Young TL - Search Results

1

Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.

Pater JA, Penney C, O'Rielly DD, Griffin A, Kamal L, Brownstein Z, Vona B, Vinkler C, Shohat M, Barel O, French CR, Singh S, Werdyani S, Burt T, Abdelfatah N, Houston J, Doucette LP, Squires J, Glaser F, Roslin NM, Vincent D, Marquis P, Woodland G, Benoukraf T, Hawkey-Noble A, Avraham KB, Stanton SG, Young TL. Pater JA, et al. Among authors: young tl. Hum Genet. 2022 Apr;141(3-4):431-444. doi: 10.1007/s00439-022-02444-x. Epub 2022 Mar 12. Hum Genet. 2022. PMID: 35278131 Free PMC article.

2

Hereditary nonpolyposis colon cancer: analysis of linkage to 2p15-16 places the COCA1 locus telomeric to D2S123 and reveals genetic heterogeneity in seven Canadian families.

Green RC, Narod SA, Morasse J, Young TL, Cox J, Fitzgerald GW, Tonin P, Ginsburg O, Miller S, Jothy S, et al. Green RC, et al. Among authors: young tl. Am J Hum Genet. 1994 Jun;54(6):1067-77. Am J Hum Genet. 1994. PMID: 8198129 Free PMC article.

3

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

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

Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.

Doucette L, Green J, Black C, Schwartzentruber J, Johnson GJ, Galutira D, Young TL. Doucette L, et al. Among authors: young tl. Ophthalmic Genet. 2013 Sep;34(3):119-29. doi: 10.3109/13816810.2013.763993. Epub 2013 Jan 30. Ophthalmic Genet. 2013. PMID: 23362848

8

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.

9

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

10

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.

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