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    Results: 1 to 20 of 257

    1.

    Heterozygous CAV1 frameshift mutations (MIM 601047) in patients with atypical partial lipodystrophy and hypertriglyceridemia.

    Cao H, Alston L, Ruschman J, Hegele RA.

    Lipids Health Dis. 2008 Jan 31;7:3.PMID: 18237401 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    2.

    Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation.

    Mory PB, Crispim F, Kasamatsu T, Gabbay MA, Dib SA, Moisés RS.

    Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1252-6.PMID: 19169477 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    3.

    A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy.

    Agarwal AK, Garg A.

    J Clin Endocrinol Metab. 2002 Jan;87(1):408-11.PMID: 11788685 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    4.

    Association of a homozygous nonsense caveolin-1 mutation with Berardinelli-Seip congenital lipodystrophy.

    Kim CA, Delépine M, Boutet E, El Mourabit H, Le Lay S, Meier M, Nemani M, Bridel E, Leite CC, Bertola DR, Semple RK, O'Rahilly S, Dugail I, Capeau J, Lathrop M, Magré J.

    J Clin Endocrinol Metab. 2008 Apr;93(4):1129-34. Epub 2008 Jan 22.PMID: 18211975 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    5.

    Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3).

    Francis GA, Li G, Casey R, Wang J, Cao H, Leff T, Hegele RA.

    BMC Med Genet. 2006 Jan 14;7:3.PMID: 16412238 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    6.

    A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2.

    Morel CF, Thomas MA, Cao H, O'Neil CH, Pickering JG, Foulkes WD, Hegele RA.

    J Clin Endocrinol Metab. 2006 Jul;91(7):2689-95. Epub 2006 Apr 24.PMID: 16636128 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    7.

    Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/C mutation.

    Jacob KN, Baptista F, dos Santos HG, Oshima J, Agarwal AK, Garg A.

    J Clin Endocrinol Metab. 2005 Dec;90(12):6699-706. Epub 2005 Sep 20.PMID: 16174718 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    8.

    A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.

    Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT.

    Clin Endocrinol (Oxf). 2008 Jul;69(1):61-8. Epub 2008 Jul 1.PMID: 18031308 [PubMed - indexed for MEDLINE]Related citations

    9.

    Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy.

    Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A.

    J Clin Endocrinol Metab. 2003 Jun;88(6):2821-4.PMID: 12788894 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    10.

    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.

    Nat Genet. 2001 Aug;28(4):365-70.PMID: 11479539 [PubMed - indexed for MEDLINE]Related citations

    11.

    Familial partial lipodystrophy phenotype resulting from a single-base mutation in deoxyribonucleic acid-binding domain of peroxisome proliferator-activated receptor-gamma.

    Monajemi H, Zhang L, Li G, Jeninga EH, Cao H, Maas M, Brouwer CB, Kalkhoven E, Stroes E, Hegele RA, Leff T.

    J Clin Endocrinol Metab. 2007 May;92(5):1606-12. Epub 2007 Feb 13.PMID: 17299075 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    12.

    Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.

    Simha V, Agarwal AK, Aronin PA, Iannaccone ST, Garg A.

    Am J Med Genet A. 2008 Sep 15;146A(18):2318-26.PMID: 18698612 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    13.

    Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene.

    Schmidt HH, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge UJ, Pröpsting M, Büttner C, Manns MP, Lochs H, Brabant G.

    J Clin Endocrinol Metab. 2001 May;86(5):2289-95.PMID: 11344241 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    14.

    Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype.

    Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G.

    J Clin Endocrinol Metab. 2007 Nov;92(11):4467-71. Epub 2007 Sep 11.PMID: 17848409 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    15.

    Quantitative and qualitative differences in subcutaneous adipose tissue stores across lipodystrophy types shown by magnetic resonance imaging.

    Al-Attar SA, Pollex RL, Robinson JF, Miskie BA, Walcarius R, Little CH, Rutt BK, Hegele RA.

    BMC Med Imaging. 2007 Mar 12;7:3.PMID: 17352814 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    16.

    PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.

    Hegele RA, Cao H, Frankowski C, Mathews ST, Leff T.

    Diabetes. 2002 Dec;51(12):3586-90.PMID: 12453919 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

    17.

    Clinical characteristics and efficacy of pioglitazone in a Japanese diabetic patient with an unusual type of familial partial lipodystrophy.

    Iwanishi M, Ebihara K, Kusakabe T, Chen W, Ito J, Masuzaki H, Hosoda K, Nakao K.

    Metabolism. 2009 Dec;58(12):1681-7. Epub 2009 Sep 29.PMID: 19793595 [PubMed - indexed for MEDLINE]Related citations

    18.

    Leptin therapy for partial lipodystrophy linked to a PPAR-gamma mutation.

    Guettier JM, Park JY, Cochran EK, Poitou C, Basdevant A, Meier M, Clément K, Magré J, Gorden P.

    Clin Endocrinol (Oxf). 2008 Apr;68(4):547-54. Epub 2007 Dec 10.PMID: 18076675 [PubMed - indexed for MEDLINE]Free PMC ArticleFree textRelated citations

    19.

    Lipodystrophies.

    Garg A.

    Am J Med. 2000 Feb;108(2):143-52. Review.PMID: 11126308 [PubMed - indexed for MEDLINE]Related citations

    20.

    Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family.

    Drac H, Madej-Pilarczyk A, Gospodarczyk-Szot K, Gaweł M, Kwieciński H, Hausmanowa-Petrusewicz I.

    Neurol Neurochir Pol. 2010 May-Jun;44(3):291-6.PMID: 20625965 [PubMed - indexed for MEDLINE]Free ArticleRelated citations

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