Published in Am J Hum Genet on June 01, 1993
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Additive influence of maternal and offspring DM-kinase gene CTG repeat lengths in the genesis of congenital myotonic dystrophy. Am J Hum Genet (1994) 0.84
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Influence of the sex of the transmitting grandparent in congenital myotonic dystrophy. J Med Genet (1995) 0.82
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Evidence for genetic anticipation in nodal osteoarthritis. Ann Rheum Dis (1998) 0.80
Tailoring of membrane proteins by alternative splicing of pre-mRNA. Biochemistry (2012) 0.80
Instability of normal (CTG)n alleles in the DM kinase gene. J Med Genet (1997) 0.79
RNA surveillance: molecular approaches in transcript quality control and their implications in clinical diseases. Mol Med (2009) 0.79
Prevalence and correlates of apathy in myotonic dystrophy type 1. BMC Neurol (2015) 0.79
Modelling and inference reveal nonlinear length-dependent suppression of somatic instability for small disease associated alleles in myotonic dystrophy type 1 and Huntington disease. J R Soc Interface (2013) 0.79
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
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Mitochondrial DNA does not appear to influence the congenital onset type of myotonic dystrophy. J Med Genet (1995) 0.79
Frequency of myotonic dystrophy gene carriers in cataract patients. J Med Genet (1996) 0.78
Validation of sensitivity and specificity of tetraplet-primed PCR (TP-PCR) in the molecular diagnosis of myotonic dystrophy type 2 (DM2). J Mol Diagn (2010) 0.78
Oral motor movements and swallowing in patients with myotonic dystrophy type 1. Dysphagia (2013) 0.78
Paternal transmission of congenital myotonic dystrophy. J Med Genet (1994) 0.78
Increased severity over generations of Charcot-Marie-Tooth disease type 1A. J Neurol (2008) 0.78
Male hypogonadism in myotonic dystrophy is related to (CTG)n triplet mutation. J Endocrinol Invest (1994) 0.77
Waiting in anticipation: the genetics of pulmonary arterial hypertension. Am J Respir Crit Care Med (2012) 0.76
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic Dystrophy. Am J Hum Genet (2017) 0.75
Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA). J Neurol (2017) 0.75
Bilateral Adduction Palsy in a Patient with Myotonic Dystrophy Type 1. Exp Neurobiol (2016) 0.75
Modeling Fragile X Syndrome Using Human Pluripotent Stem Cells. Genes (Basel) (2016) 0.75
Assessment of Premutation in Myotonic Dystrophy Type 1 Affected Family Members by TP-PCR and Genetic Counseling. Case Rep Med (2014) 0.75
Identification and characterization of 5' CCG interruptions in complex DMPK expanded alleles. Eur J Hum Genet (2016) 0.75
Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism. Neuropsychiatr Dis Treat (2016) 0.75
Myotonic dystrophy: molecular and cellular consequences of expanded DNA repeats are elusive. J Inherit Metab Dis (1997) 0.75
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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
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science (1991) 7.16
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
Fragile X genotype characterized by an unstable region of DNA. Science (1991) 4.33
Correlation between CTG trinucleotide repeat length and frequency of severe congenital myotonic dystrophy. Nat Genet (1992) 3.39
Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet (1992) 2.85
Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet (1991) 2.65
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Evidence of founder chromosomes in fragile X syndrome. Nat Genet (1992) 2.38
Unstable DNA sequence in myotonic dystrophy. Lancet (1992) 2.36
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am J Hum Genet (1991) 1.64
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Expansion of unstable DNA region in Japanese myotonic dystrophy patients. Lancet (1992) 1.29
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Minimal expression of myotonic dystrophy: a clinical and molecular analysis. J Med Genet (1992) 1.05
Five years experience of predictive testing for myotonic dystrophy using linked DNA markers. Am J Med Genet (1992) 1.02
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57
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Targeted integration of adeno-associated virus (AAV) into human chromosome 19. EMBO J (1991) 6.13
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet (1993) 5.70
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Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain (1988) 4.69
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet (1989) 4.42
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Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child (1987) 2.95
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet (1996) 2.88
A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet (1994) 2.85
Anticipation in myotonic dystrophy: new light on an old problem. Am J Hum Genet (1992) 2.85
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Problems in genetic prediction for Huntington's disease. Lancet (1989) 2.00
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet (1999) 1.98
Cardiac disease in myotonic dystrophy. Cardiovasc Res (1997) 1.98
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A new DNA marker tightly linked to the fragile X locus (FRAXA). Science (1989) 1.88
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