Belmont JW - Search Results

1

22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.

Ben-Shachar S, Ou Z, Shaw CA, Belmont JW, Patel MS, Hummel M, Amato S, Tartaglia N, Berg J, Sutton VR, Lalani SR, Chinault AC, Cheung SW, Lupski JR, Patel A. Ben-Shachar S, et al. Among authors: belmont jw. Am J Hum Genet. 2008 Jan;82(1):214-21. doi: 10.1016/j.ajhg.2007.09.014. Am J Hum Genet. 2008. PMID: 18179902 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

Trinucleotide repeat polymorphism at DXS101.

Allen RC, Belmont JW. Allen RC, et al. Among authors: belmont jw. Hum Mol Genet. 1993 Sep;2(9):1508. doi: 10.1093/hmg/2.9.1508-a. Hum Mol Genet. 1993. PMID: 8242088 No abstract available.

4

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.

5

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

6

The molecular basis of vascular disorders.

Towbin JA, Casey B, Belmont J. Towbin JA, et al. Am J Hum Genet. 1999 Mar;64(3):678-84. doi: 10.1086/302303. Am J Hum Genet. 1999. PMID: 10053000 Free PMC article. Review. No abstract available.

7

Characterization and mutation analysis of human LEFTY A and LEFTY B, homologues of murine genes implicated in left-right axis development.

Kosaki K, Bassi MT, Kosaki R, Lewin M, Belmont J, Schauer G, Casey B. Kosaki K, et al. Am J Hum Genet. 1999 Mar;64(3):712-21. doi: 10.1086/302289. Am J Hum Genet. 1999. PMID: 10053005 Free PMC article.

8

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.

9

Toward a genetic etiology of CHARGE syndrome: I. A systematic scan for submicroscopic deletions.

Lalani SR, Stockton DW, Bacino C, Molinari LM, Glass NL, Fernbach SD, Towbin JA, Craigen WJ, Graham JM Jr, Hefner MA, Lin AE, McBride KL, Davenport SL, Belmont JW. Lalani SR, et al. Among authors: belmont jw. Am J Med Genet A. 2003 Apr 30;118A(3):260-6. doi: 10.1002/ajmg.a.20002. Am J Med Genet A. 2003. PMID: 12673657

10

Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.

Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR. Szigeti K, et al. Among authors: belmont jw. Ann Neurol. 2003 Sep;54(3):398-402. doi: 10.1002/ana.10681. Ann Neurol. 2003. PMID: 12953275

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