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742 related items for PubMed ID: 11479539

  • 1. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.
    Magré J, Delépine M, Khallouf E, Gedde-Dahl T, 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.
    Nat Genet; 2001 Aug; 28(4):365-70. PubMed ID: 11479539
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  • 2. Congenital generalized lipodystrophy: profile of the disease and gender differences in two siblings.
    Raygada M, Rennert O.
    Clin Genet; 2005 Jan; 67(1):98-101. PubMed ID: 15617555
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  • 8. Genetic basis of congenital generalized lipodystrophy.
    Agarwal AK, Barnes RI, Garg A.
    Int J Obes Relat Metab Disord; 2004 Feb; 28(2):336-9. PubMed ID: 14557833
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  • 10. Molecular analysis of Berardinelli-Seip congenital lipodystrophy in Oman: evidence for multiple loci.
    Heathcote K, Rajab A, Magré J, Syrris P, Besti M, Patton M, Délépine M, Lathrop M, Capeau J, Jeffery S.
    Diabetes; 2002 Apr; 51(4):1291-3. PubMed ID: 11916958
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  • 11. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34.
    Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, Kocak N, O'Rahilly S, Taylor SI, Patel SB, Bowcock AM.
    J Clin Endocrinol Metab; 1999 Sep; 84(9):3390-4. PubMed ID: 10487716
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  • 12. Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.
    Nishiyama A, Yagi M, Awano H, Okizuka Y, Maeda T, Yoshida S, Takeshima Y, Matsuo M.
    Pediatr Int; 2009 Dec; 51(6):775-9. PubMed ID: 19438831
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  • 17. Seipin ablation in mice results in severe generalized lipodystrophy.
    Cui X, Wang Y, Tang Y, Liu Y, Zhao L, Deng J, Xu G, Peng X, Ju S, Liu G, Yang H.
    Hum Mol Genet; 2011 Aug 01; 20(15):3022-30. PubMed ID: 21551454
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