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    Results: 1 to 20 of 269

    1.

    Type A insulin resistance syndrome revealing a novel lamin A mutation.

    Young J, Morbois-Trabut L, Couzinet B, Lascols O, Dion E, Béréziat V, Fève B, Richard I, Capeau J, Chanson P, Vigouroux C.

    Diabetes. 2005 Jun;54(6):1873-8.PMID: 15919811 [PubMed - indexed for MEDLINE]Related articlesFree article

    2.

    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 articles

    3.

    New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome.

    Decaudain A, Vantyghem MC, Guerci B, Hécart AC, Auclair M, Reznik Y, Narbonne H, Ducluzeau PH, Donadille B, Lebbé C, Béréziat V, Capeau J, Lascols O, Vigouroux C.

    J Clin Endocrinol Metab. 2007 Dec;92(12):4835-44. Epub 2007 Aug 21.PMID: 17711925 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    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]Related articlesFree article

    5.

    Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism.

    Keller J, Subramanyam L, Simha V, Gustofson R, Minjarez D, Garg A.

    Obstet Gynecol. 2009 Aug;114(2 Pt 2):427-31.PMID: 19622949 [PubMed - indexed for MEDLINE]Related articles

    6.

    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]Related articlesFree article

    7.

    A-type lamin-linked lipodystrophies.

    Vigouroux C, Capeau J.

    Novartis Found Symp. 2005;264:166-77; discussion 177-82, 227-30. Review.PMID: 15773753 [PubMed - indexed for MEDLINE]Related articles

    8.

    Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism.

    Vantyghem MC, Faivre-Defrance F, Marcelli-Tourvieille S, Fermon C, Evrard A, Bourdelle-Hego MF, Vigouroux C, Defebvre L, Delemer B, Wemeau JL.

    Clin Endocrinol (Oxf). 2007 Aug;67(2):247-9. Epub 2007 May 24.PMID: 17524034 [PubMed - indexed for MEDLINE]Related articles

    9.

    Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities.

    Vantyghem MC, Pigny P, Maurage CA, Rouaix-Emery N, Stojkovic T, Cuisset JM, Millaire A, Lascols O, Vermersch P, Wemeau JL, Capeau J, Vigouroux C.

    J Clin Endocrinol Metab. 2004 Nov;89(11):5337-46.PMID: 15531479 [PubMed - indexed for MEDLINE]Related articlesFree article

    10.

    Clinical course of genetic diseases of the insulin receptor (type A and Rabson-Mendenhall syndromes): a 30-year prospective.

    Musso C, Cochran E, Moran SA, Skarulis MC, Oral EA, Taylor S, Gorden P.

    Medicine (Baltimore). 2004 Jul;83(4):209-22. Review.PMID: 15232309 [PubMed - indexed for MEDLINE]Related articles

    11.

    The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.

    Muschke P, Kölsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P.

    Am J Med Genet A. 2007 Dec 1;143A(23):2810-4.PMID: 18041775 [PubMed - indexed for MEDLINE]Related articles

    12.

    A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy.

    Caux F, Dubosclard E, Lascols O, Buendia B, Chazouillères O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S.

    J Clin Endocrinol Metab. 2003 Mar;88(3):1006-13.PMID: 12629077 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Fertility and obstetrical complications in women with LMNA-related familial partial lipodystrophy.

    Vantyghem MC, Vincent-Desplanques D, Defrance-Faivre F, Capeau J, Fermon C, Valat AS, Lascols O, Hecart AC, Pigny P, Delemer B, Vigouroux C, Wemeau JL.

    J Clin Endocrinol Metab. 2008 Jun;93(6):2223-9. Epub 2008 Mar 25.PMID: 18364375 [PubMed - indexed for MEDLINE]Related articlesFree article

    14.

    Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance.

    Moller DE, Cohen O, Yamaguchi Y, Assiz R, Grigorescu F, Eberle A, Morrow LA, Moses AC, Flier JS.

    Diabetes. 1994 Feb;43(2):247-55.PMID: 8288049 [PubMed - indexed for MEDLINE]Related articles

    15.

    [Major insulin resistance syndromes: clinical and physiopathological aspects]

    Vigouroux C, Magré J, Desbois-Mouthon C, Lascols O, Cherqui G, Caron M, Capeau J.

    J Soc Biol. 2001;195(3):249-57. Review. French. PMID: 11833462 [PubMed - indexed for MEDLINE]Related articles

    16.

    Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy.

    Vigouroux C, Magré J, Vantyghem MC, Bourut C, Lascols O, Shackleton S, Lloyd DJ, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath RC, Capeau J.

    Diabetes. 2000 Nov;49(11):1958-62.PMID: 11078466 [PubMed - indexed for MEDLINE]Related articlesFree article

    17.

    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]Related articlesFree article

    18.

    Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin.

    Gambineri A, Semple RK, Forlani G, Genghini S, Grassi I, Hyden CS, Pagotto U, O'Rahilly S, Pasquali R.

    Eur J Endocrinol. 2008 Sep;159(3):347-53.PMID: 18728124 [PubMed - indexed for MEDLINE]Related articlesFree article

    19.

    Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene.

    Garg A, Speckman RA, Bowcock AM.

    Am J Med. 2002 May;112(7):549-55.PMID: 12015247 [PubMed - indexed for MEDLINE]Related articles

    20.

    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]Related articlesFree article

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