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Items: 1 to 20 of 115

1.

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
2.

Novel LMNA gene mutation in a patient with Atypical Werner's Syndrome.

Doh YJ, Kim HK, Jung ED, Choi SH, Kim JG, Kim BW, Lee IK.

Korean J Intern Med. 2009 Mar;24(1):68-72. doi: 10.3904/kjim.2009.24.1.68.

3.

LMNA mutations in atypical Werner's syndrome.

Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J.

Lancet. 2003 Aug 9;362(9382):440-5.

PMID:
12927431
4.

A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features.

Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A.

J Clin Endocrinol Metab. 2006 Feb;91(2):517-21. Epub 2005 Nov 8.

PMID:
16278265
5.

A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia.

Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK.

J Clin Endocrinol Metab. 2005 Sep;90(9):5259-64. Epub 2005 Jul 5. Review.

PMID:
15998779
6.

Atypical progeroid syndrome due to heterozygous missense LMNA mutations.

Garg A, Subramanyam L, Agarwal AK, Simha V, Levine B, D'Apice MR, Novelli G, Crow Y.

J Clin Endocrinol Metab. 2009 Dec;94(12):4971-83. doi: 10.1210/jc.2009-0472. Epub 2009 Oct 29.

7.

Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation.

Agarwal AK, Kazachkova I, Ten S, Garg A.

J Clin Endocrinol Metab. 2008 Dec;93(12):4617-23. doi: 10.1210/jc.2008-0123. Epub 2008 Sep 16.

8.

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
9.

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.

10.

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
11.

Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome.

O'Neill B, Simha V, Kotha V, Garg A.

Am J Med Genet A. 2007 Jul 1;143A(13):1421-30.

PMID:
17523150
12.

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
13.
14.

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
15.

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.

Donadille B, D'Anella P, Auclair M, Uhrhammer N, Sorel M, Grigorescu R, Ouzounian S, Cambonie G, Boulot P, Laforêt P, Carbonne B, Christin-Maitre S, Bignon YJ, Vigouroux C.

Orphanet J Rare Dis. 2013 Jul 12;8:106. doi: 10.1186/1750-1172-8-106.

16.

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.

18.

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
19.

Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation.

McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF.

Am J Med Genet A. 2009 Feb 15;149A(4):567-72. doi: 10.1002/ajmg.a.32627.

PMID:
19283854
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
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