Ploplis B - Search Results

1

Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39.

Schultz JM, Khan SN, Ahmed ZM, Riazuddin S, Waryah AM, Chhatre D, Starost MF, Ploplis B, Buckley S, Velásquez D, Kabra M, Lee K, Hassan MJ, Ali G, Ansar M, Ghosh M, Wilcox ER, Ahmad W, Merlino G, Leal SM, Riazuddin S, Friedman TB, Morell RJ. Schultz JM, et al. Among authors: ploplis b. Am J Hum Genet. 2009 Jul;85(1):25-39. doi: 10.1016/j.ajhg.2009.06.003. Epub 2009 Jul 2. Am J Hum Genet. 2009. PMID: 19576567 Free PMC article.

2

Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

Ahmed ZM, Li XC, Powell SD, Riazuddin S, Young TL, Ramzan K, Ahmad Z, Luscombe S, Dhillon K, MacLaren L, Ploplis B, Shotland LI, Ives E, Riazuddin S, Friedman TB, Morell RJ, Wilcox ER. Ahmed ZM, et al. Among authors: ploplis b. BMC Med Genet. 2004 Sep 24;5:24. doi: 10.1186/1471-2350-5-24. BMC Med Genet. 2004. PMID: 15447792 Free PMC article.

3

Further elucidation of the genomic structure of PAX3, and identification of two different point mutations within the PAX3 homeobox that cause Waardenburg syndrome type 1 in two families.

Lalwani AK, Brister JR, Fex J, Grundfast KM, Ploplis B, San Agustin TB, Wilcox ER. Lalwani AK, et al. Among authors: ploplis b. Am J Hum Genet. 1995 Jan;56(1):75-83. Am J Hum Genet. 1995. PMID: 7825605 Free PMC article.

4

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

Lalwani AK, Brister JR, Fex J, Grundfast KM, Pikus AT, Ploplis B, San Agustin T, Skarka H, Wilcox ER. Lalwani AK, et al. Among authors: ploplis b. Am J Hum Genet. 1994 Oct;55(4):685-94. Am J Hum Genet. 1994. PMID: 7942846 Free PMC article.

5

Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29.

Wilcox ER, Burton QL, Naz S, Riazuddin S, Smith TN, Ploplis B, Belyantseva I, Ben-Yosef T, Liburd NA, Morell RJ, Kachar B, Wu DK, Griffith AJ, Riazuddin S, Friedman TB. Wilcox ER, et al. Among authors: ploplis b. Cell. 2001 Jan 12;104(1):165-72. doi: 10.1016/s0092-8674(01)00200-8. Cell. 2001. PMID: 11163249 Free article.

6

The PAX3 gene is mapped to human chromosome 2 together with a highly informative CA dinucleotide repeat.

Wilcox ER, Rivolta MN, Ploplis B, Potterf SB, Fex J. Wilcox ER, et al. Among authors: ploplis b. Hum Mol Genet. 1992 Jun;1(3):215. doi: 10.1093/hmg/1.3.215-a. Hum Mol Genet. 1992. PMID: 1303187 No abstract available.

7

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3.

Lesperance MM, Hall JW 3rd, Bess FH, Fukushima K, Jain PK, Ploplis B, San Agustin TB, Skarka H, Smith RJ, Wills M, et al. Lesperance MM, et al. Among authors: ploplis b. Hum Mol Genet. 1995 Oct;4(10):1967-72. doi: 10.1093/hmg/4.10.1967. Hum Mol Genet. 1995. PMID: 8595423

8

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.

Watanabe A, Takeda K, Ploplis B, Tachibana M. Watanabe A, et al. Among authors: ploplis b. Nat Genet. 1998 Mar;18(3):283-6. doi: 10.1038/ng0398-283. Nat Genet. 1998. PMID: 9500554

9

Assignment of the gene for a ubiquitin-conjugating enzyme (UBE2I) to human chromosome band 16p13.3 by in situ hybridization.

Tachibana M, Iwata N, Watanabe A, Nobukuni Y, Ploplis B, Kajigaya S. Tachibana M, et al. Among authors: ploplis b. Cytogenet Cell Genet. 1996;75(4):222-3. doi: 10.1159/000134487. Cytogenet Cell Genet. 1996. PMID: 9067428 No abstract available.

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