Young TL - Search Results

1

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.

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

Evidence that a locus for familial high myopia maps to chromosome 18p.

Young TL, Ronan SM, Drahozal LA, Wildenberg SC, Alvear AB, Oetting WS, Atwood LD, Wilkin DJ, King RA. Young TL, et al. Am J Hum Genet. 1998 Jul;63(1):109-19. doi: 10.1086/301907. Am J Hum Genet. 1998. PMID: 9634508 Free PMC article.

4

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

Young TL, Woods MO, Parfrey PS, Green JS, O'Leary E, Hefferton D, Davidson WS. Young TL, et al. Am J Med Genet. 1998 Aug 6;78(5):461-7. doi: 10.1002/(sici)1096-8628(19980806)78:5<461::aid-ajmg12>3.0.co;2-d. Am J Med Genet. 1998. PMID: 9714014

5

Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus.

Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS. Woods MO, et al. Among authors: young tl. Genomics. 1999 Jan 1;55(1):2-9. doi: 10.1006/geno.1998.5626. Genomics. 1999. PMID: 9888993

6

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31.

Young TL, Penney L, Woods MO, Parfrey PS, Green JS, Hefferton D, Davidson WS. Young TL, et al. Am J Hum Genet. 1999 Mar;64(3):900-4. doi: 10.1086/302301. Am J Hum Genet. 1999. PMID: 10053027 Free PMC article. No abstract available.

7

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

8

Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.

Merner ND, Hodgkinson KA, Haywood AF, Connors S, French VM, Drenckhahn JD, Kupprion C, Ramadanova K, Thierfelder L, McKenna W, Gallagher B, Morris-Larkin L, Bassett AS, Parfrey PS, Young TL. Merner ND, et al. Among authors: young tl. Am J Hum Genet. 2008 Apr;82(4):809-21. doi: 10.1016/j.ajhg.2008.01.010. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18313022 Free PMC article.

9

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.

10

Autosomal recessive Bardet-Biedl syndrome: first-degree relatives have no predisposition to metabolic and renal disorders.

Webb MP, Dicks EL, Green JS, Moore SJ, Warden GM, Gamberg JS, Davidson WS, Young TL, Parfrey PS. Webb MP, et al. Among authors: young tl. Kidney Int. 2009 Jul;76(2):215-23. doi: 10.1038/ki.2009.116. Epub 2009 Apr 15. Kidney Int. 2009. PMID: 19367329 Free article.

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