Polychronakos C - Search Results

1

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing.

Lalonde E, Albrecht S, Ha KC, Jacob K, Bolduc N, Polychronakos C, Dechelotte P, Majewski J, Jabado N. Lalonde E, et al. Among authors: polychronakos c. Hum Mutat. 2010 Aug;31(8):918-23. doi: 10.1002/humu.21293. Hum Mutat. 2010. PMID: 20518025

2

Strand bias in complementary single-nucleotide polymorphisms of transcribed human sequences: evidence for functional effects of synonymous polymorphisms.

Qu HQ, Lawrence SG, Guo F, Majewski J, Polychronakos C. Qu HQ, et al. Among authors: polychronakos c. BMC Genomics. 2006 Aug 17;7:213. doi: 10.1186/1471-2164-7-213. BMC Genomics. 2006. PMID: 16916449 Free PMC article.

3

Genome-wide profiling using single-nucleotide polymorphism arrays identifies novel chromosomal imbalances in pediatric glioblastomas.

Qu HQ, Jacob K, Fatet S, Ge B, Barnett D, Delattre O, Faury D, Montpetit A, Solomon L, Hauser P, Garami M, Bognar L, Hansely Z, Mio R, Farmer JP, Albrecht S, Polychronakos C, Hawkins C, Jabado N. Qu HQ, et al. Among authors: polychronakos c. Neuro Oncol. 2010 Feb;12(2):153-63. doi: 10.1093/neuonc/nop001. Epub 2009 Oct 15. Neuro Oncol. 2010. PMID: 20150382 Free PMC article.

4

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.

Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR; FORGE Canada Consortium; Care4Rare Canada Consortium; Majewski J, Boycott KM. Sawyer SL, et al. Among authors: polychronakos c. Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Clin Genet. 2016. PMID: 26283276 Free PMC article. Review.

5

Neonatal diabetes, with hypoplastic pancreas, intestinal atresia and gall bladder hypoplasia: search for the aetiology of a new autosomal recessive syndrome.

Mitchell J, Punthakee Z, Lo B, Bernard C, Chong K, Newman C, Cartier L, Desilets V, Cutz E, Hansen IL, Riley P, Polychronakos C. Mitchell J, et al. Among authors: polychronakos c. Diabetologia. 2004 Dec;47(12):2160-7. doi: 10.1007/s00125-004-1576-3. Epub 2004 Dec 8. Diabetologia. 2004. PMID: 15592663

6

Common and rare alleles as causes of complex phenotypes.

Polychronakos C. Polychronakos C. Curr Atheroscler Rep. 2008 Jun;10(3):194-200. doi: 10.1007/s11883-008-0031-1. Curr Atheroscler Rep. 2008. PMID: 18489846 Review.

7

Identification of susceptibility genes for complex diseases using pooling-based genome-wide association scans.

Bossé Y, Bacot F, Montpetit A, Rung J, Qu HQ, Engert JC, Polychronakos C, Hudson TJ, Froguel P, Sladek R, Desrosiers M. Bossé Y, et al. Among authors: polychronakos c. Hum Genet. 2009 Apr;125(3):305-18. doi: 10.1007/s00439-009-0626-9. Epub 2009 Jan 29. Hum Genet. 2009. PMID: 19184112

8

In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium.

Qu HQ, Bradfield JP, Li Q, Kim C, Frackelton E, Grant SF, Hakonarson H, Polychronakos C. Qu HQ, et al. Among authors: polychronakos c. Hum Mol Genet. 2010 Jun 15;19(12):2534-8. doi: 10.1093/hmg/ddq133. Epub 2010 Apr 8. Hum Mol Genet. 2010. PMID: 20378605

9

Somatic point mutations occurring early in development: a monozygotic twin study.

Li R, Montpetit A, Rousseau M, Wu SY, Greenwood CM, Spector TD, Pollak M, Polychronakos C, Richards JB. Li R, et al. Among authors: polychronakos c. J Med Genet. 2014 Jan;51(1):28-34. doi: 10.1136/jmedgenet-2013-101712. Epub 2013 Oct 11. J Med Genet. 2014. PMID: 24123875

10

A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.

Rousseau-Nepton I, Okubo M, Grabs R; FORGE Canada Consortium; Mitchell J, Polychronakos C, Rodd C. Rousseau-Nepton I, et al. Among authors: polychronakos c. CMAJ. 2015 Feb 3;187(2):E68-E73. doi: 10.1503/cmaj.140840. Epub 2015 Jan 19. CMAJ. 2015. PMID: 25602008 Free PMC article.

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