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Items: 1 to 20 of 122

1.

Alpha-cardiac actin is a novel disease gene in familial hypertrophic cardiomyopathy.

Mogensen J, Klausen IC, Pedersen AK, Egeblad H, Bross P, Kruse TA, Gregersen N, Hansen PS, Baandrup U, Borglum AD.

J Clin Invest. 1999 May 15;103(10):R39-43.

2.

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.

Olson TM, Doan TP, Kishimoto NY, Whitby FG, Ackerman MJ, Fananapazir L.

J Mol Cell Cardiol. 2000 Sep;32(9):1687-94.

PMID:
10966831
3.

A disease locus for familial hypertrophic cardiomyopathy maps to chromosome 1q3.

Watkins H, MacRae C, Thierfelder L, Chou YH, Frenneaux M, McKenna W, Seidman JG, Seidman CE.

Nat Genet. 1993 Apr;3(4):333-7.

PMID:
7981753
4.

Actin mutations in dilated cardiomyopathy, a heritable form of heart failure.

Olson TM, Michels VV, Thibodeau SN, Tai YS, Keating MT.

Science. 1998 May 1;280(5364):750-2.

5.

No variants in the cardiac actin gene in Finnish patients with dilated or hypertrophic cardiomyopathy.

Kärkkäinen S, Peuhkurinen K, Jääskeläinen P, Miettinen R, Kärkkäinen P, Kuusisto J, Laakso M.

Am Heart J. 2002 Jun;143(6):E6.

PMID:
12075240
6.

Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes.

Kaski JP, Syrris P, Burch M, Tomé-Esteban MT, Fenton M, Christiansen M, Andersen PS, Sebire N, Ashworth M, Deanfield JE, McKenna WJ, Elliott PM.

Heart. 2008 Nov;94(11):1478-84. doi: 10.1136/hrt.2007.134684. Epub 2008 May 8.

PMID:
18467357
7.

Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.

Dausse E, Komajda M, Fetler L, Dubourg O, Dufour C, Carrier L, Wisnewsky C, Bercovici J, Hengstenberg C, al-Mahdawi S, et al.

J Clin Invest. 1993 Dec;92(6):2807-13.

8.

Novel locus for an inherited cardiomyopathy maps to chromosome 7.

Song L, DePalma SR, Kharlap M, Zenovich AG, Cirino A, Mitchell R, McDonough B, Maron BJ, Seidman CE, Seidman JG, Ho CY.

Circulation. 2006 May 9;113(18):2186-92. Epub 2006 May 1.

9.

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

Watkins H, Conner D, Thierfelder L, Jarcho JA, MacRae C, McKenna WJ, Maron BJ, Seidman JG, Seidman CE.

Nat Genet. 1995 Dec;11(4):434-7.

PMID:
7493025
11.

Genetic heterogeneity of familial hypertrophic cardiomyopathy.

Dausse E, Schwartz K.

Neuromuscul Disord. 1993 Sep-Nov;3(5-6):483-6.

PMID:
8186698
12.

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, Seidman JG, Seidman CE.

Cell. 1994 Jun 3;77(5):701-12.

PMID:
8205619
13.

A novel titin mutation in adult-onset familial dilated cardiomyopathy.

Yoskovitz G, Peled Y, Gramlich M, Lahat H, Resnik-Wolf H, Feinberg MS, Afek A, Pras E, Arad M, Gerull B, Freimark D.

Am J Cardiol. 2012 Jun 1;109(11):1644-50. doi: 10.1016/j.amjcard.2012.01.392. Epub 2012 Apr 3.

PMID:
22475360
14.

Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

Yu B, French JA, Carrier L, Jeremy RW, McTaggart DR, Nicholson MR, Hambly B, Semsarian C, Richmond DR, Schwartz K, Trent RJ.

J Med Genet. 1998 Mar;35(3):205-10. Erratum in: J Med Genet 1998 Jun;35(6):528.

15.

Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.

Bundgaard H, Havndrup O, Andersen PS, Larsen LA, Brandt NJ, Vuust J, Kjeldsen K, Christiansen M.

J Mol Cell Cardiol. 1999 Apr;31(4):745-50.

PMID:
10329202
16.

Identification of a mutation near a functional site of the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.

Dufour C, Dausse E, Fetler L, Dubourg O, Bouhour JB, Vosberg HP, Guicheney P, Komajda M, Schwartz K.

J Mol Cell Cardiol. 1994 Sep;26(9):1241-7.

PMID:
7815466
17.

Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.

Flavigny J, Richard P, Isnard R, Carrier L, Charron P, Bonne G, Forissier JF, Desnos M, Dubourg O, Komajda M, Schwartz K, Hainque B.

J Mol Med (Berl). 1998 Mar;76(3-4):208-14.

PMID:
9535554
18.

Mutational analysis of the cardiac actin gene in familial and sporadic dilated cardiomyopathy.

Takai E, Akita H, Shiga N, Kanazawa K, Yamada S, Terashima M, Matsuda Y, Iwai C, Kawai K, Yokota Y, Yokoyama M.

Am J Med Genet. 1999 Oct 8;86(4):325-7.

PMID:
10494087
19.

Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.

Ko YL, Chen JJ, Tang TK, Cheng JJ, Lin SY, Liou YC, Kuan P, Wu CW, Lien WP, Liew CC.

Hum Genet. 1996 May;97(5):585-90.

PMID:
8655135
20.

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.

Bonne G, Carrier L, Bercovici J, Cruaud C, Richard P, Hainque B, Gautel M, Labeit S, James M, Beckmann J, Weissenbach J, Vosberg HP, Fiszman M, Komajda M, Schwartz K.

Nat Genet. 1995 Dec;11(4):438-40.

PMID:
7493026

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