Blanton SH - Search Results

1

Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

Pandya A, Arnos KS, Xia XJ, Welch KO, Blanton SH, Friedman TB, Garcia Sanchez G, Liu MD XZ, Morell R, Nance WE. Pandya A, et al. Among authors: blanton sh. Genet Med. 2003 Jul-Aug;5(4):295-303. doi: 10.1097/01.GIM.0000078026.01140.68. Genet Med. 2003. PMID: 12865758

2

Vestibular dysfunction in DFNB1 deafness.

Dodson KM, Blanton SH, Welch KO, Norris VW, Nuzzo RL, Wegelin JA, Marin RS, Nance WE, Pandya A, Arnos KS. Dodson KM, et al. Among authors: blanton sh. Am J Med Genet A. 2011 May;155A(5):993-1000. doi: 10.1002/ajmg.a.33828. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465647 Free PMC article.

3

Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss.

Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE. Liu XZ, et al. Among authors: blanton sh. Hum Mol Genet. 2000 Jan 1;9(1):63-7. doi: 10.1093/hmg/9.1.63. Hum Mol Genet. 2000. PMID: 10587579

4

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians.

Tekin M, Akar N, Cin S, Blanton SH, Xia XJ, Liu XZ, Nance WE, Pandya A. Tekin M, et al. Among authors: blanton sh. Hum Genet. 2001 May;108(5):385-9. doi: 10.1007/s004390100507. Hum Genet. 2001. PMID: 11409864

5

Fitness among individuals with early childhood deafness: Studies in alumni families from Gallaudet University.

Blanton SH, Nance WE, Norris VW, Welch KO, Burt A, Pandya A, Arnos KS. Blanton SH, et al. Ann Hum Genet. 2010 Jan;74(1):27-33. doi: 10.1111/j.1469-1809.2009.00553.x. Epub 2009 Nov 20. Ann Hum Genet. 2010. PMID: 19930248 Free PMC article.

6

Education in the genetics of hearing loss: a survey of early hearing detection and intervention programs.

Burton SK, Blanton SH, Culpepper B, White KR, Pandya A, Nance WE, Arnos KS. Burton SK, et al. Among authors: blanton sh. Genet Med. 2006 Aug;8(8):510-7. doi: 10.1097/01.gim.0000232462.55966.92. Genet Med. 2006. PMID: 16912582 Free article.

7

A comparative analysis of the genetic epidemiology of deafness in the United States in two sets of pedigrees collected more than a century apart.

Arnos KS, Welch KO, Tekin M, Norris VW, Blanton SH, Pandya A, Nance WE. Arnos KS, et al. Among authors: blanton sh. Am J Hum Genet. 2008 Aug;83(2):200-7. doi: 10.1016/j.ajhg.2008.07.001. Epub 2008 Jul 24. Am J Hum Genet. 2008. PMID: 18656178 Free PMC article.

8

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?

Pandya A, Xia XJ, Landa BL, Arnos KS, Israel J, Lloyd J, James AL, Diehl SR, Blanton SH, Nance WE. Pandya A, et al. Among authors: blanton sh. Hum Mol Genet. 1996 Apr;5(4):497-502. doi: 10.1093/hmg/5.4.497. Hum Mol Genet. 1996. PMID: 8845842

9

Chudley-McCullough syndrome: expanded phenotype and review of the literature.

Welch KO, Tekin M, Nance WE, Blanton SH, Arnos KS, Pandya A. Welch KO, et al. Among authors: blanton sh. Am J Med Genet A. 2003 May 15;119A(1):71-6. doi: 10.1002/ajmg.a.10180. Am J Med Genet A. 2003. PMID: 12707963

10

Implications of molecular diagnostic testing in families with hereditary pancreatitis.

Pandya A, Xia XJ, Blanton SH, Landa B, Markello T, Nance WE. Pandya A, et al. Among authors: blanton sh. Genet Test. 1997-1998;1(3):207-11. doi: 10.1089/gte.1997.1.207. Genet Test. 1997. PMID: 10464647

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

216 results

Search Page