SCOPUS 정보 검색 플랫폼

Current Controlled Trials in Cardiovascular Medicine

Volumn 1, Issue 1, 2000, Pages 41-44

Genetic counselling for hypertrophic cardiomyopathy: Are we ready for it?

(1) Vosberg, H P a

a MAX PLANCK INSTITUTE FOR HEART AND LUNG RESEARCH (Germany)

Author keywords

Genetic counselling; Hypertrophic cardiomyopathy; Risk stratification; Sarcomeric genes; Sudden cardiac death

Indexed keywords

CONTRACTILE PROTEIN; TROPOMYOSIN;

CARDIOLOGY; CONTROLLED STUDY; DISEASE CARRIER; DOMINANT INHERITANCE; GENE MUTATION; GENETIC COUNSELING; GENETIC DISORDER; HEART MUSCLE; HETEROZYGOTE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; MEDICAL SPECIALIST; MOLECULAR BIOLOGY; NOTE; RISK; SARCOMERE; SUDDEN DEATH; SYMPTOM; THEORY;

EID: 0034466611 PISSN: 14686708 EISSN: None Source Type: Journal
DOI: 10.1186/CVM-1-1-041 Document Type: Note

Times cited : (6)

References (21)

1
- 0029083650
- Prevalence of hypertrophic cardiomyopathy in a general population of young adults
- Echocardiographic analysis of 4111 subjects in the CARDIA study
- (1995) Circulation , vol.92 , pp. 785-789
- Maron, B.J.¹ Gardin, J.M.² Flack, J.M.³ Gidding, S.S.⁴ Kurosaki, T.T.⁵ Bild, E.D.⁶

2
- 0031049263
- Experience from clinical genetics in hypertrophic cardiomyopathy: Proposal for new diagnostic criteria in adult members of affected families
- (1997) Heart , vol.77 , pp. 130-132
- McKenna, W.¹ Spirito, P.² Desnos, M.³ Dubourg, O.⁴ Komajda, M.⁵

3
- 0023130164
- Hypertrophic cardiomyopathy. Interrelations of clinical manifestation, pathophysiology, and therapy
- 780-789 (PART 1)
- (1987) N Engl J Med , vol.316 , Issue.PART II , pp. 844-852
- Maron, B.J.¹ Bonow, R.O.² Cannon III, R.O.³ Leon, M.B.⁴ Epstein, S.E.⁵

4
- 0005782269
- FHC Mutation Database:

5
- 0031092272
- The human gene mutation database
- (1997) Trends Genet , vol.13 , pp. 121-122
- Krawczak, M.¹ Cooper, D.N.²

6
- 0028178083
- α-Tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
- (1994) Cell , vol.77 , pp. 701-712
- Thierfelder, L.¹ Watkins, H.² MacRae, C.³ Lamas, R.⁴ McKenna, W.⁵ Vosberg, H.P.⁶ Seidman, J.G.⁷ Seidman, C.E.⁸

7
- 0033525753
- 403/+ mouse model of familial hypertrophic cardiomyopathy
- (1998) Circ Res , vol.84 , pp. 475-483
- Blanchard, E.¹ Seidman, C.² Seidman, J.G.³ LeWinter, M.⁴ Maughan, D.⁵

8
- 0034614419
- Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy
- (2000) J Biol Chem , vol.275 , pp. 624-630
- Szczesna, D.¹ Zhang, R.² Zhao, J.³ Jones, M.⁴ Guzman, G.⁵ Potter, J.D.⁶

9
- 0032724289
- Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins
- (1999) J Clin Invest , vol.103 , pp. 1459-1467
- Rust, E.M.¹ Albayya, F.P.² Metzger, J.M.³

10
- 0032540267
- A calcineurin-dependent transcriptional pathway for cardiac hypertrophy
- (1998) Cell , vol.93 , pp. 215-228
- Molkentin, J.D.¹ Lu, J.R.² Antos, C.L.³ Markham, B.⁴ Richardson, J.⁵ Robbins, J.⁶ Grant, S.R.⁷ Olson, E.N.⁸

11
- 0026485701
- Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations
- (1992) J Clin Invest , vol.90 , pp. 1666-1671
- Watkins, H.¹ Thierfelder, L.² Hwang, D.S.³ McKenna, W.⁴ Seidman, J.G.⁵ Seidman, C.E.⁶

12
- 0031922826
- A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated β-myosin heavy chain genes
- (1998) Hum Genet , vol.102 , pp. 299-304
- Jeschke, B.¹ Uhl, K.² Weist, B.³ Schröder, D.⁴ Meitinger, T.⁵ Döhlemann, C.⁶ Vosberg, H.P.⁷

13
- 0034724252
- A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance
- (2000) Circulation , vol.101 , pp. 1396-1402
- Moolman, J.¹ Reith, S.² Uhl, K.³ Bailey, S.⁴ Gautel, M.⁵ Jeschke, B.⁶ Fischer, C.⁷ Ochs, J.⁸ McKenna, W.J.⁹ Klues, H.¹⁰ Vosberg, H.P.¹¹

14
- 0031042881
- Clinical features of hypertrophic cardiomyopathy caused by mutation of a "hot spot" in the alpha-tropomyosin gene
- (1997) J Am Coll Cardiol , vol.29 , pp. 635-640
- Coviello, D.A.¹ Maron, B.J.² Spirito, P.³ Watkins, H.⁴ Vosberg, H.P.⁵ Thierfelder, L.⁶ Schoen, F.J.⁷ Seidman, J.G.⁸ Seidman, C.E.⁹

15
- 0026573969
- Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
- (1992) N Engl J Med , vol.326 , pp. 1108-1114
- Watkins, H.¹ Rosenzweig, A.² Hwang, D.S.³ Levi, T.⁴ McKenna, W.⁵ Seidman, C.E.⁶ Seidman, J.G.⁷

16
- 0032451091
- The future of preimplantation genetic diagnosis
- (1998) Hum Reproduct , vol.13 , Issue.SUPPL. 4 , pp. 249-255
- Handyside, A.H.¹ Scriven, P.N.² Ogilvie, C.M.³

17
- 0028097410
- Risk factors and stratification for sudden death in patients with hypertrophic cardiomyopathy
- (1994) Br Heart J , Issue.SUPPL. 6
- Maron, B.J.¹ Cecchi, F.² McKenna, W.J.³

18
- 0034660438
- Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy
- (2000) N Engl J Med , vol.342 , pp. 1778-1785
- Spirito, P.¹ Bellone, P.² Harris, K.M.³ Bernabo, P.⁴ Bruzzi, P.⁵ Maron, B.J.⁶

19
- 0026727915
- Genetic testing for hypertrophic cardiomyopathy
- (1992) N Engl J Med , vol.327 , pp. 1175
- Clarke, A.¹ Harper, P.²

20
- 0027924820
- Screening for hypertrophic cardiomyopathy
- (1993) Br Med J , vol.306 , pp. 860
- McLatchie, G.R.¹ McKenna, W.J.² Hillis, W.S.³ Yorath, T.⁴ Goodwin, J.F.⁵ Tunstall Pedoe, D.S.⁶ Butler, C.⁷ Davies, G.⁸ Davies, M.J.⁹

21
- 0031080069
- The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease mutation
- (1997) J Mol Cell Cardiol , vol.29 , pp. 831-838
- Tesson, F.¹ Dufour, C.² Moolman, J.C.³ Carrier, L.⁴ al-Mahdawi, S.⁵ Chojnowska, L.⁶ Dubourg, O.⁷ Soubrier, E.⁸ Brink, P.⁹ Komajda, M.¹⁰ Guicheney, P.¹¹ Schwartz, K.¹² Feingold, J.¹³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.