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Results: 1 to 20 of 195

1.

Elevated serum C-reactive protein and free fatty acids among nondiabetic carriers of missense mutations in the gene encoding lamin A/C (LMNA) with partial lipodystrophy.

Hegele RA, Kraw ME, Ban MR, Miskie BA, Huff MW, Cao H.

Arterioscler Thromb Vasc Biol. 2003 Jan 1;23(1):111-6.

PMID:
12524233
[PubMed - indexed for MEDLINE]
Free Article
2.

Association between nuclear lamin A/C R482Q mutation and partial lipodystrophy with hyperinsulinemia, dyslipidemia, hypertension, and diabetes.

Hegele RA, Anderson CM, Wang J, Jones DC, Cao H.

Genome Res. 2000 May;10(5):652-8.

PMID:
10810087
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Premature atherosclerosis associated with monogenic insulin resistance.

Hegele RA.

Circulation. 2001 May 8;103(18):2225-9.

PMID:
11342468
[PubMed - indexed for MEDLINE]
Free Article
4.

Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety.

Haque WA, Oral EA, Dietz K, Bowcock AM, Agarwal AK, Garg A.

Diabetes Care. 2003 May;26(5):1350-5.

PMID:
12716787
[PubMed - indexed for MEDLINE]
5.

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]
6.

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C.

Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM.

Am J Hum Genet. 2000 Apr;66(4):1192-8. Erratum in: Am J Hum Genet 2000 Sep;67(3):775.

PMID:
10739751
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Familial partial lipodystrophy: a monogenic form of the insulin resistance syndrome.

Hegele RA.

Mol Genet Metab. 2000 Dec;71(4):539-44. Review.

PMID:
11136544
[PubMed - indexed for MEDLINE]
8.

Phenotypic gender differences in subjects with familial partial lipodystrophy (Dunnigan variety) due to a nuclear lamin A/C R482W mutation.

Araújo-Vilar D, Loidi L, Domínguez F, Cabezas-Cerrato J.

Horm Metab Res. 2003 Jan;35(1):29-35.

PMID:
12669268
[PubMed - indexed for MEDLINE]
9.

Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy.

Cao H, Hegele RA.

Hum Mol Genet. 2000 Jan 1;9(1):109-12.

PMID:
10587585
[PubMed - indexed for MEDLINE]
Free Article
10.

Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy.

Hegele RA, Cao H, Anderson CM, Hramiak IM.

J Clin Endocrinol Metab. 2000 Sep;85(9):3431-5.

PMID:
10999845
[PubMed - indexed for MEDLINE]
11.

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]
12.

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]
13.

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]
14.

Insulin resistance in human partial lipodystrophy.

Hegele RA.

Curr Atheroscler Rep. 2000 Sep;2(5):397-404. Review.

PMID:
11122771
[PubMed - indexed for MEDLINE]
15.

A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease.

Imachi H, Murao K, Ohtsuka S, Fujiwara M, Muraoka T, Hosokawa H, Ishida T.

Endocrine. 2009 Feb;35(1):18-21. doi: 10.1007/s12020-008-9127-1. Epub 2008 Nov 15.

PMID:
19011997
[PubMed - indexed for MEDLINE]
16.

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 Article
17.

Phenotypic diversity in patients with lipodystrophy associated with LMNA mutations.

Mory PB, Crispim F, Freire MB, Salles JE, Valério CM, Godoy-Matos AF, Dib SA, Moisés RS.

Eur J Endocrinol. 2012 Sep;167(3):423-31. doi: 10.1530/EJE-12-0268. Epub 2012 Jun 14.

PMID:
22700598
[PubMed - indexed for MEDLINE]
Free Article
18.

Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.

Garg A, Vinaitheerthan M, Weatherall PT, Bowcock AM.

J Clin Endocrinol Metab. 2001 Jan;86(1):59-65.

PMID:
11231979
[PubMed - indexed for MEDLINE]
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]
20.

Hepatic steatosis in Dunnigan-type familial partial lipodystrophy.

Lüdtke A, Genschel J, Brabant G, Bauditz J, Taupitz M, Koch M, Wermke W, Worman HJ, Schmidt HH.

Am J Gastroenterol. 2005 Oct;100(10):2218-24.

PMID:
16181372
[PubMed - indexed for MEDLINE]

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