Published in Eur J Hum Genet on January 01, 1994
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An SNP map of human chromosome 22. Nature (2000) 2.99
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Further evidence for elevated human minisatellite mutation rate in Belarus eight years after the Chernobyl accident. Mutat Res (1997) 1.92
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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
A DNA probe detecting multiple haplotypes of the human Y chromosome. Am J Hum Genet (1986) 1.77
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An extensive analysis of Y-chromosomal microsatellite haplotypes in globally dispersed human populations. Am J Hum Genet (2001) 1.70
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Two loci for tuberous sclerosis: one on 9q34 and one on 16p13. Ann Hum Genet (1994) 1.62
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure. J Med Genet (1986) 1.55
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Localization of the polymorphic human calcitonin gene on chromosome 11. Hum Genet (1984) 1.46
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Human gene mapping using an X/autosome translocation. Somatic Cell Genet (1976) 1.44
Facioscapulohumeral muscular dystrophy in the Dutch population. Muscle Nerve Suppl (1995) 1.43
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis. Ann Neurol (2001) 1.42
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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
The genetically programmed down-regulation of lactase in children. Gastroenterology (1998) 1.37
Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis. Hum Mol Genet (1998) 1.34
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Cardiac involvement in carriers of Duchenne and Becker muscular dystrophy. Neuromuscul Disord (1999) 1.32
Calpainopathy-a survey of mutations and polymorphisms. Am J Hum Genet (1999) 1.31
Fine mapping of the Huntington disease linked D4S10 locus by non-radioactive in situ hybridization. Hum Genet (1986) 1.30
Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet (1995) 1.29
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Hum Genet (1991) 1.29
Characterization of a mucin cDNA clone isolated from HT-29 mucus-secreting cells. The 3' end of MUC5AC? J Biol Chem (1995) 1.29
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Immunochemical analysis of the N-acetyl hexosaminidases in human-mouse hybrids made using a double selective system. Cytogenet Cell Genet (1977) 1.26
Involvement of a gene on chromosome 9 in human fibroblast interferon production. Nature (1979) 1.26
Meiotic instability of human minisatellite CEB1 in yeast requires DNA double-strand breaks. Nat Genet (1999) 1.26
A genetic linkage map of the rat derived from recombinant inbred strains. Mamm Genome (1996) 1.25
The lactase persistence/non-persistence polymorphism is controlled by a cis-acting element. Hum Mol Genet (1995) 1.24
Report and abstracts of the Third International Workshop on Chromosome 9. Cambridge, United Kingdom, 9-11 April, 1994. Ann Hum Genet (1994) 1.23
Extensive DNA sequence homologies between the human Y and the long arm of the X chromosome. EMBO J (1985) 1.23
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Recent human-specific spreading of a subtelomeric domain. Genomics (1998) 1.22
The pseudoautosomal region of the human sex chromosomes. Cold Spring Harb Symp Quant Biol (1986) 1.21
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
Variable number tandem repeat polymorphism of the mucin genes located in the complex on 11p15.5. Hum Genet (1998) 1.20
Description of a dinucleotide repeat polymorphism in the human elastin gene and its use to confirm assignment of the gene to chromosome 7. Ann Hum Genet (1993) 1.20
Dynamic mutation in Dutch Huntington's disease patients: increased paternal repeat instability extending to within the normal size range. J Med Genet (1993) 1.20
Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients. Neuromuscul Disord (2010) 1.19
Determination of complex formation constants of lipophilic neutral ionophores in solvent polymeric membranes with segmented sandwich membranes. Anal Chem (1999) 1.19
Expression of ErbB receptors and mucins in the airways of long term current smokers. Thorax (2004) 1.18
Possible phenotypic dosage effect in patients compound heterozygous for FSHD-sized 4q35 alleles. Neurology (2003) 1.18
No protective effect of apolipoprotein E epsilon 2 allele in Dutch hereditary cerebral amyloid angiopathy. Ann Neurol (1995) 1.17
Recurrence risk due to germ line mosaicism: Duchenne and Becker muscular dystrophy. Clin Genet (2009) 1.17
Characterization of genetic diversity of Bacillus anthracis in France by using high-resolution melting assays and multilocus variable-number tandem-repeat analysis. J Clin Microbiol (2011) 1.17
Deletion mapping: further evidence for the location of acid phosphatase (ACP1) within 2p23. Am J Med Genet (1979) 1.16
Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci. Genomics (1993) 1.16
Genetic analysis of the 15;17 chromosome translocation associated with acute promyelocytic leukemia. Proc Natl Acad Sci U S A (1983) 1.16
General description of the simultaneous response of potentiometric ionophore-based sensors to ions of different charge. Anal Chem (1999) 1.15
Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes. EMBO J (1987) 1.15
High resolution deletion breakpoint mapping in the DMD gene by whole cosmid hybridization. Nucleic Acids Res (1989) 1.15
Prevalence of anti-HCV antibodies confirmed by recombinant immunoblot in different population subsets in The Netherlands. Vox Sang (1991) 1.15
Linkage analysis in adenomatous polyposis coli: the use of four closely linked DNA probes in 20 UK families. J Med Genet (1991) 1.15
Two genes homologous with human protein S cDNA are located on chromosome 3. Thromb Haemost (1987) 1.14
Genetic regulation of MUC1 alternative splicing in human tissues. Br J Cancer (2008) 1.14
Genetic heterogeneity in tuberous sclerosis. Study of a large collaborative dataset. Ann N Y Acad Sci (1991) 1.14
Cerebral microbleeds in CADASIL. Neurology (2001) 1.13
Acid alpha-glucosidase: a new polymorphism in man demonstrable by 'affinity' electrophoresis. Ann Hum Genet (1975) 1.12
Children of chernobyl cleanup workers do not show elevated rates of mutations in minisatellite alleles. Radiat Res (2001) 1.11
DNA test for hypolactasia premature. Gut (2006) 1.10