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Results: 1 to 20 of 92

1.

Body fat distribution in women with familial partial lipodystrophy caused by mutation in the lamin A/C gene.

Monteiro LZ, Foss-Freitas MC, Júnior Montenegro RM, Foss MC.

Indian J Endocrinol Metab. 2012 Jan;16(1):136-8. doi: 10.4103/2230-8210.91209.

PMID:
22276265
[PubMed]
Free PMC Article
2.

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]
3.

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
4.

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]
5.

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
6.

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]
7.

[Dunnigan-type familial partial lipodystrophy: attention to precocious diagnosis].

Leão LM, Alencar RC, Rodrigues Gda C, Bouzas I, Gallo P, Rossini A.

Rev Bras Ginecol Obstet. 2011 Feb;33(2):99-103. Portuguese.

PMID:
21779653
[PubMed - indexed for MEDLINE]
Free Article
8.

Dunnigan-type familial partial lipodystrophy associated with the heterozygous R482W mutation in LMNA gene - case study of three women from one family.

Nabrdalik K, Strózik A, Minkina-Pędras M, Jarosz-Chobot P, Młynarski W, Grzeszczak W, Gumprecht J.

Endokrynol Pol. 2013;64(4):306-11.

PMID:
24002959
[PubMed - in process]
Free Article
9.

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]
10.

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. doi: 10.1097/AOG.0b013e31819feaa9.

PMID:
19622949
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

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]
12.

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
13.

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]
14.

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
15.

Post-mortem findings in familial partial lipodystrophy, Dunnigan variety.

Haque WA, Vuitch F, Garg A.

Diabet Med. 2002 Dec;19(12):1022-5.

PMID:
12647844
[PubMed - indexed for MEDLINE]
16.

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]
17.

Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations.

Subramanyam L, Simha V, Garg A.

Clin Genet. 2010 Jul;78(1):66-73. doi: 10.1111/j.1399-0004.2009.01350.x. Epub 2009 Dec 22.

PMID:
20041886
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan variety.

Ji H, Weatherall P, Adams-Huet B, Garg A.

J Clin Endocrinol Metab. 2013 Aug;98(8):E1410-3. doi: 10.1210/jc.2013-1297. Epub 2013 Jun 19.

PMID:
23783098
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Failure of lamin A/C to functionally assemble in R482L mutated familial partial lipodystrophy fibroblasts: altered intermolecular interaction with emerin and implications for gene transcription.

Capanni C, Cenni V, Mattioli E, Sabatelli P, Ognibene A, Columbaro M, Parnaik VK, Wehnert M, Maraldi NM, Squarzoni S, Lattanzi G.

Exp Cell Res. 2003 Nov 15;291(1):122-34.

PMID:
14597414
[PubMed - indexed for MEDLINE]
20.

Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation.

Valerio CM, Zajdenverg L, de Oliveira JE, Mory PB, Moyses RS, Godoy-Matos AF.

Diabetol Metab Syndr. 2012 Aug 31;4(1):40. doi: 10.1186/1758-5996-4-40.

PMID:
22938045
[PubMed]
Free PMC Article

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