Belmont JW - Search Results

1

Reassessment of biochemically determined Hunter syndrome carrier status by DNA testing.

Timms KM, Edwards FJ, Belmont JW, Yates JR, Gibbs RA. Timms KM, et al. Among authors: belmont jw. J Med Genet. 1998 Aug;35(8):646-9. doi: 10.1136/jmg.35.8.646. J Med Genet. 1998. PMID: 9719370 Free PMC article.

2

Application of carrier testing to genetic counseling for X-linked agammaglobulinemia.

Allen RC, Nachtman RG, Rosenblatt HM, Belmont JW. Allen RC, et al. Among authors: belmont jw. Am J Hum Genet. 1994 Jan;54(1):25-35. Am J Hum Genet. 1994. PMID: 7506482 Free PMC article.

3

Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.

Oeltjen JC, Liu X, Lu J, Allen RC, Muzny D, Belmont JW, Gibbs RA. Oeltjen JC, et al. Among authors: belmont jw. Mamm Genome. 1995 May;6(5):334-8. doi: 10.1007/BF00364796. Mamm Genome. 1995. PMID: 7626884

4

Large-scale comparative sequence analysis of the human and murine Bruton's tyrosine kinase loci reveals conserved regulatory domains.

Oeltjen JC, Malley TM, Muzny DM, Miller W, Gibbs RA, Belmont JW. Oeltjen JC, et al. Among authors: belmont jw. Genome Res. 1997 Apr;7(4):315-29. doi: 10.1101/gr.7.4.315. Genome Res. 1997. PMID: 9110171 Free article.

5

Comparative sequence analysis of a gene-rich cluster at human chromosome 12p13 and its syntenic region in mouse chromosome 6.

Ansari-Lari MA, Oeltjen JC, Schwartz S, Zhang Z, Muzny DM, Lu J, Gorrell JH, Chinault AC, Belmont JW, Miller W, Gibbs RA. Ansari-Lari MA, et al. Among authors: belmont jw. Genome Res. 1998 Jan;8(1):29-40. Genome Res. 1998. PMID: 9445485 Free article.

6

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: belmont jw. 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

7

Molecular determinants of left and right outflow tract obstruction.

Towbin JA, Belmont J. Towbin JA, et al. Am J Med Genet. 2000 Winter;97(4):297-303. doi: 10.1002/1096-8628(200024)97:4<297::aid-ajmg1280>3.0.co;2-o. Am J Med Genet. 2000. PMID: 11376441 Review.

8

PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R. Maheshwari M, et al. Hum Mutat. 2002 Oct;20(4):298-304. doi: 10.1002/humu.10129. Hum Mutat. 2002. PMID: 12325025

9

Genome-wide linkage disequilibrium and haplotype maps.

Belmont JW, Gibbs RA. Belmont JW, et al. Am J Pharmacogenomics. 2004;4(4):253-62. doi: 10.2165/00129785-200404040-00005. Am J Pharmacogenomics. 2004. PMID: 15287819 Review.

10

Positive selection of a pre-expansion CAG repeat of the human SCA2 gene.

Yu F, Sabeti PC, Hardenbol P, Fu Q, Fry B, Lu X, Ghose S, Vega R, Perez A, Pasternak S, Leal SM, Willis TD, Nelson DL, Belmont J, Gibbs RA. Yu F, et al. PLoS Genet. 2005 Sep;1(3):e41. doi: 10.1371/journal.pgen.0010041. Epub 2005 Sep 30. PLoS Genet. 2005. PMID: 16205789 Free PMC article.

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