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Items: 1 to 50 of 130

1.

A systematic review of non-genetic predictors and genetic factors of glycated haemoglobin in type 1 diabetes one year after diagnosis.

Gloaguen E, Bendelac N, Nicolino M, Julier C, Mathieu F.

Diabetes Metab Res Rev. 2018 Nov;34(8):e3051. doi: 10.1002/dmrr.3051. Epub 2018 Sep 13.

PMID:
30063815
2.

Juvenile-Onset Diabetes and Congenital Cataract: "Double-Gene" Mutations Mimicking a Syndromic Diabetes Presentation.

Lenfant C, Baz P, Degavre A, Philippi A, Senée V, Vandiedonck C, Derbois C, Nicolino M, Zalloua P, Julier C.

Genes (Basel). 2017 Nov 7;8(11). pii: E309. doi: 10.3390/genes8110309.

3.

Molecular genetics of the transcription factor GLIS3 identifies its dual function in beta cells and neurons.

Calderari S, Ria M, Gérard C, Nogueira TC, Villate O, Collins SC, Neil H, Gervasi N, Hue C, Suarez-Zamorano N, Prado C, Cnop M, Bihoreau MT, Kaisaki PJ, Cazier JB, Julier C, Lathrop M, Werner M, Eizirik DL, Gauguier D.

Genomics. 2018 Mar;110(2):98-111. doi: 10.1016/j.ygeno.2017.09.001. Epub 2017 Sep 11.

PMID:
28911974
4.

dUTPase (DUT) Is Mutated in a Novel Monogenic Syndrome With Diabetes and Bone Marrow Failure.

Dos Santos RS, Daures M, Philippi A, Romero S, Marselli L, Marchetti P, Senée V, Bacq D, Besse C, Baz B, Marroquí L, Ivanoff S, Masliah-Planchon J, Nicolino M, Soulier J, Socié G, Eizirik DL, Gautier JF, Julier C.

Diabetes. 2017 Apr;66(4):1086-1096. doi: 10.2337/db16-0839. Epub 2017 Jan 10.

5.

A Missense Mutation in PPP1R15B Causes a Syndrome Including Diabetes, Short Stature, and Microcephaly.

Abdulkarim B, Nicolino M, Igoillo-Esteve M, Daures M, Romero S, Philippi A, Senée V, Lopes M, Cunha DA, Harding HP, Derbois C, Bendelac N, Hattersley AT, Eizirik DL, Ron D, Cnop M, Julier C.

Diabetes. 2015 Nov;64(11):3951-62. doi: 10.2337/db15-0477. Epub 2015 Jul 9.

6.

Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome.

Triantafyllou P, Vargiami E, Vagianou I, Badouraki M, Julier C, Zafeiriou DI.

J Pediatr Endocrinol Metab. 2014 Sep;27(9-10):967-70. doi: 10.1515/jpem-2013-0469.

PMID:
24859506
7.

tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.

Igoillo-Esteve M, Genin A, Lambert N, Désir J, Pirson I, Abdulkarim B, Simonis N, Drielsma A, Marselli L, Marchetti P, Vanderhaeghen P, Eizirik DL, Wuyts W, Julier C, Chakera AJ, Ellard S, Hattersley AT, Abramowicz M, Cnop M.

PLoS Genet. 2013 Oct;9(10):e1003888. doi: 10.1371/journal.pgen.1003888. Epub 2013 Oct 31.

8.

GLIS3, a susceptibility gene for type 1 and type 2 diabetes, modulates pancreatic beta cell apoptosis via regulation of a splice variant of the BH3-only protein Bim.

Nogueira TC, Paula FM, Villate O, Colli ML, Moura RF, Cunha DA, Marselli L, Marchetti P, Cnop M, Julier C, Eizirik DL.

PLoS Genet. 2013 May;9(5):e1003532. doi: 10.1371/journal.pgen.1003532. Epub 2013 May 30.

9.

A novel ALMS1 splice mutation in a non-obese juvenile-onset insulin-dependent syndromic diabetic patient.

Sanyoura M, Woudstra C, Halaby G, Baz P, Senée V, Guillausseau PJ, Zalloua P, Julier C.

Eur J Hum Genet. 2014 Jan;22(1):140-3. doi: 10.1038/ejhg.2013.87. Epub 2013 May 8.

10.

SLC29A3 mutation in a patient with syndromic diabetes with features of pigmented hypertrichotic dermatosis with insulin-dependent diabetes, H syndrome and Faisalabad histiocytosis.

de Jesus J, Imane Z, Senée V, Romero S, Guillausseau PJ, Balafrej A, Julier C.

Diabetes Metab. 2013 May;39(3):281-5. doi: 10.1016/j.diabet.2013.03.007. Epub 2013 Apr 23.

PMID:
23623699
11.

Evidence of gene-gene interaction and age-at-diagnosis effects in type 1 diabetes.

Howson JM, Cooper JD, Smyth DJ, Walker NM, Stevens H, She JX, Eisenbarth GS, Rewers M, Todd JA, Akolkar B, Concannon P, Erlich HA, Julier C, Morahan G, Nerup J, Nierras C, Pociot F, Rich SS; Type 1 Diabetes Genetics Consortium.

Diabetes. 2012 Nov;61(11):3012-7. doi: 10.2337/db11-1694. Epub 2012 Aug 13.

12.

Confirmation of novel type 1 diabetes risk loci in families.

Cooper JD, Howson JM, Smyth D, Walker NM, Stevens H, Yang JH, She JX, Eisenbarth GS, Rewers M, Todd JA, Akolkar B, Concannon P, Erlich HA, Julier C, Morahan G, Nerup J, Nierras C, Pociot F, Rich SS; Type 1 Diabetes Genetics Consortium.

Diabetologia. 2012 Apr;55(4):996-1000. doi: 10.1007/s00125-012-2450-3. Epub 2012 Jan 26.

13.

Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs.

Morahan G, Mehta M, James I, Chen WM, Akolkar B, Erlich HA, Hilner JE, Julier C, Nerup J, Nierras C, Pociot F, Todd JA, Rich SS; Type 1 Diabetes Genetics Consortium.

Diabetes. 2011 Mar;60(3):1030-40. doi: 10.2337/db10-1195. Epub 2011 Jan 24.

14.

Wolcott-Rallison syndrome.

Julier C, Nicolino M.

Orphanet J Rare Dis. 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. Review.

15.

Genetics of type 1 diabetes: what's next?

Pociot F, Akolkar B, Concannon P, Erlich HA, Julier C, Morahan G, Nierras CR, Todd JA, Rich SS, Nerup J.

Diabetes. 2010 Jul;59(7):1561-71. doi: 10.2337/db10-0076. Review. No abstract available.

16.

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

Ozbek MN, Senée V, Aydemir S, Kotan LD, Mungan NO, Yuksel B, Julier C, Topaloglu AK.

Pediatr Diabetes. 2010 Jun;11(4):279-85. doi: 10.1111/j.1399-5448.2009.00591.x. Epub 2010 Feb 25. Review.

PMID:
20202148
17.

A novel hypomorphic PDX1 mutation responsible for permanent neonatal diabetes with subclinical exocrine deficiency.

Nicolino M, Claiborn KC, Senée V, Boland A, Stoffers DA, Julier C.

Diabetes. 2010 Mar;59(3):733-40. doi: 10.2337/db09-1284. Epub 2009 Dec 15.

18.

The Type I Diabetes Genetics Consortium 'Rapid Response' family-based candidate gene study: strategy, genes selection, and main outcome.

Julier C, Akolkar B, Concannon P, Morahan G, Nierras C, Pugliese A; Type I Diabetes Genetics Consortium.

Genes Immun. 2009 Dec;10 Suppl 1:S121-7. doi: 10.1038/gene.2009.99.

19.

Evaluation of IL12B as a candidate type I diabetes susceptibility gene using data from the Type I Diabetes Genetics Consortium.

Morahan G, McKinnon E, Berry J, Browning B, Julier C, Pociot F, James I; Type I Diabetes Genetics Consortium.

Genes Immun. 2009 Dec;10 Suppl 1:S64-8. doi: 10.1038/gene.2009.94.

20.

Evidence for association of the TCF7 locus with type I diabetes.

Erlich HA, Valdes AM, Julier C, Mirel D, Noble JA; Type I Diabetes Genetics Consortium.

Genes Immun. 2009 Dec;10 Suppl 1:S54-9. doi: 10.1038/gene.2009.92.

21.

Association analysis of SNPs in the IL4R locus with type I diabetes.

Erlich HA, Lohman K, Mack SJ, Valdes AM, Julier C, Mirel D, Noble JA, Morahan GE, Rich SS; Type I Diabetes Genetics Consortium.

Genes Immun. 2009 Dec;10 Suppl 1:S33-41. doi: 10.1038/gene.2009.89.

22.

rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype.

Steck AK, Baschal EE, Jasinski JM, Boehm BO, Bottini N, Concannon P, Julier C, Morahan G, Noble JA, Polychronakos C, She JX, Eisenbarth GS; Type I Diabetes Genetics Consortium.

Genes Immun. 2009 Dec;10 Suppl 1:S21-6. doi: 10.1038/gene.2009.87.

23.

Current status and the future for the genetics of type I diabetes.

Rich SS, Akolkar B, Concannon P, Erlich H, Hilner JE, Julier C, Morahan G, Nerup J, Nierras C, Pociot F, Todd JA.

Genes Immun. 2009 Dec;10 Suppl 1:S128-31. doi: 10.1038/gene.2009.100.

24.

Overview of the Type I Diabetes Genetics Consortium.

Rich SS, Akolkar B, Concannon P, Erlich H, Hilner JE, Julier C, Morahan G, Nerup J, Nierras C, Pociot F, Todd JA.

Genes Immun. 2009 Dec;10 Suppl 1:S1-4. doi: 10.1038/gene.2009.84.

25.

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

Barrett JC, Clayton DG, Concannon P, Akolkar B, Cooper JD, Erlich HA, Julier C, Morahan G, Nerup J, Nierras C, Plagnol V, Pociot F, Schuilenburg H, Smyth DJ, Stevens H, Todd JA, Walker NM, Rich SS; Type 1 Diabetes Genetics Consortium.

Nat Genet. 2009 Jun;41(6):703-7. doi: 10.1038/ng.381. Epub 2009 May 10.

26.

Results of the MHC fine mapping workshop.

Rich SS, Akolkar B, Concannon P, Erlich H, Hilner J, Julier C, Morahan G, Nerup J, Nierras C, Pociot F, Todd JA.

Diabetes Obes Metab. 2009 Feb;11 Suppl 1:108-9. doi: 10.1111/j.1463-1326.2008.01011.x. No abstract available.

27.

Genome-wide scan for linkage to type 1 diabetes in 2,496 multiplex families from the Type 1 Diabetes Genetics Consortium.

Concannon P, Chen WM, Julier C, Morahan G, Akolkar B, Erlich HA, Hilner JE, Nerup J, Nierras C, Pociot F, Todd JA, Rich SS; Type 1 Diabetes Genetics Consortium.

Diabetes. 2009 Apr;58(4):1018-22. doi: 10.2337/db08-1551. Epub 2009 Jan 9.

28.

The large form of human 2',5'-Oligoadenylate Synthetase (OAS3) exerts antiviral effect against Chikungunya virus.

Bréhin AC, Casadémont I, Frenkiel MP, Julier C, Sakuntabhai A, Desprès P.

Virology. 2009 Feb 5;384(1):216-22. doi: 10.1016/j.virol.2008.10.021. Epub 2008 Dec 3.

29.

WFS1 mutations are frequent monogenic causes of juvenile-onset diabetes mellitus in Lebanon.

Zalloua PA, Azar ST, Delépine M, Makhoul NJ, Blanc H, Sanyoura M, Lavergne A, Stankov K, Lemainque A, Baz P, Julier C.

Hum Mol Genet. 2008 Dec 15;17(24):4012-21. doi: 10.1093/hmg/ddn304. Epub 2008 Sep 20.

PMID:
18806274
30.

A human type 1 diabetes susceptibility locus maps to chromosome 21q22.3.

Concannon P, Onengut-Gumuscu S, Todd JA, Smyth DJ, Pociot F, Bergholdt R, Akolkar B, Erlich HA, Hilner JE, Julier C, Morahan G, Nerup J, Nierras CR, Chen WM, Rich SS; Type 1 Diabetes Genetics Consortium.

Diabetes. 2008 Oct;57(10):2858-61. doi: 10.2337/db08-0753. Epub 2008 Jul 22.

31.

Genetic determination and linkage mapping of Plasmodium falciparum malaria related traits in Senegal.

Sakuntabhai A, Ndiaye R, Casadémont I, Peerapittayamongkol C, Rogier C, Tortevoye P, Tall A, Paul R, Turbpaiboon C, Phimpraphi W, Trape JF, Spiegel A, Heath S, Mercereau-Puijalon O, Dieye A, Julier C.

PLoS One. 2008 Apr 23;3(4):e2000. doi: 10.1371/journal.pone.0002000. Erratum in: PLoS ONE. 2008;3(4). doi: 10.1371/annotation/d0a416fa-b683-4721-88c1-3f6dc9a04d8d. Peerapittayamonkol, Chayanon [corrected to Peerapittayamongkol, Chayanon].

32.

FCRL3 -169CT functional polymorphism in type 1 diabetes and autoimmunity traits.

Duchatelet S, Caillat-Zucman S, Dubois-Laforgue D, Blanc H, Timsit J, Julier C.

Biomed Pharmacother. 2008 Mar;62(3):153-7. Epub 2007 Oct 8.

PMID:
17961971
33.

Severe FOXP3+ and naïve T lymphopenia in a non-IPEX form of autoimmune enteropathy combined with an immunodeficiency.

Zuber J, Viguier M, Lemaitre F, Senée V, Patey N, Elain G, Geissmann F, Fakhouri F, Ferradini L, Julier C, Bandeira A.

Gastroenterology. 2007 May;132(5):1694-704. Epub 2007 Feb 21.

PMID:
17484867
34.

PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits.

Chelala C, Duchatelet S, Joffret ML, Bergholdt R, Dubois-Laforgue D, Ghandil P, Pociot F, Caillat-Zucman S, Timsit J, Julier C.

Diabetes. 2007 Feb;56(2):522-6.

35.

The Type 1 Diabetes Genetics Consortium.

Rich SS, Concannon P, Erlich H, Julier C, Morahan G, Nerup J, Pociot F, Todd JA.

Ann N Y Acad Sci. 2006 Oct;1079:1-8. Review.

PMID:
17130525
36.

Microcephaly and simplified gyral pattern of the brain associated with early onset insulin-dependent diabetes mellitus.

de Wit MC, de Coo IF, Julier C, Delépine M, Lequin MH, van de Laar I, Sibbles BJ, Bruining GJ, Mancini GM.

Neurogenetics. 2006 Nov;7(4):259-63. Epub 2006 Sep 14.

PMID:
16972080
37.

Mutations in GLIS3 are responsible for a rare syndrome with neonatal diabetes mellitus and congenital hypothyroidism.

Senée V, Chelala C, Duchatelet S, Feng D, Blanc H, Cossec JC, Charon C, Nicolino M, Boileau P, Cavener DR, Bougnères P, Taha D, Julier C.

Nat Genet. 2006 Jun;38(6):682-7. Epub 2006 May 21.

PMID:
16715098
38.

[A variant in the CD209 (DC-SIGN) promoter is associated with severity of dengue disease].

Desprès P, Sakuntabhai A, Julier C.

Med Sci (Paris). 2005 Nov;21(11):905-6. French. No abstract available.

39.

Crohn's disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes.

Ghandil P, Chelala C, Dubois-Laforgue D, Senée V, Caillat-Zucman S, Kockum I, Luthman H, Nerup J, Pociot F, Timsit J, Julier C.

Mol Genet Metab. 2005 Nov;86(3):379-83. Epub 2005 Sep 28.

PMID:
16198136
40.

Type 1 diabetes: evidence for susceptibility loci from four genome-wide linkage scans in 1,435 multiplex families.

Concannon P, Erlich HA, Julier C, Morahan G, Nerup J, Pociot F, Todd JA, Rich SS; Type 1 Diabetes Genetics Consortium.

Diabetes. 2005 Oct;54(10):2995-3001.

41.

Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases?

Cadet E, Capron D, Gallet M, Omanga-Léké ML, Boutignon H, Julier C, Robson KJ, Rochette J.

J Med Genet. 2005 May;42(5):390-5.

42.

Genetic study of ICAM1 in clinical malaria in Senegal.

Ndiaye R, Sakuntabhai A, Casadémont I, Rogier C, Tall A, Trape JF, Spiegel A, Dieye A, Julier C.

Tissue Antigens. 2005 May;65(5):474-80.

PMID:
15853902
43.

A variant in the CD209 promoter is associated with severity of dengue disease.

Sakuntabhai A, Turbpaiboon C, Casadémont I, Chuansumrit A, Lowhnoo T, Kajaste-Rudnitski A, Kalayanarooj SM, Tangnararatchakit K, Tangthawornchaikul N, Vasanawathana S, Chaiyaratana W, Yenchitsomanus PT, Suriyaphol P, Avirutnan P, Chokephaibulkit K, Matsuda F, Yoksan S, Jacob Y, Lathrop GM, Malasit P, Desprès P, Julier C.

Nat Genet. 2005 May;37(5):507-13. Epub 2005 Apr 17.

PMID:
15838506
44.

Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes.

Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C.

Hum Mol Genet. 2005 Jan 1;14(1):1-5. Epub 2004 Nov 3.

PMID:
15525660
45.

Wolcott-Rallison Syndrome: clinical, genetic, and functional study of EIF2AK3 mutations and suggestion of genetic heterogeneity.

Senée V, Vattem KM, Delépine M, Rainbow LA, Haton C, Lecoq A, Shaw NJ, Robert JJ, Rooman R, Diatloff-Zito C, Michaud JL, Bin-Abbas B, Taha D, Zabel B, Franceschini P, Topaloglu AK, Lathrop GM, Barrett TG, Nicolino M, Wek RC, Julier C.

Diabetes. 2004 Jul;53(7):1876-83.

46.

Genetic and functional evaluation of an interleukin-12 polymorphism (IDDM18) in families with type 1 diabetes.

Bergholdt R, Ghandil P, Johannesen J, Kristiansen OP, Kockum I, Luthman H, Rønningen KS, Nerup J, Julier C, Pociot F.

J Med Genet. 2004 Apr;41(4):e39. No abstract available.

47.

Genotype at a promoter polymorphism of the interleukin-6 gene is associated with baseline levels of plasma C-reactive protein.

Vickers MA, Green FR, Terry C, Mayosi BM, Julier C, Lathrop M, Ratcliffe PJ, Watkins HC, Keavney B.

Cardiovasc Res. 2002 Mar;53(4):1029-34.

PMID:
11922913
48.

Lost in translation.

Julier C.

Nat Genet. 2001 Dec;29(4):358-9. No abstract available.

PMID:
11726916
49.

Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE).

McKenzie CA, Abecasis GR, Keavney B, Forrester T, Ratcliffe PJ, Julier C, Connell JM, Bennett F, McFarlane-Anderson N, Lathrop GM, Cardon LR.

Hum Mol Genet. 2001 May 1;10(10):1077-84.

PMID:
11331618
50.

[Genomics and type I diabetes].

Julier C.

Bull Acad Natl Med. 2000;184(7):1393-404; discussion 1404-7. Review. French.

PMID:
11261246

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