Published in Science on March 19, 1976
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87
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
Isolation and characterization of a major tandem repeat family from the human X chromosome. Nucleic Acids Res (1983) 2.94
Isolation and characterization of cloned human DNA fragments carrying reiterated sequences common to both autosomes and the X chromosome. Nucleic Acids Res (1981) 2.41
Moderately repeated DNA sequences specific for the short arm of the human Y chromosome are present in XX males and reduced in copy number in an XY female. Nucleic Acids Res (1986) 1.26
Characterization and evolution of a single-copy sequence from the human Y chromosome. Mol Cell Biol (1985) 1.25
Chromosome-specific alpha satellite DNA from the centromere of human chromosome 16. Am J Hum Genet (1989) 1.18
The human Y chromosome. J Med Genet (1985) 1.12
Cloning and characterization of a dispersed, multicopy, X chromosome sequence in Drosophila melanogaster. Proc Natl Acad Sci U S A (1987) 1.07
Molecular genetics of the human X chromosome. J Med Genet (1985) 1.05
Partial purification and characterization of DNA from the human X chromosome. Proc Natl Acad Sci U S A (1979) 1.01
Genomic characterization of large heterochromatic gaps in the human genome assembly. PLoS Comput Biol (2014) 0.97
Direct gene dosage determination in patients with unbalanced chromosomal aberrations using cloned DNA sequences. Application to the regional assignment of the gene for alpha 2(I) procollagen (COLIA2). Am J Hum Genet (1983) 0.86
Quantitative analysis of sex-chromosome mosaicism with X-Y DNA probes. Am J Hum Genet (1986) 0.83
The interactions of the separated strands of satellite DNAs with other DNAs: 1. Conditions for associations of the alpha-satellite of the guinea pig with heterologous double-stranded DNAs. Nucleic Acids Res (1977) 0.75
Selective protection of specific DNA sequences in the heterochromatin of C-banded human Y chromosomes. Am J Hum Genet (1988) 0.75
Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell (1987) 20.27
Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell (1987) 16.01
The innate immune response to bacterial flagellin is mediated by Toll-like receptor 5. Nature (2001) 14.24
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87
The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell (1988) 10.75
The repertoire for pattern recognition of pathogens by the innate immune system is defined by cooperation between toll-like receptors. Proc Natl Acad Sci U S A (2000) 9.67
Dystrophin expression in the mdx mouse restored by stem cell transplantation. Nature (1999) 7.73
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics (1988) 6.51
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature (1986) 6.45
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location. Nature (1986) 6.34
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 98% of DMD/BMD gene deletions by polymerase chain reaction. Hum Genet (1990) 5.16
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes. Nucleic Acids Res (1982) 4.67
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62
Toll-like receptor-2 mediates mycobacteria-induced proinflammatory signaling in macrophages. Proc Natl Acad Sci U S A (1999) 4.49
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Conversion of mdx myofibres from dystrophin-negative to -positive by injection of normal myoblasts. Nature (1989) 4.08
The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. Blood (1998) 3.69
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy. Science (1995) 3.66
Duchenne muscular dystrophy: deficiency of dystrophin at the muscle cell surface. Cell (1988) 3.57
Immunoelectron microscopic localization of dystrophin in myofibres. Nature (1988) 3.37
Origin of the human L1 elements: proposed progenitor genes deduced from a consensus DNA sequence. Genomics (1987) 3.21
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Isolation and characterization of a major tandem repeat family from the human X chromosome. Nucleic Acids Res (1983) 2.94
Exploring the molecular basis for variability among patients with Becker muscular dystrophy: dystrophin gene and protein studies. Am J Hum Genet (1991) 2.79
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. Nature (1988) 2.75
Detailed analysis of the repeat domain of dystrophin reveals four potential hinge segments that may confer flexibility. J Biol Chem (1990) 2.69
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet (1987) 2.64
The structural and functional diversity of dystrophin. Nat Genet (1993) 2.43
Alternative splicing of human dystrophin mRNA generates isoforms at the carboxy terminus. Nature (1989) 2.43
A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4. Proc Natl Acad Sci U S A (2001) 2.42
Isolation and characterization of cloned human DNA fragments carrying reiterated sequences common to both autosomes and the X chromosome. Nucleic Acids Res (1981) 2.41
SV40 recombinants carrying rabbit beta-globin gene coding sequences. Cell (1979) 2.35
The fate of individual myoblasts after transplantation into muscles of DMD patients. Nat Med (1997) 2.24
Molecular profiles of inflammatory myopathies. Neurology (2002) 2.21
Rapid detection of CA polymorphisms in cloned DNA: application to the 5' region of the dystrophin gene. Am J Hum Genet (1991) 2.17
Dystrophin abnormalities in Duchenne/Becker muscular dystrophy. Neuron (1989) 2.13
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12
Localization of dystrophin to postsynaptic regions of central nervous system cortical neurons. Nature (1991) 2.11
Gene redundancy and pharmacological gene therapy: implications for X-linked adrenoleukodystrophy. Nat Med (1998) 2.08
Dystrophin is transcribed in brain from a distant upstream promoter. Proc Natl Acad Sci U S A (1991) 2.04
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04
Cloning and characterization of two human skeletal muscle alpha-actinin genes located on chromosomes 1 and 11. J Biol Chem (1992) 1.91
Long-range genomic map of the Duchenne muscular dystrophy (DMD) gene: isolation and use of J66 (DXS268), a distal intragenic marker. Genomics (1987) 1.89
Fetal hemoglobin restriction to a few erythrocytes (F cells) in normal human adults. Science (1975) 1.85
The introduction of radioisotopes into RNA by methylation in vitro. Biochim Biophys Acta (1967) 1.84
Alkaline Phosphatase in Human Sera and Placentae: Starch gel electrophoresis reveals many phosphatase components including a polymorphism in placentae. Science (1961) 1.84
Statistical analysis of MPSS measurements: application to the study of LPS-activated macrophage gene expression. Proc Natl Acad Sci U S A (2005) 1.84
Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein. J Cell Biol (2000) 1.82
Improved diagnosis of Becker muscular dystrophy by dystrophin testing. Neurology (1989) 1.81
Hemoglobin biosynthesis in murine virus-induced leukemic cells in vitro: structure and amounts of globin chains produced. Blood (1972) 1.81
Subcellular fractionation of dystrophin to the triads of skeletal muscle. Nature (1988) 1.81
Direct method for prenatal diagnosis and carrier detection in Duchenne/Becker muscular dystrophy using the entire dystrophin cDNA. Am J Med Genet (1988) 1.80
An Asian-Native American paternal lineage identified by RPS4Y resequencing and by microsatellite haplotyping. Ann Hum Genet (1999) 1.78
Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability. Proc Natl Acad Sci U S A (1980) 1.71
Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol (2001) 1.71
Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science (1987) 1.66
Syntrophin binds to an alternatively spliced exon of dystrophin. J Cell Biol (1995) 1.65
Immunolocalization and developmental expression of dystrophin related protein in skeletal muscle. Neuromuscul Disord (1991) 1.65
Low HLA-C expression at cell surfaces correlates with increased turnover of heavy chain mRNA. J Exp Med (1995) 1.63
Fetal hemoglobin levels in sickle cell disease and normal individuals are partially controlled by an X-linked gene located at Xp22.2. Blood (1992) 1.62
Identification of a chromosome 6-encoded dystrophin-related protein. J Biol Chem (1990) 1.60
The subcellular distribution of dystrophin in mouse skeletal, cardiac, and smooth muscle. J Cell Biol (1991) 1.59
Individual variation in the production and survival of F cells in sickle-cell disease. N Engl J Med (1978) 1.59
Pharmacological induction of peroxisomes in peroxisome biogenesis disorders. Ann Neurol (2000) 1.59
Dystrophies and heart disease. Curr Opin Cardiol (1997) 1.58
Primary adhalin deficiency as a cause of muscular dystrophy in patients with normal dystrophin. Ann Neurol (1995) 1.58
Use of formamide in nucleic acid reassociation. Biochemistry (1972) 1.56
5-Azacytidine-induced reactivation of a herpes simplex thymidine kinase gene. Science (1982) 1.56
Caveolin-3 in muscular dystrophy. Hum Mol Genet (1998) 1.55
An alternative dystrophin transcript specific to peripheral nerve. Nat Genet (1993) 1.53
Adrenoleukodystrophy: phenotypic variability and implications for therapy. J Inherit Metab Dis (1992) 1.52
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet (1985) 1.52
Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12. Nat Genet (1994) 1.51
F-cell production in sickle cell anemia: regulation by genes linked to beta-hemoglobin locus. Science (1981) 1.51
The dystrophin associated protein complex in zebrafish. Hum Mol Genet (2003) 1.48
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet (1990) 1.48
Dystrobrevin and dystrophin: an interaction through coiled-coil motifs. Proc Natl Acad Sci U S A (1997) 1.45
Myozenin: an alpha-actinin- and gamma-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci U S A (2001) 1.45
Identification and isolation of transcribed human X chromosome DNA sequences. Nucleic Acids Res (1983) 1.45
Differential membrane localization and intermolecular associations of alpha-dystrobrevin isoforms in skeletal muscle. J Cell Biol (1998) 1.44
Fecal Isolation of Corynebacterium equi from a Foal with Chronic Diarrhea. Can Vet J (1984) 1.43
Isolation of a rat liver delta-aminolevulinate dehydrase (ALAD) cDNA clone: evidence for unequal ALAD gene dosage among inbred mouse strains. Proc Natl Acad Sci U S A (1986) 1.40
Dystrophin diagnosis: comparison of dystrophin abnormalities by immunofluorescence and immunoblot analyses. Proc Natl Acad Sci U S A (1989) 1.40
Clinical use of a concomitant boost technique using a gypsum compensator. Int J Radiat Oncol Biol Phys (1994) 1.39
Recognition and destruction of Bacillus Calmette-Guerin-infected human monocytes. J Exp Med (1993) 1.39
Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy. Hum Mol Genet (1996) 1.39
A familial centric chromosome fragment. Cytogenetics (1965) 1.38
Expressed cadherin pseudogenes are localized to the critical region of the spinal muscular atrophy gene. Proc Natl Acad Sci U S A (1995) 1.37
Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets. Am J Hum Genet (1997) 1.37
Identification of a candidate modifying gene for spinal muscular atrophy by comparative genomics. Nat Genet (1998) 1.34
Loss of FilaminC (FLNc) results in severe defects in myogenesis and myotube structure. Mol Cell Biol (2006) 1.34
Electrophoretic and functional heterogeneity of pepsinogen in several species. Nature (1966) 1.34
Mild and severe muscular dystrophy caused by a single gamma-sarcoglycan mutation. Am J Hum Genet (1996) 1.33
Is semen cryopreservation helpful in testicular cancer? Urology (1980) 1.32
Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing. BMC Genet (2001) 1.31