Published in J Med Genet on September 01, 1995
Long CTG tracts from the myotonic dystrophy gene induce deletions and rearrangements during recombination at the APRT locus in CHO cells. Mol Cell Biol (2003) 0.97
Parental age effects, but no evidence for an intrauterine effect in the transmission of myotonic dystrophy type 1. Eur J Hum Genet (2014) 0.79
Frequency of myotonic dystrophy gene carriers in cataract patients. J Med Genet (1996) 0.78
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. Am J Hum Genet (2017) 0.75
A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res (1988) 77.80
Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell (1992) 12.74
Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene. Science (1992) 9.32
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature (1992) 8.85
An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science (1992) 8.20
Cloning of the essential myotonic dystrophy region and mapping of the putative defect. Nature (1992) 4.45
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy. Nature (1992) 4.44
Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet (1991) 2.65
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet (1993) 2.42
Myotonic dystrophy: size- and sex-dependent dynamics of CTG meiotic instability, and somatic mosaicism. Am J Hum Genet (1993) 1.86
Explanation for exclusive maternal origin for congenital form of myotonic dystrophy. Lancet (1993) 1.72
Gonosomal mosaicism in myotonic dystrophy patients: involvement of mitotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet (1994) 1.71
Relationship between parental trinucleotide GCT repeat length and severity of myotonic dystrophy in offspring. JAMA (1993) 1.58
Different sex-dependent constraints in CTG length variation as explanation for congenital myotonic dystrophy. Lancet (1993) 1.52
Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. Hum Mol Genet (1993) 1.44
Influence of sex of the transmitting parent as well as of parental allele size on the CTG expansion in myotonic dystrophy (DM). Am J Hum Genet (1993) 1.28
Myotonic dystrophy. Predictive value of normal results on clinical examination. Brain (1991) 1.24
Intergenerational stability of the myotonic dystrophy protomutation. Hum Mol Genet (1993) 1.19
Effects of the sex of myotonic dystrophy patients on the unstable triplet repeat in their affected offspring. Neurology (1994) 1.08
Sex-related difference in intergenerational expansion of myotonic dystrophy gene. Lancet (1993) 0.98
A case of paternally inherited congenital myotonic dystrophy. J Med Genet (1994) 0.96
Myotonic dystrophy: genetic, clinical, and molecular analysis of patients from 41 Brazilian families. J Med Genet (1995) 0.85
Congenital myotonic dystrophy transmitted from an asymptomatic father with a DM-specific gene. Neurology (1994) 0.82
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (1996) 11.59
Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics (1987) 3.03
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients. Nat Genet (1995) 2.24
Strategies for increasing women participation in community breast cancer screening. Cochrane Database Syst Rev (2001) 2.09
Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol (2001) 2.05
Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology (2002) 1.82
Serum carboxy-terminal propeptide of procollagen type I is a marker of myocardial fibrosis in hypertensive heart disease. Circulation (2000) 1.82
UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer. Br J Cancer (2004) 1.73
Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q. Ann Neurol (1999) 1.65
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet (1997) 1.53
Characteristics of intergenerational contractions of the CTG repeat in myotonic dystrophy. Am J Hum Genet (1994) 1.46
PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology (2003) 1.46
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet (1992) 1.44
[Sleep apnea syndrome and cerebral infarction]. Neurologia (2000) 1.41
[Clinical manifestations of myotonic dystrophy: epidemiologic survey]. Med Clin (Barc) (1993) 1.38
Fine mapping of de novo CMT1A and HNPP rearrangements within CMT1A-REPs evidences two distinct sex-dependent mechanisms and candidate sequences involved in recombination. Hum Mol Genet (1998) 1.38
[Neuropathy associated with arteriosclerosis]. Rev Neurol (1997) 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
Calpainopathy-a survey of mutations and polymorphisms. Am J Hum Genet (1999) 1.31
Mutations in USH2A in Spanish patients with autosomal recessive retinitis pigmentosa: high prevalence and phenotypic variation. J Med Genet (2003) 1.31
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). Brain (1998) 1.30
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
Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet (2005) 1.27
Impact of CYP2D6 polymorphisms in tamoxifen adjuvant breast cancer treatment. Breast Cancer Res Treat (2009) 1.25
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum Genet (1997) 1.24
Diagnostic strategy for familial and sporadic cases of neuropathy associated with 17p11.2 deletion. Muscle Nerve (2001) 1.23
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain (2005) 1.22
Pharmacogenetic prediction of clinical outcome in advanced colorectal cancer patients receiving oxaliplatin/5-fluorouracil as first-line chemotherapy. Br J Cancer (2008) 1.19
Awareness and use of the Ottawa ankle and knee rules in 5 countries: can publication alone be enough to change practice? Ann Emerg Med (2001) 1.19
Cinnarizine-induced parkinsonism: ten years later. Mov Disord (1998) 1.16
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
Association of common copy number variants at the glutathione S-transferase genes and rare novel genomic changes with schizophrenia. Mol Psychiatry (2009) 1.11
Somatic instability of the myotonic dystrophy (CTG)n repeat during human fetal development. Hum Mol Genet (1997) 1.10
Prevalence of essential tremor: a door-to-door survey in bidasoa, spain. Neuroepidemiology (2001) 1.09
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
Peroneal neuropathy after weight loss. J Peripher Nerv Syst (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
Homologous DNA exchanges in humans can be explained by the yeast double-strand break repair model: a study of 17p11.2 rearrangements associated with CMT1A and HNPP. Hum Mol Genet (1999) 1.06
MYO7A mutation screening in Usher syndrome type I patients from diverse origins. J Med Genet (2007) 1.05
The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13. Am J Hum Genet (1995) 1.04
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
Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas. Sci Rep (2013) 1.03
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
A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33. J Med Genet (1998) 0.99
Survival after lung metastasectomy for colorectal cancer: importance of previous liver metastasis as a prognostic factor. Eur J Surg Oncol (2011) 0.98
Interplay between human leukocyte antigen genes and the microbial colonization process of the newborn intestine. Curr Issues Mol Biol (2009) 0.98
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
Prevalence of 2314delG mutation in Spanish patients with Usher syndrome type II (USH2). Ophthalmic Genet (2000) 0.94
Germline mutational dynamics in myotonic dystrophy type 1 males: allele length and age effects. Neurology (2004) 0.94
The discoidin domain receptor 1 as a novel susceptibility gene for schizophrenia. Mol Psychiatry (2007) 0.93
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
Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease. Neurosci Lett (2006) 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
Frequency and stability of the myotonic dystrophy type 1 premutation. Neurology (2001) 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
Expansion of the myotonic dystrophy gene in Italian and Spanish patients. J Med Genet (1992) 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
Peripheral neuropathy associated with polycythemia vera. Neurologia (1996) 0.90
BRCA2 germ-line mutations in Spanish male breast cancer patients. Ann Oncol (2000) 0.90
A haplotype of glycogen synthase kinase 3β is associated with early onset of unipolar major depression. Genes Brain Behav (2010) 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
Meta-analysis of randomized controlled trials comparing different techniques with primary closure for chronic pilonidal sinus. Tech Coloproctol (2014) 0.89
Markers that predict serious bacterial infection in infants under 3 months of age presenting with fever of unknown origin. Arch Dis Child (2009) 0.89
Linkage analysis in Usher syndrome type I (USH1) families from Spain. J Med Genet (1998) 0.89
Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients. Hum Genet (2000) 0.88
Association study of schizophrenia with polymorphisms at six candidate genes. Schizophr Res (2001) 0.88
The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4. Clin Genet (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
Bilateral optic nerve atrophy in myotonic dystrophy. Am J Ophthalmol (2001) 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
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