Saint-Martin C - Search Results

1

Update of variants identified in the pancreatic β-cell K_ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.

De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.

2

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.

3

ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism.

Bellanné-Chantelot C, Saint-Martin C, Ribeiro MJ, Vaury C, Verkarre V, Arnoux JB, Valayannopoulos V, Gobrecht S, Sempoux C, Rahier J, Fournet JC, Jaubert F, Aigrain Y, Nihoul-Fékété C, de Lonlay P. Bellanné-Chantelot C, et al. J Med Genet. 2010 Nov;47(11):752-9. doi: 10.1136/jmg.2009.075416. Epub 2010 Aug 3. J Med Genet. 2010. PMID: 20685672

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

Congenital hyperinsulinism: current trends in diagnosis and therapy.

Arnoux JB, Verkarre V, Saint-Martin C, Montravers F, Brassier A, Valayannopoulos V, Brunelle F, Fournet JC, Robert JJ, Aigrain Y, Bellanné-Chantelot C, de Lonlay P. Arnoux JB, et al. Orphanet J Rare Dis. 2011 Oct 3;6:63. doi: 10.1186/1750-1172-6-63. Orphanet J Rare Dis. 2011. PMID: 21967988 Free PMC article. Review.

7

Successful treatment of congenital hyperinsulinism with long-acting release octreotide.

Le Quan Sang KH, Arnoux JB, Mamoune A, Saint-Martin C, Bellanné-Chantelot C, Valayannopoulos V, Brassier A, Kayirangwa H, Barbier V, Broissand C, Fabreguettes JR, Charron B, Thalabard JC, de Lonlay P. Le Quan Sang KH, et al. Eur J Endocrinol. 2012 Feb;166(2):333-9. doi: 10.1530/EJE-11-0874. Epub 2011 Nov 2. Eur J Endocrinol. 2012. PMID: 22048969 Clinical Trial.

8

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

9

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.

10

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

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