Published in J Med Genet on September 01, 1989
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Somatic mosaicism in a patient with neurofibromatosis type 1. Am J Hum Genet (1996) 1.00
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Maternal mosaicism for IDUA deletion clarifies recurrence risk in MPS I. Hum Genome Var (2016) 0.75
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Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature (1987) 2.67
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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
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A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected male. Nature (1987) 2.10
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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
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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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Maternal duplication associated with gene deletion in sporadic hemophilia. Am J Hum Genet (1988) 1.27
A somatic mosaic for haemophilia A detected at the DNA level. Mol Biol Med (1988) 1.21
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Recombination with pERT87 (DXS164) in families with X-linked muscular dystrophy. Lancet (1986) 1.09
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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
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP. Nature (1995) 7.11
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell (1996) 5.99
The molecular basis for Duchenne versus Becker muscular dystrophy: correlation of severity with type of deletion. Am J Hum Genet (1989) 5.09
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum Mol Genet (1993) 4.21
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
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
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
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
The GDB human genome data base anno 1993. Nucleic Acids Res (1993) 3.51
A deletion hot spot in the Duchenne muscular dystrophy gene. Genomics (1988) 3.18
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
Genetic association of apolipoprotein E with age-related macular degeneration. Am J Hum Genet (1998) 2.82
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Germline mosaicism and Duchenne muscular dystrophy mutations. Nature (1987) 2.56
Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature (1984) 2.52
The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum Mutat (2004) 2.52
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet (1988) 2.47
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature (1987) 2.44
PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy. Lancet (1995) 2.40
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The X chromosome shows less genetic variation at restriction sites than the autosomes. Am J Hum Genet (1986) 2.22
Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. J Med Genet (1983) 2.16
A physical map of 4 million bp around the Duchenne muscular dystrophy gene on the human X-chromosome. Cell (1986) 2.12
Familial X-linked myalgia and cramps: a nonprogressive myopathy associated with a deletion in the dystrophin gene. Neurology (1989) 2.12
Protein truncation test (PTT) for rapid detection of translation-terminating mutations. Hum Mol Genet (1993) 2.08
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04
Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) (1986) 1.93
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Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele. Hum Genet (1984) 1.90
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
The role of genetic factors in age at natural menopause. Hum Reprod (2001) 1.83
The human thyroglobulin gene: a polymorphic marker localized distal to C-MYC on chromosome 8 band q24. Hum Genet (1985) 1.82
Allelotype of human breast carcinoma: a second major site for loss of heterozygosity is on chromosome 6q. Oncogene (1991) 1.81
A straightforward approach to isolate DNA sequences with potential linkage to the retinoblastoma locus. Hum Genet (1986) 1.80
A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter. Hum Mol Genet (1992) 1.80
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
Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP. Hum Genet (1987) 1.76
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Characterization and localization of the Huntington disease gene product. Hum Mol Genet (1993) 1.60
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Bcl-2/JH rearrangements in benign lymphoid tissues with follicular hyperplasia. Oncogene (1991) 1.56
At least four different chromosomal regions are involved in loss of heterozygosity in human breast carcinoma. Genomics (1989) 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
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A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage. Oncogene (2001) 1.50
Localization of the polymorphic human calcitonin gene on chromosome 11. Hum Genet (1984) 1.46
Chromosomal localization of a unique gene by non-autoradiographic in situ hybridization. Nature (1985) 1.46
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A whole-genome scan in 164 Dutch sib pairs with attention-deficit/hyperactivity disorder: suggestive evidence for linkage on chromosomes 7p and 15q. Am J Hum Genet (2003) 1.39
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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
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10. Am J Hum Genet (2000) 1.37
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Genetic linkage relationships of seven DNA probes with Duchenne and Becker muscular dystrophy. Hum Genet (1985) 1.33
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. Genes Chromosomes Cancer (2001) 1.32
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High-resolution in situ hybridization using DNA halo preparations. Hum Mol Genet (1992) 1.31
Fine mapping of the Huntington disease linked D4S10 locus by non-radioactive in situ hybridization. Hum Genet (1986) 1.30
Human lysosomal protective protein has cathepsin A-like activity distinct from its protective function. J Biol Chem (1991) 1.30
De-novo mutation in hereditary motor and sensory neuropathy type I. Lancet (1992) 1.30
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
Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Hum Genet (1991) 1.29
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