26
Microarray-based mutation analysis of the ABCA4 gene in Spanish patients with Stargardt disease: evidence of a prevalent mutated allele. Mol Vis (2006) 1.21
Irinotecan pharmacogenetics: influence of pharmacodynamic genes. Clin Cancer Res (2008) 1.20
Single nucleotide polymorphism in the 5' tandem repeat sequences of thymidylate synthase gene predicts for response to fluorouracil-based chemotherapy in advanced colorectal cancer patients. Int J Cancer (2004) 1.18
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene. Hum Genet (2008) 1.17
Synaptic defects in type I spinal muscular atrophy in human development. J Pathol (2013) 1.13
Mutational screening of the USH2A gene in Spanish USH patients reveals 23 novel pathogenic mutations. Orphanet J Rare Dis (2011) 1.09
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. Invest Ophthalmol Vis Sci (2007) 1.08
The LCS6 polymorphism in the binding site of let-7 microRNA to the KRAS 3'-untranslated region: its role in the efficacy of anti-EGFR-based therapy in metastatic colorectal cancer patients. Pharmacogenet Genomics (2013) 1.02
Over-representation of two specific haplotypes among chromosomes harbouring BRCA1 mutations. Eur J Hum Genet (2003) 1.02
Copy-number variations in EYS: a significant event in the appearance of arRP. Invest Ophthalmol Vis Sci (2011) 1.01
Relationship between HIV/Highly active antiretroviral therapy (HAART)-associated lipodystrophy syndrome and stavudine-triphosphate intracellular levels in patients with stavudine-based antiretroviral regimens. Clin Infect Dis (2010) 1.00
Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms. Hum Mol Genet (2009) 0.98
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis. Invest Ophthalmol Vis Sci (2009) 0.98
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat (2009) 0.97
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping. Mol Vis (2010) 0.94
Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population. BMC Med Genet (2006) 0.94
Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility genes for monomelic amyotrophy. Neuromuscul Disord (2012) 0.92
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings. Neuromuscul Disord (2011) 0.92
Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function? J Neuropathol Exp Neurol (2005) 0.92
Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol (2005) 0.91
A colorectal cancer genome-wide association study in a Spanish cohort identifies two variants associated with colorectal cancer risk at 1p33 and 8p12. BMC Genomics (2013) 0.91
Genetic counseling program in familial breast cancer: analysis of its effectiveness, cost and cost-effectiveness ratio. Int J Cancer (2004) 0.91
RNA analysis of eight BRCA1 and BRCA2 unclassified variants identified in breast/ovarian cancer families from Spain. Hum Mutat (2003) 0.91
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation. Breast Cancer Res Treat (2010) 0.91
Complexity of phenotype-genotype correlations in Spanish patients with RDH12 mutations. Invest Ophthalmol Vis Sci (2008) 0.90
The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation. J Neuropathol Exp Neurol (2009) 0.90
Early clinical impact of iron overload in stem cell transplantation. A prospective study. Ann Hematol (2007) 0.90
Id4 is deregulated by a t(6;14)(p22;q32) chromosomal translocation in a B-cell lineage acute lymphoblastic leukemia. Haematologica (2003) 0.90
Should gamete donors be tested for spinal muscular atrophy? Fertil Steril (2002) 0.90
Neuronal death is enhanced and begins during foetal development in type I spinal muscular atrophy spinal cord. Brain (2002) 0.89
Prenatal diagnosis in myotonic dystrophy type 1. Thirteen years of experience: implications for reproductive counselling in DM1 families. Prenat Diagn (2007) 0.87
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability. Eur J Hum Genet (2011) 0.86
BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern European populations. Carcinogenesis (2012) 0.86
Clustering of cancer-related mutations in a subset of BRCA1 alleles: a study in the Spanish population. Int J Cancer (2002) 0.86
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population. Orphanet J Rare Dis (2013) 0.86
Serum soluble transferrin receptor concentrations are increased in central obesity. Results from a screening programme for hereditary hemochromatosis in men with hyperferritinemia. Clin Chim Acta (2008) 0.85
Novel mutations in the USH1C gene in Usher syndrome patients. Mol Vis (2010) 0.85
Molecular approach in the study of Alström syndrome: analysis of ten Spanish families. Mol Vis (2012) 0.85
Allelic and genotypic associations of DRD2 TaqI A polymorphism with heroin dependence in Spanish subjects: a case control study. Behav Brain Funct (2007) 0.85
Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser. Thromb Haemost (2010) 0.85
A genetic polymorphism in the coding region of the gastric intrinsic factor gene (GIF) is associated with congenital intrinsic factor deficiency. Hum Mutat (2004) 0.85
Ionizing radiation or mitomycin-induced micronuclei in lymphocytes of BRCA1 or BRCA2 mutation carriers. Breast Cancer Res Treat (2010) 0.84
Association of ITPA gene polymorphisms and the risk of ribavirin-induced anemia in HIV/hepatitis C virus (HCV)-coinfected patients receiving HCV combination therapy. Antimicrob Agents Chemother (2012) 0.84
Association of thymidylate synthase gene polymorphisms with stavudine triphosphate intracellular levels and lipodystrophy. Antimicrob Agents Chemother (2011) 0.84
Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy. Br J Clin Pharmacol (2010) 0.84
Pharmacogenetic study in rectal cancer patients treated with preoperative chemoradiotherapy: polymorphisms in thymidylate synthase, epidermal growth factor receptor, GSTP1, and DNA repair genes. Int J Radiat Oncol Biol Phys (2011) 0.84
Rapid identification of female haemophilia A carriers with deletions in the factor VIII gene by quantitative real-time PCR analysis. Thromb Haemost (2005) 0.84
Association of thymidylate synthase polymorphisms with acute pancreatitis and/or peripheral neuropathy in HIV-infected patients on stavudine-based therapy. PLoS One (2013) 0.84
Detection of hereditary hemochromatosis and biochemical iron overload in primary care: a multicenter case finding study in Spain. Am J Hematol (2010) 0.83
Thymidylate synthase germline polymorphisms in rectal cancer patients treated with neoadjuvant chemoradiotherapy based on 5-fluorouracil. J Cancer Res Clin Oncol (2010) 0.83
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa. Gene (2002) 0.83
Immunoglobulin G fragment C receptor polymorphisms and KRAS mutations: are they useful biomarkers of clinical outcome in advanced colorectal cancer treated with anti-EGFR-based therapy? Cancer Sci (2010) 0.82
Characterization of variant alleles of cytochrome CYP2D6 in a Spanish population. Cell Biochem Funct (2006) 0.82
Genome-wide DNA methylation profiling predicts relapse in childhood B-cell acute lymphoblastic leukaemia. Br J Haematol (2012) 0.82
Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord. Neuromuscul Disord (2005) 0.82
Polymorphisms in genes involved in the mechanism of action of methotrexate: are they associated with outcome in rheumatoid arthritis patients? Pharmacogenomics (2014) 0.82
Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying the SMN1 gene. Hum Mutat (2002) 0.82
Haplotype analysis of the BRCA2 9254delATCAT recurrent mutation in breast/ovarian cancer families from Spain. Hum Mutat (2003) 0.81
Reorganization of Cajal bodies and nucleolar targeting of coilin in motor neurons of type I spinal muscular atrophy. Histochem Cell Biol (2012) 0.81
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy. Orphanet J Rare Dis (2012) 0.81
Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients. Clin Neurol Neurosurg (2007) 0.81
Sequence variations in the retinal fascin FSCN2 gene in a Spanish population with autosomal dominant retinitis pigmentosa or macular degeneration. Mol Vis (2005) 0.81
Polymorphisms of Pyrimidine Pathway Enzymes Encoding Genes and HLA-B*40∶01 Carriage in Stavudine-Associated Lipodystrophy in HIV-Infected Patients. PLoS One (2013) 0.81
Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy in females. J Clin Oncol (2008) 0.80
Downregulation of Bcl-2 proteins in type I spinal muscular atrophy motor neurons during fetal development. J Neuropathol Exp Neurol (2003) 0.80
Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy. Genet Test Mol Biomarkers (2011) 0.80
The relationship between iron overload and clinical characteristics in a Spanish cohort of 100 C282Y homozygous hemochromatosis patients. Ann Hematol (2007) 0.79
Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1,146 newborns from a region of Northern Spain. Genet Test (2004) 0.79
Study of three families with Hb Agrinio [α29(B10)Leu→Pro, CTG>CCG (α2)] in the Spanish population: three homozygous cases. Hemoglobin (2012) 0.79
First report of two independent point factorVIII mutations in a family with haemophilia a: a word of caution for carrier diagnosis. Thromb Haemost (2005) 0.78
High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. Mol Vis (2007) 0.78
Interstitial deletions at the long arm of chromosome 13 may be as common as monosomies in multiple myeloma. A genotypic study. Haematologica (2002) 0.78
Association of CYP2D6 ultrarapid metabolizer genotype with deficient patient satisfaction regarding methadone maintenance treatment. Drug Alcohol Depend (2007) 0.78
Influence of thymidylate synthase and methylenetetrahydrofolate reductase gene polymorphisms on the disease-free survival of breast cancer patients receiving adjuvant 5-fluorouracil/methotrexate-based therapy. Anticancer Drugs (2007) 0.78
Mutations in HAMP and HJV genes and their impact on expression of clinical hemochromatosis in a cohort of 100 Spanish patients homozygous for the C282Y mutation of HFE gene. Ann Hematol (2009) 0.78
Molecular detection of peripheral blood breast cancer mRNA transcripts as a surrogate biomarker for circulating tumor cells. PLoS One (2013) 0.77
Pharmacogenetic analysis in the treatment of Hodgkin lymphoma. Leuk Lymphoma (2013) 0.77
Failure to detect an association between the serotonin transporter gene and borderline personality disorder. J Psychiatr Res (2006) 0.77