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Mutations in BOREALIN cause thyroid dysgenesis.
Carré A, Stoupa A, Kariyawasam D, Gueriouz M, Ramond C, Monus T, Léger J, Gaujoux S, Sebag F, Glaser N, Zenaty D, Nitschke P, Bole-Feysot C, Hubert L, Lyonnet S, Scharfmann R, Munnich A, Besmond C, Taylor W, Polak M. Carré A, et al. Among authors: scharfmann r. Hum Mol Genet. 2017 Feb 1;26(3):599-610. doi: 10.1093/hmg/ddw419. Hum Mol Genet. 2017. PMID: 28025328 Free PMC article.
Early pattern of differentiation in the human pancreas.
Polak M, Bouchareb-Banaei L, Scharfmann R, Czernichow P. Polak M, et al. Among authors: scharfmann r. Diabetes. 2000 Feb;49(2):225-32. doi: 10.2337/diabetes.49.2.225. Diabetes. 2000. PMID: 10868939
Heterozygous missense mutations in the insulin gene are linked to permanent diabetes appearing in the neonatal period or in early infancy: a report from the French ND (Neonatal Diabetes) Study Group.
Polak M, Dechaume A, Cavé H, Nimri R, Crosnier H, Sulmont V, de Kerdanet M, Scharfmann R, Lebenthal Y, Froguel P, Vaxillaire M; French ND (Neonatal Diabetes) Study Group. Polak M, et al. Among authors: scharfmann r. Diabetes. 2008 Apr;57(4):1115-9. doi: 10.2337/db07-1358. Epub 2008 Jan 2. Diabetes. 2008. PMID: 18171712
Neonatal hyperglycaemia and abnormal development of the pancreas.
Flechtner I, Vaxillaire M, Cavé H, Scharfmann R, Froguel P, Polak M. Flechtner I, et al. Among authors: scharfmann r. Best Pract Res Clin Endocrinol Metab. 2008 Feb;22(1):17-40. doi: 10.1016/j.beem.2007.08.003. Best Pract Res Clin Endocrinol Metab. 2008. PMID: 18279778 Review.
Transcribing neonatal diabetes mellitus.
Scharfmann R, Polak M. Scharfmann R, et al. N Engl J Med. 2010 Apr 22;362(16):1538-9. doi: 10.1056/NEJMcibr1001845. N Engl J Med. 2010. PMID: 20410520 No abstract available.
Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome.
Bonnefond A, Durand E, Sand O, De Graeve F, Gallina S, Busiah K, Lobbens S, Simon A, Bellanné-Chantelot C, Létourneau L, Scharfmann R, Delplanque J, Sladek R, Polak M, Vaxillaire M, Froguel P. Bonnefond A, et al. Among authors: scharfmann r. PLoS One. 2010 Oct 26;5(10):e13630. doi: 10.1371/journal.pone.0013630. PLoS One. 2010. PMID: 21049026 Free PMC article.
Disruption of a novel Kruppel-like transcription factor p300-regulated pathway for insulin biosynthesis revealed by studies of the c.-331 INS mutation found in neonatal diabetes mellitus.
Bonnefond A, Lomberk G, Buttar N, Busiah K, Vaillant E, Lobbens S, Yengo L, Dechaume A, Mignot B, Simon A, Scharfmann R, Neve B, Tanyolaç S, Hodoglugil U, Pattou F, Cavé H, Iovanna J, Stein R, Polak M, Vaxillaire M, Froguel P, Urrutia R. Bonnefond A, et al. Among authors: scharfmann r. J Biol Chem. 2011 Aug 12;286(32):28414-24. doi: 10.1074/jbc.M110.215822. Epub 2011 May 18. J Biol Chem. 2011. PMID: 21592955 Free PMC article.
195 results