Published in Nucleic Acids Res on December 10, 1987
Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouse. Proc Natl Acad Sci U S A (1991) 1.46
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. J Med Genet (1989) 1.30
Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115. J Med Genet (1990) 1.03
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 1. Trends across the clinical groups. J Med Genet (1993) 0.96
Localisation of the endpoints of deletions in the 5' region of the Duchenne gene using a sequence isolated by chromosome jumping. Nucleic Acids Res (1988) 0.83
Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08
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
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature (1986) 6.45
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
Mutation in LDL receptor: Alu-Alu recombination deletes exons encoding transmembrane and cytoplasmic domains. Science (1985) 4.51
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Recombination at the human alpha-globin gene cluster: sequence features and topological constraints. Cell (1987) 3.21
Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis. Cell (1987) 2.83
Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature (1987) 2.67
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
Cytogenetic heterogeneity of translocations associated with Duchenne muscular dystrophy. Clin Genet (1986) 1.38
Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients. Nucleic Acids Res (1987) 1.12
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
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature (1985) 7.34
Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature (1981) 6.18
Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell (1997) 4.38
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature (1990) 3.84
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature (1990) 3.48
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1989) 3.37
International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord (1992) 3.26
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Report of the Committee on the Genetic Constitution of the X and Y Chromosomes. Cytogenet Cell Genet (1985) 3.07
Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. Nature (1991) 3.03
Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature (1996) 2.95
An autosomal transcript in skeletal muscle with homology to dystrophin. Nature (1989) 2.91
The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers. Hum Genet (1984) 2.84
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics (1988) 2.74
Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature (1987) 2.67
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet (1995) 2.59
Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids. Am J Hum Genet (1984) 2.58
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. J Med Genet (1983) 2.45
PDZ domains: targeting signalling molecules to sub-membranous sites. Bioessays (1997) 2.39
Physical mapping studies on the human X chromosome in the region Xq27-Xqter. Genomics (1987) 2.35
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet (1987) 2.08
DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child (1995) 1.98
Instability versus predictability: the molecular diagnosis of myotonic dystrophy. J Med Genet (1992) 1.94
ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins. Trends Biochem Sci (1996) 1.94
Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) (1986) 1.93
Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet (1986) 1.92
A new DNA marker tightly linked to the fragile X locus (FRAXA). Science (1989) 1.88
Immunological studies of yeast nuclear RNA polymerases at the subunit level. J Biol Chem (1980) 1.84
A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. Am J Med Genet (1985) 1.83
Use of a chromosome 21 cloned DNA probe for the analysis of non-disjunction in Down syndrome. Hum Genet (1984) 1.81
Friedreich ataxia: an overview. J Med Genet (2000) 1.79
Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis. Lancet (1995) 1.75
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet (1992) 1.73
Patterns of exon deletions in Duchenne and Becker muscular dystrophy. Hum Genet (1988) 1.73
Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet (1987) 1.68
Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice. Nat Genet (1998) 1.68
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum Mol Genet (1997) 1.67
A cytological map of the human X chromosome--evidence for non-random recombination. Nucleic Acids Res (1984) 1.64
The application of DNA recombinant technology to the analysis of the human genome and genetic disease. Hum Genet (1981) 1.64
Sex chromosome positions in human interphase nuclei as studied by in situ hybridization with chromosome specific DNA probes. Hum Genet (1984) 1.62
Utrophin actin binding domain: analysis of actin binding and cellular targeting. J Cell Sci (1995) 1.61
Maternal uniparental disomy of chromosome 13 in a phenotypically normal child. J Med Genet (1994) 1.60
Precursor arrays for triplet repeat expansion at the fragile X locus. Hum Mol Genet (1994) 1.59
Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication. Hum Mol Genet (1998) 1.58
Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis. Hum Genet (1985) 1.57
Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. J Med Genet (1983) 1.54
Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am J Hum Genet (1994) 1.51
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1990) 1.51
Syntenic organization of the mouse distal chromosome 7 imprinting cluster and the Beckwith-Wiedemann syndrome region in chromosome 11p15.5. Hum Mol Genet (1998) 1.49
MASA syndrome: further clinical delineation and chromosomal localisation. Hum Genet (1989) 1.49
Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction. Arch Neurol (1999) 1.48
Prevention of pathology in mdx mice by expression of utrophin: analysis using an inducible transgenic expression system. Hum Mol Genet (2002) 1.47
Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet (1992) 1.47
Linkage relationships between Retinoschisis, Xg, and a cloned DNA sequence from the distal short arm of the X chromosome. Hum Genet (1983) 1.47
Tissue distribution of the dystrophin-related gene product and expression in the mdx and dy mouse. Proc Natl Acad Sci U S A (1991) 1.46
The occurrence of families of repetitive sequences in a library of cloned cDNA from human lymphocytes. Nucleic Acids Res (1981) 1.45
Genotype prediction in the fragile X syndrome. J Med Genet (1991) 1.45
Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. Genomics (1991) 1.43
A glyceraldehyde-3-phosphate dehydrogenase pseudogene on the short arm of the human X chromosomes defines a multigene family. EMBO J (1984) 1.43
Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer. Gene Ther (2003) 1.41
Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients. EMBO J (1987) 1.40
Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J Med Genet (1993) 1.40
Cloning of the tyrP gene and further characterization of the tyrosine-specific transport system in Escherichia coli K-12. J Bacteriol (1984) 1.39
Bending and fracture of the femoral component in cemented total hip replacement. J Biomed Eng (1992) 1.39
Decreased myocardial nNOS, increased iNOS and abnormal ECGs in mouse models of Duchenne muscular dystrophy. J Mol Cell Cardiol (1999) 1.38
Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet (1999) 1.37
The Mendelian inheritance of a human X chromosome-specific DNA sequence polymorphism and its use in linkage studies of genetic disease. Hum Genet (1982) 1.34
A clinically useful DNA probe closely linked to haemophilia A. Lancet (1984) 1.33
Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Hum Genet (1985) 1.33
Postsynaptic abnormalities at the neuromuscular junctions of utrophin-deficient mice. J Cell Biol (1997) 1.33
Tissue-selective expression of alpha-dystrobrevin is determined by multiple promoters. J Biol Chem (1999) 1.32
The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE. Hum Mol Genet (1993) 1.29
Localization of the mdx mutation within the mouse dystrophin gene. EMBO J (1988) 1.29
A study of genetic linkage heterogeneity in adult polycystic kidney disease. Hum Genet (1987) 1.27
Isoform diversity of dystrobrevin, the murine 87-kDa postsynaptic protein. J Biol Chem (1996) 1.27
Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3. Nucleic Acids Res (1987) 1.26
Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation? Hum Mol Genet (2000) 1.26
Prenatal diagnosis of autosomal dominant polycystic kidney disease with a DNA probe. Lancet (1986) 1.25
Monoclonal antibodies against defined regions of the muscular dystrophy protein, dystrophin. FEBS Lett (1990) 1.24
Linkage of tyrosine hydroxylase to four other markers on the short arm of chromosome 11. Nucleic Acids Res (1986) 1.23
Testing of SHIRPA, a mouse phenotypic assessment protocol, on Dmd(mdx) and Dmd(mdx3cv) dystrophin-deficient mice. Mamm Genome (2000) 1.23
59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands. Neuromuscul Disord (1999) 1.20
Alternative splicing of dystrobrevin regulates the stoichiometry of syntrophin binding to the dystrophin protein complex. Curr Biol (2000) 1.20
Molecular and functional analysis of the utrophin promoter. Nucleic Acids Res (1996) 1.19
Utrophin: a structural and functional comparison to dystrophin. Brain Pathol (1996) 1.18
The DXS423E gene in Xp11.21 escapes X chromosome inactivation. Hum Mol Genet (1995) 1.18
Dystrophin and utrophin influence fiber type composition and post-synaptic membrane structure. Hum Mol Genet (2000) 1.18
Increasing complexity of the dystrophin-associated protein complex. Proc Natl Acad Sci U S A (1994) 1.18
The human SB1.8 gene (DXS423E) encodes a putative chromosome segregation protein conserved in lower eukaryotes and prokaryotes. Hum Mol Genet (1995) 1.17