Published in J Inherit Metab Dis on January 01, 1989
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
Immunohistochemical studies show truncated dystrophins in the myotubes of three fetuses at risk for Duchenne muscular dystrophy. J Med Genet (1991) 0.78
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
Individual-specific 'fingerprints' of human DNA. Nature (1985) 10.38
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
Transcription of the dystrophin gene in human muscle and non-muscle tissue. Nature (1988) 7.00
An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics (1988) 6.51
Isolation of candidate cDNAs for portions of the Duchenne muscular dystrophy gene. Nature (1986) 6.45
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. Proc Natl Acad Sci U S A (1985) 5.50
Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment. Nature (1985) 4.62
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
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy. Nature (1986) 3.62
A deletion hot spot in the Duchenne muscular dystrophy gene. Genomics (1988) 3.18
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
Germline mosaicism and Duchenne muscular dystrophy mutations. Nature (1987) 2.56
A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature (1987) 2.55
Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature (1987) 2.44
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
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04
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
Muscular dystrophy in girls with X;autosome translocations. J Med Genet (1986) 1.78
Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy. N Engl J Med (1987) 1.70
Conservation of the Duchenne muscular dystrophy gene in mice and humans. Science (1987) 1.66
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
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure. J Med Genet (1986) 1.55
Localisation of gene for Becker muscular dystrophy. Lancet (1983) 0.99
Gene studies in newborn males with Duchenne muscular dystrophy detected by neonatal screening. Lancet (1988) 0.97
Serum creatine kinase activity and carrier status for duchenne muscular dystrophy. Lancet (1980) 0.75
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
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
Report of the Committee on Human Gene Mapping by Recombinant DNA Techniques. Cytogenet Cell Genet (1985) 2.70
Rapid subchromosomal localization of cosmids by nonradioactive in situ hybridization. Cytogenet Cell Genet (1990) 2.60
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
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
Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul Disord (2011) 2.47
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
Report of the committee on human gene mapping by recombinant DNA techniques. Cytogenet Cell Genet (1987) 2.24
The PWWP domain: a potential protein-protein interaction domain in nuclear proteins influencing differentiation? FEBS Lett (2000) 2.24
Managing all those bytes: the Human Genome Project. Science (1993) 2.23
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
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
A 10-megabase physical map of human Xp21, including the Duchenne muscular dystrophy gene. Genomics (1988) 2.04
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
Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) (1986) 1.93
Staining of some specific regions of human chromosomes, particularly the secondary constriction of No. 9. Nat New Biol (1972) 1.91
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
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
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
Antisense-induced exon skipping restores dystrophin expression in DMD patient derived muscle cells. Hum Mol Genet (2001) 1.76
Introduction and expression of the 400 kilobase amyloid precursor protein gene in transgenic mice [corrected]. Nat Genet (1993) 1.74
Lymphoma-associated translocation t(14;18) in blood B cells of normal individuals. Blood (1995) 1.71
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
Detection of chromosome aneuploidy in interphase nuclei from human primary breast tumors using chromosome-specific repetitive DNA probes. Cancer Res (1988) 1.67
Regional localization of DNA probes on the short arm of chromosome 11 using aniridia-Wilms' tumor-associated deletions. Hum Genet (1987) 1.67
Sequence heterogeneity within the human alphoid repetitive DNA family. Nucleic Acids Res (1986) 1.65
Characterization and localization of the Huntington disease gene product. Hum Mol Genet (1993) 1.60
Activation of the c-myc oncogene in a precursor-B-cell blast crisis of follicular lymphoma, presenting as composite lymphoma. N Engl J Med (1988) 1.59
Duplications in the DMD gene. Hum Mutat (2006) 1.58
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
Improved molecular diagnosis of dystrophinopathies in an unselected clinical cohort. Am J Med Genet A (2005) 1.54
Duration of illness in Huntington's disease is not related to age at onset. J Neurol Neurosurg Psychiatry (1993) 1.51
A targeted mouse Brca1 mutation removing the last BRCT repeat results in apoptosis and embryonic lethality at the headfold stage. Oncogene (2001) 1.50
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
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
Variation, transcription and circular RNAs of the mitochondrial gene for subunit I of cytochrome c oxidase. J Mol Biol (1983) 1.43
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
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
Chromosome-specific alpha satellite DNA: isolation and mapping of a polymorphic alphoid repeat from human chromosome 10. Genomics (1988) 1.36
Improved early diagnosis of adult polycystic kidney disease with flanking DNA markers. Lancet (1987) 1.36