Nadia Tubiana Rufi
- Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13J Magre
INSERM U 402, Faculte de Medecine Saint Antoine, Universite Pierre et Marie Curie, 27 rue Chaligny, 75012 Paris, France
Nat Genet 28:365-70. 2001..These findings are of general importance for understanding the molecular mechanisms underlying regulation of body fat distribution and insulin resistance...
- Prevalence of mutations in AGPAT2 among human lipodystrophiesJocelyne Magré
INSERM U 402, Saint Antoine Faculty of Medicine, University of Pierre and Marie Curie, 27 rue Chaligny, 75571 Paris Cedex, France
Diabetes 52:1573-8. 2003..Because we found mutations in 92 of the 94 BSCL patients studied, the seipin gene and AGPAT2 are the two major genes involved in the etiology of BSCL...
- Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophyJacques Beltrand
Universite Paris 7, INSERM U690, Paris, France
Pediatrics 120:e291-6. 2007..The objective of this study was to test safety and efficacy of recombinant-methionyl-human leptin replacement in children with Berardinelli-Seip syndrome before development of severe metabolic disease..