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Items: 1 to 20 of 206

1.

Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease.

Renard D, Fourcade G, Milhaud D, Bessis D, Esteves-Vieira V, Boyer A, Roll P, Bourgeois P, Levy N, De Sandre-Giovannoli A.

Stroke. 2009 Feb;40(2):e11-4. doi: 10.1161/STROKEAHA.108.531780. Epub 2008 Dec 18.

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.

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
4.

LMNA mutations in progeroid syndromes.

Huang S, Kennedy BK, Oshima J.

Novartis Found Symp. 2005;264:197-202; discussion 202-7, 227-30. Review.

PMID:
15773755
5.

Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation.

Madej-Pilarczyk A, Rosińska-Borkowska D, Rekawek J, Marchel M, Szaluś E, Jabłońska S, Hausmanowa-Petrusewicz I.

Am J Med Genet A. 2009 Nov;149A(11):2387-92. doi: 10.1002/ajmg.a.33018.

PMID:
19842191
6.

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
7.

Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement.

Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli S, Orrù P, Marrosu MG.

Muscle Nerve. 2010 Jan;41(1):85-91. doi: 10.1002/mus.21443.

PMID:
19768759
8.

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
9.

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
10.

Heart involvement in lamin A/C related diseases.

Ben Yaou R, Gueneau L, Demay L, Stora S, Chikhaoui K, Richard P, Bonne G.

Arch Mal Coeur Vaiss. 2006 Sep;99(9):848-55. Review.

PMID:
17067107
11.
12.

Laminopathies, other progeroid disorders, and aging: common pathogenic themes and possible treatments.

Neilan EG.

Am J Med Genet A. 2009 Feb 15;149A(4):563-6. doi: 10.1002/ajmg.a.32702. No abstract available.

PMID:
19248181
13.

[Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].

Rudenskaia GE, Tverskaia SM, Chukhrova AL, Zakliaz'minskaia EV, Kuropatkina IuV, Dadali EL, Perminov VS, Poliakov AV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2006;106(10):58-65. Russian.

PMID:
17117676
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.

15.

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.

16.

Werner syndrome and mutations of the WRN and LMNA genes in France.

Uhrhammer NA, Lafarge L, Dos Santos L, Domaszewska A, Lange M, Yang Y, Aractingi S, Bessis D, Bignon YJ.

Hum Mutat. 2006 Jul;27(7):718-9.

PMID:
16786514
17.

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
18.

Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.

Rudnik-Schöneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schröder R, Wehnert M, Wirth B, Zerres K.

Neurogenetics. 2007 Apr;8(2):137-42. Epub 2006 Nov 29.

PMID:
17136397
19.

Search and insights into novel genetic alterations leading to classical and atypical Werner syndrome.

Oshima J, Hisama FM.

Gerontology. 2014;60(3):239-46. doi: 10.1159/000356030. Epub 2014 Jan 3. Review.

20.

Heart-hand syndrome of Slovenian type: a new kind of laminopathy.

Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L, Richard P, Peterlin B, Bonne G.

J Med Genet. 2008 Oct;45(10):666-71. doi: 10.1136/jmg.2008.060020. Epub 2008 Jul 8.

PMID:
18611980
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