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Items: 1 to 20 of 61

1.

Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy.

Zarrouk Mahjoub S, Mehri S, Ourda F, Finsterer J, Ben Arab S.

ISRN Cardiol. 2012;2012:251723. doi: 10.5402/2012/251723. Epub 2012 Jul 3.

2.

Mitochondrial tRNA glutamine variant in hypertrophic cardiomyopathy.

Zarrouk-Mahjoub S, Mehri S, Ouarda F, Finsterer J, Boussaada R.

Herz. 2015 May;40(3):436-41. doi: 10.1007/s00059-013-3950-8. Epub 2013 Sep 27.

PMID:
24068026
3.

Novel point mutations in the mitochondrial DNA detected in patients with dilated cardiomyopathy by screening the whole mitochondrial genome.

Ruppert V, Nolte D, Aschenbrenner T, Pankuweit S, Funck R, Maisch B.

Biochem Biophys Res Commun. 2004 May 28;318(2):535-43.

PMID:
15120634
4.

MT-CYB mutations in hypertrophic cardiomyopathy.

Hagen CM, Aidt FH, Havndrup O, Hedley PL, Jespersgaard C, Jensen M, Kanters JK, Moolman-Smook JC, Møller DV, Bundgaard H, Christiansen M.

Mol Genet Genomic Med. 2013 May;1(1):54-65. doi: 10.1002/mgg3.5. Epub 2013 Apr 12. Erratum in: Mol Genet Genomic Med. 2013 Sep;1(3):187.

5.

The complete sequence of mtDNA genes in idiopathic dilated cardiomyopathy shows novel missense and tRNA mutations.

Marin-Garcia J, Goldenthal MJ, Ananthakrishnan R, Pierpont ME.

J Card Fail. 2000 Dec;6(4):321-9.

PMID:
11145757
6.

A novel m.3395A>G missense mutation in the mitochondrial ND1 gene associated with the new tRNA(Ile) m.4316A>G mutation in a patient with hypertrophic cardiomyopathy and profound hearing loss.

Chamkha I, Mkaouar-Rebai E, Aloulou H, Chabchoub I, Kifagi C, Fendri-Kriaa N, Kammoun T, Hachicha M, Fakhfakh F.

Biochem Biophys Res Commun. 2011 Jan 7;404(1):504-10. doi: 10.1016/j.bbrc.2010.12.012. Epub 2010 Dec 6.

PMID:
21144833
7.

Human Mitochondrial Cytochrome b Variants Studied in Yeast: Not All Are Silent Polymorphisms.

Song Z, Laleve A, Vallières C, McGeehan JE, Lloyd RE, Meunier B.

Hum Mutat. 2016 Sep;37(9):933-41. doi: 10.1002/humu.23024. Epub 2016 Jun 27.

8.

Functional analysis of titin/connectin N2-B mutations found in cardiomyopathy.

Matsumoto Y, Hayashi T, Inagaki N, Takahashi M, Hiroi S, Nakamura T, Arimura T, Nakamura K, Ashizawa N, Yasunami M, Ohe T, Yano K, Kimura A.

J Muscle Res Cell Motil. 2005;26(6-8):367-74.

PMID:
16465475
9.

[Disorders of heart rhythm and conduction in dilated and hypertrophic cardiomyopathies].

Vangeli RS, Naumov VG, Grigor'iants RA, Shevliagin SA, al-Shaer A.

Ter Arkh. 1985;57(4):57-9. Russian.

PMID:
4040273
10.

Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, Comi G, Narula J, Campana C, Gavazzi A, Danesino C, Viganò M.

Heart. 1998 Dec;80(6):548-58. Erratum in: Heart 1999 Mar;81(3):330.

11.

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.

Nesti C, Meschini MC, Meunier B, Sacchini M, Doccini S, Romano A, Petrillo S, Pezzini I, Seddiki N, Rubegni A, Piemonte F, Donati MA, Brasseur G, Santorelli FM.

Hum Mol Genet. 2015 Jun 1;24(11):3248-56. doi: 10.1093/hmg/ddv078. Epub 2015 Mar 3.

PMID:
25736212
12.

Point mutations in mitochondrial DNA of patients with dilated cardiomyopathy.

Li YY, Maisch B, Rose ML, Hengstenberg C.

J Mol Cell Cardiol. 1997 Oct;29(10):2699-709.

PMID:
9344764
13.

Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders.

Sternberg D, Chatzoglou E, Laforêt P, Fayet G, Jardel C, Blondy P, Fardeau M, Amselem S, Eymard B, Lombès A.

Brain. 2001 May;124(Pt 5):984-94.

PMID:
11335700
14.

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

Watkins H, Rosenzweig A, Hwang DS, Levi T, McKenna W, Seidman CE, Seidman JG.

N Engl J Med. 1992 Apr 23;326(17):1108-14.

15.

Anaphylatoxins in dilated cardiomyopathy.

Samsonov M, Nassonov E, Masenko V, Naumov V, Mareev V, Belenkov Y.

J Intern Med. 1993 Aug;234(2):139-42.

PMID:
8340735
16.

A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy.

Mahjoub S, Sternberg D, Boussaada R, Filaut S, Gmira F, Mechmech R, Jardel C, Arab SB.

Diagn Mol Pathol. 2007 Dec;16(4):238-42.

PMID:
18043288
17.

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

Woo A, Rakowski H, Liew JC, Zhao MS, Liew CC, Parker TG, Zeller M, Wigle ED, Sole MJ.

Heart. 2003 Oct;89(10):1179-85.

18.

Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy.

Ruppert V, Meyer T, Richter A, Maisch B, Pankuweit S; German Competence Network of Heart Failure.

Gene. 2013 Jan 10;512(2):206-10. doi: 10.1016/j.gene.2012.10.055. Epub 2012 Nov 1.

PMID:
23124043
19.

Novel mitochondrial DNA mutations responsible for maternally inherited nonsyndromic hearing loss.

Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Hebert-Chatelain E, Pierron D, Feldmann D, Jonard L, Marlin S, Letellier T, Rocher C.

Hum Mutat. 2012 Apr;33(4):681-9. doi: 10.1002/humu.22023. Epub 2012 Feb 14.

PMID:
22241583
20.

Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy.

Castro MG, Huerta C, Reguero JR, Soto MI, Doménech E, Alvarez V, Gómez-Zaera M, Nunes V, González P, Corao A, Coto E.

Int J Cardiol. 2006 Sep 20;112(2):202-6. Epub 2005 Nov 28.

PMID:
16313983

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