Young TL - Search Results

1

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.

Young TL, Ives E, Lynch E, Person R, Snook S, MacLaren L, Cater T, Griffin A, Fernandez B, Lee MK, King MC. Young TL, et al. Hum Mol Genet. 2001 Oct 15;10(22):2509-14. doi: 10.1093/hmg/10.22.2509. Hum Mol Genet. 2001. PMID: 11709538

2

A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.

Young TL, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS. Young TL, et al. Am J Hum Genet. 1999 Dec;65(6):1680-7. doi: 10.1086/302686. Am J Hum Genet. 1999. PMID: 10577922 Free PMC article.

3

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: young tl. BMC Med Genet. 2004 Sep 24;5:24. doi: 10.1186/1471-2350-5-24. BMC Med Genet. 2004. PMID: 15447792 Free PMC article.

4

Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.

Doucette L, Merner ND, Cooke S, Ives E, Galutira D, Walsh V, Walsh T, MacLaren L, Cater T, Fernandez B, Green JS, Wilcox ER, Shotland LI, Li XC, Lee M, King MC, Young TL. Doucette L, et al. Among authors: young tl. Eur J Hum Genet. 2009 May;17(5):554-64. doi: 10.1038/ejhg.2008.231. Epub 2008 Dec 24. Eur J Hum Genet. 2009. PMID: 19107147 Free PMC article.

5

A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly.

Doucette L, Green J, Fernandez B, Johnson GJ, Parfrey P, Young TL. Doucette L, et al. Among authors: young tl. Eur J Hum Genet. 2011 Mar;19(3):293-9. doi: 10.1038/ejhg.2010.210. Epub 2010 Dec 8. Eur J Hum Genet. 2011. PMID: 21150893 Free PMC article.

6

A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect.

Abdelfatah N, Merner N, Houston J, Benteau T, Griffin A, Doucette L, Stockley T, Lauzon JL, Young TL. Abdelfatah N, et al. Among authors: young tl. Hum Mutat. 2013 Jan;34(1):66-9. doi: 10.1002/humu.22205. Epub 2012 Oct 11. Hum Mutat. 2013. PMID: 22911656

7

Identification of a novel in-frame deletion in KCNQ4 (DFNA2A) and evidence of multiple phenocopies of unknown origin in a family with ADSNHL.

Abdelfatah N, McComiskey DA, Doucette L, Griffin A, Moore SJ, Negrijn C, Hodgkinson KA, King JJ, Larijani M, Houston J, Stanton SG, Young TL. Abdelfatah N, et al. Among authors: young tl. Eur J Hum Genet. 2013 Oct;21(10):1112-9. doi: 10.1038/ejhg.2013.5. Epub 2013 Feb 27. Eur J Hum Genet. 2013. PMID: 23443030 Free PMC article.

8

X-linked hearing loss: two gene mutation examples provide generalizable implications for clinical care.

Stanton SG, Griffin A, Stockley TL, Brown C, Young TL, Benteau T, Abdelfatah N. Stanton SG, et al. Among authors: young tl. Am J Audiol. 2014 Jun;23(2):190-200. doi: 10.1044/2014_AJA-13-0040. Am J Audiol. 2014. PMID: 24687041

9

A common variant in CLDN14 causes precipitous, prelingual sensorineural hearing loss in multiple families due to founder effect.

Pater JA, Benteau T, Griffin A, Penney C, Stanton SG, Predham S, Kielley B, Squires J, Zhou J, Li Q, Abdelfatah N, O'Rielly DD, Young TL. Pater JA, et al. Among authors: young tl. Hum Genet. 2017 Jan;136(1):107-118. doi: 10.1007/s00439-016-1746-7. Epub 2016 Nov 12. Hum Genet. 2017. PMID: 27838790 Free PMC article.

10

Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.

Pater JA, Green J, O'Rielly DD, Griffin A, Squires J, Burt T, Fernandez S, Fernandez B, Houston J, Zhou J, Roslin NM, Young TL. Pater JA, et al. Among authors: young tl. BMC Med Genet. 2019 May 2;20(1):68. doi: 10.1186/s12881-019-0777-z. BMC Med Genet. 2019. PMID: 31046701 Free PMC article.

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