Published in Cytogenet Cell Genet on January 01, 1985
Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq. Am J Hum Genet (1988) 2.47
Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. Am J Hum Genet (1988) 1.93
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
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
Carrier detection in X-linked severe combined immunodeficiency based on patterns of X chromosome inactivation. J Clin Invest (1987) 1.67
DNA probe analysis for carrier detection and prenatal diagnosis of Duchenne muscular dystrophy: a standard diagnostic procedure. J Med Genet (1986) 1.55
Characterization of five partial deletions of the factor VIII gene. Proc Natl Acad Sci U S A (1987) 1.45
Genes for synapsin I, a neuronal phosphoprotein, map to conserved regions of human and murine X chromosomes. Proc Natl Acad Sci U S A (1986) 1.30
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
Duchenne muscular dystrophy in one of monozygotic twin girls. J Med Genet (1986) 1.28
Mapping of DNA markers close to the fragile site on the human X chromosome at Xq27.3. Nucleic Acids Res (1987) 1.26
Involvement of chromosome X in primary cytogenetic change in human neoplasia: nonrandom translocation in synovial sarcoma. Proc Natl Acad Sci U S A (1987) 1.20
Norrie disease resulting from a gene deletion: clinical features and DNA studies. J Med Genet (1988) 1.17
Localization of the McLeod locus (XK) within Xp21 by deletion analysis. Am J Hum Genet (1988) 1.16
Two highly polymorphic minisatellites from the pseudoautosomal region of the human sex chromosomes. EMBO J (1987) 1.15
Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients. Nucleic Acids Res (1987) 1.12
Hot spot of recombination within DXS164 in the Duchenne muscular dystrophy gene. Am J Hum Genet (1989) 1.11
Deletions in patients with classical choroideremia vary in size from 45 kb to several megabases. Am J Hum Genet (1990) 1.10
Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13. Proc Natl Acad Sci U S A (1987) 1.08
Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). Am J Hum Genet (1994) 1.07
Emery-Dreifuss muscular dystrophy: localisation to Xq27.3----qter confirmed by linkage to the factor VIII gene. J Med Genet (1986) 1.06
Multipoint linkage analysis of loci in the proximal long arm of the human X chromosome: application to mapping the choroideremia locus. Am J Hum Genet (1987) 1.06
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
Bridging markers defining the map position of X linked hypophosphataemic rickets. J Med Genet (1987) 1.02
Mild and severe muscular dystrophy associated with deletions in Xp21 of the human X chromosome. J Med Genet (1988) 1.02
Linkage heterogeneity between X-linked retinitis pigmentosa and a map of 10 RFLP loci. Am J Hum Genet (1989) 1.02
Phenotype-genotype correlations in X linked retinitis pigmentosa. J Med Genet (1992) 1.00
A human Y-chromosomal DNA sequence expressed in testicular tissue. Nucleic Acids Res (1987) 0.96
Detailed ordering of markers localizing to the Xq26-Xqter region of the human X chromosome by the use of an interspecific Mus spretus mouse cross. Proc Natl Acad Sci U S A (1987) 0.96
Prenatal diagnosis of Duchenne muscular dystrophy by DNA analysis. J Med Genet (1986) 0.96
Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families. J Med Genet (1986) 0.95
A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes. Am J Hum Genet (1991) 0.95
Linkage analysis of X linked retinitis pigmentosa in the Irish population. J Med Genet (1988) 0.94
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
Recombinant DNA techniques in the diagnosis of inherited disorders. J Clin Invest (1986) 0.91
A register based system for gene tracking in Duchenne muscular dystrophy. J Med Genet (1986) 0.91
Norrie disease gene is distinct from the monoamine oxidase genes. Am J Hum Genet (1989) 0.90
Y chromosome--specific DNA sequences in Turner-syndrome mosaicism. Am J Hum Genet (1987) 0.89
Chromosomal jumping from the DXS165 locus allows molecular characterization of four microdeletions and a de novo chromosome X/13 translocation associated with choroideremia. Proc Natl Acad Sci U S A (1989) 0.87
Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms. J Med Genet (1986) 0.83
Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions. J Med Genet (1987) 0.83
Molecular genetics of retinitis pigmentosa. West J Med (1991) 0.79
Elucidation of structural abnormalities of the X chromosome using fluorescence in situ hybridisation with a Y chromosome painting probe. J Med Genet (1994) 0.79
A restriction-fragment-length difference detected by the anonymous probe DXS199 exhibits non-Mendelian inheritance. Am J Hum Genet (1988) 0.78
Linkage analysis of Norrie disease with X-chromosomal ornithine aminotransferase. Trans Am Ophthalmol Soc (1992) 0.77
Linkage analysis of Norrie disease with an X-chromosomal ornithine aminotransferase locus. Trans Am Ophthalmol Soc (1993) 0.75
Identification and immunochemical characterization of the human erythrocyte membrane glycoproteins that carry the Xga antigen. Biochem J (1989) 0.75
A gene map of the human genome. Science (1996) 14.32
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57
A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature (1990) 10.97
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
Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30
Cloning of a representative genomic library of the human X chromosome after sorting by flow cytometry. Nature (1981) 6.18
SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene. Mol Cell Biol (1997) 5.72
Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science (1993) 5.05
A radiation hybrid map of the human genome. Hum Mol Genet (1996) 4.75
Utrophin-dystrophin-deficient mice as a model for Duchenne muscular dystrophy. Cell (1997) 4.38
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Positional cloning of the gene for X-linked retinitis pigmentosa 2. Nat Genet (1998) 4.01
Cystic fibrosis: steady steps lead to the gene. Nature (1989) 3.90
Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature (1990) 3.84
Toward early diagnosis of myotonic dystrophy: construction and characterization of a somatic cell hybrid with a single human der(19) chromosome. Cytogenet Cell Genet (1986) 3.76
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus. Cell (1995) 3.72
Sequence variation of the human Y chromosome. Nature (1995) 3.59
Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet (1996) 3.53
Genetic mapping of chronic childhood-onset spinal muscular atrophy to chromosome 5q11.2-13.3. Nature (1990) 3.48
Report of the committee on the genetic constitution of the X chromosome. Cytogenet Cell Genet (1989) 3.37
DNA binding activity of recombinant SRY from normal males and XY females. Science (1992) 3.32
SRY, like HMG1, recognizes sharp angles in DNA. EMBO J (1992) 3.29
International SMA consortium meeting. (26-28 June 1992, Bonn, Germany). Neuromuscul Disord (1992) 3.26
Genetic evidence equating SRY and the testis-determining factor. Nature (1990) 3.22
Cloning of a gene that is rearranged in patients with choroideraemia. Nature (1990) 3.21
A method for constructing radiation hybrid maps of whole genomes. Nat Genet (1994) 3.19
Prenatal diagnosis and carrier detection of Duchenne muscular dystrophy with closely linked RFLPs. Lancet (1985) 3.08
A monoclonal antibody to the human epidermal growth factor receptor. J Cell Biochem (1982) 3.04
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat Genet (1997) 3.03
Human dystrophin expression in mdx mice after intramuscular injection of DNA constructs. Nature (1991) 3.03
A comparison of the properties of Sox-3 with Sry and two related genes, Sox-1 and Sox-2. Development (1996) 3.02
DNA microarrays in drug discovery and development. Nat Genet (1999) 3.02
A genome screen in multiple sclerosis reveals susceptibility loci on chromosome 6p21 and 17q22. Nat Genet (1996) 3.00
Amelioration of the dystrophic phenotype of mdx mice using a truncated utrophin transgene. Nature (1996) 2.95
An autosomal transcript in skeletal muscle with homology to dystrophin. Nature (1989) 2.91
The positions of three restriction fragment length polymorphisms on chromosome 4 relative to known genetic markers. Hum Genet (1984) 2.84
Further studies of gene deletions that cause Duchenne and Becker muscular dystrophies. Genomics (1988) 2.74
Preferential deletion of exons in Duchenne and Becker muscular dystrophies. Nature (1987) 2.67
Deletions in the survival motor neuron gene on 5q13 in autosomal recessive spinal muscular atrophy. Hum Mol Genet (1995) 2.59
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
A radiation hybrid map of the rat genome containing 5,255 markers. Nat Genet (1999) 2.54
Rapid sequence evolution of the mammalian sex-determining gene SRY. Nature (1993) 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
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. J Med Genet (1983) 2.45
Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol (1985) 2.39
PDZ domains: targeting signalling molecules to sub-membranous sites. Bioessays (1997) 2.39
Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (1995) 2.38
Physical mapping studies on the human X chromosome in the region Xq27-Xqter. Genomics (1987) 2.35
Definition of a consensus DNA binding site for SRY. Nucleic Acids Res (1994) 2.34
The beta2-microglobulin gene is on chromosome 15 and not in the HL-A region. Nature (1975) 2.29
MECP2 is highly mutated in X-linked mental retardation. Hum Mol Genet (2001) 2.12
Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation. Nat Genet (2000) 2.10
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophy. Lancet (1987) 2.08
Cellular distrubtion, purification, and molecular nature of human Ia antigens. Scand J Immunol (1977) 2.04
MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation. Nat Genet (2001) 2.04
Chromosomal localisation of the human homologues to the oncogenes erbA and B. EMBO J (1984) 2.02
DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child (1995) 1.98
A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation. Nat Genet (2000) 1.97
Chromosomal localization of human cellular homologues of two viral oncogenes. Nature (1982) 1.96
Genetic evidence that a Y-linked gene in man is homologous to a gene on the X chromosome. Nature (1983) 1.94
A pseudoautosomal gene in man. Science (1986) 1.94
Instability versus predictability: the molecular diagnosis of myotonic dystrophy. J Med Genet (1992) 1.94
ZZ and TAZ: new putative zinc fingers in dystrophin and other proteins. Trends Biochem Sci (1996) 1.94
Two genetic markers closely linked to adult polycystic kidney disease on chromosome 16. Br Med J (Clin Res Ed) (1986) 1.93
Linkage studies of X-linked recessive spastic paraplegia using DNA probes. Hum Genet (1986) 1.92
Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet (1996) 1.90
A new DNA marker tightly linked to the fragile X locus (FRAXA). Science (1989) 1.88
Human T cell leukemia viruses use a receptor determined by human chromosome 17. Science (1988) 1.87
Assignment by deletion mapping of the steroid sulfatase X-linked ichthyosis locus to Xp223. Hum Genet (1980) 1.87
The gene, MIC4, which controls expression of the antigen defined by monoclonal antibody F10.44.2, is on human chromosome 11. Eur J Immunol (1982) 1.86
Immunoglobulin heavy chain genes in humans are located on chromosome. Ann Hum Genet (1981) 1.85
The insulin-like growth factor type-2 receptor gene is imprinted in the mouse but not in humans. Nat Genet (1993) 1.84
Immunological studies of yeast nuclear RNA polymerases at the subunit level. J Biol Chem (1980) 1.84
The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors. Hum Mol Genet (2000) 1.84
A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation. Am J Med Genet (1985) 1.83
Use of a chromosome 21 cloned DNA probe for the analysis of non-disjunction in Down syndrome. Hum Genet (1984) 1.81
Sex-reversing mutations affect the architecture of SRY-DNA complexes. EMBO J (1994) 1.80
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. N Engl J Med (1992) 1.78
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet (2000) 1.78
Prenatal diagnosis of spinal muscular atrophy by gene deletion analysis. Lancet (1995) 1.75
Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene. Hum Mutat (1997) 1.74
A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet (1992) 1.73
A first-generation whole genome-radiation hybrid map spanning the mouse genome. Genome Res (1997) 1.73
Patterns of exon deletions in Duchenne and Becker muscular dystrophy. Hum Genet (1988) 1.73
Report of the committee on the genetic constitution of the X and Y chromosomes. Cytogenet Cell Genet (1987) 1.68
Skeletal muscle-specific expression of a utrophin transgene rescues utrophin-dystrophin deficient mice. Nat Genet (1998) 1.68
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet (1999) 1.68
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
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? Hum Mol Genet (1997) 1.67
A cytological map of the human X chromosome--evidence for non-random recombination. Nucleic Acids Res (1984) 1.64
The chromosomal location of T-cell receptor genes and a T cell rearranging gene: possible correlation with specific translocations in human T cell leukaemia. EMBO J (1985) 1.64
The application of DNA recombinant technology to the analysis of the human genome and genetic disease. Hum Genet (1981) 1.64
Derivation of clones from the choroideremia locus by preparative field inversion gel electrophoresis. Nucleic Acids Res (1990) 1.63
Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet (1992) 1.63
Sex chromosome positions in human interphase nuclei as studied by in situ hybridization with chromosome specific DNA probes. Hum Genet (1984) 1.62
Utrophin actin binding domain: analysis of actin binding and cellular targeting. J Cell Sci (1995) 1.61