Published in Genomics on February 01, 1988
Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. Nucleic Acids Res (1988) 9.94
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
Becker muscular dystrophy: correlation of deletion type with clinical severity. J Med Genet (1990) 1.50
Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy. Am J Hum Genet (1990) 1.48
Complementary DNA probes for the Duchenne muscular dystrophy locus demonstrate a previously undetectable deletion in a patient with dystrophic myopathy, glycerol kinase deficiency, and congenital adrenal hypoplasia. J Clin Invest (1989) 1.30
Correlation of clinical and deletion data in Duchenne and Becker muscular dystrophy. J Med Genet (1989) 1.30
Gene deletions in X-linked muscular dystrophy. Am J Hum Genet (1989) 1.29
Different mosaicism frequencies for proximal and distal Duchenne muscular dystrophy (DMD) mutations indicate difference in etiology and recurrence risk. Am J Hum Genet (1992) 1.21
Evidence for mutation by unequal sister chromatid exchange in the Duchenne muscular dystrophy gene. Am J Hum Genet (1989) 1.17
High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization. Nucleic Acids Res (1989) 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
Nonradioactive assay for new microsatellite polymorphisms at the 5' end of the dystrophin gene, and estimation of intragenic recombination. Am J Hum Genet (1991) 1.13
Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients. J Med Genet (1992) 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
Visualization of individual DNA loops and a map of loop domains in the human dystrophin gene. Nucleic Acids Res (2004) 0.95
Molecular analysis of insertion/deletion mutations in protein 4.1 in elliptocytosis. II. Determination of molecular genetic origins of rearrangements. J Clin Invest (1990) 0.91
Becker muscular dystrophy patient with a large intragenic dystrophin deletion: implications for functional minigenes and gene therapy. J Med Genet (1991) 0.90
Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes. J Med Genet (1990) 0.88
Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products. Nucleic Acids Res (1991) 0.86
Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field. J Inherit Metab Dis (1989) 0.84
Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21. Am J Hum Genet (1992) 0.83
Deletion patterns of Duchenne and Becker muscular dystrophies in Greece. J Med Genet (1995) 0.80
Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy. J Med Genet (1991) 0.78
A new polymorphism for the dystrophin intragenic probe P20 [DXS269] using BstX1. Nucleic Acids Res (1989) 0.75
P9 (DXYS75) detects a VNTR-type RFLP in the pseudoautosomal region. Nucleic Acids Res (1990) 0.75
X linked or autosomal recessive? A new approach to an old problem. J Med Genet (1989) 0.75
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature (1993) 7.39
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features. J Med Genet (2004) 5.76
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
Infectivity of blood seropositive for hepatitis C virus antibodies. Lancet (1990) 4.99
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Down's syndrome births and pregnancy terminations in 1989 to 1993: preliminary findings. Br J Obstet Gynaecol (1995) 3.93
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
Estimating Y chromosome specific microsatellite mutation frequencies using deep rooting pedigrees. Hum Mol Genet (1997) 3.78
BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients. Nat Genet (1997) 3.68
Technique for identifying Y chromosomes in human interphase nuclei. Nature (1970) 3.64
Uptake of cystic fibrosis testing in primary care: supply push or demand pull? BMJ (1993) 3.47
A one-tube quantitative HIV-1 RNA NASBA nucleic acid amplification assay using electrochemiluminescent (ECL) labelled probes. J Virol Methods (1994) 3.13
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy. Hum Genet (1985) 3.08
Automated comparative sequence analysis identifies mutations in 89% of NF1 patients and confirms a mutation cluster in exons 11-17 distinct from the GAP related domain. J Med Genet (2004) 2.83
Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science (1988) 2.82
WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma. Hum Mol Genet (1998) 2.77
EAA/EMQN best practice guidelines for molecular diagnosis of y-chromosomal microdeletions. State of the art 2004. Int J Androl (2004) 2.70
Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents. J Med Genet (2005) 2.60
CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet (2001) 2.51
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul Disord (2011) 2.47
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature (1987) 2.44
Amniotic-fluid acetylcholinesterase as a possible diagnostic test for neural-tube defects in early pregnancy. Lancet (1979) 2.42
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet (1995) 2.40
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The beta2-microglobulin gene is on chromosome 15 and not in the HL-A region. Nature (1975) 2.29
Differential staining of human and mouse chromosomes in interspecific cell hybrids. Nature (1974) 2.28
Quantification of HIV-1 RNA in plasma using NASBA during HIV-1 primary infection. J Virol Methods (1993) 2.24
The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation? FEBS Lett (2000) 2.24
The X chromosome shows less genetic variation at restriction sites than the autosomes. Am J Hum Genet (1986) 2.22
Analysis of national register of Down's syndrome in England and Wales: trends in prenatal diagnosis, 1989-91. BMJ (1993) 2.21
Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome. Lancet (1993) 2.20
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12
Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome. Nat Genet (1994) 2.12
Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology (1989) 2.12
Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet (1989) 2.11
Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet (1993) 2.08
Results of first year (1989) of a national register of Down's syndrome in England and Wales. BMJ (1991) 2.07
Antenatal screening in Oxford for fetal neural tube defects. Br J Obstet Gynaecol (1979) 2.06
Two cases of X/autosome translocation in females with incontinentia pigmenti. Hum Genet (1985) 2.05
Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet (2005) 1.96
Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch). Science (1990) 1.92
Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9. Nat New Biol (1972) 1.91
Two subsets of human alphoid repetitive DNA show distinct preferential localization in the pericentric regions of chromosomes 13, 18, and 21. Cytogenet Cell Genet (1986) 1.90
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
Analysis of molecular variance (AMOVA) of Y-chromosome-specific microsatellites in two closely related human populations. Hum Mol Genet (1996) 1.84
Parents' responses to predictive genetic testing in their children: report of a single case study. J Med Genet (1996) 1.83
Reciprocal translocations in man. 3:1 Meiotic disjunction resulting in 47- or 45-chromosome offspring. J Med Genet (1975) 1.81
Psychological impact of population-based carrier testing for cystic fibrosis: 3-year follow-up. UK Cystic Fibrosis Follow-Up Study Group. Lancet (1996) 1.79
Somatic APC mosaicism: an underestimated cause of polyposis coli. Gut (2007) 1.79
Definitive evidence for the short arm of the Y chromosome associating with the X chromosome during miosis in the human male. Nature (1970) 1.78
Efficient isolation of X chromosome-specific single-copy probes from a cosmid library of a human X/hamster hybrid-cell line: mapping of new probes close to the locus for X-linked mental retardation. Am J Hum Genet (1987) 1.77
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet (2001) 1.76
RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol (2010) 1.75
Genetics of classic Alport's syndrome. Lancet (1988) 1.73
Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1. Hum Mol Genet (1996) 1.71
EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. Am J Hum Genet (1999) 1.70
An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet (2001) 1.70
Potentiometric polymeric membrane electrodes for measurement of environmental samples at trace levels: new requirements for selectivities and measuring protocols, and comparison with ICPMS. Anal Chem (2001) 1.70
Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome-specific repetitive DNA probes. Cancer Res (1988) 1.67
Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67
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
Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet (2005) 1.63
Duplications in the DMD gene. Hum Mutat (2006) 1.58
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis. J Med Genet (1996) 1.55
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure. J Med Genet (1986) 1.55
A disseminated alveolar rhabdomyosarcoma in a 9-year-old boy disclosed by chromosomal translocation (2;13) (q35;q14) Pediatr Hematol Oncol (1992) 1.55
Prenatal testing for Duchenne and Becker muscular dystrophy. Lancet (1988) 1.54
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A (2005) 1.54
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet (1994) 1.51
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
A method for generating hybrids containing nonselected fragments of human chromosomes. Genomics (1989) 1.47
Point mutations in the dystrophin gene. Proc Natl Acad Sci U S A (1992) 1.46
Localization of the polymorphic human calcitonin gene on chromosome 11. Hum Genet (1984) 1.46
Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in The Netherlands: a cohort study. Lancet (1999) 1.46
Chromosome assignment of some human enzyme loci: mitochondrial malate dehydrogenase to 7, mannosephosphate isomerase and pyruvate kinase to 15 and probably, esterase D to 13. Ann Hum Genet (1975) 1.45
Exon structure of the human dystrophin gene. Genomics (1993) 1.45
Parental origin and germline mosaicism of deletions and duplications of the dystrophin gene: a European study. Hum Genet (1992) 1.44
Predictive genetic testing in children and adults: a study of emotional impact. J Med Genet (2001) 1.44
Human gene mapping using an X/autosome translocation. Somatic Cell Genet (1976) 1.44
Direct diagnosis of carriers of Duchenne and Becker muscular dystrophy by amplification of lymphocyte RNA. Lancet (1991) 1.44
Qualitative and quantitative detection of HIV-1 RNA by nucleic acid sequence-based amplification. AIDS (1993) 1.44
Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve Suppl (1995) 1.43
The GRAIDS Trial: a cluster randomised controlled trial of computer decision support for the management of familial cancer risk in primary care. Br J Cancer (2007) 1.43
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol (2001) 1.42
Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes. Am J Hum Genet (1991) 1.41
Abnormal chromosome complement after normal amniocentesis result. Lancet (1992) 1.40
Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet (1998) 1.39
Objectives of genetic counselling: differing views of purchasers, providers and users. J Public Health Med (1998) 1.38
[Turkish children with recurrent abdominal pain and fever: familial Mediterranean fever]. Ned Tijdschr Geneeskd (2003) 1.38
Development of additional RFLP probes near the locus for Duchenne muscular dystrophy by cosmid cloning of the DXS84 (754) locus. Hum Genet (1986) 1.38
Searching for the 1 in 2,400,000: a review of dystrophin gene point mutations. Hum Mutat (1994) 1.36
Chromosome-specific alpha satellite DNA: isolation and mapping of a polymorphic alphoid repeat from human chromosome 10. Genomics (1988) 1.36