Molecular analysis and diagnosis of Duchenne muscular dystrophy.

PubWeight™: 0.90‹?›

🔗 View Article (PMID 3294388)

Published in J R Coll Physicians Lond on April 01, 1988

Authors

S M Forrest1, T J Smith, G S Cross, S J Kenwrick, S England, T Flint, K E Davies

Author Affiliations

1: Nuffield Department of Clinical Medicine, John Radcliffe Hospital, Oxford.

Articles citing this

Myopathy presenting as developmental delay and short stature. J R Soc Med (1994) 0.75

Articles by these authors

Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57

Interferon alfa-2b adjuvant therapy of high-risk resected cutaneous melanoma: the Eastern Cooperative Oncology Group Trial EST 1684. J Clin Oncol (1996) 9.68

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

Genetic diversity among Botulinum Neurotoxin-producing clostridial strains. J Bacteriol (2006) 4.75

High- and low-dose interferon alfa-2b in high-risk melanoma: first analysis of intergroup trial E1690/S9111/C9190. J Clin Oncol (2000) 4.60

The site of attachment in human rhinovirus 14 for antiviral agents that inhibit uncoating. Science (1986) 4.40

Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell (1997) 4.38

The tetrodotoxin-resistant sodium channel SNS has a specialized function in pain pathways. Nat Neurosci (1999) 4.35

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13

Hospital and physician volume or specialization and outcomes in cancer treatment: importance in quality of cancer care. J Clin Oncol (2000) 4.01

The three-dimensional structure of canine parvovirus and its functional implications. Science (1991) 3.87

Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature (1990) 3.84

Nucleocapsid and glycoprotein organization in an enveloped virus. Cell (1995) 3.66

Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature (2000) 3.61

Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature (1990) 3.48

2000 update of recommendations for the use of hematopoietic colony-stimulating factors: evidence-based, clinical practice guidelines. American Society of Clinical Oncology Growth Factors Expert Panel. J Clin Oncol (2000) 3.38

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

Potent neutralization of botulinum neurotoxin by recombinant oligoclonal antibody. Proc Natl Acad Sci U S A (2002) 3.16

Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08

Telling the truth about terminal cancer. JAMA (1998) 3.07

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

Chromosome-specific alpha satellite DNA from human chromosome 1: hierarchical structure and genomic organization of a polymorphic domain spanning several hundred kilobase pairs of centromeric DNA. Genomics (1987) 2.77

Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics (1988) 2.74

Antiviral agent blocks breathing of the common cold virus. Proc Natl Acad Sci U S A (1998) 2.71

Efficacy of an elective regional lymph node dissection of 1 to 4 mm thick melanomas for patients 60 years of age and younger. Ann Surg (1996) 2.68

Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature (1987) 2.67

A sensory neuron-specific, proton-gated ion channel. Proc Natl Acad Sci U S A (1998) 2.61

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

Crystal structure of human rhinovirus serotype 1A (HRV1A). J Mol Biol (1989) 2.49

Fibroblasts as sentinel cells. Synthesis of chemokines and regulation of inflammation. Am J Pathol (1997) 2.47

Association of heart rate variability with occupational and environmental exposure to particulate air pollution. Circulation (2001) 2.46

Rabbit macrophage interferons. I. Conditions for biosynthesis by virus-infected and uninfected cells. J Exp Med (1967) 2.46

The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. J Med Genet (1983) 2.45

Factors influencing cosmetic outcome and complication risk after conservative surgery and radiotherapy for early-stage breast carcinoma. J Clin Oncol (1992) 2.42

PDZ domains: targeting signalling molecules to sub-membranous sites. Bioessays (1997) 2.39

Control of cytomegalovirus retinitis using sustained release of intraocular ganciclovir. Arch Ophthalmol (1993) 2.39

A retrospective cohort study of lung cancer and diesel exhaust exposure in railroad workers. Am Rev Respir Dis (1988) 2.38

Physical mapping studies on the human X chromosome in the region Xq27-Xqter. Genomics (1987) 2.35

Structural analysis of a series of antiviral agents complexed with human rhinovirus 14. Proc Natl Acad Sci U S A (1988) 2.30

Comparison of community based service with hospital based service for people with acute, severe psychiatric illness. BMJ (1993) 2.14

Efficacy of 2-cm surgical margins for intermediate-thickness melanomas (1 to 4 mm). Results of a multi-institutional randomized surgical trial. Ann Surg (1993) 2.08

Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet (1987) 2.08

A case-control study of lung cancer and diesel exhaust exposure in railroad workers. Am Rev Respir Dis (1987) 2.07

Encephalopathy and fatty degeneratiof on the viscera in northeastern Thailand. Clinical syndrome and epidemiology. Pediatrics (1971) 2.00

DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child (1995) 1.98

The role of autolysins during vegetative growth of Bacillus subtilis 168. Microbiology (1998) 1.97

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

Genetic and molecular analyses of spontaneous mutants of human rhinovirus 14 that are resistant to an antiviral compound. J Virol (1989) 1.92

A new DNA marker tightly linked to the fragile X locus (FRAXA). Science (1989) 1.88

Human cytochrome P450 CYP2A13: predominant expression in the respiratory tract and its high efficiency metabolic activation of a tobacco-specific carcinogen, 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone. Cancer Res (2000) 1.86

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

Neutralizing human monoclonal antibodies binding multiple serotypes of botulinum neurotoxin. Protein Eng Des Sel (2010) 1.80

Efficacy and cost-effectiveness of autologous bone marrow transplantation in metastatic breast cancer. Estimates using decision analysis while awaiting clinical trial results. JAMA (1992) 1.77

Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis. Lancet (1995) 1.75

Physical and biological properties of dengue-2 virus and associated antigens. J Virol (1970) 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

Localization of the DMDL gene-encoded dystrophin-related protein using a panel of nineteen monoclonal antibodies: presence at neuromuscular junctions, in the sarcolemma of dystrophic skeletal muscle, in vascular and other smooth muscles, and in proliferating brain cell lines. J Cell Biol (1991) 1.72

Pamidronate in prevention of bone complications in metastatic breast cancer: a cost-effectiveness analysis. J Clin Oncol (2000) 1.71

Measuring standards of care for early breast cancer in an insured population. J Clin Oncol (1997) 1.71

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

Efficacy and cost effectiveness of adjuvant chemotherapy in women with node-negative breast cancer. A decision-analysis model. N Engl J Med (1991) 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

Molecular evolution of antibody affinity for sensitive detection of botulinum neurotoxin type A. J Mol Biol (2005) 1.62

Sex chromosome positions in human interphase nuclei as studied by in situ hybridization with chromosome specific DNA probes. Hum Genet (1984) 1.62

Pulmonary function in firefighters: acute changes in ventilatory capacity and their correlates. Br J Ind Med (1979) 1.61

Utrophin actin binding domain: analysis of actin binding and cellular targeting. J Cell Sci (1995) 1.61

Precursor arrays for triplet repeat expansion at the fragile X locus. Hum Mol Genet (1994) 1.59

Linkage studies between polymorphic markers on chromosome 4 and cystic fibrosis. Hum Genet (1985) 1.57

The cloning and sequence analysis of the aspC and tyrB genes from Escherichia coli K12. Comparison of the primary structures of the aspartate aminotransferase and aromatic aminotransferase of E. coli with those of the pig aspartate aminotransferase isoenzymes. Biochem J (1986) 1.55

Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. J Med Genet (1983) 1.54

The efficacy of specimen radiography in evaluating the surgical margins of impalpable breast carcinoma. AJR Am J Roentgenol (1994) 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

Safety, accuracy, and diagnostic yield of needle localization biopsy of the breast performed using local anesthesia. J Am Coll Surg (1994) 1.49

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