Saint-Martin C - Search Results

1

The Common HNF1A Variant I27L Is a Modifier of Age at Diabetes Diagnosis in Individuals With HNF1A-MODY.

Locke JM, Saint-Martin C, Laver TW, Patel KA, Wood AR, Sharp SA, Ellard S, Bellanné-Chantelot C, Hattersley AT, Harries LW, Weedon MN. Locke JM, et al. Diabetes. 2018 Sep;67(9):1903-1907. doi: 10.2337/db18-0133. Epub 2018 Jun 12. Diabetes. 2018. PMID: 29895593 Free PMC article.

2

Analysis of the ten-eleven translocation 2 (TET2) gene in familial myeloproliferative neoplasms.

Saint-Martin C, Leroy G, Delhommeau F, Panelatti G, Dupont S, James C, Plo I, Bordessoule D, Chomienne C, Delannoy A, Devidas A, Gardembas-Pain M, Isnard F, Plumelle Y, Bernard O, Vainchenker W, Najman A, Bellanné-Chantelot C; French Group of Familial Myeloproliferative Disorders. Saint-Martin C, et al. Blood. 2009 Aug 20;114(8):1628-32. doi: 10.1182/blood-2009-01-197525. Epub 2009 Jun 29. Blood. 2009. PMID: 19564637 Free article.

3

Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanné-Chantelot C, Ellard S, Gloyn AL. Osbak KK, et al. Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. Hum Mutat. 2009. PMID: 19790256 Review.

4

Familial young-onset forms of diabetes related to HNF4A and rare HNF1A molecular aetiologies.

Carette C, Dubois-Laforgue D, Saint-Martin C, Clauin S, Beaufils S, Larger E, Sola A, Mosnier-Pudar H, Timsit J, Bellanné-Chantelot C. Carette C, et al. Diabet Med. 2010 Dec;27(12):1454-8. doi: 10.1111/j.1464-5491.2010.03115.x. Diabet Med. 2010. PMID: 21105491

5

KATP channel mutations in congenital hyperinsulinism.

Saint-Martin C, Arnoux JB, de Lonlay P, Bellanné-Chantelot C. Saint-Martin C, et al. Semin Pediatr Surg. 2011 Feb;20(1):18-22. doi: 10.1053/j.sempedsurg.2010.10.012. Semin Pediatr Surg. 2011. PMID: 21185999 Review.

6

Clinical characteristics and diagnostic criteria of maturity-onset diabetes of the young (MODY) due to molecular anomalies of the HNF1A gene.

Bellanné-Chantelot C, Lévy DJ, Carette C, Saint-Martin C, Riveline JP, Larger E, Valéro R, Gautier JF, Reznik Y, Sola A, Hartemann A, Laboureau-Soares S, Laloi-Michelin M, Lecomte P, Chaillous L, Dubois-Laforgue D, Timsit J; French Monogenic Diabetes Study Group. Bellanné-Chantelot C, et al. J Clin Endocrinol Metab. 2011 Aug;96(8):E1346-51. doi: 10.1210/jc.2011-0268. Epub 2011 Jun 15. J Clin Endocrinol Metab. 2011. PMID: 21677039 Free article.

7

Long term follow up of 93 families with myeloproliferative neoplasms: life expectancy and implications of JAK2V617F in the occurrence of complications.

Malak S, Labopin M, Saint-Martin C, Bellanne-Chantelot C, Najman A; French Group of Familial Myeloproliferative Disorders. Malak S, et al. Blood Cells Mol Dis. 2012 Oct 15-Dec 15;49(3-4):170-6. doi: 10.1016/j.bcmd.2012.06.004. Epub 2012 Jul 19. Blood Cells Mol Dis. 2012. PMID: 22818858

8

Incretin effect of glucagon-like peptide 1 receptor agonist is preserved in presence of ABCC8/SUR1 mutation in β-cell.

Bourron O, Chebbi F, Halbron M, Saint-Martin C, Bellanné-Chantelot C, Abed A, Charbit B, Magnan C, Lacorte JM, Hartemann A. Bourron O, et al. Diabetes Care. 2012 Nov;35(11):e76. doi: 10.2337/dc12-0535. Diabetes Care. 2012. PMID: 23093687 Free PMC article. Clinical Trial. No abstract available.

9

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.

Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S. Colclough K, et al. Hum Mutat. 2013 May;34(5):669-85. doi: 10.1002/humu.22279. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23348805

10

Clinical utility gene card for: Maturity-onset diabetes of the young.

Colclough K, Saint-Martin C, Timsit J, Ellard S, Bellanné-Chantelot C. Colclough K, et al. Eur J Hum Genet. 2014 Sep;22(9). doi: 10.1038/ejhg.2014.14. Epub 2014 Feb 12. Eur J Hum Genet. 2014. PMID: 24518839 Free PMC article. No abstract available.

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