Published in Br Med J (Clin Res Ed) on June 29, 1985
Improved predictive testing for Huntington disease by using three linked DNA markers. Am J Hum Genet (1988) 2.28
Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea. J Med Genet (1988) 1.33
The prenatal exclusion test for Huntington's disease: experience in the west of Scotland, 1986-1993. J Med Genet (1995) 1.16
Predictive testing for Huntington's disease. BMJ (1989) 1.08
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres. Eur J Hum Genet (2011) 1.03
Considerations in using linkage analysis as a presymptomatic test for Huntington's disease. J Med Genet (1988) 0.83
Exclusion testing in pregnancy for Huntington's disease. J Med Genet (1990) 0.82
Genetic markers in Huntington's disease. West J Med (1987) 0.75
Decline in the predicted incidence of Huntington's chorea associated with systematic genetic counselling and family support. Lancet (1981) 1.64
A genetic register for Huntington's chorea in South Wales. J Med Genet (1982) 1.56
A genetic marker for Huntington's chorea. Br Med J (Clin Res Ed) (1983) 1.38
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57
Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. Nucleic Acids Res (1983) 8.92
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature (1992) 8.85
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet (1993) 5.70
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature (1991) 4.77
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
Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet (1997) 3.83
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
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science (1988) 2.82
The prevention of Huntington's chorea. The Milroy lecture 1985. J R Coll Physicians Lond (1986) 2.74
Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet (1991) 2.65
Papillary thyroid carcinoma associated with papillary renal neoplasia: genetic linkage analysis of a distinct heritable tumor syndrome. J Clin Endocrinol Metab (2000) 2.52
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. J Med Genet (1983) 2.45
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet (1993) 2.42
Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor. Lancet (1972) 2.40
Unstable DNA sequence in myotonic dystrophy. Lancet (1992) 2.36
Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet (1998) 2.31
Huntington's Chorea in South Wales. A genetic and epidemiological study. Clin Genet (1981) 2.31
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum Genet (1986) 2.18
Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. J Med Genet (1983) 2.16
Molecular analysis and clinical correlations of the Huntington's disease mutation. Lancet (1993) 2.15
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet (2000) 2.13
Exclusion testing for Huntington's disease in pregnancy with a closely linked DNA marker. Lancet (1987) 2.09
Adoption and genetic prediction for Huntington's disease. Lancet (1988) 2.09
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet (1987) 2.08
A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet (1996) 2.06
Polycystic kidney disease re-evaluated: a population-based study. Q J Med (1991) 2.05
Linkage disequilibrium in Huntington's disease: an improved localisation for the gene. J Med Genet (1989) 2.05
Congenital myotonic dystrophy in Britain. I. Clinical aspects. Arch Dis Child (1975) 2.04
Correlation between fragment size at D4F104S1 and age at onset or at wheelchair use, with a possible generational effect, accounts for much phenotypic variation in 4q35-facioscapulohumeral muscular dystrophy (FSHD) Hum Mol Genet (1995) 2.02
Problems in genetic prediction for Huntington's disease. Lancet (1989) 2.00
Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region. Genomics (1996) 1.99
Cardiac disease in myotonic dystrophy. Cardiovasc Res (1997) 1.98
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med (1992) 1.95
George Otto Gey. (1899-1970). The HeLa cell and a reappraisal of its origin. Obstet Gynecol (1971) 1.93
Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24. J Med Genet (2002) 1.91
A new DNA marker tightly linked to the fragile X locus (FRAXA). Science (1989) 1.88
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. J Med Genet (1989) 1.87
Huntington's chorea. The basis for long-term prevention. Lancet (1979) 1.87
Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet (1996) 1.83
Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci. Am J Hum Genet (1972) 1.82
Factors influencing age at onset and duration of survival in Huntington's chorea. Ann Hum Genet (1981) 1.79
Screening for Duchenne muscular dystrophy. Arch Dis Child (1989) 1.78
Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. Hum Genet (1984) 1.74
Attitudes of mothers to neonatal screening for Duchenne muscular dystrophy. BMJ (1990) 1.72
Congenital myotonic dystrophy in Britain. II. Genetic basis. Arch Dis Child (1975) 1.71
Huntington disease: no evidence for locus heterogeneity. Genomics (1989) 1.70
Attitudes of subjects at risk and their relatives towards genetic counselling in Huntington's chorea. J Med Genet (1983) 1.67
A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms. J Med Genet (1982) 1.66
Decline in the predicted incidence of Huntington's chorea associated with systematic genetic counselling and family support. Lancet (1981) 1.64
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am J Hum Genet (1991) 1.64
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am J Hum Genet (1989) 1.64
Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin. Hum Mol Genet (1999) 1.59
Predictors of axial and peripheral bone mineral density in healthy children and adolescents, with special attention to the role of puberty. J Pediatr (1993) 1.57
A genetic register for Huntington's chorea in South Wales. J Med Genet (1982) 1.56
Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus. Genomics (1988) 1.55
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma. J Med Genet (1999) 1.55
Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. J Med Genet (1983) 1.54
A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region. Am J Ophthalmol (1998) 1.50
Becker muscular dystrophy: correlation of deletion type with clinical severity. J Med Genet (1990) 1.50
Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees. Mov Disord (1997) 1.49
Mild form of Hunter's syndrome: clinical delineation based on 31 cases. Arch Dis Child (1982) 1.46
Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J Med Genet (1999) 1.45
Congenital dystrophia myotonica. Neurology (1973) 1.45
Genetic testing for familial hypertrophic cardiomyopathy in newborn infants. BMJ (1995) 1.44
Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases. Arch Dis Child (1979) 1.43
Genetic counselling in facioscapulohumeral muscular dystrophy. J Med Genet (1991) 1.42
Sanfilippo A disease in the fetus. J Med Genet (1974) 1.40
Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene. Clin Genet (1986) 1.40
Estimation of age dependent penetrance in facioscapulohumeral muscular dystrophy by minimising ascertainment bias. J Med Genet (1989) 1.39
Selection for presymptomatic testing for Huntington's disease: who decides? J Med Genet (1996) 1.39
Recurrence risk in osteogenesis imperfecta congenita. Lancet (1980) 1.38
A genetic marker for Huntington's chorea. Br Med J (Clin Res Ed) (1983) 1.38
Comparative expression profiling of 40 mouse cytochrome P450 genes in embryonic and adult tissues. Arch Biochem Biophys (2003) 1.37
Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Hum Genet (1985) 1.33
A gene for lymphedema-distichiasis maps to 16q24.3. Am J Hum Genet (1999) 1.32
The apolipoprotein CII gene: subchromosomal localisation and linkage to the myotonic dystrophy locus. Hum Genet (1985) 1.31
X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. Hum Genet (1987) 1.31
Early diagnosis and secondary prevention of Duchenne muscular dystrophy. Arch Dis Child (1989) 1.30
Mapping genetic markers on human chromosome 19 using subchromosomal fragments in somatic cell hybrids. Cytogenet Cell Genet (1986) 1.29
Cerebellar haemangioblastoma and von Hippel-Lindau disease. Brain (1986) 1.29
Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families. Hum Mol Genet (1996) 1.27
A large Turkish kindred with syndactyly type II (synpolydactyly). 1. Field investigation, clinical and pedigree data. J Med Genet (1995) 1.26
Linkage analysis of peripheral neurofibromatosis (Von Recklinghausen disease) and chromosome 19 markers linked to myotonic dystrophy. J Med Genet (1986) 1.26
Genetic linkage between Huntington's disease and the DNA polymorphism G8 in South Wales families. J Med Genet (1985) 1.25
Duchenne muscular dystrophy in Wales: a 15 year study, 1971 to 1986. J Med Genet (1989) 1.24
Implications of diagnostic delay in Duchenne muscular dystrophy. Br Med J (Clin Res Ed) (1983) 1.23