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216 results

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Page 1
Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group. Magré J, et al. Among authors: robert jj. Nat Genet. 2001 Aug;28(4):365-70. doi: 10.1038/ng585. Nat Genet. 2001. PMID: 11479539
Prevalence of mutations in AGPAT2 among human lipodystrophies.
Magré J, Delépine M, Van Maldergem L, Robert JJ, Maassen JA, Meier M, Panz VR, Kim CA, Tubiana-Rufi N, Czernichow P, Seemanova E, Buchanan CR, Lacombe D, Vigouroux C, Lascols O, Kahn CR, Capeau J, Lathrop M. Magré J, et al. Among authors: robert jj. Diabetes. 2003 Jun;52(6):1573-8. doi: 10.2337/diabetes.52.6.1573. Diabetes. 2003. PMID: 12765973
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: robert jj. 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
Major circadian variations of glucose homeostasis in a patient with Rabson-Mendenhall syndrome and primary insulin resistance due to a mutation (Cys284-->Tyr) in the insulin receptor alpha-subunit.
Desbois-Mouthon C, Magré J, Duprey J, Caron M, Blivet-Van Eggelpoel MJ, Daubas C, Gourmelen M, Chevallier B, Rizkalla S, Robert JJ, Capeau J. Desbois-Mouthon C, et al. Among authors: robert jj. Pediatr Res. 1997 Jul;42(1):72-7. doi: 10.1203/00006450-199707000-00012. Pediatr Res. 1997. PMID: 9212040
[Hypoglycemia in the diabetic patient. Recommendations of ALFEDIAM].
Grimaldi A, Slama G, Tubiana-Rufi N, Heurtier A, Selam JL, Scheen A, Sachon C, Vialettes B, Robert JJ, Perlemuter L. Grimaldi A, et al. Among authors: robert jj. Diabetes Metab. 1997 Feb;23(1):100-8. Diabetes Metab. 1997. PMID: 9102191 French. No abstract available.
Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin.
Beltrand J, Lahlou N, Le Charpentier T, Sebag G, Leka S, Polak M, Tubiana-Rufi N, Lacombe D, de Kerdanet M, Huet F, Robert JJ, Chevenne D, Gressens P, Lévy-Marchal C. Beltrand J, et al. Among authors: robert jj. Eur J Endocrinol. 2010 Jun;162(6):1083-91. doi: 10.1530/EJE-09-1027. Epub 2010 Mar 17. Eur J Endocrinol. 2010. PMID: 20236991 Clinical Trial.
216 results