Published in Am J Hum Genet on March 01, 1985
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
Inheritance of human breast cancer: evidence for autosomal dominant transmission in high-risk families. Proc Natl Acad Sci U S A (1988) 4.02
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
Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests. Proc Natl Acad Sci U S A (1990) 2.50
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet (1988) 2.47
Construction, arraying, and high-density screening of large insert libraries of human chromosomes X and 21: their potential use as reference libraries. Proc Natl Acad Sci U S A (1991) 2.21
Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. J Clin Invest (1990) 1.91
Isolation of anonymous DNA sequences from within a submicroscopic X chromosomal deletion in a patient with choroideremia, deafness, and mental retardation. Proc Natl Acad Sci U S A (1987) 1.83
Identification and regional localization of DNA markers on chromosome 7 for the cloning of the cystic fibrosis gene. Am J Hum Genet (1988) 1.80
Muscular dystrophy in girls with X;autosome translocations. J Med Genet (1986) 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
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions. Am J Hum Genet (1987) 1.72
Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis (2010) 1.70
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure. J Med Genet (1986) 1.55
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. Am J Hum Genet (1985) 1.52
Partial gene duplication in Duchenne and Becker muscular dystrophies. J Med Genet (1988) 1.50
Mapping of the X-linked agammaglobulinemia locus by use of restriction fragment-length polymorphism. J Clin Invest (1986) 1.49
A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. J Clin Invest (1989) 1.47
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. Muscle Nerve (2010) 1.45
2004 William Allan Award address. Cloning of the DMD gene. Am J Hum Genet (2005) 1.45
Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Proc Natl Acad Sci U S A (1989) 1.43
Chronic granulomatous disease: a review of the infectious and inflammatory complications. Clin Mol Allergy (2011) 1.42
Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21. Am J Hum Genet (1989) 1.29
Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. Proc Natl Acad Sci U S A (1991) 1.29
Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis. Am J Hum Genet (1988) 1.28
DNA linkage analysis of X chromosome-linked chronic granulomatous disease. Proc Natl Acad Sci U S A (1986) 1.27
Isolation and characterization of a human telomere. Nucleic Acids Res (1989) 1.26
Linkage of the Wiskott-Aldrich syndrome with polymorphic DNA sequences from the human X chromosome. Proc Natl Acad Sci U S A (1987) 1.23
Nance-Horan syndrome: localization within the region Xp21.1-Xp22.3 by linkage analysis. Am J Hum Genet (1990) 1.18
The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am J Hum Genet (1988) 1.18
Norrie disease resulting from a gene deletion: clinical features and DNA studies. J Med Genet (1988) 1.17
Neurogenetics: advancing the "next-generation" of brain research. Neuron (2010) 1.16
Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet (1988) 1.16
Common sequence motifs at the rearrangement sites of a constitutional X/autosome translocation and associated deletion. Am J Hum Genet (1992) 1.15
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. Am J Hum Genet (1990) 1.10
DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21. Am J Hum Genet (1987) 1.08
Improved diagnosis of Duchenne/Becker muscular dystrophy. J Clin Invest (1990) 1.08
Duchenne muscular dystrophy with adrenal insufficiency and glycerol kinase deficiency: high resolution cytogenetic analysis with molecular, biochemical, and clinical studies. J Med Genet (1986) 1.04
Linkage relationships between X-linked retinitis pigmentosa and nine short-arm markers: exclusion of the disease locus from Xp21 and localization to between DXS7 and DXS14. Am J Hum Genet (1987) 1.03
Localization of the microsatellite probe DXS426 between DXS7 and DXS255 on Xp and linkage to X-linked retinitis pigmentosa. Am J Hum Genet (1990) 1.03
Molecular deletion analysis in Duchenne muscular dystrophy. J Med Genet (1986) 1.02
Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci. Am J Hum Genet (1989) 1.02
Mutations in the promoter region of the gene for gp91-phox in X-linked chronic granulomatous disease with decreased expression of cytochrome b558. J Clin Invest (1994) 1.00
Phenotype-genotype correlations in X linked retinitis pigmentosa. J Med Genet (1992) 1.00
An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Am J Hum Genet (1989) 1.00
Genes for two autosomal recessive forms of chronic granulomatous disease assigned to 1q25 (NCF2) and 7q11.23 (NCF1). Am J Hum Genet (1990) 0.96
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families. J Med Genet (1986) 0.95
PU.1 as an essential activator for the expression of gp91(phox) gene in human peripheral neutrophils, monocytes, and B lymphocytes. Proc Natl Acad Sci U S A (1998) 0.95
Linkage analysis of X linked retinitis pigmentosa in the Irish population. J Med Genet (1988) 0.94
The screening of Duchenne muscular dystrophy patients for submicroscopic deletions. J Med Genet (1986) 0.93
Linkage analysis of polymorphisms within the DNA fragment XJ cloned from the breakpoint of an X;21 translocation associated with X linked muscular dystrophy. J Med Genet (1986) 0.92
DNA analysis for ornithine transcarbamylase deficiency. J Inherit Metab Dis (1986) 0.91
Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. Am J Hum Genet (1989) 0.91
Inherited X-chromosome inverted tandem duplication in a male traced to a grandparental mitotic error. Am J Hum Genet (1986) 0.90
X linked spondyloepiphyseal dysplasia: a clinical, radiological, and molecular study of a large kindred. J Med Genet (1996) 0.88
Genetic localisation of the RP2 type of X linked retinitis pigmentosa in a large kindred. J Med Genet (1991) 0.87
Juvenile polyposis and other intestinal polyposis syndromes with microdeletions of chromosome 10q22-23. Clin Genet (2011) 0.86
Lowe oculocerebrorenal syndrome: DNA-based linkage of the gene to Xq24-q26, using tightly linked flanking markers and the correlation to lens examination in carrier diagnosis. Am J Hum Genet (1989) 0.86
A recombination outside the BB deletion refines the location of the X linked retinitis pigmentosa locus RP3. Am J Hum Genet (1996) 0.85
A contiguous Not I restriction map of band q22.3 of human chromosome 21. Proc Natl Acad Sci U S A (1992) 0.85
Complex management of a patient with a contiguous Xp11.4 gene deletion involving ornithine transcarbamylase: a role for detailed molecular analysis in complex presentations of classical diseases. Mol Genet Metab (2008) 0.84
Prenatal diagnosis of Duchenne muscular dystrophy: a three-year experience in a rapidly evolving field. J Inherit Metab Dis (1989) 0.84
Chronic granulomatous disease, the McLeod phenotype and the contiguous gene deletion syndrome-a review. Clin Mol Allergy (2011) 0.83
Fine mapping of the McLeod locus (XK) to a 150-380-kb region in Xp21. Am J Hum Genet (1992) 0.83
Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms. J Med Genet (1986) 0.83
Genomic landscape of the Greater Middle East. Nat Genet (2016) 0.81
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. J Med Genet (1995) 0.81
Xp21 contiguous gene syndromes: deletion quantitation with bivariate flow karyotyping allows mapping of patient breakpoints. Am J Hum Genet (1992) 0.80
Chromosomal rearrangement segregating with adrenoleukodystrophy: a molecular analysis. Proc Natl Acad Sci U S A (1993) 0.79
Retinitis pigmentosa families showing apparent X linked inheritance but unlinked to the RP2 or RP3 loci. J Med Genet (1994) 0.78
American Society of Human Genetics presidential address, October 18, 1990. Am J Hum Genet (1991) 0.78
DNA analysis in human disease. J Clin Pathol (1986) 0.78
Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implications for genetic risk estimates. J Med Genet (1991) 0.77
The golden era of ocular disease gene discovery: race to the finish. Clin Genet (2013) 0.77
Evidence for an X-linked modifier gene affecting the expression of Tourette syndrome and its relevance to the increased frequency of speech, cognitive, and behavioral disorders in males. Proc Natl Acad Sci U S A (1986) 0.77
The muscular dystrophies. Postgrad Med J (1992) 0.76
Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease. PLoS One (2012) 0.76
Disorders caused by chromosome abnormalities. Appl Clin Genet (2010) 0.76
Inherited deletion of subband Xp21.13 in a male with Duchenne muscular dystrophy. J Med Genet (1988) 0.75
Medical genetics. Postgrad Med J (1991) 0.75
Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds. J Clin Immunol (2014) 0.75
Mechanism of Deletion Removing All Dystrophin Exons in a Canine Model for DMD Implicates Concerted Evolution of X Chromosome Pseudogenes. Mol Ther Methods Clin Dev (2016) 0.75
2001 ASHG Presidential Address. On black boxes and storytellers: lessons learned in human genetics. Am J Hum Genet (2002) 0.75
2015 William Allan Award. Am J Hum Genet (2016) 0.75
A unique case of dystrophinopathy. J Neurol Neurosurg Psychiatry (1994) 0.75
2012 William Allan Award: Adventures in cytogenetics. Am J Hum Genet (2013) 0.75
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