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Items: 1 to 20 of 173

1.

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
2.

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
3.

Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.

Carrier L, Bonne G, Bährend E, Yu B, Richard P, Niel F, Hainque B, Cruaud C, Gary F, Labeit S, Bouhour JB, Dubourg O, Desnos M, Hagège AA, Trent RJ, Komajda M, Fiszman M, Schwartz K.

Circ Res. 1997 Mar;80(3):427-34.

PMID:
9048664
4.

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
5.

Comparison of two murine models of familial hypertrophic cardiomyopathy.

McConnell BK, Fatkin D, Semsarian C, Jones KA, Georgakopoulos D, Maguire CT, Healey MJ, Mudd JO, Moskowitz IP, Conner DA, Giewat M, Wakimoto H, Berul CI, Schoen FJ, Kass DA, Seidman CE, Seidman JG.

Circ Res. 2001 Mar 2;88(4):383-9.

6.

Familial hypertrophic cardiomyopathy: a genetic model of cardiac hypertrophy.

Watkins H, Seidman JG, Seidman CE.

Hum Mol Genet. 1995;4 Spec No:1721-7. Review.

PMID:
8541871
7.
9.

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

Kimura A, Harada H, Park JE, Nishi H, Satoh M, Takahashi M, Hiroi S, Sasaoka T, Ohbuchi N, Nakamura T, Koyanagi T, Hwang TH, Choo JA, Chung KS, Hasegawa A, Nagai R, Okazaki O, Nakamura H, Matsuzaki M, Sakamoto T, Toshima H, Koga Y, Imaizumi T, Sasazuki T.

Nat Genet. 1997 Aug;16(4):379-82.

PMID:
9241277
10.

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.

11.

Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein.

Rottbauer W, Gautel M, Zehelein J, Labeit S, Franz WM, Fischer C, Vollrath B, Mall G, Dietz R, Kübler W, Katus HA.

J Clin Invest. 1997 Jul 15;100(2):475-82.

12.

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.

13.

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
14.

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE.

N Engl J Med. 1998 Apr 30;338(18):1248-57.

15.

Clinical and genetical heterogeneity of familial hypertrophic cardiomyopathy.

Hengstenberg C, Carrier L, Schwartz K, Maisch B.

Herz. 1994 Apr;19(2):84-90. Review.

PMID:
8194836
16.

COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.

Flavigny J, Souchet M, Sébillon P, Berrebi-Bertrand I, Hainque B, Mallet A, Bril A, Schwartz K, Carrier L.

J Mol Biol. 1999 Nov 26;294(2):443-56.

PMID:
10610770
18.

Mutations in cardiac myosin heavy chain genes cause familial hypertrophic cardiomyopathy.

Seidman CE, Seidman JG.

Mol Biol Med. 1991 Apr;8(2):159-66. Review.

PMID:
1806760
19.

Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes.

Charron P, Dubourg O, Desnos M, Isnard R, Hagege A, Bonne G, Carrier L, Tesson F, Bouhour JB, Buzzi JC, Feingold J, Schwartz K, Komajda M.

Eur Heart J. 1998 Jan;19(1):139-45.

PMID:
9503187
20.

[High-risk hypertrophic cardiomyopathy associated with a novel mutation in cardiac Myosin-binding protein C].

García-Pavía P, Segovia J, Molano J, Mora R, Kontny F, Erik Berge K, Leren TP, Alonso-Pulpón L.

Rev Esp Cardiol. 2007 Mar;60(3):311-4. Spanish.

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