Published in J Med Genet on December 01, 1986
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Partial gene duplication in Duchenne and Becker muscular dystrophies. J Med Genet (1988) 1.50
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Partial gene duplication involving exon-Alu interchange results in lipoprotein lipase deficiency. Am J Hum Genet (1990) 1.31
Gene deletions in X-linked muscular dystrophy. Am J Hum Genet (1989) 1.29
Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome. J Med Genet (1988) 1.02
Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy. J Med Genet (1986) 0.92
Analysis of RFLPs and DNA deletions in the Chinese Duchenne muscular dystrophy gene. J Med Genet (1991) 0.75
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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
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A (1985) 5.50
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome. Am J Hum Genet (1985) 3.83
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature (1986) 3.62
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Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science (1984) 1.85
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Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Hum Genet (1985) 1.33
The use of flanking markers in prediction for Duchenne muscular dystrophy. Arch Dis Child (1986) 1.19
Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion. Clin Genet (1985) 1.13
Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion. J Pediatr (1986) 1.11
Cytologic and molecular analysis of 46,XXq- cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center. Hum Genet (1983) 1.05
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. J Med Genet (1986) 1.04
Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome. Clin Genet (1986) 1.04
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
Molecular cloning and characterization of the human double-stranded RNA-activated protein kinase induced by interferon. Cell (1990) 7.12
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
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Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet (1997) 4.29
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Forkhead transcription factor FKHR-L1 modulates cytokine-dependent transcriptional regulation of p27(KIP1). Mol Cell Biol (2000) 3.93
The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature (1988) 3.85
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature (1986) 3.62
Actin-like filaments in the cleavage furrow of newt egg. Exp Cell Res (1971) 3.53
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 human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat Genet (1995) 2.76
The prevention of Huntington's chorea. The Milroy lecture 1985. J R Coll Physicians Lond (1986) 2.74
A comparison of the caffeine halothane muscle contracture test with the molecular genetic diagnosis of malignant hyperthermia. Anesthesiology (1991) 2.67
Genetic risks for children of women with myotonic dystrophy. Am J Hum Genet (1991) 2.65
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet (1998) 2.56
A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature (1987) 2.55
Physical separation of hemopoietic stem cells from cells forming colonies in culture. J Cell Physiol (1969) 2.46
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
Dystrophin is localized to the plasma membrane of human skeletal muscle fibers by electron-microscopic cytochemical study. Muscle Nerve (1990) 2.41
Early-onset dystrophia myotonica. Evidence supporting a maternal environmental factor. Lancet (1972) 2.40
Unstable DNA sequence in myotonic dystrophy. Lancet (1992) 2.36
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Hardy-Weinberg quality control. Ann Hum Genet (1999) 2.22
Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am J Hum Genet (1990) 2.20
Ryanodine receptor gene is a candidate for predisposition to malignant hyperthermia. Nature (1990) 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
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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
The complex nature of constitutional de novo apparently balanced translocations in patients presenting with abnormal phenotypes. J Med Genet (2005) 1.94
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A new DNA marker tightly linked to the fragile X locus (FRAXA). Science (1989) 1.88
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Genomics (1989) 1.87
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II. Guidelines for genetic counselling. J Med Genet (1989) 1.87
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Chromosome stability in CHO cells. Somatic Cell Genet (1977) 1.86
Duchenne muscular dystrophy involving translocation of the dmd gene next to ribosomal RNA genes. Science (1984) 1.85
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
Somatic reversion/suppression in Duchenne muscular dystrophy (DMD): evidence supporting a frame-restoring mechanism in rare dystrophin-positive fibers. Am J Hum Genet (1992) 1.81
Segregation of recessive phenotypes in somatic cell hybrids: role of mitotic recombination, gene inactivation, and chromosome nondisjunction. Mol Cell Biol (1981) 1.80
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
A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics (1991) 1.77
Karyotyping. Methods Enzymol (1979) 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
Partial gene duplication as a cause of human disease. Hum Mutat (1992) 1.73
Attitudes of mothers to neonatal screening for Duchenne muscular dystrophy. BMJ (1990) 1.72
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Development of antibodies to unprotected glycosylation sites on recombinant human GM-CSF. Lancet (1990) 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
Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome. Hum Genet (1984) 1.64
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
Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene. Mol Cell Biol (1990) 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
Isolation of human cDNAs for asparagine synthetase and expression in Jensen rat sarcoma cells. Mol Cell Biol (1987) 1.61
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. Am J Hum Genet (1990) 1.60
Functional inactivation of bacteriophage lambda morphogenetic gene in RNA. Nature (1975) 1.60
Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin. Hum Mol Genet (1999) 1.59
Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. Hum Mol Genet (2001) 1.58
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
Dystrophin is expressed in mdx skeletal muscle fibers after normal myoblast implantation. Am J Pathol (1989) 1.55
The phenotypic manifestations of interstitial duplications of proximal 15q with special reference to the autistic spectrum disorders. Am J Med Genet (2001) 1.54
Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. J Med Genet (1983) 1.54
Age-related conversion of dystrophin-negative to -positive fiber segments of skeletal but not cardiac muscle fibers in heterozygote mdx mice. J Neuropathol Exp Neurol (1990) 1.53
Molecular analysis of a constitutional X-autosome translocation in a female with muscular dystrophy. Science (1987) 1.53