Published in Leuk Res on June 01, 1999
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The risk of new-onset cancer associated with HFE C282Y and H63D mutations: evidence from 87,028 participants. J Cell Mol Med (2016) 0.77
Evidence for the Influence of the Iron Regulatory MHC Class I Molecule HFE on Tumor Progression in Experimental Models and Clinical Populations. Transl Oncogenomics (2014) 0.76
Association Studies of HFE C282Y and H63D Variants with Oral Cancer Risk and Iron Homeostasis Among Whites and Blacks. Cancers (Basel) (2015) 0.75
The evolutionary adaptation of the C282Y mutation to culture and climate during the European Neolithic. Am J Phys Anthropol (2016) 0.75
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol (2001) 2.05
UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer. Br J Cancer (2004) 1.73
Maternal and fetal outcome in women with type 2 versus type 1 diabetes mellitus: a systematic review and metaanalysis. J Clin Endocrinol Metab (2009) 1.61
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Efficacy and safety of fibrin glue and tranexamic acid to prevent postoperative blood loss in total knee arthroplasty: a randomized controlled clinical trial. J Bone Joint Surg Am (2013) 1.59
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Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet (1992) 1.44
A novel GSK-3beta inhibitor reduces Alzheimer's pathology and rescues neuronal loss in vivo. Neurobiol Dis (2009) 1.42
Multicenter study of the multiple organ dysfunction syndrome in intensive care units: the usefulness of Sequential Organ Failure Assessment scores in decision making. Intensive Care Med (2005) 1.39
[Clinical manifestations of myotonic dystrophy: epidemiologic survey]. Med Clin (Barc) (1993) 1.38
Progression of somatic CTG repeat length heterogeneity in the blood cells of myotonic dystrophy patients. Hum Mol Genet (1998) 1.36
The R71G BRCA1 is a founder Spanish mutation and leads to aberrant splicing of the transcript. Hum Mutat (2001) 1.36
Iron overload might increase transplant-related mortality in haematopoietic stem cell transplantation. Bone Marrow Transplant (2002) 1.31
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet (2003) 1.31
Identification of 14 novel mutations in the long isoform of USH2A in Spanish patients with Usher syndrome type II. J Med Genet (2006) 1.27
Impact of CYP2D6 polymorphisms in tamoxifen adjuvant breast cancer treatment. Breast Cancer Res Treat (2009) 1.25
Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy. Br J Cancer (2008) 1.19
A new locus for autosomal recessive retinitis pigmentosa (RP19) maps to 1p13-1p21. Genomics (1997) 1.16
A genotype-directed phase I-IV dose-finding study of irinotecan in combination with fluorouracil/leucovorin as first-line treatment in advanced colorectal cancer. Br J Cancer (2011) 1.15
Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy? Cancer Chemother Pharmacol (2005) 1.13
Aggressive natural killer cell leukaemia/lymphoma in two patients with lethal midline granuloma. Br J Haematol (1994) 1.12
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum Mol Genet (1997) 1.10
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. Clin Genet (2005) 1.09
Meiotic drive at the myotonic dystrophy locus. J Med Genet (1994) 1.08
Insulin requirements throughout pregnancy in women with type 1 diabetes mellitus: three changes of direction. Diabetologia (2009) 1.08
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat (2006) 1.07
Clinical pharmacokinetics of dexketoprofen. Clin Pharmacokinet (2001) 1.07
Comparison of CTG repeat length expansion and clinical progression of myotonic dystrophy over a five year period. J Med Genet (1995) 1.07
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. J Med Genet (2007) 1.05
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa. J Med Genet (2003) 1.04
Evidence against involvement of recoverin in autosomal recessive retinitis pigmentosa in 42 Spanish families. Hum Genet (1995) 1.02
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? Proc Natl Acad Sci U S A (1982) 1.02
Distribution and pattern of BCL-6 mutations throughout the spectrum of B-cell neoplasia. Blood (2000) 0.99
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet (1998) 0.99
Sex-related difference in intergenerational expansion of myotonic dystrophy gene. Lancet (1993) 0.98
Complex patterns of male germline instability and somatic mosaicism in myotonic dystrophy type 1. Eur J Hum Genet (2000) 0.97
Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNA. Am J Hum Genet (1988) 0.97
Prevalence of BRCA1 and BRCA2 Jewish mutations in Spanish breast cancer patients. Br J Cancer (1999) 0.96
Detection of novel mutations in the SMN Tudor domain in type I SMA patients. Neurology (2004) 0.96
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. J Neurol (2005) 0.95
Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects. Neurology (2004) 0.94
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). Ophthalmic Genet (2000) 0.94
Mutations P51U and G122E in retinal transcription factor NRL associated with autosomal dominant and sporadic retinitis pigmentosa. Hum Mutat (2001) 0.92
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies. Clin Genet (2008) 0.91
Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology (2001) 0.91
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa. Eur J Hum Genet (1999) 0.91
Loss of heterozygosity on chromosome 13q12-q14, BRCA-2 mutations and lack of BRCA-2 promoter hypermethylation in sporadic epithelial ovarian tumors. Cancer (2001) 0.90
The 3' ends of the deletions of Spanish delta beta zero-thalassemia and black HPFH 1 and 2 lie within 17 kilobases. Blood (1987) 0.90
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters. Hum Mol Genet (1993) 0.90
Expansion of the myotonic dystrophy gene in Italian and Spanish patients. J Med Genet (1992) 0.90
BRCA2 germ-line mutations in Spanish male breast cancer patients. Ann Oncol (2000) 0.90
Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics. J Med Genet (2003) 0.90
Linkage analysis in Usher syndrome type I (USH1) families from Spain. J Med Genet (1998) 0.89
Distribution of Kaposi's sarcoma herpesvirus sequences among lymphoid malignancies in Italy and Spain. Br J Haematol (1995) 0.88
Role of MTHFR (677, 1298) haplotype in the risk of developing secondary leukemia after treatment of breast cancer and hematological malignancies. Leukemia (2007) 0.88
The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. J Med Genet (2010) 0.88
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats. Am J Med Genet (1996) 0.87
Pharmacokinetics of dexketoprofen trometamol in healthy volunteers after single and repeated oral doses. J Clin Pharmacol (1998) 0.87
Elderly donor kidney grafts into young recipients: results at 5 years. Transplantation (2002) 0.87
Risk of early breastfeeding cessation among symmetrical, small for gestational age infants. Ann Hum Biol (2012) 0.87
Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Hum Genet (1994) 0.87
Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. Pharmacogenomics J (2012) 0.87
CTG trinucleotide repeat variability in identical twins with myotonic dystrophy. Ann Neurol (1994) 0.86
[Hemodynamic and antipyretic effects of paracetamol, metamizol and dexketoprofen in critical patients]. Med Intensiva (2012) 0.86
A genome-wide association study on copy-number variation identifies a 11q11 loss as a candidate susceptibility variant for colorectal cancer. Hum Genet (2013) 0.86
Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene. Haemophilia (2008) 0.86
[Interest in the study of genetic variants of the promoter region of the UGT1A1 gene in neonatal jaundice]. An Esp Pediatr (2002) 0.86
Colorectal cancer and HFE gene mutations. Haematologica (1999) 0.85
CTLA-4 genotype and relapse incidence in patients with acute myeloid leukemia in first complete remission after induction chemotherapy. Leukemia (2008) 0.85
BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families. Ann Oncol (2001) 0.84
[Total enteral nutrition vs. total parenteral nutrition in patients with severe acute pancreatitis]. Rev Esp Enferm Dig (2007) 0.84
Lymphocyte subpopulations in patients with untreated pernicious anaemia. Scand J Haematol (1985) 0.84
Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases. J Med Genet (1996) 0.84
Prevalence of high serum and red cell ferritin levels in HIV-infected patients. Haematologica (1994) 0.84
Allelic variants of the thiopurine S-methyltransferase deficiency in patients with ulcerative colitis and in healthy controls. Am J Gastroenterol (2000) 0.84
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease. Clin Genet (1996) 0.84
Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy. Am J Pathol (1998) 0.84
Methotrexate consolidation treatment according to pharmacogenetics of MTHFR ameliorates event-free survival in childhood acute lymphoblastic leukaemia. Pharmacogenomics J (2011) 0.84
Prenatal diagnosis for risk of spinal muscular atrophy. BJOG (2002) 0.83
Unmasking influenza virus infection in patients attended to in the emergency department. Infection (2004) 0.83
Serum erythropoietin and erythroid activity in vitamin B12 deficiency. Haematologica (1997) 0.83
High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro delta. Br J Haematol (1992) 0.83
Molecular analysis of the six most recurrent mutations in the BRCA1 gene in 87 Spanish breast/ovarian cancer families. Cancer Lett (1998) 0.83
Genetic lesions associated with blastic transformation of polycythemia vera and essential thrombocythemia. Genes Chromosomes Cancer (1997) 0.83
A randomized, double-blind multicentre clinical trial comparing the efficacy of calcium dobesilate with placebo in the treatment of chronic venous disease. Eur J Vasc Endovasc Surg (2007) 0.83
Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population. Hum Genet (1998) 0.83
Anticipation in myotonic dystrophy: a parental-sex-related phenomenon. Neuroepidemiology (1994) 0.82
Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients. Neurology (2002) 0.82
Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain. Blood Cells Mol Dis (2005) 0.82