Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 13

1.

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.

2.

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.

3.

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.

4.

Microscopic and ultrastructural features in Wolcott-Rallison syndrome, a permanent neonatal diabetes mellitus: about two autopsy cases.

Collardeau-Frachon S, Vasiljevic A, Jouvet A, Bouvier R, Senée V, Nicolino M.

Pediatr Diabetes. 2015 Nov;16(7):510-20. doi: 10.1111/pedi.12201. Epub 2014 Aug 18.

PMID:
25131821
5.

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.

6.

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
7.

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
8.

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.

9.

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
10.

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
11.

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
12.

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.

13.

Abnormal FGFR 3 expression in cartilage of thanatophoric dysplasia fetuses.

Delezoide AL, Lasselin-Benoist C, Legeai-Mallet L, Brice P, Senée V, Yayon A, Munnich A, Vekemans M, Bonaventure J.

Hum Mol Genet. 1997 Oct;6(11):1899-906.

PMID:
9302269

Supplemental Content

Support Center