Published in Cytogenet Cell Genet on January 01, 1989
Cloning and characterization of a 3-methyladenine DNA glycosylase cDNA from human cells whose gene maps to chromosome 16. Proc Natl Acad Sci U S A (1991) 1.72
Twenty-seven nonoverlapping zinc finger cDNAs from human T cells map to nine different chromosomes with apparent clustering. Am J Hum Genet (1991) 1.27
Localisation of the MRX3 gene for non-specific X linked mental retardation. J Med Genet (1991) 1.27
Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers. J Med Genet (1991) 1.10
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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
Multicolor spectral karyotyping of human chromosomes. Science (1996) 7.65
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet (1993) 5.70
A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature (1985) 5.07
Microsatellite evolution--evidence for directionality and variation in rate between species. Nat Genet (1995) 4.77
Clinical features and natural history of von Hippel-Lindau disease. Q J Med (1990) 4.71
Confirmation of linkage of the loci for myotonic dystrophy and ABH secretion. J Med Genet (1971) 4.70
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
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. Nat Genet (1997) 3.91
Von Hippel-Lindau disease: a genetic study. J Med Genet (1991) 3.61
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis. Nat Genet (1996) 3.51
Translocation of c-ab1 oncogene correlates with the presence of a Philadelphia chromosome in chronic myelocytic leukaemia. Nature (1984) 3.24
A syndrome of severe midface retraction, multiple skull anomalies, clubfeet, and cardiac and renal malformations in sibs. Am J Med Genet (1978) 3.20
Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: a new syndrome. Am J Med Genet (1980) 3.18
Cloned DNA probes regionally mapped to human chromosome 21 and their use in determining the origin of nondisjunction. Nucleic Acids Res (1985) 3.09
Localization of human immunoglobulin kappa light chain variable region genes to the short arm of chromosome 2 by in situ hybridization. Proc Natl Acad Sci U S A (1982) 3.07
Cytogenetic analysis by chromosome painting using DOP-PCR amplified flow-sorted chromosomes. Genes Chromosomes Cancer (1992) 3.03
Clinical aspects of X-linked hypohidrotic ectodermal dysplasia. Arch Dis Child (1987) 2.95
Multicolour spectral karyotyping of mouse chromosomes. Nat Genet (1996) 2.90
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
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science (1988) 2.82
Germline mutations in the Von Hippel-Lindau disease (VHL) gene in families from North America, Europe, and Japan. Hum Mutat (1996) 2.80
The prevention of Huntington's chorea. The Milroy lecture 1985. J R Coll Physicians Lond (1986) 2.74
X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome. Lancet (1966) 2.68
Somatic mutations of the von Hippel-Lindau disease tumour suppressor gene in non-familial clear cell renal carcinoma. Hum Mol Genet (1994) 2.65
Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet (1991) 2.65
The campomelic syndrome: review, report of 17 cases, and follow-up on the currently 17-year-old boy first reported by Maroteaux et al in 1971. Am J Med Genet (1983) 2.53
Telomeres: a diagnosis at the end of the chromosomes. J Med Genet (2003) 2.52
Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype. Hum Mol Genet (1994) 2.52
A chromosomal deletion map of human malformations. Am J Hum Genet (1998) 2.50
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
Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet (1995) 2.34
Huntington's Chorea in South Wales. A genetic and epidemiological study. Clin Genet (1981) 2.31
Clinical and genetic heterogeneity in retinitis pigmentosa. Hum Genet (1990) 2.26
Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet (1991) 2.25
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Characterization of the supernumerary chromosome in cat eye syndrome. Science (1986) 2.19
Studies of a DNA marker (G8) genetically linked to Huntington disease in British families. Hum Genet (1986) 2.18
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. Am J Med Genet (1997) 2.17
Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics (1989) 2.16
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
A chromosomal duplication map of malformations: regions of suspected haplo- and triplolethality--and tolerance of segmental aneuploidy--in humans. Am J Hum Genet (1999) 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
Rapid determination of sequences flanking microsatellites. Nucleic Acids Res (1991) 2.04
Congenital myotonic dystrophy in Britain. I. Clinical aspects. Arch Dis Child (1975) 2.04
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 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
A gene for hereditary multiple exostoses maps to chromosome 19p. Hum Mol Genet (1994) 2.00
Cardiac disease in myotonic dystrophy. Cardiovasc Res (1997) 1.98
Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses. Prenat Diagn (1984) 1.97
Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature (1983) 1.94
Human centromeric DNAs. Hum Genet (1997) 1.94
George Otto Gey. (1899-1970). The HeLa cell and a reappraisal of its origin. Obstet Gynecol (1971) 1.93
Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet (1993) 1.92
Avoidance of anencephalic and spina bifida births by maternal serum-alphafetoprotein screening. Lancet (1978) 1.90
The reduction of anencephalic and spina bifida births by maternal serum alphafetoprotein screening. Br Med Bull (1983) 1.89
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
Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogenetics. J Med Genet (1992) 1.85
A gene for Usher syndrome type I (USH1A) maps to chromosome 14q. Genomics (1992) 1.85
Molecular genetics of neurofibromatosis type 1 (NF1). J Med Genet (1996) 1.83
Clinical and molecular analysis of five inv dup(15) patients. Eur J Hum Genet (1993) 1.82
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
A comparative study of karyotypes of muntjacs by chromosome painting. Chromosoma (1995) 1.81
Dandy-Walker(like) malformation, atrio-ventricular septal defect and a similar pattern of minor anomalies in 2 sisters: a new syndrome? Am J Med Genet (1987) 1.80
A complete comparative chromosome map for the dog, red fox, and human and its integration with canine genetic maps. Genomics (1999) 1.79
Reciprocal chromosome painting among human, aardvark, and elephant (superorder Afrotheria) reveals the likely eutherian ancestral karyotype. Proc Natl Acad Sci U S A (2003) 1.79
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
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? Am J Med Genet (1994) 1.76
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
Gender verification in the Olympics. JAMA (2000) 1.72
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Mutational bias provides a model for the evolution of Huntington's disease and predicts a general increase in disease prevalence. Nat Genet (1994) 1.71
Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. Genomics (1997) 1.70
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
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet (1988) 1.66
High-resolution analysis of human peripheral lymphocyte chromosomes by flow cytometry. Proc Natl Acad Sci U S A (1981) 1.65
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