Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 181

1.

Clonal copy-number mosaicism in autoreactive T lymphocytes in diabetic NOD mice.

Alriyami M, Marchand L, Li Q, Du X, Olivier M, Polychronakos C.

Genome Res. 2019 Dec;29(12):1951-1961. doi: 10.1101/gr.247882.118. Epub 2019 Nov 6.

2.

High Prevalence of a Monogenic Cause in Han Chinese Diagnosed With Type 1 Diabetes, Partly Driven by Nonsyndromic Recessive WFS1 Mutations.

Li M, Wang S, Xu K, Chen Y, Fu Q, Gu Y, Shi Y, Zhang M, Sun M, Chen H, Han X, Li Y, Tang Z, Cai L, Li Z, Shi Y, Yang T, Polychronakos C.

Diabetes. 2020 Jan;69(1):121-126. doi: 10.2337/db19-0510. Epub 2019 Oct 28.

PMID:
31658956
3.

Endocrine abnormalities in cardiofaciocutaneous syndrome: a case of precocious puberty, hyperprolactinemia and diabetes insipidus.

Lenet S, Polychronakos C.

BMJ Case Rep. 2019 Jun 18;12(6). pii: e229032. doi: 10.1136/bcr-2018-229032.

PMID:
31217210
4.

Cross-disorder analysis of schizophrenia and 19 immune-mediated diseases identifies shared genetic risk.

Pouget JG; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Han B, Wu Y, Mignot E, Ollila HM, Barker J, Spain S, Dand N, Trembath R, Martin J, Mayes MD, Bossini-Castillo L, López-Isac E, Jin Y, Santorico SA, Spritz RA, Hakonarson H, Polychronakos C, Raychaudhuri S, Knight J.

Hum Mol Genet. 2019 Oct 15;28(20):3498-3513. doi: 10.1093/hmg/ddz145.

5.

Identification of Novel T1D Risk Loci and Their Association With Age and Islet Function at Diagnosis in Autoantibody-Positive T1D Individuals: Based on a Two-Stage Genome-Wide Association Study.

Zhu M, Xu K, Chen Y, Gu Y, Zhang M, Luo F, Liu Y, Gu W, Hu J, Xu H, Xie Z, Sun C, Li Y, Sun M, Xu X, Hsu HT, Chen H, Fu Q, Shi Y, Xu J, Ji L, Liu J, Bian L, Zhu J, Chen S, Xiao L, Li X, Jiang H, Shen M, Huang Q, Fang C, Li X, Huang G, Fan J, Jiang Z, Jiang Y, Dai J, Ma H, Zheng S, Cai Y, Dai H, Zheng X, Zhou H, Ni S, Jin G, She JX, Yu L, Polychronakos C, Hu Z, Zhou Z, Weng J, Shen H, Yang T.

Diabetes Care. 2019 Aug;42(8):1414-1421. doi: 10.2337/dc18-2023. Epub 2019 May 31.

PMID:
31152121
6.

Genetic correlations among psychiatric and immune-related phenotypes based on genome-wide association data.

Tylee DS, Sun J, Hess JL, Tahir MA, Sharma E, Malik R, Worrall BB, Levine AJ, Martinson JJ, Nejentsev S, Speed D, Fischer A, Mick E, Walker BR, Crawford A, Grant SFA, Polychronakos C, Bradfield JP, Sleiman PMA, Hakonarson H, Ellinghaus E, Elder JT, Tsoi LC, Trembath RC, Barker JN, Franke A, Dehghan A; 23 and Me Research Team; Inflammation Working Group of the CHARGE Consortium; METASTROKE Consortium of the International Stroke Genetics Consortium; Netherlands Twin Registry; neuroCHARGE Working Group; Obsessive Compulsive and Tourette Syndrome Working Group of the Psychiatric Genomics Consortium, Faraone SV, Glatt SJ.

Am J Med Genet B Neuropsychiatr Genet. 2018 Oct;177(7):641-657. doi: 10.1002/ajmg.b.32652. Epub 2018 Oct 16.

7.

Genetic variations at the human growth hormone receptor (GHR) gene locus are associated with idiopathic short stature.

Dias C, Giordano M, Frechette R, Bellone S, Polychronakos C, Legault L, Deal CL, Goodyer CG.

J Cell Mol Med. 2017 Nov;21(11):2985-2999. doi: 10.1111/jcmm.13210. Epub 2017 May 29.

8.

The common, autoimmunity-predisposing 620Arg > Trp variant of PTPN22 modulates macrophage function and morphology.

Li M, Beauchemin H, Popovic N, Peterson A, d'Hennezel E, Piccirillo CA, Sun C, Polychronakos C.

J Autoimmun. 2017 May;79:74-83. doi: 10.1016/j.jaut.2017.01.009. Epub 2017 Feb 22.

PMID:
28237724
9.

Guidelines for Growth Hormone and Insulin-Like Growth Factor-I Treatment in Children and Adolescents: Growth Hormone Deficiency, Idiopathic Short Stature, and Primary Insulin-Like Growth Factor-I Deficiency.

Grimberg A, DiVall SA, Polychronakos C, Allen DB, Cohen LE, Quintos JB, Rossi WC, Feudtner C, Murad MH; Drug and Therapeutics Committee and Ethics Committee of the Pediatric Endocrine Society.

Horm Res Paediatr. 2016;86(6):361-397. doi: 10.1159/000452150. Epub 2016 Nov 25.

10.

Central nervous system involvement in multiple symmetric lipomatosis.

Kimiskidis VK, Papaliagkas V, Papagiannopoulos S, Giovos I, Lazaridis L, Kazis DA, Polychronakos C, Geroukis T, Bostantjopoulou S.

J Neurol Sci. 2016 Nov 15;370:27-28. doi: 10.1016/j.jns.2016.09.004. Epub 2016 Sep 8. No abstract available.

PMID:
27772774
11.

Effect of autoimmunity risk loci on the honeymoon phase in type 1 diabetes.

Moosavi M, Séguin J, Polychronakos C.

Pediatr Diabetes. 2017 Sep;18(6):459-462. doi: 10.1111/pedi.12421. Epub 2016 Aug 9.

PMID:
27503178
12.

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study.

Prins BP, Abbasi A, Wong A, Vaez A, Nolte I, Franceschini N, Stuart PE, Guterriez Achury J, Mistry V, Bradfield JP, Valdes AM, Bras J, Shatunov A; PAGE Consortium; International Stroke Genetics Consortium; Systemic Sclerosis consortium; Treat OA consortium; DIAGRAM Consortium; CARDIoGRAMplusC4D Consortium; ALS consortium; International Parkinson’s Disease Genomics Consortium; Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium; CKDGen consortium; GERAD1 Consortium; International Consortium for Blood Pressure; Schizophrenia Working Group of the Psychiatric Genomics Consortium; Inflammation Working Group of the CHARGE Consortium, Lu C, Han B, Raychaudhuri S, Bevan S, Mayes MD, Tsoi LC, Evangelou E, Nair RP, Grant SF, Polychronakos C, Radstake TR, van Heel DA, Dunstan ML, Wood NW, Al-Chalabi A, Dehghan A, Hakonarson H, Markus HS, Elder JT, Knight J, Arking DE, Spector TD, Koeleman BP, van Duijn CM, Martin J, Morris AP, Weersma RK, Wijmenga C, Munroe PB, Perry JR, Pouget JG, Jamshidi Y, Snieder H, Alizadeh BZ.

PLoS Med. 2016 Jun 21;13(6):e1001976. doi: 10.1371/journal.pmed.1001976. eCollection 2016 Jun.

13.

Diabetes in the post-GWAS era.

Polychronakos C, Alriyami M.

Nat Genet. 2015 Dec;47(12):1373-4. doi: 10.1038/ng.3453.

PMID:
26620109
14.

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

Li YR, Zhao SD, Li J, Bradfield JP, Mohebnasab M, Steel L, Kobie J, Abrams DJ, Mentch FD, Glessner JT, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Li D, Maggadottir SM, Thomas KA, Qui H, Chiavacci RM, Kim CE, Wang F, Snyder J, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Strisciuglio C, Staiano A, Miele E, Silverberg MS, Lie BA, Punaro M, Russell RK, Wilson DC, Dubinsky MC, Monos DS, Annese V, Munro JE, Wise C, Chapel H, Cunningham-Rundles C, Orange JS, Behrens EM, Sullivan KE, Kugathasan S, Griffiths AM, Satsangi J, Grant SFA, Sleiman PMA, Finkel TH, Polychronakos C, Baldassano RN, Luning Prak ET, Ellis JA, Li H, Keating BJ, Hakonarson H.

Nat Commun. 2015 Oct 9;6:8442. doi: 10.1038/ncomms9442.

15.

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases.

Li YR, Li J, Zhao SD, Bradfield JP, Mentch FD, Maggadottir SM, Hou C, Abrams DJ, Chang D, Gao F, Guo Y, Wei Z, Connolly JJ, Cardinale CJ, Bakay M, Glessner JT, Li D, Kao C, Thomas KA, Qiu H, Chiavacci RM, Kim CE, Wang F, Snyder J, Richie MD, Flatø B, Førre Ø, Denson LA, Thompson SD, Becker ML, Guthery SL, Latiano A, Perez E, Resnick E, Russell RK, Wilson DC, Silverberg MS, Annese V, Lie BA, Punaro M, Dubinsky MC, Monos DS, Strisciuglio C, Staiano A, Miele E, Kugathasan S, Ellis JA, Munro JE, Sullivan KE, Wise CA, Chapel H, Cunningham-Rundles C, Grant SF, Orange JS, Sleiman PM, Behrens EM, Griffiths AM, Satsangi J, Finkel TH, Keinan A, Prak ET, Polychronakos C, Baldassano RN, Li H, Keating BJ, Hakonarson H.

Nat Med. 2015 Sep;21(9):1018-27. doi: 10.1038/nm.3933. Epub 2015 Aug 24.

16.

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.

Clin Genet. 2016 Mar;89(3):275-84. doi: 10.1111/cge.12654. Epub 2015 Sep 22. Review.

17.

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.

CMAJ. 2015 Feb 3;187(2):E68-E73. doi: 10.1503/cmaj.140840. Epub 2015 Jan 19.

18.

One year remission of type 1 diabetes mellitus in a patient treated with sitagliptin.

Lima-Martínez MM, Guerra-Alcalá E, Contreras M, Nastasi J, Noble JA, Polychronakos C.

Endocrinol Diabetes Metab Case Rep. 2014;2014:140072. doi: 10.1530/EDM-14-0072. Epub 2014 Sep 1.

19.

Gene-specific function prediction for non-synonymous mutations in monogenic diabetes genes.

Li Q, Liu X, Gibbs RA, Boerwinkle E, Polychronakos C, Qu HQ.

PLoS One. 2014 Aug 19;9(8):e104452. doi: 10.1371/journal.pone.0104452. eCollection 2014.

20.

Functional evaluation of the role of C-type lectin domain family 16A at the chromosome 16p13 locus.

Zouk H, D'Hennezel E, Du X, Ounissi-Benkalha H, Piccirillo CA, Polychronakos C.

Clin Exp Immunol. 2014 Mar;175(3):485-97. doi: 10.1111/cei.12240.

21.

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.

J Med Genet. 2014 Jan;51(1):28-34. doi: 10.1136/jmedgenet-2013-101712. Epub 2013 Oct 11.

PMID:
24123875
22.

Functional characterization of the Thr946Ala SNP at the type 1 diabetes IFIH1 locus.

Zouk H, Marchand L, Li Q, Polychronakos C.

Autoimmunity. 2014 Feb;47(1):40-5. doi: 10.3109/08916934.2013.832758. Epub 2013 Oct 14.

PMID:
24117221
23.

Expression profile of a clonal insulin-expressing epithelial cell in the thymus.

Levi D, Polychronakos C.

Mol Immunol. 2013 Dec;56(4):804-10. doi: 10.1016/j.molimm.2013.07.015. Epub 2013 Aug 23.

24.

Yeast one-hybrid screen of a thymus epithelial library identifies ZBTB7A as a regulator of thymic insulin expression.

St-Jean JR, Ounissi-Benkalha H, Polychronakos C.

Mol Immunol. 2013 Dec;56(4):637-42. doi: 10.1016/j.molimm.2013.05.238. Epub 2013 Aug 1.

25.

Genome-wide search for exonic variants affecting translational efficiency.

Li Q, Makri A, Lu Y, Marchand L, Grabs R, Rousseau M, Ounissi-Benkalha H, Pelletier J, Robert F, Harmsen E, Hudson TJ, Pastinen T, Polychronakos C, Qu HQ.

Nat Commun. 2013;4:2260. doi: 10.1038/ncomms3260.

26.

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H.

Hum Genet. 2013 Oct;132(10):1077-130. doi: 10.1007/s00439-013-1331-2. Epub 2013 Jul 3. Review.

27.

Self-antigen expression in thymic epithelial cells in Ifn-γ or Tnf-α deficiency.

Levi D, Polychronakos C.

Cytokine. 2013 Jun;62(3):433-8. doi: 10.1016/j.cyto.2013.03.026. Epub 2013 Apr 15.

PMID:
23597589
28.

Pancreatic islet cell phenotype and endocrine function throughout diabetes development in non-obese diabetic mice.

Kornete M, Beauchemin H, Polychronakos C, Piccirillo CA.

Autoimmunity. 2013 Jun;46(4):259-68. doi: 10.3109/08916934.2012.752462. Epub 2013 Feb 4.

PMID:
23256897
29.

Gene expression as a quantitative trait: what about translation?

Polychronakos C.

J Med Genet. 2012 Sep;49(9):554-7. doi: 10.1136/jmedgenet-2012-101199. Review.

PMID:
22972945
30.

Public funding for genomics: where does Canada stand?

Polychronakos C.

J Med Genet. 2012 Aug;49(8):481-2. doi: 10.1136/jmedgenet-2012-101141. No abstract available.

PMID:
22889850
31.

Overexpression of ZAC impairs glucose-stimulated insulin translation and secretion in clonal pancreatic beta-cells.

Du X, Ounissi-Benkalha H, Loder MK, Rutter GA, Polychronakos C.

Diabetes Metab Res Rev. 2012 Nov;28(8):645-53. doi: 10.1002/dmrr.2325.

32.

Familial clustering strongly suggests that the phenotypic variation of the 8344 A>G lys mitochondrial tRNA mutation is encoded in cis.

Kazakos K, Kotsa K, Yavropoulou M, Dionyssopoulos A, Grabs R, Yovos J, Polychronakos C.

Ann Hum Genet. 2012 Jul;76(4):296-300. doi: 10.1111/j.1469-1809.2012.00711.x.

33.

A new paradigm emerges from the study of de novo mutations in the context of neurodevelopmental disease.

Ku CS, Polychronakos C, Tan EK, Naidoo N, Pawitan Y, Roukos DH, Mort M, Cooper DN.

Mol Psychiatry. 2013 Feb;18(2):141-53. doi: 10.1038/mp.2012.58. Epub 2012 May 29. Review.

PMID:
22641181
34.

The effect of type 2 diabetes risk loci on insulin requirements in type 1 diabetes.

Moosavi M, Séguin J, Li Q, Polychronakos C.

Horm Res Paediatr. 2012;77(5):305-8. doi: 10.1159/000338665. Epub 2012 May 15.

PMID:
22584884
35.

Screening for novel lead compounds increasing insulin expression in medullary thymic epithelial cells.

Yang XY, Levi D, Ounissi-Benkalha H, Yu XY, Qu HQ, Polychronakos C, Du GH.

Eur J Pharmacol. 2012 Aug 5;688(1-3):84-9. doi: 10.1016/j.ejphar.2012.03.047. Epub 2012 Apr 3.

PMID:
22507222
36.

Sequence variation in promoter of Ica1 gene, which encodes protein implicated in type 1 diabetes, causes transcription factor autoimmune regulator (AIRE) to increase its binding and down-regulate expression.

Bonner SM, Pietropaolo SL, Fan Y, Chang Y, Sethupathy P, Morran MP, Beems M, Giannoukakis N, Trucco G, Palumbo MO, Solimena M, Pugliese A, Polychronakos C, Trucco M, Pietropaolo M.

J Biol Chem. 2012 May 18;287(21):17882-93. doi: 10.1074/jbc.M111.319020. Epub 2012 Mar 24.

37.

Exome sequencing: dual role as a discovery and diagnostic tool.

Ku CS, Cooper DN, Polychronakos C, Naidoo N, Wu M, Soong R.

Ann Neurol. 2012 Jan;71(1):5-14. doi: 10.1002/ana.22647. Review.

PMID:
22275248
38.

Unique author identifier; what are we waiting for?

Polychronakos C.

J Med Genet. 2012 Feb;49(2):75. doi: 10.1136/jmedgenet-2012-100736. No abstract available.

PMID:
22241854
39.

Fine points in mapping autoimmunity.

Polychronakos C.

Nat Genet. 2011 Nov 28;43(12):1173-4. doi: 10.1038/ng.1015.

PMID:
22120051
40.

Understanding type 1 diabetes through genetics: advances and prospects.

Polychronakos C, Li Q.

Nat Rev Genet. 2011 Oct 18;12(11):781-92. doi: 10.1038/nrg3069. Review.

PMID:
22005987
41.

A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci.

Bradfield JP, Qu HQ, Wang K, Zhang H, Sleiman PM, Kim CE, Mentch FD, Qiu H, Glessner JT, Thomas KA, Frackelton EC, Chiavacci RM, Imielinski M, Monos DS, Pandey R, Bakay M, Grant SF, Polychronakos C, Hakonarson H.

PLoS Genet. 2011 Sep;7(9):e1002293. doi: 10.1371/journal.pgen.1002293. Epub 2011 Sep 29.

42.

Exome diagnostics: already a reality?

Polychronakos C, Seng KC.

J Med Genet. 2011 Sep;48(9):579. doi: 10.1136/jmedgenet-2011-100385. No abstract available.

PMID:
21862672
43.

RFX6 is needed for the development and maintenance of the β-cell phenotype.

Taleb N, Polychronakos C.

Islets. 2011 Sep-Oct;3(5):291-3. Epub 2011 Sep 1.

PMID:
21750414
44.

Special issue on structural genomic alterations: ready for prime time.

Polychronakos C.

J Med Genet. 2011 May;48(5):289. doi: 10.1136/jmedgenet-2011-100098. No abstract available.

PMID:
21525062
45.

Differential expression pattern of ZAC in developing mouse and human pancreas.

Du X, Rousseau M, Ounissi-Benkalha H, Marchand L, Jetha A, Paraskevas S, Goodyer C, Polychronakos C.

J Mol Histol. 2011 Apr;42(2):129-36. doi: 10.1007/s10735-011-9315-9. Epub 2011 Feb 9.

PMID:
21305342
46.

Statistical significance in genetic association studies.

Qu HQ, Tien M, Polychronakos C.

Clin Invest Med. 2010 Oct 1;33(5):E266-70. No abstract available.

47.

Study of transcriptional effects in Cis at the IFIH1 locus.

Zouk H, Marchand L, Polychronakos C.

PLoS One. 2010 Jul 13;5(7):e11564. doi: 10.1371/journal.pone.0011564.

48.

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.

Hum Mutat. 2010 Aug;31(8):918-23. doi: 10.1002/humu.21293.

PMID:
20518025
49.

Zeroing in on the target.

Polychronakos C.

Pediatr Diabetes. 2010 Feb;11(1):2-3. doi: 10.1111/j.1399-5448.2010.00641.x. No abstract available.

PMID:
20415726
50.

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.

Hum Mol Genet. 2010 Jun 15;19(12):2534-8. doi: 10.1093/hmg/ddq133. Epub 2010 Apr 8.

PMID:
20378605

Supplemental Content

Loading ...
Support Center