Published in Bioessays on August 01, 1987
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
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
The human dystrophin gene requires 16 hours to be transcribed and is cotranscriptionally spliced. Nat Genet (1995) 2.76
A comparison of the caffeine halothane muscle contracture test with the molecular genetic diagnosis of malignant hyperthermia. Anesthesiology (1991) 2.67
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
Dystrophin is localized to the plasma membrane of human skeletal muscle fibers by electron-microscopic cytochemical study. Muscle Nerve (1990) 2.41
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
Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Genomics (1989) 1.87
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
Segregation of recessive phenotypes in somatic cell hybrids: role of mitotic recombination, gene inactivation, and chromosome nondisjunction. Mol Cell Biol (1981) 1.80
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
Partial gene duplication as a cause of human disease. Hum Mutat (1992) 1.73
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
Molecular and functional analysis of the muscle-specific promoter region of the Duchenne muscular dystrophy gene. Mol Cell Biol (1990) 1.64
Dystrophin is expressed in mdx skeletal muscle fibers after normal myoblast implantation. Am J Pathol (1989) 1.55
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
Mechanisms of tandem duplication in the Duchenne muscular dystrophy gene include both homologous and nonhomologous intrachromosomal recombination. EMBO J (1991) 1.53
Partial gene duplication in Duchenne and Becker muscular dystrophies. J Med Genet (1988) 1.50
Linkage of genetic markers emt and chr in Chinese hamster cells. Somatic Cell Genet (1980) 1.49
Mapping of four translocation breakpoints within the Duchenne muscular dystrophy gene. Genomics (1989) 1.45
Multipoint linkage analysis and heterogeneity testing in 20 X-linked retinitis pigmentosa families. Genomics (1990) 1.38
Physical separation of hemopoietic stem cells differing in their capacity for self-renewal. J Exp Med (1969) 1.36
Differentiation of Duchenne and Becker muscular dystrophy phenotypes with amino- and carboxy-terminal antisera specific for dystrophin. Am J Hum Genet (1991) 1.30
Localization of the mdx mutation within the mouse dystrophin gene. EMBO J (1988) 1.29
Evidence obtained by induced mutation frequency analysis for functional hemizygosity at the emt locus in CHO cells. Somatic Cell Genet (1979) 1.27
Point mutation in the human dystrophin gene: identification through western blot analysis. Genomics (1991) 1.21
Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene. Am J Hum Genet (1989) 1.17
Linkage analysis in X-linked ocular albinism. Genomics (1991) 1.17
Chromosome loss is responsible for segregation at the HPRT locus in Chinese hamster cell hybrids. Somatic Cell Genet (1977) 1.15
Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia. Genomics (1992) 1.13
Marker segregation without chromosome loss at the emt locus in Chinese hamster cell hybrids. Somatic Cell Genet (1980) 1.11
Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother. J Med Genet (1980) 1.10
Prenatal identification of a girl with a t(X;4)(p21;q35) translocation: molecular characterisation, paternal origin, and association with muscular dystrophy. J Med Genet (1990) 1.09
Dystrophin in frameshift deletion patients with Becker muscular dystrophy. Am J Hum Genet (1992) 1.09
Evidence for the inheritance of silver-stained nucleolus organizer regions. Hum Genet (1978) 1.08
Molecular deletion analysis in Duchenne muscular dystrophy. J Med Genet (1986) 1.02
Moderate-level gene amplification in methotrexate-resistant Chinese hamster ovary cells is accompanied by chromosomal translocations at or near the site of the amplified DHFR gene. Mol Cell Biol (1984) 0.97
Linkage analysis of a large Latin-American family with X-linked retinitis pigmentosa and metallic sheen in the heterozygote carrier. Genomics (1989) 0.97
Immunogold labelling of dystrophin in human muscle, using an antibody to the last 17 amino acids of the C-terminus. Neuromuscul Disord (1991) 0.94
Molecular analysis of X-autosome translocations in females with Duchenne muscular dystrophy. EMBO J (1991) 0.93
Stability of the human dystrophin transcript in muscle. Nucleic Acids Res (1996) 0.93
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
Myogenic regulation of dystrophin gene expression. Br Med Bull (1989) 0.90
Dystrophin is tightly associated with the sarcolemma of mammalian skeletal muscle fibers. Exp Cell Res (1991) 0.89
Myoblast transfer in DMD: problems in the interpretation of efficiency. Muscle Nerve (1992) 0.88
Inherited deletion at Duchenne dystrophy locus in normal male. Lancet (1987) 0.88
Partial trisomy 20 confirmed by gene dosage studies. Am J Med Genet (1979) 0.88
A muscle-specific enhancer within intron 1 of the human dystrophin gene is functionally dependent on single MEF-1/E box and MEF-2/AT-rich sequence motifs. Nucleic Acids Res (1997) 0.88
Identification of a transcriptional enhancer within muscle intron 1 of the human dystrophin gene. Hum Mol Genet (1996) 0.87
Paternal inheritance of translocation chromosomes in a t(X;21) patient with X linked muscular dystrophy. J Med Genet (1986) 0.85
A grandpaternally derived de novo deletion within Xp21 initially presenting in carrier females diagnosed as Kugelberg-Welander syndrome. Am J Med Genet (1988) 0.84
Gene inactivation as a mechanism for the expression of recessive phenotypes. Am J Hum Genet (1989) 0.84
Physical mapping at a potential X-linked retinitis pigmentosa locus (RP3) by pulsed-field gel electrophoresis. Genomics (1991) 0.84
Isolation and characterization of Chinese hamster cell mutants resistant to the cytotoxic effects of chromate. Somatic Cell Genet (1981) 0.84
Mosaicism in amniotic fluid cell cultures. Birth Defects Orig Artic Ser (1977) 0.83
A Canadian collaborative study of mosaicism in amniotic fluid cell cultures. Prenat Diagn (1984) 0.82
Differential activation of the hprt gene on the inactive X chromosome in primary and transformed Chinese hamster cells. Mol Cell Biol (1989) 0.81
Condensation of plasmid DNA with polylysine improves liposome-mediated gene transfer into established and primary muscle cells. Gene Ther (1996) 0.81
Karyotypic heterogeneity in CHO cell lines. Cytogenet Cell Genet (1978) 0.81
The mouse dystrophin enhancer is regulated by MyoD, E-box-binding factors, and by the serum response factor. J Biol Chem (2001) 0.80
ASHG human genome committee report. The human genome project: implications for human genetics. Am J Hum Genet (1991) 0.79
The role of the skeletal muscle ryanodine receptor gene in malignant hyperthermia. Symp Soc Exp Biol (1992) 0.78
The use of selection and counterselection in microcell-mediated transfer of dominant genetic markers. Cytogenet Cell Genet (1981) 0.78
Genomic organization of exons 22 to 25 of the dystrophin gene. Hum Mol Genet (1993) 0.77
Dystrophin isoforms DP71 and DP427 have distinct roles in myogenic cells. Muscle Nerve (1999) 0.77
Chromosome replication patterns in an established cell line (CHO). Cytogenet Cell Genet (1977) 0.77
Dystrophin: the long and short of it. J Clin Invest (1994) 0.76
Chromosome abnormalities: a major cause of birth defects, stillbirth and spontaneous abortion. Can Med Assoc J (1977) 0.76
Transfection of cultured myoblasts in high serum concentration with DODAC:DOPE liposomes. Gene Ther (1998) 0.76
The era of genetic medicine. CMAJ (1993) 0.75
Activation of the hprt gene on the inactive X chromosome in transformed diploid female Chinese hamster cells. J Cell Sci (1989) 0.75
Analysis of an X-autosome translocation responsible for X-linked muscular dystrophy. Cold Spring Harb Symp Quant Biol (1986) 0.75
A (2;8) translocation, 46 chromosomes. Repository identification No. GM-327. Cytogenet Cell Genet (1977) 0.75
Somatic events unmask recessive cancer genes to initiate malignancy. J Cell Biochem (1986) 0.75
The DMD gene promoter: a potential role in gene therapy. Adv Exp Med Biol (1990) 0.75
Lithium fluoride thermoluminescence dosimetry. Radiology (1966) 0.75
Autosomal imbalance with a near-normal phenotype: the small effect of trisomy for the short arm of chromosome 18. Birth Defects Orig Artic Ser (1978) 0.75
A report on a family with a (1;2) translocation: cytologic and linkage analysis. Cytogenet Cell Genet (1976) 0.75
Frameshift duplication resulting in truncated dystrophin in a patient with Duchenne muscular dystrophy. Hum Mutat (1992) 0.75
A report on a family with a (1;2) translocation: cytologic and linkage analysis. Birth Defects Orig Artic Ser (1976) 0.75
Expression of the dystrophin isoform Dp71 in differentiating human fetal myogenic cultures. Hum Mol Genet (1996) 0.75