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Volumn 121, Issue 2, 2007, Pages 275-284

Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; AORTA VALVE DISEASE; ARTICLE; CARDIOVASCULAR MALFORMATION; CHILD; CHROMOSOME 13Q; CHROMOSOME 18Q; CHROMOSOME 5Q; CHROMOSOME 7Q; CHROMOSOME 9Q; DATA ANALYSIS SOFTWARE; ECHOCARDIOGRAPHY; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENOME ANALYSIS; HEART DEVELOPMENT; HUMAN; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; NONPARAMETRIC TEST; PARAMETRIC TEST; PHENOTYPE; PRIORITY JOURNAL;

EID: 33947144645     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0316-9     Document Type: Article
Times cited : (157)

References (40)
  • 1
    • 0031966959 scopus 로고    scopus 로고
    • Multipoint quantitative-trait linkage analysis in general pedigrees
    • Almasy L, Blangero J (1998) Multipoint quantitative-trait linkage analysis in general pedigrees. Am J Hum Genet 62:1198-1211
    • (1998) Am J Hum Genet , vol.62 , pp. 1198-1211
    • Almasy, L.1    Blangero, J.2
  • 3
    • 4444320851 scopus 로고    scopus 로고
    • Heart valve development: Endothelial cell signaling and differentiation
    • Armstrong EJ, Bischoff J (2004) Heart valve development: Endothelial cell signaling and differentiation. Circ Res 95:459-470
    • (2004) Circ Res , vol.95 , pp. 459-470
    • Armstrong, E.J.1    Bischoff, J.2
  • 4
    • 0036696087 scopus 로고    scopus 로고
    • The genetics of congenital heart disease: A point in the revolution
    • Benson DW (2002) The genetics of congenital heart disease: A point in the revolution. Cardiol Clin 20:385-394
    • (2002) Cardiol Clin , vol.20 , pp. 385-394
    • Benson, D.W.1
  • 5
    • 33646257304 scopus 로고    scopus 로고
    • Fostering international collaboration in birth defects research and prevention: A perspective from the International Clearinghouse for Birth Defects Surveillance and Research
    • Botto LD, Robert-Gnansia E, Siffel C, Harris J, Borman B, Mastroiacovo P (2006) Fostering international collaboration in birth defects research and prevention: A perspective from the International Clearinghouse for Birth Defects Surveillance and Research. Am J Public Health 96:774-780
    • (2006) Am J Public Health , vol.96 , pp. 774-780
    • Botto, L.D.1    Robert-Gnansia, E.2    Siffel, C.3    Harris, J.4    Borman, B.5    Mastroiacovo, P.6
  • 6
    • 33645957354 scopus 로고    scopus 로고
    • Transcription factors and congenital heart defects
    • Clark KL, Yutzey KE, Benson DW (2006) Transcription factors and congenital heart defects. Annu Rev Physiol 68:97-121
    • (2006) Annu Rev Physiol , vol.68 , pp. 97-121
    • Clark, K.L.1    Yutzey, K.E.2    Benson, D.W.3
  • 7
    • 0025948890 scopus 로고
    • White-black differences in cardiovascular malformations in infancy and socioeconomic factors. The Baltimore-Washington Infant Study Group
    • Correa-Villasenor A, McCarter R, Downing J, Ferencz C (1991) White-black differences in cardiovascular malformations in infancy and socioeconomic factors. The Baltimore-Washington Infant Study Group. Am J Epidemiol 134:393-402
    • (1991) Am J Epidemiol , vol.134 , pp. 393-402
    • Correa-Villasenor, A.1    McCarter, R.2    Downing, J.3    Ferencz, C.4
  • 9
    • 0031472342 scopus 로고    scopus 로고
    • A variance component approach to dichotomous trait linkage analysis using a threshold model
    • Duggirala R, Williams JT, Williams-Blangero S, Blangero J (1997) A variance component approach to dichotomous trait linkage analysis using a threshold model. Genet Epidemiol 14:987-992
    • (1997) Genet Epidemiol , vol.14 , pp. 987-992
    • Duggirala, R.1    Williams, J.T.2    Williams-Blangero, S.3    Blangero, J.4
  • 11
    • 0029061401 scopus 로고
    • Molecular regulation of atrioventricular valvuloseptal morphogenesis
    • Eisenberg LM, Markwald RR (1995) Molecular regulation of atrioventricular valvuloseptal morphogenesis. Circ Res 77:1-6
    • (1995) Circ Res , vol.77 , pp. 1-6
    • Eisenberg, L.M.1    Markwald, R.R.2
  • 12
    • 0018231603 scopus 로고
    • Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families
    • Emanuel R, Withers R, O'Brien K, Ross P, Feizi O (1978) Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families. Br Heart J 40:1402-1407
    • (1978) Br Heart J , vol.40 , pp. 1402-1407
    • Emanuel, R.1    Withers, R.2    O'Brien, K.3    Ross, P.4    Feizi, O.5
  • 13
    • 0003280406 scopus 로고    scopus 로고
    • Genetic and environmental risk factors of major cardiovascular malformations: The Baltimore-Washington Infant Study 1981-1989
    • In: Anderson RH (ed) Futura Publishing, Mount Kisco
    • Ferencz C, Rubin JD, Loffredo CA, Wilson PD (1997) Genetic and environmental risk factors of major cardiovascular malformations: The Baltimore-Washington Infant Study 1981-1989. In: Anderson RH (ed) Perspectives in pediatric cardiology, vol 5. Futura Publishing, Mount Kisco
    • (1997) Perspectives in Pediatric Cardiology , vol.5
    • Ferencz, C.1    Rubin, J.D.2    Loffredo, C.A.3    Wilson, P.D.4
  • 15
    • 0026530616 scopus 로고
    • Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves
    • Hahn RT, Roman MJ, Mogtader AH, Devereux RB (1992) Association of aortic dilation with regurgitant, stenotic and functionally normal bicuspid aortic valves. J Am Coll Cardiol 19:283-288
    • (1992) J Am Coll Cardiol , vol.19 , pp. 283-288
    • Hahn, R.T.1    Roman, M.J.2    Mogtader, A.H.3    Devereux, R.B.4
  • 16
    • 30344443847 scopus 로고    scopus 로고
    • Multipoint identity-by-descent computations for single-point polymorphism and microsatellite maps
    • Hinrichs AL, Bertelsen S, Bierut LJ, Dunn G, Jin CH, Kauwe JS, Suarez BK (2005) Multipoint identity-by-descent computations for single-point polymorphism and microsatellite maps. BMC Genet 6(Suppl 1):S34
    • (2005) BMC Genet , vol.6 , Issue.SUPPL. 1
    • Hinrichs, A.L.1    Bertelsen, S.2    Bierut, L.J.3    Dunn, G.4    Jin, C.H.5    Kauwe, J.S.6    Suarez, B.K.7
  • 17
    • 21744444444 scopus 로고    scopus 로고
    • Congenital heart disease: Genetic causes and developmental insights
    • Hinton Jr RB, Yutzey KE, Benson DW (2005) Congenital heart disease: genetic causes and developmental insights. Prog Ped Cardiol 20:101-111
    • (2005) Prog Ped Cardiol , vol.20 , pp. 101-111
    • Hinton Jr., R.B.1    Yutzey, K.E.2    Benson, D.W.3
  • 19
    • 0025373428 scopus 로고
    • Congenital heart disease: Incidence and inheritance
    • Hoffman JI (1990) Congenital heart disease: Incidence and inheritance. Pediatr Clin North Am 37:25-43
    • (1990) Pediatr Clin North Am , vol.37 , pp. 25-43
    • Hoffman, J.I.1
  • 20
    • 0037134945 scopus 로고    scopus 로고
    • The incidence of congenital heart disease
    • Hoffman JI, Kaplan S (2002) The incidence of congenital heart disease. J Am Coll Cardiol 39:1890-1900
    • (2002) J Am Coll Cardiol , vol.39 , pp. 1890-1900
    • Hoffman, J.I.1    Kaplan, S.2
  • 21
    • 0019920786 scopus 로고
    • Extensions to multivariate normal models for pedigree analysis
    • Hopper JL, Mathews JD (1982) Extensions to multivariate normal models for pedigree analysis. Ann Hum Genet 46(4):373-383
    • (1982) Ann Hum Genet , vol.46 , Issue.4 , pp. 373-383
    • Hopper, J.L.1    Mathews, J.D.2
  • 22
    • 0031540602 scopus 로고    scopus 로고
    • A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve
    • Huntington K, Hunter AG, Chan KL (1997) A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 30:1809-1812
    • (1997) J Am Coll Cardiol , vol.30 , pp. 1809-1812
    • Huntington, K.1    Hunter, A.G.2    Chan, K.L.3
  • 24
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES (1996) Parametric and nonparametric linkage analysis: A unified multipoint approach. Am J Hum Genet 58:1347-1363
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 25
    • 33745102721 scopus 로고    scopus 로고
    • Hearts and bones: Shared regulatory mechanisms in heart valve, cartilage, tendon, and bone development
    • Lincoln J, Lange AW, Yutzey KE (2006) Hearts and bones: Shared regulatory mechanisms in heart valve, cartilage, tendon, and bone development. Dev Biol 294:292-302
    • (2006) Dev Biol , vol.294 , pp. 292-302
    • Lincoln, J.1    Lange, A.W.2    Yutzey, K.E.3
  • 26
    • 0034145229 scopus 로고    scopus 로고
    • Aortic and pulmonary stenosis
    • Mack G, Silberbach M (2000) Aortic and pulmonary stenosis. Pediatr Rev 21:79-85
    • (2000) Pediatr Rev , vol.21 , pp. 79-85
    • Mack, G.1    Silberbach, M.2
  • 28
    • 0025752689 scopus 로고
    • Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve
    • Pachulski RT, Weinberg AL, Chan KL (1991) Aortic aneurysm in patients with functionally normal or minimally stenotic bicuspid aortic valve. Am J Cardiol 67:781-782
    • (1991) Am J Cardiol , vol.67 , pp. 781-782
    • Pachulski, R.T.1    Weinberg, A.L.2    Chan, K.L.3
  • 30
    • 0038213891 scopus 로고    scopus 로고
    • The epidemiology of cardiovascular defects, part I: A study based on data from three large registries of congenital malformations
    • Pradat P, Francannet C, Harris JA, Robert E (2003) The epidemiology of cardiovascular defects, part I: A study based on data from three large registries of congenital malformations. Pediatr Cardiol 24:195-221
    • (2003) Pediatr Cardiol , vol.24 , pp. 195-221
    • Pradat, P.1    Francannet, C.2    Harris, J.A.3    Robert, E.4
  • 32
    • 0014832506 scopus 로고
    • Anatomically isolated aortic valvular disease. The case against its being of rheumatic etiology
    • Roberts WC (1970a) Anatomically isolated aortic valvular disease. The case against its being of rheumatic etiology. Am J Med 49:151-159
    • (1970) Am J Med , vol.49 , pp. 151-159
    • Roberts, W.C.1
  • 33
    • 0014820336 scopus 로고
    • The congenitally bicuspid aortic valve. A study of 85 autopsy cases
    • Roberts WC (1970b) The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol 26:72-83
    • (1970) Am J Cardiol , vol.26 , pp. 72-83
    • Roberts, W.C.1
  • 34
    • 14044262240 scopus 로고    scopus 로고
    • Frequency by decades of unicuspid, bicuspid, and tricuspid aortic valves in adults having isolated aortic valve replacement for aortic stenosis, with or without associated aortic regurgitation
    • Roberts WC, Ko JM (2005) Frequency by decades of unicuspid, bicuspid, and tricuspid aortic valves in adults having isolated aortic valve replacement for aortic stenosis, with or without associated aortic regurgitation. Circulation 111:920-925
    • (2005) Circulation , vol.111 , pp. 920-925
    • Roberts, W.C.1    Ko, J.M.2
  • 35
    • 0034007483 scopus 로고    scopus 로고
    • Echocardiographic diagnosis of heart disease in apparently healthy adolescents
    • Steinberger J, Moller JH, Berry JM, Sinaiko AR (2000) Echocardiographic diagnosis of heart disease in apparently healthy adolescents. Pediatrics 105:815-818
    • (2000) Pediatrics , vol.105 , pp. 815-818
    • Steinberger, J.1    Moller, J.H.2    Berry, J.M.3    Sinaiko, A.R.4
  • 38
    • 0034030487 scopus 로고    scopus 로고
    • Clinical significance of the bicuspid aortic valve
    • Ward C (2000) Clinical significance of the bicuspid aortic valve. Heart 83:81-85
    • (2000) Heart , vol.83 , pp. 81-85
    • Ward, C.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.