Published in J Med Genet on February 01, 1995
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Phenotypic variability in familial prion diseases due to the D178N mutation. J Neurol Neurosurg Psychiatry (2005) 1.16
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A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet (1998) 0.99
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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
Prevalence of Parkinson's disease and other types of Parkinsonism. A door-to-door survey in Bidasoa, Spain. J Neurol (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
The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia. Mol Psychiatry (2007) 0.93
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Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease. Neurosci Lett (2006) 0.91
Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology (2001) 0.91
A haplotype of glycogen synthase kinase 3β is associated with early onset of unipolar major depression. Genes Brain Behav (2010) 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
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
BRCA2 germ-line mutations in Spanish male breast cancer patients. Ann Oncol (2000) 0.90
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3. Hum Mol Genet (2012) 0.90
Molecular diagnosis of homozygous myotonic dystrophy in two asymptomatic sisters. Hum Mol Genet (1993) 0.90
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Meta-analysis of randomized controlled trials comparing different techniques with primary closure for chronic pilonidal sinus. Tech Coloproctol (2014) 0.89
Linkage analysis in Usher syndrome type I (USH1) families from Spain. J Med Genet (1998) 0.89
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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
CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population. Mult Scler (2006) 0.88
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Association study of schizophrenia with polymorphisms at six candidate genes. Schizophr Res (2001) 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
Bilateral optic nerve atrophy in myotonic dystrophy. Am J Ophthalmol (2001) 0.87
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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
CTG trinucleotide repeat variability in identical twins with myotonic dystrophy. Ann Neurol (1994) 0.86
Heterosexual transmission of hepatitis C virus and the possible role of coexistent human immunodeficiency virus infection in the index case. A multicentre study of 423 pairings. J Intern Med (1994) 0.86