Li L - Search Results

1

Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC).

Li L, McVety S, Younan R, Liang P, Du Sart D, Gordon PH, Hutter P, Hogervorst FB, Chong G, Foulkes WD. Li L, et al. Hum Mutat. 2006 Apr;27(4):388. doi: 10.1002/humu.9417. Hum Mutat. 2006. PMID: 16541406

2

The value of multi-modal gene screening in HNPCC in Quebec: three mutations in mismatch repair genes that would have not been correctly identified by genomic DNA sequencing alone.

McVety S, Li L, Thiffault I, Gordon PH, Macnamara E, Wong N, Australie K, Kasprzak L, Chong G, Foulkes WD. McVety S, et al. Among authors: li l. Fam Cancer. 2006;5(1):21-8. doi: 10.1007/s10689-005-2572-6. Fam Cancer. 2006. PMID: 16528605

3

Functional redundancy of exon 12 of BRCA2 revealed by a comprehensive analysis of the c.6853A>G (p.I2285V) variant.

Li L, Biswas K, Habib LA, Kuznetsov SG, Hamel N, Kirchhoff T, Wong N, Armel S, Chong G, Narod SA, Claes K, Offit K, Robson ME, Stauffer S, Sharan SK, Foulkes WD. Li L, et al. Hum Mutat. 2009 Nov;30(11):1543-50. doi: 10.1002/humu.21101. Hum Mutat. 2009. PMID: 19795481 Free PMC article.

4

Novel genomic insertion-- deletion in MLH1: possible mechanistic role for non-homologous end-joining DNA repair.

McVety S, Younan R, Li L, Gordon PH, Wong N, Foulkes WD, Chong G. McVety S, et al. Among authors: li l. Clin Genet. 2005 Sep;68(3):234-8. doi: 10.1111/j.1399-0004.2005.00486.x. Clin Genet. 2005. PMID: 16098012

5

Rare germline mutations in PALB2 and breast cancer risk: a population-based study.

Tischkowitz M, Capanu M, Sabbaghian N, Li L, Liang X, Vallée MP, Tavtigian SV, Concannon P, Foulkes WD, Bernstein L; WECARE Study Collaborative Group; Bernstein JL, Begg CB. Tischkowitz M, et al. Among authors: li l. Hum Mutat. 2012 Apr;33(4):674-80. doi: 10.1002/humu.22022. Epub 2012 Feb 15. Hum Mutat. 2012. PMID: 22241545 Free PMC article.

6

Disruption of an exon splicing enhancer in exon 3 of MLH1 is the cause of HNPCC in a Quebec family.

McVety S, Li L, Gordon PH, Chong G, Foulkes WD. McVety S, et al. Among authors: li l. J Med Genet. 2006 Feb;43(2):153-6. doi: 10.1136/jmg.2005.031997. Epub 2005 May 27. J Med Genet. 2006. PMID: 15923275 Free PMC article.

7

Analysis of PALB2/FANCN-associated breast cancer families.

Tischkowitz M, Xia B, Sabbaghian N, Reis-Filho JS, Hamel N, Li G, van Beers EH, Li L, Khalil T, Quenneville LA, Omeroglu A, Poll A, Lepage P, Wong N, Nederlof PM, Ashworth A, Tonin PN, Narod SA, Livingston DM, Foulkes WD. Tischkowitz M, et al. Among authors: li g, li l. Proc Natl Acad Sci U S A. 2007 Apr 17;104(16):6788-93. doi: 10.1073/pnas.0701724104. Epub 2007 Apr 9. Proc Natl Acad Sci U S A. 2007. PMID: 17420451 Free PMC article.

8

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD. Li L, et al. J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17. J Med Genet. 2015. PMID: 25691505

9

Exome profiling of primary, metastatic and recurrent ovarian carcinomas in a BRCA1-positive patient.

Zhang J, Shi Y, Lalonde E, Li L, Cavallone L, Ferenczy A, Gotlieb WH, Foulkes WD, Majewski J. Zhang J, et al. Among authors: li l. BMC Cancer. 2013 Mar 22;13:146. doi: 10.1186/1471-2407-13-146. BMC Cancer. 2013. PMID: 23522120 Free PMC article.

10

Identification of gene fusion transcripts by transcriptome sequencing in BRCA1-mutated breast cancers and cell lines.

Ha KC, Lalonde E, Li L, Cavallone L, Natrajan R, Lambros MB, Mitsopoulos C, Hakas J, Kozarewa I, Fenwick K, Lord CJ, Ashworth A, Vincent-Salomon A, Basik M, Reis-Filho JS, Majewski J, Foulkes WD. Ha KC, et al. Among authors: li l. BMC Med Genomics. 2011 Oct 27;4:75. doi: 10.1186/1755-8794-4-75. BMC Med Genomics. 2011. PMID: 22032724 Free PMC article.

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