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1981 2
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1997 5
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1999 1
2000 5
2001 4
2002 3
2003 1
2004 3
2005 6
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193 results

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Page 1
Update of variants identified in the pancreatic β-cell KATP 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. Among authors: saint martin c. 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.
Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.
Tobias DK, Merino J, Ahmad A, Aiken C, Benham JL, Bodhini D, Clark AL, Colclough K, Corcoy R, Cromer SJ, Duan D, Felton JL, Francis EC, Gillard P, Gingras V, Gaillard R, Haider E, Hughes A, Ikle JM, Jacobsen LM, Kahkoska AR, Kettunen JLT, Kreienkamp RJ, Lim LL, Männistö JME, Massey R, Mclennan NM, Miller RG, Morieri ML, Most J, Naylor RN, Ozkan B, Patel KA, Pilla SJ, Prystupa K, Raghavan S, Rooney MR, Schön M, Semnani-Azad Z, Sevilla-Gonzalez M, Svalastoga P, Takele WW, Tam CH, Thuesen ACB, Tosur M, Wallace AS, Wang CC, Wong JJ, Yamamoto JM, Young K, Amouyal C, Andersen MK, Bonham MP, Chen M, Cheng F, Chikowore T, Chivers SC, Clemmensen C, Dabelea D, Dawed AY, Deutsch AJ, Dickens LT, DiMeglio LA, Dudenhöffer-Pfeifer M, Evans-Molina C, Fernández-Balsells MM, Fitipaldi H, Fitzpatrick SL, Gitelman SE, Goodarzi MO, Grieger JA, Guasch-Ferré M, Habibi N, Hansen T, Huang C, Harris-Kawano A, Ismail HM, Hoag B, Johnson RK, Jones AG, Koivula RW, Leong A, Leung GKW, Libman IM, Liu K, Long SA, Lowe WL Jr, Morton RW, Motala AA, Onengut-Gumuscu S, Pankow JS, Pathirana M, Pazmino S, Perez D, Petrie JR, Powe CE, Quinteros A, Jain R, Ray D, Ried-Larsen M, Saeed Z, Santhakumar V, Kanbour S, Sarkar … See abstract for full author list ➔ Tobias DK, et al. Among authors: saint martin c. Nat Med. 2023 Oct;29(10):2438-2457. doi: 10.1038/s41591-023-02502-5. Epub 2023 Oct 5. Nat Med. 2023. PMID: 37794253 Free PMC article. Review.
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients.
Depienne C, Trouillard O, Saint-Martin C, Gourfinkel-An I, Bouteiller D, Carpentier W, Keren B, Abert B, Gautier A, Baulac S, Arzimanoglou A, Cazeneuve C, Nabbout R, LeGuern E. Depienne C, et al. Among authors: saint martin c. J Med Genet. 2009 Mar;46(3):183-91. doi: 10.1136/jmg.2008.062323. Epub 2008 Oct 17. J Med Genet. 2009. PMID: 18930999
Feasibility and Safety of Sildenafil to Repair Brain Injury Secondary to Birth Asphyxia (SANE-01): A Randomized, Double-blind, Placebo-controlled Phase Ib Clinical Trial.
Wintermark P, Lapointe A, Steinhorn R, Rampakakis E, Burhenne J, Meid AD, Bajraktari-Sylejmani G, Khairy M, Altit G, Adamo MT, Poccia A, Gilbert G, Saint-Martin C, Toffoli D, Vachon J, Hailu E, Colin P, Haefeli WE. Wintermark P, et al. Among authors: saint martin c. J Pediatr. 2024 Mar;266:113879. doi: 10.1016/j.jpeds.2023.113879. Epub 2023 Dec 22. J Pediatr. 2024. PMID: 38142044 Free article. Clinical Trial.
The use of precision diagnostics for monogenic diabetes: a systematic review and expert opinion.
Murphy R, Colclough K, Pollin TI, Ikle JM, Svalastoga P, Maloney KA, Saint-Martin C, Molnes J; ADA/EASD PMDI; Misra S, Aukrust I, de Franco E, Flanagan SE, Njølstad PR, Billings LK, Owen KR, Gloyn AL. Murphy R, et al. Among authors: saint martin c. Commun Med (Lond). 2023 Oct 5;3(1):136. doi: 10.1038/s43856-023-00369-8. Commun Med (Lond). 2023. PMID: 37794142 Free PMC article.
The spectrum of indomethacin-responsive headaches in children and adolescents.
Myers KA, Barmherzig R, Raj NR, Berrahmoune S, Ingelmo P, Saint-Martin C, Khan AQ, Kouri M, Morris C, Hershey AD, Kacperski J, Kabbouche MA, Mohamed N, Rao RR, Lagman-Bartolome AM, Gelfand AA, Szperka CL, Orr SL. Myers KA, et al. Among authors: saint martin c. Cephalalgia. 2022 Jul;42(8):793-797. doi: 10.1177/03331024221076483. Epub 2022 Mar 18. Cephalalgia. 2022. PMID: 35302385 Free PMC article. Review.
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.
Molecular mechanism of HNF-1A-mediated HNF4A gene regulation and promoter-driven HNF4A-MODY diabetes.
Kind L, Molnes J, Tjora E, Raasakka A, Myllykoski M, Colclough K, Saint-Martin C, Adelfalk C, Dusatkova P, Pruhova S, Valtonen-André C, Bellanné-Chantelot C, Arnesen T, Kursula P, Njølstad PR. Kind L, et al. Among authors: saint martin c. JCI Insight. 2024 Jun 10;9(11):e175278. doi: 10.1172/jci.insight.175278. JCI Insight. 2024. PMID: 38855865 Free PMC article.
193 results