Prasad SD - Search Results

1

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

Azaiez H, Chamberlin GP, Fischer SM, Welp CL, Prasad SD, Taggart RT, del Castillo I, Van Camp G, Smith RJ. Azaiez H, et al. Among authors: prasad sd. Hum Mutat. 2004 Oct;24(4):305-11. doi: 10.1002/humu.20084. Hum Mutat. 2004. PMID: 15365987 Free PMC article.

2

Genotype-phenotype correlations for SLC26A4-related deafness.

Azaiez H, Yang T, Prasad S, Sorensen JL, Nishimura CJ, Kimberling WJ, Smith RJ. Azaiez H, et al. Hum Genet. 2007 Dec;122(5):451-7. doi: 10.1007/s00439-007-0415-2. Epub 2007 Aug 10. Hum Genet. 2007. PMID: 17690912 Free PMC article.

3

Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).

Prasad S, Cucci RA, Green GE, Smith RJ. Prasad S, et al. Hum Mutat. 2000 Dec;16(6):502-8. doi: 10.1002/1098-1004(200012)16:6<502::AID-HUMU7>3.0.CO;2-4. Hum Mutat. 2000. PMID: 11102979

4

Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.

Prasad S, Kölln KA, Cucci RA, Trembath RC, Van Camp G, Smith RJ. Prasad S, et al. Am J Med Genet A. 2004 Jan 1;124A(1):1-9. doi: 10.1002/ajmg.a.20272. Am J Med Genet A. 2004. PMID: 14679580

5

Clinical presentation of DFNB1.

McGuirt WT, Prasad SD, Cucci RA, Green GE, Smith RJ. McGuirt WT, et al. Among authors: prasad sd. Adv Otorhinolaryngol. 2002;61:113-9. doi: 10.1159/000066821. Adv Otorhinolaryngol. 2002. PMID: 12408072 No abstract available.

6

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.

Wayne S, Robertson NG, DeClau F, Chen N, Verhoeven K, Prasad S, Tranebjärg L, Morton CC, Ryan AF, Van Camp G, Smith RJ. Wayne S, et al. Hum Mol Genet. 2001 Feb 1;10(3):195-200. doi: 10.1093/hmg/10.3.195. Hum Mol Genet. 2001. PMID: 11159937

7

The M34T allele variant of connexin 26.

Cucci RA, Prasad S, Kelley PM, Green GE, Storm K, Willocx S, Cohn ES, Van Camp G, Smith RJ. Cucci RA, et al. Genet Test. 2000;4(4):335-44. doi: 10.1089/109065700750065063. Genet Test. 2000. PMID: 11216656

8

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

Campbell C, Cucci RA, Prasad S, Green GE, Edeal JB, Galer CE, Karniski LP, Sheffield VC, Smith RJ. Campbell C, et al. Hum Mutat. 2001 May;17(5):403-11. doi: 10.1002/humu.1116. Hum Mutat. 2001. PMID: 11317356

9

A genotype-phenotype correlation for GJB2 (connexin 26) deafness.

Cryns K, Orzan E, Murgia A, Huygen PL, Moreno F, del Castillo I, Chamberlin GP, Azaiez H, Prasad S, Cucci RA, Leonardi E, Snoeckx RL, Govaerts PJ, Van de Heyning PH, Van de Heyning CM, Smith RJ, Van Camp G. Cryns K, et al. J Med Genet. 2004 Mar;41(3):147-54. doi: 10.1136/jmg.2003.013896. J Med Genet. 2004. PMID: 14985372 Free PMC article.

10

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

Van Laer L, Coucke P, Mueller RF, Caethoven G, Flothmann K, Prasad SD, Chamberlin GP, Houseman M, Taylor GR, Van de Heyning CM, Fransen E, Rowland J, Cucci RA, Smith RJ, Van Camp G. Van Laer L, et al. Among authors: prasad sd. J Med Genet. 2001 Aug;38(8):515-8. doi: 10.1136/jmg.38.8.515. J Med Genet. 2001. PMID: 11483639 Free PMC article.

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