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Neuropsychological dysfunction and developmental defects associated with genetic changes in infants with neonatal diabetes mellitus: a prospective cohort study [corrected].
Busiah K, Drunat S, Vaivre-Douret L, Bonnefond A, Simon A, Flechtner I, Gérard B, Pouvreau N, Elie C, Nimri R, De Vries L, Tubiana-Rufi N, Metz C, Bertrand AM, Nivot-Adamiak S, de Kerdanet M, Stuckens C, Jennane F, Souchon PF, Le Tallec C, Désirée C, Pereira S, Dechaume A, Robert JJ, Phillip M, Scharfmann R, Czernichow P, Froguel P, Vaxillaire M, Polak M, Cavé H; French NDM study group. Busiah K, et al. Among authors: simon a. Lancet Diabetes Endocrinol. 2013 Nov;1(3):199-207. doi: 10.1016/S2213-8587(13)70059-7. Epub 2013 Sep 6. Lancet Diabetes Endocrinol. 2013. PMID: 24622368
Neonatal hyperinsulinism: clinicopathologic correlation.
Delonlay P, Simon A, Galmiche-Rolland L, Giurgea I, Verkarre V, Aigrain Y, Santiago-Ribeiro MJ, Polak M, Robert JJ, Bellanne-Chantelot C, Brunelle F, Nihoul-Fekete C, Jaubert F. Delonlay P, et al. Among authors: simon a. Hum Pathol. 2007 Mar;38(3):387-99. doi: 10.1016/j.humpath.2006.12.007. Hum Pathol. 2007. PMID: 17303499 Review.
Insulin gene mutations resulting in early-onset diabetes: marked differences in clinical presentation, metabolic status, and pathogenic effect through endoplasmic reticulum retention.
Meur G, Simon A, Harun N, Virally M, Dechaume A, Bonnefond A, Fetita S, Tarasov AI, Guillausseau PJ, Boesgaard TW, Pedersen O, Hansen T, Polak M, Gautier JF, Froguel P, Rutter GA, Vaxillaire M. Meur G, et al. Among authors: simon a. Diabetes. 2010 Mar;59(3):653-61. doi: 10.2337/db09-1091. Epub 2009 Dec 10. Diabetes. 2010. PMID: 20007936 Free PMC article.
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: simon a. 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: simon a. 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.
Association of prenatal and postnatal exposure to lopinavir-ritonavir and adrenal dysfunction among uninfected infants of HIV-infected mothers.
Simon A, Warszawski J, Kariyawasam D, Le Chenadec J, Benhammou V, Czernichow P, Foissac F, Laborde K, Tréluyer JM, Firtion G, Layouni I, Munzer M, Bavoux F, Polak M, Blanche S; ANRS French Perinatal Cohort Study Group. Simon A, et al. JAMA. 2011 Jul 6;306(1):70-8. doi: 10.1001/jama.2011.915. JAMA. 2011. PMID: 21730243
Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.
Flechtner I, Lambot-Juhan K, Teissier R, Colmenares A, Baujat G, Beltrand J, Ajaltouni Z, Pauwels C, Pinto G, Samara-Boustani D, Simon A, Thalassinos C, Le Merrer M, Cormier-Daire V, Polak M. Flechtner I, et al. Among authors: simon a. Eur J Endocrinol. 2014 Apr 10;170(5):677-84. doi: 10.1530/EJE-13-0864. Print 2014 May. Eur J Endocrinol. 2014. PMID: 24536087
4,395 results