Julier C - Search Results

1

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. Senée V, et al. Among authors: julier c. Nat Genet. 2006 Jun;38(6):682-7. doi: 10.1038/ng1802. Epub 2006 May 21. Nat Genet. 2006. PMID: 16715098

2

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. Senée V, et al. Among authors: julier c. Diabetes. 2004 Jul;53(7):1876-83. doi: 10.2337/diabetes.53.7.1876. Diabetes. 2004. PMID: 15220213

3

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. Ghandil P, et al. Among authors: julier c. Mol Genet Metab. 2005 Nov;86(3):379-83. doi: 10.1016/j.ymgme.2005.07.029. Epub 2005 Sep 28. Mol Genet Metab. 2005. PMID: 16198136

4

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. Duchatelet S, et al. Among authors: julier c. Biomed Pharmacother. 2008 Mar;62(3):153-7. doi: 10.1016/j.biopha.2007.09.003. Epub 2007 Oct 8. Biomed Pharmacother. 2008. PMID: 17961971

5

Wolcott-Rallison syndrome.

Julier C, Nicolino M. Julier C, et al. Orphanet J Rare Dis. 2010 Nov 4;5:29. doi: 10.1186/1750-1172-5-29. Orphanet J Rare Dis. 2010. PMID: 21050479 Free PMC article. Review.

6

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome.

Delépine M, Nicolino M, Barrett T, Golamaully M, Lathrop GM, Julier C. Delépine M, et al. Among authors: julier c. Nat Genet. 2000 Aug;25(4):406-9. doi: 10.1038/78085. Nat Genet. 2000. PMID: 10932183

7

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. Nicolino M, et al. Among authors: julier c. Diabetes. 2010 Mar;59(3):733-40. doi: 10.2337/db09-1284. Epub 2009 Dec 15. Diabetes. 2010. PMID: 20009086 Free PMC article.

8

Mutations and variants of ONECUT1 in diabetes.

Philippi A, Heller S, Costa IG, Senée V, Breunig M, Li Z, Kwon G, Russell R, Illing A, Lin Q, Hohwieler M, Degavre A, Zalloua P, Liebau S, Schuster M, Krumm J, Zhang X, Geusz R, Benthuysen JR, Wang A, Chiou J, Gaulton K, Neubauer H, Simon E, Klein T, Wagner M, Nair G, Besse C, Dandine-Roulland C, Olaso R, Deleuze JF, Kuster B, Hebrok M, Seufferlein T, Sander M, Boehm BO, Oswald F, Nicolino M, Julier C, Kleger A. Philippi A, et al. Among authors: julier c. Nat Med. 2021 Nov;27(11):1928-1940. doi: 10.1038/s41591-021-01502-7. Epub 2021 Oct 18. Nat Med. 2021. PMID: 34663987 Free PMC article.

9

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

Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C. Duchatelet S, et al. Among authors: julier c. Hum Mol Genet. 2005 Jan 1;14(1):1-5. doi: 10.1093/hmg/ddi001. Epub 2004 Nov 3. Hum Mol Genet. 2005. PMID: 15525660

10

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. Chelala C, et al. Among authors: julier c. Diabetes. 2007 Feb;56(2):522-6. doi: 10.2337/db06-0942. Diabetes. 2007. PMID: 17259401

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