Nadia Tubiana Rufi

Summary

Country: France

Publications

  1. ncbi request reprint Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
    J 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
  2. ncbi request reprint Prevalence of mutations in AGPAT2 among human lipodystrophies
    Jocelyne 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
  3. ncbi request reprint Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy
    Jacques Beltrand
    Universite Paris 7, INSERM U690, Paris, France
    Pediatrics 120:e291-6. 2007

Collaborators

  • C Vigouroux
  • Didier Lacombe
  • J Capeau
  • J A Maassen
  • S O'Rahilly
  • Jacques Beltrand
  • Jocelyne Magré
  • J Magre
  • Jean Jacques Robert
  • Chong Ae Kim
  • Muriel Meier
  • Lionel Van Maldergem
  • Marc Delepine
  • Olivier Lascols
  • Vanessa R Panz
  • C Ronald Kahn
  • Paul Czernichow
  • Eva Seemanova
  • Nadia Tubiana-Rufi
  • Charles R Buchanan
  • Mark Lathrop
  • H Loret
  • G Loyson
  • M Delepine
  • M De Kerdanet
  • A Nivelon-Chevalier
  • A Bachy
  • L Van Maldergem
  • F H D'Abronzo
  • J Weissenbach
  • F Bonnicci
  • B I Joffe
  • C Bourut
  • J L Medina
  • A Megarbane
  • F J Raal
  • C R Kahn
  • M Lathrop
  • N Baudic
  • T Gedde-Dahl
  • P Tric
  • J J Robert
  • V R Panz
  • N Tubiana-Rufi
  • F Huet
  • J Navarro
  • R Assan
  • P Czernichow
  • O Trygstad
  • E Seemanova
  • S Savasta
  • E Khallouf
  • E Sobel
  • M Meier
  • F Matsuda
  • T Stephenson
  • P Labrune
  • F Grigorescu
  • J Papp
  • A Verloes
  • P Freitas
  • P Bogalho
  • M Lanza
  • M Polak

Detail Information

Publications3

  1. ncbi request reprint Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13
    J 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...
  2. ncbi request reprint Prevalence of mutations in AGPAT2 among human lipodystrophies
    Jocelyne 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...
  3. ncbi request reprint Metabolic correction induced by leptin replacement treatment in young children with Berardinelli-Seip congenital lipoatrophy
    Jacques 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..