Published in Am J Hum Genet on March 01, 1985
Construction of a map of chromosome 16 by using radiation hybrids. Proc Natl Acad Sci U S A (1992) 0.89
Population data on benign and severe forms of X-linked muscular dystrophy. Hum Genet (1987) 0.88
Homogeneity of cystic fibrosis in Italy. Am J Hum Genet (1986) 0.87
Detection of specific sequences among DNA fragments separated by gel electrophoresis. J Mol Biol (1975) 503.08
Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. Proc Natl Acad Sci U S A (1977) 13.87
Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy. Nature (1982) 11.57
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 strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet (1984) 7.73
Single-copy sequence hybridizes to polymorphic and homologous loci on human X and Y chromosomes. Proc Natl Acad Sci U S A (1982) 3.11
A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A (1983) 2.73
Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. J Med Genet (1979) 2.57
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
Clinical trial in Duchenne dystrophy. I. The design of the protocol. Muscle Nerve (1981) 2.06
Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. Am J Hum Genet (1981) 1.97
An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695. Cytogenet Cell Genet (1980) 1.89
Localisation of the Becker muscular dystrophy gene on the short arm of the X chromosome by linkage to cloned DNA sequences. Hum Genet (1984) 1.74
New linkage data for the X-linked types of muscular dystrophy and G6PD variants, colour blindness, and Xg blood groups. J Med Genet (1974) 1.24
Linkage between the loci for benign (Becker-type) X-borne muscular dystrophy and deutan colour blindness. J Med Genet (1974) 1.24
Fluorescence analysis of late DNA replication in human metaphase chromosomes. Somatic Cell Genet (1975) 1.18
The molecular basis for the clinical diversity of beta thalassaemia in Cypriots. Lancet (1983) 1.15
Localisation of gene for Becker muscular dystrophy. Lancet (1983) 0.99
A simple method for fusing human lymphocytes with rodent cells in monolayer by polyethylene glycol. Somatic Cell Genet (1981) 0.89
Site-specific integration by adeno-associated virus. Proc Natl Acad Sci U S A (1990) 7.06
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet (2001) 5.09
Genome sequence, comparative analysis, and population genetics of the domestic horse. Science (2009) 4.41
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet (2001) 4.15
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Positive selection of a gene family during the emergence of humans and African apes. Nature (2001) 3.68
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08
Mapping through somatic cell hybrids and cDNA probes of protein C to chromosome 2, factor X to chromosome 13, and alpha 1-acid glycoprotein to chromosome 9. Hum Genet (1986) 2.84
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet (1996) 2.40
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology (2009) 2.33
The chemokine receptor CCR8 is preferentially expressed in Th2 but not Th1 cells. J Immunol (1998) 2.32
A novel chromosomal translocation t(4; 14)(p16.3; q32) in multiple myeloma involves the fibroblast growth-factor receptor 3 gene. Blood (1997) 2.31
Extracellular complementation of a developmental mutation implicates a small sporulation protein in aerial mycelium formation by S. coelicolor. Cell (1991) 2.24
ERO1-L, a human protein that favors disulfide bond formation in the endoplasmic reticulum. J Biol Chem (2000) 2.24
Cryptic deletions are a common finding in "balanced" reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet (2007) 2.21
Centromere emergence in evolution. Genome Res (2001) 2.18
Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database. Hum Mol Genet (1997) 2.15
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Interleukin-1-inducible genes in endothelial cells. Cloning of a new gene related to C-reactive protein and serum amyloid P component. J Biol Chem (1992) 2.08
Expression of transforming growth factor-beta 1 in dystrophic patient muscles correlates with fibrosis. Pathogenetic role of a fibrogenic cytokine. J Clin Invest (1995) 2.06
Assignment of the vascular endothelial growth factor gene to human chromosome 6p21.3. Circulation (1996) 2.04
Sequences flanking the centromere of human chromosome 10 are a complex patchwork of arm-specific sequences, stable duplications and unstable sequences with homologies to telomeric and other centromeric locations. Hum Mol Genet (1999) 1.94
Translocation breakpoint of acute promyelocytic leukemia lies within the retinoic acid receptor alpha locus. Proc Natl Acad Sci U S A (1991) 1.90
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2000) 1.84
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet (1991) 1.73
Visualizing gene expression in time and space in the filamentous bacterium Streptomyces coelicolor. Science (1988) 1.71
Molecular structure and evolution of an alpha satellite/non-alpha satellite junction at 16p11. Hum Mol Genet (2000) 1.71
Effectiveness of anthracycline against experimental prion disease in Syrian hamsters. Science (1997) 1.70
Interchromosomal duplications of the adrenoleukodystrophy locus: a phenomenon of pericentromeric plasticity. Hum Mol Genet (1997) 1.70
Testing models for genetic determination in migraine. Cephalalgia (1993) 1.67
Genetic modulation of the Let-7 microRNA binding to KRAS 3'-untranslated region and survival of metastatic colorectal cancer patients treated with salvage cetuximab-irinotecan. Pharmacogenomics J (2010) 1.63
Physical mapping of the human chromosome 11q23 region containing the ataxia-telangiectasia locus. Cancer Genet Cytogenet (1990) 1.60
Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines. Am J Hum Genet (1990) 1.60
An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy. Neurology (2007) 1.56
CAGGG repeats and the pericentromeric duplication of the hominoid genome. Genome Res (1999) 1.55
Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus. Nat Genet (1992) 1.51
A novel mutation and novel features in Nijmegen breakage syndrome. J Med Genet (2001) 1.50
Computer-assisted analysis of methylation status of individual interphase nuclei in human cultured cells. Cytometry (1998) 1.49
Centromere repositioning. Genome Res (1999) 1.46
Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages. Am J Hum Genet (1983) 1.44
Comparative mapping of human alphoid sequences in great apes using fluorescence in situ hybridization. Genomics (1995) 1.44
Familial spasmodic dysphonia with low arylsulphatase A (ASA) level. Acta Neurol Scand (1995) 1.40
Atypical cutaneous mycobacteriosis diagnosed by polymerase chain reaction. Br J Dermatol (2002) 1.38
Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. Hum Mol Genet (2000) 1.34
The NM23 gene maps to human chromosome band 17q22 and shows a restriction fragment length polymorphism with BglII. Genes Chromosomes Cancer (1992) 1.34
Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology (1997) 1.34
A new multicolor-FISH approach for the characterization of marker chromosomes: centromere-specific multicolor-FISH (cenM-FISH). Hum Genet (2001) 1.33
Molecular cloning, cDNA sequence, and chromosomal localization of the human phosphatidylinositol 3-kinase p110 alpha (PIK3CA) gene. Genomics (1994) 1.33
Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile-X site suggests a high rate of meiotic recombination across this site. Proc Natl Acad Sci U S A (1984) 1.30
Isolation and characterization of a steroid sulfatase cDNA clone: genomic deletions in patients with X-chromosome-linked ichthyosis. Proc Natl Acad Sci U S A (1987) 1.30
A second genetic locus for autosomal dominant polycystic kidney disease. Lancet (1988) 1.29
Isolation and nucleotide sequence of a full-length cDNA coding for aldolase B from human liver. Nucleic Acids Res (1984) 1.28
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations. J Med Genet (2000) 1.25
Genomic sequence and transcriptional profile of the boundary between pericentromeric satellites and genes on human chromosome arm 10q. Hum Mol Genet (2000) 1.25
Primate chromosome evolution: ancestral karyotypes, marker order and neocentromeres. Chromosome Res (2008) 1.24
A human alpha satellite DNA subset specific for chromosome 12. Am J Hum Genet (1990) 1.24
Heterogeneous chromosomal aberrations generate 3' truncations of the NFKB2/lyt-10 gene in lymphoid malignancies. Blood (1994) 1.23
Extreme reduction of chromosome-specific alpha-satellite array is unusually common in human chromosome 21. Genome Res (1999) 1.22
Melusin is a new muscle-specific interactor for beta(1) integrin cytoplasmic domain. J Biol Chem (1999) 1.22
Adjuvant chemotherapy with vincristine, cyclophosphamide, and doxorubicin after radiotherapy in local-regional nasopharyngeal cancer: results of a 4-year multicenter randomized study. J Clin Oncol (1988) 1.21
cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci U S A (1991) 1.20
Promoter determining the timing and spatial localization of transcription of a cloned Streptomyces coelicolor gene encoding a spore-associated polypeptide. J Bacteriol (1988) 1.20
Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Neurology (2004) 1.19
Upregulation of the SOX5 by promoter swapping with the P2RY8 gene in primary splenic follicular lymphoma. Leukemia (2007) 1.19
Bone mineral density and bone metabolism in Duchenne muscular dystrophy. Osteoporos Int (2003) 1.19
Superoxide dismutase gene mutations in Italian patients with familial and sporadic amyotrophic lateral sclerosis: identification of three novel missense mutations. Neuromuscul Disord (2001) 1.18
Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families. Neuromuscul Disord (1995) 1.18
Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications. Mol Biol Evol (2003) 1.18
Mapping of two genes encoding isoforms of the actin binding protein ABP-280, a dystrophin like protein, to Xq28 and to chromosome 7. Hum Mol Genet (1993) 1.17
Diagnosis of glycogenosis type II. Neurology (2008) 1.16
Transforming growth factor-beta1 and fibrosis in congenital muscular dystrophies. Neuromuscul Disord (1999) 1.15
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet (2003) 1.13
Hormone-modulated rRNA gene activity is visualized by selective staining of the NOs. Cell Biol Int Rep (1985) 1.12
Cloning of human and rat cDNAs encoding the mitochondrial single-stranded DNA-binding protein (SSB). Gene (1993) 1.12
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years. J Neurol (2011) 1.11
An alphoid DNA sequence conserved in all human and great ape chromosomes: evidence for ancient centromeric sequences at human chromosomal regions 2q21 and 9q13. Hum Genet (1993) 1.11
New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset. Mol Biol Evol (2009) 1.10
The human genes for hemophilia A and hemophilia B flank the X chromosome fragile site at Xq27.3. EMBO J (1985) 1.09
Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family. Neurology (1991) 1.09
Characterization of a small family (CAIII) of microsatellite-containing sequences with X-Y homology. J Mol Evol (1997) 1.09
Reconstruction of the female Gorilla gorilla karyotype using 25-color FISH and multicolor banding (MCB). Cytogenet Cell Genet (2001) 1.08
Mapping of human cellular retinol-binding protein to chromosome 3. Cytogenet Cell Genet (1986) 1.08
Divergent origins and concerted expansion of two segmental duplications on chromosome 16. J Hered (2002) 1.08
Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology (2007) 1.07
Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes. Matrix Biol (2007) 1.06
Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy. FEBS Lett (1994) 1.05
Molecular analysis of 11q13 breakpoints in multiple myeloma. Blood (1999) 1.05
The human gene coding for HCN2, a pacemaker channel of the heart. Biochim Biophys Acta (1999) 1.05
Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): A new gene cluster on Xp22. Genomics (1999) 1.04
A human alphoid DNA clone from the EcoRI dimeric family: genomic and internal organization and chromosomal assignment. Genomics (1989) 1.03
A high resolution deletion map of human chromosome Xp22. Nat Genet (1993) 1.03
A genetic association study of dopamine metabolism-related genes and chronic headache with drug abuse. Eur J Neurol (2006) 1.02
Control of Listeria monocytogenes in ground beef by 'Lactocin 705', a bacteriocin produced by Lactobacillus casei CRL 705). Int J Food Microbiol (1996) 1.02
Genomic segmental duplications on the basis of the t(9;22) rearrangement in chronic myeloid leukemia. Oncogene (2010) 1.02
Comparison of cytologic and genetic distances between long arm subtelomeric markers of human autosome 14 suggests uneven distribution of crossing-over. Cytogenet Cell Genet (1987) 1.02