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Results: 1 to 20 of 268

1.

A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.

Hershberger RE, Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Litt M.

Am Heart J. 2002 Dec;144(6):1081-6.

PMID:
12486434
[PubMed - indexed for MEDLINE]
2.

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.

Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Müehle G, Johnson W, McDonough B.

N Engl J Med. 1999 Dec 2;341(23):1715-24.

PMID:
10580070
[PubMed - indexed for MEDLINE]
Free Article
3.

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
[PubMed - indexed for MEDLINE]
4.

High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.

van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP; Working Group on Inherited Cardiac Disorders, line 27/50, Interuniversity Cardiology Institute of The Netherlands.

Am Heart J. 2007 Dec;154(6):1130-9. Epub 2007 Sep 14.

PMID:
18035086
[PubMed - indexed for MEDLINE]
5.

Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype.

Charniot JC, Pascal C, Bouchier C, Sébillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M.

Hum Mutat. 2003 May;21(5):473-81.

PMID:
12673789
[PubMed - indexed for MEDLINE]
6.

Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations.

Sébillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaïche A, Charniot JC, Schwartz K, Villard E, Komajda M.

J Med Genet. 2003 Aug;40(8):560-7.

PMID:
12920062
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy.

Antoniades L, Eftychiou C, Kyriakides T, Christodoulou K, Katritsis DG.

J Interv Card Electrophysiol. 2007 Jun;19(1):1-7. Epub 2007 Jun 29.

PMID:
17605093
[PubMed - indexed for MEDLINE]
8.

Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy.

Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Böhm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C.

Basic Res Cardiol. 2009 Jan;104(1):90-9. doi: 10.1007/s00395-008-0748-6. Epub 2008 Sep 15.

PMID:
18795223
[PubMed - indexed for MEDLINE]
9.

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]
10.

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.

Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F.

Ann Neurol. 2000 Aug;48(2):170-80.

PMID:
10939567
[PubMed - indexed for MEDLINE]
11.

Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.

Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L.

J Am Coll Cardiol. 2002 Mar 20;39(6):981-90.

PMID:
11897440
[PubMed - indexed for MEDLINE]
Free Article
12.

R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B.

Yuan WL, Huang CY, Wang JF, Xie SL, Nie RQ, Liu YM, Liu PM, Zhou SX, Chen SQ, Huang WJ.

Chin Med J (Engl). 2009 Dec 5;122(23):2840-5.

PMID:
20092787
[PubMed - indexed for MEDLINE]
Free Article
13.

Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene.

Otomo J, Kure S, Shiba T, Karibe A, Shinozaki T, Yagi T, Naganuma H, Tezuka F, Miura M, Ito M, Watanabe J, Matsubara Y, Shirato K.

J Cardiovasc Electrophysiol. 2005 Feb;16(2):137-45.

PMID:
15720451
[PubMed - indexed for MEDLINE]
14.

Identification of novel mutations in LMNA associated with familial forms of dilated cardiomyopathy.

Stallmeyer B, Koopmann M, Schulze-Bahr E.

Genet Test Mol Biomarkers. 2012 Jun;16(6):543-9. doi: 10.1089/gtmb.2011.0214. Epub 2012 Jan 6.

PMID:
22224630
[PubMed - indexed for MEDLINE]
15.

Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.

Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L; Familial Dilated Cardiomyopathy Registry Research Group.

J Am Coll Cardiol. 2003 Mar 5;41(5):771-80. Erratum in: J Am Coll Cardiol. 2003 Aug 6;42(3):590.

PMID:
12628721
[PubMed - indexed for MEDLINE]
Free Article
16.

A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy.

Kärkkäinen S, Heliö T, Miettinen R, Tuomainen P, Peltola P, Rummukainen J, Ylitalo K, Kaartinen M, Kuusisto J, Toivonen L, Nieminen MS, Laakso M, Peuhkurinen K.

Eur Heart J. 2004 May;25(10):885-93.

PMID:
15140538
[PubMed - indexed for MEDLINE]
Free Article
17.

Dilated cardiomyopathy caused by LMNA mutations. Clinical and morphological studies.

Bilińska ZT, Sylvius N, Grzybowski J, Fidziańska A, Michalak E, Walczak E, Walski M, Bieganowska K, Szymaniak E, Kuśmierczyk-Droszcz B, Lubiszewska B, Wagner T, Tesson F, Ruzyłło W.

Kardiol Pol. 2006 Aug;64(8):812-9; discussion 820-1.

PMID:
16981056
[PubMed - indexed for MEDLINE]
18.

LMNA mutations in Polish patients with dilated cardiomyopathy: prevalence, clinical characteristics, and in vitro studies.

Saj M, Bilinska ZT, Tarnowska A, Sioma A, Bolongo P, Sobieszczanska-Malek M, Michalak E, Golen D, Mazurkiewicz L, Malek L, Walczak E, Fidzianska A, Grzybowski J, Przybylski A, Zielinski T, Korewicki J, Tesson F, Ploski R.

BMC Med Genet. 2013 May 23;14:55. doi: 10.1186/1471-2350-14-55.

PMID:
23702046
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy.

Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Dienel NH, Litt M, Hershberger RE.

J Card Fail. 2002 Feb;8(1):28-32.

PMID:
11862580
[PubMed - indexed for MEDLINE]
20.

[A novel LMNA gene mutation E82K associated with familial dilated cardiomyopathy].

Wang H, Zheng WY, Wang JZ, Wang XJ, Zhen YS, Song L, Zou YB, Hui RT.

Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Oct;33(10):875-9. Chinese.

PMID:
16266469
[PubMed - indexed for MEDLINE]

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