Molecular genetics as a diagnostic service.

A general diagram of the human genome. J Med Genet (1990) 0.75

Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet (1987) 2.08

Demand for DNA probe testing in three genetic centres in Britain (August 1986 to July 1987). J Med Genet (1989) 1.95

Guidelines for DNA banking. Report of the Clinical Genetics Society working party on DNA banking. J Med Genet (1989) 1.91

The new genetics: will it pay its way? Lancet (1987) 1.81

First-trimester fetal diagnosis for haemoglobinopathies: report on 200 cases. Lancet (1986) 1.42

Molecular genetics in the National Health Service in Britain. J Med Genet (1989) 1.27

Molecular genetics in clinical practice: evolution of a DNA diagnostic service. BMJ (1988) 1.11

Genetic services in the context of DNA probes: what do they cost? J Med Genet (1989) 0.85

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

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 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

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

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

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

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

Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. J Med Genet (1983) 1.54

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

Genetic prediction and family structure in Huntington's chorea. Br Med J (Clin Res Ed) (1985) 1.38

A genetic marker for Huntington's chorea. Br Med J (Clin Res Ed) (1983) 1.38

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

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

Huntington's disease predictive testing: the case for an assessment approach to requests from adolescents. J Med Genet (1996) 1.23

Hereditary distal spinal muscular atrophy with vocal cord paralysis. J Neurol Neurosurg Psychiatry (1980) 1.23

The natural history of congenital myotonic dystrophy: mortality and long term clinical aspects. Arch Dis Child (1993) 1.22

X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. Am J Hum Genet (1988) 1.21

Localisation of genetic markers and orientation of the linkage group on chromosome 19. Hum Genet (1984) 1.21

Anal abnormalities in childhood myotonic dystrophy--a possible source of confusion in child sexual abuse. Arch Dis Child (1992) 1.21

Attitudes of parents of cystic fibrosis children towards neonatal screening and antenatal diagnosis. Clin Genet (1990) 1.20

The use of flanking markers in prediction for Duchenne muscular dystrophy. Arch Dis Child (1986) 1.19

The natural history of the severe form of Hunter's syndrome: a study based on 52 cases. Dev Med Child Neurol (1983) 1.19

Cerebral malaria. Br Med J (1968) 1.18

Mendelian inheritance or transmissible agent? The lesson Kuru and the Australia antigen. J Med Genet (1977) 1.18

Mannosidosis in two brothers: prolonged survival in the severe phenotype. Clin Genet (1982) 1.16

Exclusion of COL2A1 as a candidate gene in a family with Wagner-Stickler syndrome. J Med Genet (1990) 1.16

Paternal origin of the chromosomal deletion resulting in Wolf-Hirschhorn syndrome. J Med Genet (1991) 1.15

An unusual form of familial acrocephalosyndactyly. J Med Genet (1982) 1.15

Psychosocial problems in Hunter's syndrome. Child Care Health Dev (1981) 1.14

Watson syndrome: is it a subtype of type 1 neurofibromatosis? J Med Genet (1991) 1.14

Linkage analysis of myotonic dystrophy and sequences on chromosome 19 using a cloned complement 3 gene probe. J Med Genet (1983) 1.13

Clinical genetics services into the 21st century. Summary of a report of the Clinical Genetics Committee of the Royal College of Physicians. J R Coll Physicians Lond (1997) 1.13

Population based study of late onset cerebellar ataxia in south east Wales. J Neurol Neurosurg Psychiatry (2004) 1.11

A DNA probe, D5 [D4S90] mapping to human chromosome 4p16.3. Nucleic Acids Res (1988) 1.11

Molecular genetics in clinical practice: evolution of a DNA diagnostic service. BMJ (1988) 1.11

Late-onset Huntington's disease: a clinical and molecular study. Age Ageing (1994) 1.10

Presymptomatic detection and prenatal diagnosis for myotonic dystrophy by means of linked DNA markers. J Med Genet (1989) 1.10

Evidence against location of the gene for facioscapulohumeral muscular dystrophy on the distal long arm of chromosome 14. J Neurol Sci (1988) 1.10

Adult polycystic kidney disease and linked RFLPs at the alpha globin locus: a genetic study in the South Wales population. J Med Genet (1987) 1.10