Gibbs RA - Search Results

1

Somatic sequence variation at the Friedreich ataxia locus includes complete contraction of the expanded GAA triplet repeat, significant length variation in serially passaged lymphoblasts and enhanced mutagenesis in the flanking sequence.

Bidichandani SI, Purandare SM, Taylor EE, Gumin G, Machkhas H, Harati Y, Gibbs RA, Ashizawa T, Patel PI. Bidichandani SI, et al. Among authors: gibbs ra. Hum Mol Genet. 1999 Dec;8(13):2425-36. doi: 10.1093/hmg/8.13.2425. Hum Mol Genet. 1999. PMID: 10556290

2

Fine structure of the human FMR1 gene.

Eichler EE, Richards S, Gibbs RA, Nelson DL. Eichler EE, et al. Among authors: gibbs ra. Hum Mol Genet. 1993 Aug;2(8):1147-53. doi: 10.1093/hmg/2.8.1147. Hum Mol Genet. 1993. PMID: 8401496

3

Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy.

Fu YH, Friedman DL, Richards S, Pearlman JA, Gibbs RA, Pizzuti A, Ashizawa T, Perryman MB, Scarlato G, Fenwick RG Jr, et al. Fu YH, et al. Among authors: gibbs ra. Science. 1993 Apr 9;260(5105):235-8. doi: 10.1126/science.8469976. Science. 1993. PMID: 8469976

4

Carrier detection and prenatal diagnosis in Duchenne and Becker muscular dystrophy families, using dinucleotide repeat polymorphisms.

Clemens PR, Fenwick RG, Chamberlain JS, Gibbs RA, de Andrade M, Chakraborty R, Caskey CT. Clemens PR, et al. Among authors: gibbs ra. Am J Hum Genet. 1991 Nov;49(5):951-60. Am J Hum Genet. 1991. PMID: 1928100 Free PMC article.

5

Molecular and phenotypic variation in patients with severe Hunter syndrome.

Timms KM, Bondeson ML, Ansari-Lari MA, Lagerstedt K, Muzny DM, Dugan-Rocha SP, Nelson DL, Pettersson U, Gibbs RA. Timms KM, et al. Among authors: gibbs ra. Hum Mol Genet. 1997 Mar;6(3):479-86. doi: 10.1093/hmg/6.3.479. Hum Mol Genet. 1997. PMID: 9147653

6

The human COX10 gene is disrupted during homologous recombination between the 24 kb proximal and distal CMT1A-REPs.

Reiter LT, Murakami T, Koeuth T, Gibbs RA, Lupski JR. Reiter LT, et al. Among authors: gibbs ra. Hum Mol Genet. 1997 Sep;6(9):1595-603. doi: 10.1093/hmg/6.9.1595. Hum Mol Genet. 1997. PMID: 9285799

7

Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution.

Eichler EE, Lu F, Shen Y, Antonacci R, Jurecic V, Doggett NA, Moyzis RK, Baldini A, Gibbs RA, Nelson DL. Eichler EE, et al. Among authors: gibbs ra. Hum Mol Genet. 1996 Jul;5(7):899-912. doi: 10.1093/hmg/5.7.899. Hum Mol Genet. 1996. PMID: 8817324

8

DNA deletion confined to the iduronate-2-sulfatase promoter abolishes IDS gene expression.

Timms KM, Huckett LE, Belmont JW, Shapira SK, Gibbs RA. Timms KM, et al. Among authors: gibbs ra. Hum Mutat. 1998;11(2):121-6. doi: 10.1002/(SICI)1098-1004(1998)11:2<121::AID-HUMU4>3.0.CO;2-M. Hum Mutat. 1998. PMID: 9482575

9

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island.

Gu Y, Shen Y, Gibbs RA, Nelson DL. Gu Y, et al. Among authors: gibbs ra. Nat Genet. 1996 May;13(1):109-13. doi: 10.1038/ng0596-109. Nat Genet. 1996. PMID: 8673086

10

Pentanucleotide repeat length polymorphism at the human CD4 locus.

Edwards MC, Clemens PR, Tristan M, Pizzuti A, Gibbs RA. Edwards MC, et al. Among authors: gibbs ra. Nucleic Acids Res. 1991 Sep 11;19(17):4791. doi: 10.1093/nar/19.17.4791-a. Nucleic Acids Res. 1991. PMID: 1891380 Free PMC article.

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