Published in Clin Genet on August 01, 1979
A clinical and genetic study of Hunter's syndrome. 2. Differences between the mild and severe forms. J Med Genet (1982) 1.66
Mild form of Hunter's syndrome: clinical delineation based on 31 cases. Arch Dis Child (1982) 1.46
Successful noninvasive ventilation and enzyme replacement therapy in an adult patient with morbus hunter. JIMD Rep (2011) 0.80
Papilloedema in association with Hunter's syndrome. Br J Ophthalmol (1983) 0.75
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
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet (1993) 5.70
Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family. Nat Genet (1997) 4.92
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
Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J Med Genet (2001) 3.28
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
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
Huntington's Chorea in South Wales. A genetic and epidemiological study. Clin Genet (1981) 2.31
A clinical and genetic study of campomelic dysplasia. J Med Genet (1995) 2.20
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
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
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
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly. Hum Mol Genet (1999) 2.00
Cardiac disease in myotonic dystrophy. Cardiovasc Res (1997) 1.98
George Otto Gey. (1899-1970). The HeLa cell and a reappraisal of its origin. Obstet Gynecol (1971) 1.93
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
Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology (1998) 1.83
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
Holt-Oram syndrome: a clinical genetic study. J Med Genet (1996) 1.75
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
Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet (1995) 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
Coffin-Lowry syndrome: clinical and molecular features. J Med Genet (2002) 1.60
Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin. Hum Mol Genet (1999) 1.59
A genetic register for Huntington's chorea in South Wales. J Med Genet (1982) 1.56
Changing demography of trisomy 18. Arch Dis Child (1986) 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
Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. J Med Genet (1983) 1.54
Consensus development of a histopathological classification system for chronic prostatic inflammation. BJU Int (2001) 1.52
Craniofrontonasal dysplasia. J Med Genet (1987) 1.52
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
Chronic tubulo-interstitial nephropathy in children with cranioectodermal dysplasia. Pediatr Nephrol (1997) 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
Modulation of glomerular structure and function in murine lupus nephritis by methylprednisolone and cyclophosphamide. J Lab Clin Med (1994) 1.41
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
Genetic prediction and family structure in Huntington's chorea. Br Med J (Clin Res Ed) (1985) 1.38
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet (1987) 1.38
Lethal malformations and perinatal mortality: a 10 year review with comparison of ethnic differences. Br Med J (Clin Res Ed) (1987) 1.37
Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer (2003) 1.33
Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Hum Genet (1985) 1.33
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
Attitudes of Asian families to genetic counselling. J Med Genet (1985) 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
A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus. J Med Genet (1997) 1.25
Duchenne muscular dystrophy in Wales: a 15 year study, 1971 to 1986. J Med Genet (1989) 1.24
High incidence of Meckel's syndrome in Gujarati Indians. J Med Genet (1985) 1.24
Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents. J Med Genet (1996) 1.23
Implications of diagnostic delay in Duchenne muscular dystrophy. Br Med J (Clin Res Ed) (1983) 1.23
Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry (1980) 1.23