Published in Haemophilia on July 25, 2008
Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile. Mol Med Rep (2013) 0.77
A homozygous female hemophilia A. Indian J Hum Genet (2012) 0.77
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
Structural basis for the activation of human procaspase-7. Proc Natl Acad Sci U S A (2001) 2.14
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
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Crystal structures of the membrane-binding C2 domain of human coagulation factor V. Nature (1999) 1.58
Prophylaxis in 10 patients with severe haemophilia A and inhibitor: different approaches for different clinical situations. Haemophilia (2009) 1.55
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet (1992) 1.44
[Clinical manifestations of myotonic dystrophy: epidemiologic survey]. Med Clin (Barc) (1993) 1.38
[The 2013 Seville Consensus Document on alternatives to allogenic blood transfusion. An update on the Seville Document]. Rev Esp Anestesiol Reanim (2013) 1.37
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
Simvastatin in the acute phase of ischemic stroke: a safety and efficacy pilot trial. Eur J Neurol (2007) 1.32
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
The 2.0-A crystal structure of tachylectin 5A provides evidence for the common origin of the innate immunity and the blood coagulation systems. Proc Natl Acad Sci U S A (2001) 1.21
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
European study on orthopaedic status of haemophilia patients with inhibitors. Haemophilia (2007) 1.14
High lipoprotein (a), diabetes, and the extent of symptomatic intracranial atherosclerosis. Neurology (2004) 1.13
Methylenetetrahydrofolate reductase gene polymorphisms: genomic predictors of clinical response to fluoropyrimidine-based chemotherapy? Cancer Chemother Pharmacol (2005) 1.13
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
Crystal structure of the human alpha-thrombin-haemadin complex: an exosite II-binding inhibitor. EMBO J (2000) 1.08
Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I. Hum Mutat (2006) 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
Human parvovirus B19 antibodies are less frequent among patients treated with factor IX concentrate inactivated by ultrafiltration: a report from a single Spanish institution. Vox Sang (1998) 1.06
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. J Med Genet (2007) 1.05
Intrascleral schwannoma. Ophthalmologica (1976) 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
Identification of functionally important amino acid residues within the C2-domain of human factor V using alanine-scanning mutagenesis. Biochemistry (2000) 1.00
Malignant solitary fibrous tumour of the orbit: report of a case with 8 years follow-up. Eye (Lond) (2001) 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
The staphylocoagulase family of zymogen activator and adhesion proteins. Cell Mol Life Sci (2004) 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
Left ventricular isovolumic velocity and duration variables calculated from colour-coded myocardial velocity images in normal individuals. Eur J Echocardiogr (2004) 0.96
Detection of novel mutations in the SMN Tudor domain in type I SMA patients. Neurology (2004) 0.96
Consensus perspectives on surgery in haemophilia patients with inhibitors: summary statement. Haemophilia (2004) 0.95
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
Emergency perception and other variables associated with extra-hospital delay in stroke patients in the Maresme region (Spain). Eur J Neurol (2008) 0.91
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
Successful thyroidectomy in a patient with Hermansky-Pudlak syndrome treated with recombinant activated factor VII and platelet concentrates. Blood Coagul Fibrinolysis (2002) 0.91
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
Expansion of the myotonic dystrophy gene in Italian and Spanish patients. J Med Genet (1992) 0.90
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
Development of a new disease-specific quality-of-life questionnaire to adults living with haemophilia. Haemophilia (2004) 0.90
BRCA2 germ-line mutations in Spanish male breast cancer patients. Ann Oncol (2000) 0.90
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters. Hum Mol Genet (1993) 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
Independence of restrictive filling pattern and LV ejection fraction with mortality in heart failure: an individual patient meta-analysis. Eur J Heart Fail (2008) 0.89
Continuous infusion of recombinant activated factor VII during caesarean section delivery in a patient with congenital factor VII deficiency. Haemophilia (2000) 0.88
Osteopontin predicts long-term functional outcome among ischemic stroke patients. J Neurol (2010) 0.88
Prophylactic treatment effects on inhibitor risk: experience in one centre. Haemophilia (2005) 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
Crystal structure of the caspase activator human granzyme B, a proteinase highly specific for an Asp-P1 residue. Biol Chem (2000) 0.88
Pharmacogenomics in colorectal cancer: a genome-wide association study to predict toxicity after 5-fluorouracil or FOLFOX administration. Pharmacogenomics J (2012) 0.87
Prediction of myotonic dystrophy clinical severity based on the number of intragenic [CTG]n trinucleotide repeats. Am J Med Genet (1996) 0.87
Genetic fine localization of the arrestin (S-antigen) gene 4 cM distal from D2S172. Hum Genet (1994) 0.87
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
[Interest in the study of genetic variants of the promoter region of the UGT1A1 gene in neonatal jaundice]. An Esp Pediatr (2002) 0.86
CTG trinucleotide repeat variability in identical twins with myotonic dystrophy. Ann Neurol (1994) 0.86
Colorectal cancer and HFE gene mutations. Haematologica (1999) 0.85
BRCA2 mutation analysis of 87 Spanish breast/ovarian cancer families. Ann Oncol (2001) 0.84
Autosomal recessive retinitis pigmentosa in Spain: evaluation of four genes and two loci involved in the disease. Clin Genet (1996) 0.84
Biomarker level improves the diagnosis of embolic source in ischemic stroke of unknown origin. J Neurol (2012) 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
Allelic variants of the thiopurine S-methyltransferase deficiency in patients with ulcerative colitis and in healthy controls. Am J Gastroenterol (2000) 0.84
Homozygous myotonic dystrophy: clinical and molecular studies of three unrelated cases. J Med Genet (1996) 0.84
Antibodies to factor VIII in plasma of patients with hemophilia A and normal subjects. Ann Hematol (1996) 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
Identification of the 185delAG BRCA1 mutation in a Spanish Gypsy population. Hum Genet (1998) 0.83
High prevalence of the beta-thalassaemia nonsense 37 mutation in Catalonians from the Ebro delta. Br J Haematol (1992) 0.83
C-reactive protein predicts further ischemic events in transient ischemic attack patients. Acta Neurol Scand (2007) 0.83
Presumed melanocytoma of the macula. Arch Ophthalmol (1994) 0.83