Prof Jean Claude Carel, MD, PhD / Dr Elise Bismuth, MD

Pediatric Endocrinology and Diabetology
Robert Debré Teaching Hospital
48, boulevard Serurier, Paris
Phone: +33140035303
Fax: +33140032429


Members of the group

Dr Caroline Storey (Full time practitioner)


Equipment and facilities

Clinical Unit
Investigation clinical center


Topics of interest

- Epidemiolody
- Genotype-phenotype relationships
- Therapeutics
- Clinical Giudelines


Publications
  • Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases. Vatier C, Vantyghem MC, Storey C, Jéru I, Christin-Maitre S, Fève B, Lascols O, Beltrand J, Carel JC, Vigouroux C, Bismuth E. Curr Med Res Opin. 2019 Mar;35(3):543-552. doi: 10.1080/03007995.2018.1533459. Epub 2018 Nov 9. PMID: 30296183 
  • Diagnostic Challenge in PLIN1-Associated Familial Partial Lipodystrophy. Jéru I, Vantyghem MC, Bismuth E, Cervera P, Barraud S; PLIN1-Study Group, Auclair M, Vatier C, Lascols O, Savage DB, Vigouroux C. J Clin Endocrinol Metab. 2019 Dec 1;104(12):6025-6032. doi: 10.1210/jc.2019-00849 
  • Hypomorphism in human NSMCE2 linked to primordial dwarfism and insulin resistance. Payne F, Colnaghi R, Rocha N, Seth A, Harris J, Carpenter G, Bottomley WE, Wheeler E, Wong S, Saudek V, Savage D, O'Rahilly S, Carel JC, Barroso I, O'Driscoll M, Semple R. J Clin Invest. 2014 Sep;124(9):4028-38. doi: 10.1172/JCI73264. Epub 2014 Aug 8. 
  • Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy. Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E,
    Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S. J Med Genet. 2002 Oct;39(10):722-33. doi: 10.1136/jmg.39.10.722. 
  • 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. Diabetes. 2003 Jun;52(6):1573-8. doi: 10.2337/diabetes.52.6.1573. 
  • 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. Eur J Endocrinol. 2010 Jun;162(6):1083-91. doi: 10.1530/EJE-09-1027. Epub 2010 Mar 17.