Published in Am J Hum Genet on November 01, 1988
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet (1989) 3.81
Duplicational mutation at the Duchenne muscular dystrophy locus: its frequency, distribution, origin, and phenotypegenotype correlation. Am J Hum Genet (1990) 2.20
Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet (1989) 2.12
Experience and strategy for the molecular testing of Duchenne muscular dystrophy. J Mol Diagn (2005) 1.82
Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridization. Am J Hum Genet (2002) 1.55
Becker muscular dystrophy: correlation of deletion type with clinical severity. J Med Genet (1990) 1.50
Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA. Am J Hum Genet (1988) 1.41
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. J Med Genet (1989) 1.30
Spectrum of small mutations in the dystrophin coding region. Am J Hum Genet (1995) 1.15
Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. Am J Hum Genet (1992) 1.15
Theoretical considerations on germline mosaicism in Duchenne muscular dystrophy. J Med Genet (1990) 1.12
Molecular studies of deletions at the human steroid sulfatase locus. Proc Natl Acad Sci U S A (1989) 1.10
Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome. Am J Hum Genet (1990) 1.05
Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115. J Med Genet (1990) 1.03
Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screening. J Med Genet (1989) 1.02
Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency. J Clin Invest (1995) 0.96
A Two-amino Acid Mutation Encountered in Duchenne Muscular Dystrophy Decreases Stability of the Rod Domain 23 (R23) Spectrin-like Repeat of Dystrophin. J Biol Chem (2009) 0.95
Deletions in the COL4A5 collagen gene in X-linked Alport syndrome. Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression. J Clin Invest (1994) 0.93
Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes. J Med Genet (1990) 0.88
Gene Therapy for Duchenne muscular dystrophy. Expert Opin Orphan Drugs (2015) 0.86
Evidence of Insulin Resistance and Other Metabolic Alterations in Boys with Duchenne or Becker Muscular Dystrophy. Int J Endocrinol (2015) 0.85
Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications. J Med Genet (1992) 0.81
Brother/sister pairs affected with early-onset, progressive muscular dystrophy: molecular studies reveal etiologic heterogeneity. Am J Hum Genet (1989) 0.81
Deletion patterns of Duchenne and Becker muscular dystrophies in Greece. J Med Genet (1995) 0.80
Identification of carriers of Duchenne/Becker muscular dystrophy by a novel method based on detection of junction fragments in the dystrophin gene. J Med Genet (1996) 0.80
Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling. Am J Hum Genet (1989) 0.79
Germline and somatic mosaicism in a female carrier of Hunter disease. J Med Genet (1997) 0.78
ERG phenotype of a dystrophin mutation in heterozygous female carriers of Duchenne muscular dystrophy. J Med Genet (1999) 0.77
Misdiagnosed normal fetus owing to undetected germinal mosaicism for DMD deletion. J Med Genet (1989) 0.77
Dystrophin analysis in the diagnosis of muscular dystrophy. Arch Dis Child (1989) 0.76
A novel splice site mutation in a Becker muscular dystrophy patient. J Med Genet (1996) 0.75
An inherited dystrophin deletion without muscle weakness. J Med Genet (1994) 0.75
Identification of a new DMD gene deletion by ectopic transcript analysis. J Med Genet (1992) 0.75
Extended electrophoresis resolves the dystrophin gene 5.2-kbp cDMD4-5a/HindIII fragment into two bands. Am J Hum Genet (1992) 0.75
RFLPs for Duchenne muscular dystrophy cDNA clones 9 and 10. Am J Hum Genet (1990) 0.75
Informative microsatellite markers allow carrier detection in a Duchenne muscular dystrophy deletion pedigree in the absence of DNA from an affected boy. Am J Hum Genet (1992) 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 complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell (1988) 10.75
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics (1988) 6.51
A deletion hot spot in the Duchenne muscular dystrophy gene. Genomics (1988) 3.18
Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention. Hum Genet (1984) 2.87
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
Localization and cloning of Xp21 deletion breakpoints involved in muscular dystrophy. Hum Genet (1987) 2.64
Germline mosaicism and Duchenne muscular dystrophy mutations. Nature (1987) 2.56
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature (1987) 2.44
Detection and sequence of mutations in the factor VIII gene of haemophiliacs. Nature (1985) 2.30
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature (1987) 2.10
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet (1987) 2.08
Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Nature (1984) 2.07
Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange. Cell (1987) 1.99
Hemophilia A. Detection of molecular defects and of carriers by DNA analysis. N Engl J Med (1985) 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
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
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet (1987) 1.72
Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. N Engl J Med (1987) 1.70
Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). Nucleic Acids Res (1987) 1.62
Germinal mosaicism in Duchenne muscular dystrophy. Hum Genet (1988) 1.54
Characterization of five partial deletions of the factor VIII gene. Proc Natl Acad Sci U S A (1987) 1.45
Deletions of fetal and adult muscle cDNA in Duchenne and Becker muscular dystrophy patients. EMBO J (1987) 1.40
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A (1987) 1.30
Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci U S A (1987) 1.18
Estimation of the male to female ratio of mutation rates from the segregation of X-chromosomal DNA haplotypes in Duchenne muscular dystrophy families. Hum Genet (1986) 1.16
Toward a molecular understanding of ornithine transcarbamylase deficiency. Adv Neurol (1988) 1.13
Familial inheritance of a DXS164 deletion mutation from a heterozygous female. Am J Hum Genet (1987) 1.08
Duchenne muscular dystrophy: high frequency of deletions. Neurology (1988) 1.02
Duchenne and Becker muscular dystrophy mutations: analysis using 2.6 kb of muscle cDNA from the 5' end of the gene. Nucleic Acids Res (1987) 0.96
On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms. Am J Hum Genet (1986) 0.95
Muscular dystrophy: mapping the disease phenotype. Nature (1987) 0.93
Inherited deletion at Duchenne dystrophy locus in normal male. Lancet (1987) 0.88
Origin of new mutations in Duchenne muscular dystrophy. Hum Genet (1986) 0.81
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet (1999) 22.84
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Structure of the receptor for platelet-derived growth factor helps define a family of closely related growth factor receptors. Nature (1986) 7.90
Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand. EMBO J (1987) 7.32
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Multiple, distinct forms of bovine and human protein kinase C suggest diversity in cellular signaling pathways. Science (1986) 6.10
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42Hs, is implicated in actin polymerization. Cell (1996) 5.67
Human genes involved in cholesterol metabolism: chromosomal mapping of the loci for the low density lipoprotein receptor and 3-hydroxy-3-methylglutaryl-coenzyme A reductase with cDNA probes. Proc Natl Acad Sci U S A (1985) 5.33
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Phylogenetic relationships within cation transporter families of Arabidopsis. Plant Physiol (2001) 4.74
cDNA for the human beta 2-adrenergic receptor: a protein with multiple membrane-spanning domains and encoded by a gene whose chromosomal location is shared with that of the receptor for platelet-derived growth factor. Proc Natl Acad Sci U S A (1987) 4.61
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia. Science (1985) 4.29
Mapping of transforming growth factor alpha gene on human chromosome 2 close to the breakpoint of the Burkitt's lymphoma t(2;8) variant translocation. Cancer Res (1985) 4.17
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell (1994) 4.04
The pronatriodilatin gene is located on the distal short arm of human chromosome 1 and on mouse chromosome 4. Am J Hum Genet (1985) 4.01
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
Radioimmunoassay of cyclic AMP and cyclic GMP. Adv Cyclic Nucleotide Res (1979) 3.54
Cloning, sequencing, and expression of the gene coding for the human platelet alpha 2-adrenergic receptor. Science (1987) 3.47
Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders. Genet Test (1999) 3.42
An intronless gene encoding a potential member of the family of receptors coupled to guanine nucleotide regulatory proteins. Nature (1987) 3.33
Molecular characterization and chromosomal mapping of melanoma growth stimulatory activity, a growth factor structurally related to beta-thromboglobulin. EMBO J (1988) 3.26
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Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A (1982) 3.11
Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion. Pediatrics (1978) 3.04
Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study. Am J Hum Genet (2007) 2.91
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A system of nomenclature for band patterns of mouse chromosomes. Chromosoma (1973) 2.87
Random X inactivation resulting in mosaic nullisomy of region Xp21.1----p21.3 associated with heterozygosity for ornithine transcarbamylase deficiency and for chronic granulomatous disease. Cytogenet Cell Genet (1984) 2.82
The neu gene: an erbB-homologous gene distinct from and unlinked to the gene encoding the EGF receptor. Science (1985) 2.80
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CDPKs - a kinase for every Ca2+ signal? Trends Plant Sci (2000) 2.66
The human U1-70K snRNP protein: cDNA cloning, chromosomal localization, expression, alternative splicing and RNA-binding. Nucleic Acids Res (1987) 2.57
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Structure and functional expression of the human macrophage inflammatory protein 1 alpha/RANTES receptor. J Exp Med (1993) 2.49
Molecular analysis and chromosomal mapping of amplified genes isolated from a transformed mouse 3T3 cell line. Somat Cell Mol Genet (1987) 2.48
Quinacrine mustard fluorescence of human chromosomes: characterization of unusual translocations. Am J Hum Genet (1972) 2.45
Rett syndrome and beyond: recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am J Hum Genet (1999) 2.42
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Cloning, mapping, and characterization of activated leukocyte-cell adhesion molecule (ALCAM), a CD6 ligand. J Exp Med (1995) 2.24
Molecular analysis of the cDNA for human SPARC/osteonectin/BM-40: sequence, expression, and localization of the gene to chromosome 5q31-q33. Genomics (1988) 2.21
Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes. Genomics (1988) 2.20
Genetic and cytogenetic localisation of the homeo box containing genes on mouse chromosome 6 and human chromosome 7. EMBO J (1986) 2.19
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p48 Activates a UV-damaged-DNA binding factor and is defective in xeroderma pigmentosum group E cells that lack binding activity. Mol Cell Biol (1998) 2.13
Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7. Genomics (1988) 2.12
Toso, a cell surface, specific regulator of Fas-induced apoptosis in T cells. Immunity (1998) 2.11
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature (1987) 2.10
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Assignment of first random restriction fragment length polymorphism (RFLP) locus ((D14S1) to a region of human chromosome 14. Am J Hum Genet (1982) 2.03
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