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Filters: Keyword is Repetitive Sequences, Nucleic Acid [Clear All Filters]
Automated DNA sequencing methods for detection and analysis of mutations: applications to the Lesch-Nyhan syndrome. Trans Assoc Am Physicians. 1989 ;102:185-94.
. Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms. Am J Hum Genet. 1991 ;49(5):951-60.
. Pentanucleotide repeat length polymorphism at the human CD4 locus. Nucleic Acids Res. 1991 ;19(17):4791.
. A human dimorphism resulting from loss of an Alu. Genomics. 1992 ;14(3):590-7.
. Fine structure of the human FMR1 gene. Hum Mol Genet. 1993 ;2(8):1147-53.
. Multiplex PCR: advantages, development, and applications. PCR Methods Appl. 1994 ;3(4):S65-75.
. 130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. Genome Res. 1995 ;5(1):71-8.
. Complete sequence of a 38.4-kb human cosmid insert containing the polymorphic marker DXS455 from Xq28. DNA Seq. 1995 ;5(4):219-23.
. Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci. Mamm Genome. 1995 ;6(5):334-8.
. Variability of dopamine D4 receptor (DRD4) gene sequence within and among nonhuman primate species. Proc Natl Acad Sci U S A. 1995 ;92(2):427-31.
. Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Hum Mol Genet. 1996 ;5(7):899-912.
. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat Genet. 1996 ;13(1):109-13.
. Potential salmon sperm origin of the E3 region insert of the adenovirus 5 dl309 mutant. Cancer Gene Ther. 1996 ;3(3):151-4.
. . Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains. Genome Res. 1997 ;7(4):315-29.
. Sequencing and functional analysis of the SNRPN promoter: in vitro methylation abolishes promoter activity. Genome Res. 1997 ;7(6):642-8.
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A BAC-based physical map of the major autosomes of Drosophila melanogaster. Science. 2000 ;287(5461):2271-4.
. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet. 2000 ;26(2):191-4.
. Initial sequencing and analysis of the human genome. Nature. 2001 ;409(6822):860-921.
. A physical map of the human genome. Nature. 2001 ;409(6822):934-41.
. Initial sequencing and comparative analysis of the mouse genome. Nature. 2002 ;420(6915):520-62.
. Using a pericentromeric interspersed repeat to recapitulate the phylogeny and expansion of human centromeric segmental duplications. Mol Biol Evol. 2003 ;20(9):1463-79.
. Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. Am J Hum Genet. 2004 ;74(6):1216-24.
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