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Items: 1 to 20 of 169

1.

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G.

Am J Hum Genet. 2002 Aug;71(2):426-31.

2.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

3.

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.

Agarwal AK, Fryns JP, Auchus RJ, Garg A.

Hum Mol Genet. 2003 Aug 15;12(16):1995-2001.

PMID:
12913070
4.
6.

Mutations in the LMNA gene encoding lamin A/C.

Genschel J, Schmidt HH.

Hum Mutat. 2000 Dec;16(6):451-9. Review.

PMID:
11102973
7.

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
8.

LMNA, encoding lamin A/C, is mutated in partial lipodystrophy.

Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC.

Nat Genet. 2000 Feb;24(2):153-6.

PMID:
10655060
9.

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.

Vigouroux C, Auclair M, Dubosclard E, Pouchelet M, Capeau J, Courvalin JC, Buendia B.

J Cell Sci. 2001 Dec;114(Pt 24):4459-68.

10.

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
11.

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.

Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE.

Am J Med Genet. 2001 Sep 1;102(4):359-67.

PMID:
11503164
12.

Subcutaneous abdominal adipocyte size, a predictor of type 2 diabetes, is linked to chromosome 1q21--q23 and is associated with a common polymorphism in LMNA in Pima Indians.

Weyer C, Wolford JK, Hanson RL, Foley JE, Tataranni PA, Bogardus C, Pratley RE.

Mol Genet Metab. 2001 Mar;72(3):231-8.

PMID:
11243729
13.

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. Review.

PMID:
15998779
14.
15.

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.

16.

Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?

Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Récan-Budiartha D, Bonne G.

Neurology. 2007 May 29;68(22):1883-94.

PMID:
17536044
17.

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
18.

Pushing the envelope on lipodystrophy.

Flier JS.

Nat Genet. 2000 Feb;24(2):103-4.

PMID:
10655047
19.
20.

Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease.

Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE.

J Card Fail. 2001 Sep;7(3):249-56.

PMID:
11561226
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