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Volumn 3, Issue 2, 1999, Pages 157-172

Advances in the molecular genetics of congenital structural heart disease

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA;

EID: 0032764442     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/gte.1999.3.157     Document Type: Review
Times cited : (6)

References (153)
  • 2
    • 0022381465 scopus 로고
    • Tetralogy of Fallot produced in chick embryos by mechanical interference with cardiogenesis
    • ARANEGA, A., EGEA, J., ALVAREZ, L., and ARTEGA, M. (1985). Tetralogy of Fallot produced in chick embryos by mechanical interference with cardiogenesis. Anat. Rec. 213, 560-565.
    • (1985) Anat. Rec. , vol.213 , pp. 560-565
    • Aranega, A.1    Egea, J.2    Alvarez, L.3    Artega, M.4
  • 3
    • 0020523606 scopus 로고
    • Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family
    • ARNOLD, G.L., BIXLER, D., and GIROD, D. (1983). Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family. Am. J. Med. Genet. 16, 35-42.
    • (1983) Am. J. Med. Genet. , vol.16 , pp. 35-42
    • Arnold, G.L.1    Bixler, D.2    Girod, D.3
  • 6
    • 0021886390 scopus 로고
    • Echocardiographic incidence of cardiac rhabdomyoma in Tuberous Sclerosis
    • BASS, J.L., BRENINGSTALL, G.N., and SWAIMAN, K.F. (1985). Echocardiographic incidence of cardiac rhabdomyoma in Tuberous Sclerosis. Am. J. Cardiol. 55, 1379-1382.
    • (1985) Am. J. Cardiol. , vol.55 , pp. 1379-1382
    • Bass, J.L.1    Breningstall, G.N.2    Swaiman, K.F.3
  • 9
    • 0030615260 scopus 로고    scopus 로고
    • Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex)
    • BASSON, C.T., MACRAE, C.A., KORF, B., and MERLISS, A. (1997b). Genetic heterogeneity of familial atrial myxoma syndromes (Carney complex). Am. J. Cardiol. 79, 994-995.
    • (1997) Am. J. Cardiol. , vol.79 , pp. 994-995
    • Basson, C.T.1    Macrae, C.A.2    Korf, B.3    Merliss, A.4
  • 10
    • 0028179671 scopus 로고
    • Odd-paired: A zinc finger pair-rule protein required for the timely activation of engrailed and wingless in Drosophila embryos
    • BENEDYK, M.J., MULLEN, J.R., and DINARDO, S. (1994). odd-paired: a zinc finger pair-rule protein required for the timely activation of engrailed and wingless in Drosophila embryos. Genes & Dev. 8, 105-117.
    • (1994) Genes & Dev. , vol.8 , pp. 105-117
    • Benedyk, M.J.1    Mullen, J.R.2    Dinardo, S.3
  • 11
    • 0029994247 scopus 로고    scopus 로고
    • New understandings in the genetics of congenital heart disease
    • BENSON, D.W., BASSON, C.T., and MAC RAE, C.A. (1996). New understandings in the genetics of congenital heart disease. Curr. Opin. Pediatr. 8, 505-511.
    • (1996) Curr. Opin. Pediatr. , vol.8 , pp. 505-511
    • Benson, D.W.1    Basson, C.T.2    Mac Rae, C.A.3
  • 13
    • 0014769440 scopus 로고
    • Familial atrial septal defect with prolonged atrioventricular conduction: A syndrome showing autosomal dominant pattern of inheritance
    • BIZARRO, R.O., CALLAHAN, J.A., FELDT, R.H., KURLAND, L.T., GORDON, H., and BRANDENBURG, R.O. (1970). Familial atrial septal defect with prolonged atrioventricular conduction: a syndrome showing autosomal dominant pattern of inheritance. Circulation 41, 677-684.
    • (1970) Circulation , vol.41 , pp. 677-684
    • Bizarro, R.O.1    Callahan, J.A.2    Feldt, R.H.3    Kurland, L.T.4    Gordon, H.5    Brandenburg, R.O.6
  • 14
    • 0028071386 scopus 로고
    • Familial total anomalous pulmonary venous return: A large Utah-Idaho family
    • BLEYL, S., RUTTENBERG, H.D., CAREY, J.C., and WARD, K. (1994). Familial total anomalous pulmonary venous return: a large Utah-Idaho family. Am. J. Med. Genet. 54, 462-466.
    • (1994) Am. J. Med. Genet. , vol.54 , pp. 462-466
    • Bleyl, S.1    Ruttenberg, H.D.2    Carey, J.C.3    Ward, K.4
  • 21
    • 0031877307 scopus 로고    scopus 로고
    • Counseling Families with Chromosome 22q11 Deletions: The Catch in CATCH-22
    • BRISTOW, J.D., and BERNSTEIN, H.S. (1998). Counseling Families With Chromosome 22q11 Deletions: the Catch in CATCH-22. J. Am. Coll. Cardiol. 32, 499-501.
    • (1998) J. Am. Coll. Cardiol. , vol.32 , pp. 499-501
    • Bristow, J.D.1    Bernstein, H.S.2
  • 22
    • 0029060788 scopus 로고
    • Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality
    • BRITZ-CUNNINGHAM, S.H., SHAH, M.M., ZUPPAN, C.W., and FLETCHER, W.H. (1995). Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N. Engl. J. Med. 332, 1323-1329.
    • (1995) N. Engl. J. Med. , vol.332 , pp. 1323-1329
    • Britz-Cunningham, S.H.1    Shah, M.M.2    Zuppan, C.W.3    Fletcher, W.H.4
  • 23
    • 0032231877 scopus 로고    scopus 로고
    • Comprehensive human genetic maps: Individual and sex-specific variation in recombination
    • BROMAN, K.W., MURRAY, J.C., SHEFFIELD, V.C., WHITE, R.L., and WEBER, J.L. (1998). Comprehensive human genetic maps: individual and sex-specific variation in recombination. Am. J. Hum. Genet. 63, 861-869.
    • (1998) Am. J. Hum. Genet. , vol.63 , pp. 861-869
    • Broman, K.W.1    Murray, J.C.2    Sheffield, V.C.3    White, R.L.4    Weber, J.L.5
  • 24
    • 0344450710 scopus 로고
    • Linkage mapping of a mouse gene, iv, that controls left-right asymmetry of the heart and viscera
    • BRUECKNER, M., D'EUSTACHIO, P., and HORWICH, A.L. (1989). Linkage mapping of a mouse gene, iv, that controls left-right asymmetry of the heart and viscera. Proc. Natl. Acad. Sci. USA 86, 5035-5038.
    • (1989) Proc. Natl. Acad. Sci. USA , vol.86 , pp. 5035-5038
    • Brueckner, M.1    D'Eustachio, P.2    Horwich, A.L.3
  • 25
    • 0021929851 scopus 로고
    • Differences between nonfamilial and familial cardiac myxoma
    • CARNEY, J.A. (1985). Differences between nonfamilial and familial cardiac myxoma. Am. J. Surg. Pathol. 9, 53-55.
    • (1985) Am. J. Surg. Pathol. , vol.9 , pp. 53-55
    • Carney, J.A.1
  • 26
    • 0022397926 scopus 로고
    • The complex of myxomas, spotty pigmentation, and endocrine overactivity
    • CARNEY, J.A., GORDON, H., CARPENTER, P.C., SHENOY, B.V., and GO, V.L. (1985). The complex of myxomas, spotty pigmentation, and endocrine overactivity. Medicine 64, 270-283.
    • (1985) Medicine , vol.64 , pp. 270-283
    • Carney, J.A.1    Gordon, H.2    Carpenter, P.C.3    Shenoy, B.V.4    Go, V.L.5
  • 27
    • 0027454207 scopus 로고
    • Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1
    • CASEY, B., DEVOTO, M., JONES, L.L., and BALLABIO, A. (1993). Mapping a gene for familial situs abnormalities to human chromosome Xq24-q27.1. Nature Genet. 5, 403-407.
    • (1993) Nature Genet. , vol.5 , pp. 403-407
    • Casey, B.1    Devoto, M.2    Jones, L.L.3    Ballabio, A.4
  • 31
    • 0018163665 scopus 로고
    • Peculiar facies with short philtrum, duck-bill lips, ptosis, and low-set ears - A new syndrome?
    • CHAR, F. (1978). Peculiar facies with short philtrum, duck-bill lips, ptosis, and low-set ears - a new syndrome? Birth Defects Orig. Art. Series 14, 303-305.
    • (1978) Birth Defects Orig. Art. Series , vol.14 , pp. 303-305
    • Char, F.1
  • 32
    • 0023788351 scopus 로고
    • Role of prenatal detection of cardiac tumours in the diagnosis of tuberous sclerosis-report of two cases
    • CHITAYAT, D., MCGIILLIVRAY, B.C., DIAMANT, S., WITTMAN, B.K., and SANDOR, G.G.S. (1988). Role of prenatal detection of cardiac tumours in the diagnosis of tuberous sclerosis-report of two cases. Prenatal Diagn. 8, 577-584.
    • (1988) Prenatal Diagn. , vol.8 , pp. 577-584
    • Chitayat, D.1    Mcgiillivray, B.C.2    Diamant, S.3    Wittman, B.K.4    Sandor, G.G.S.5
  • 33
    • 0029965973 scopus 로고    scopus 로고
    • Familial congenital Bicuspid Aortic Valve: A disorder of uncertain inheritance
    • CLEMENTI, M., NOTARI, L., BORGHI, A., and TENCONI, R. (1996). Familial congenital Bicuspid Aortic Valve: A disorder of uncertain inheritance. Am. J. Med. Genet. 62, 336-338.
    • (1996) Am. J. Med. Genet. , vol.62 , pp. 336-338
    • Clementi, M.1    Notari, L.2    Borghi, A.3    Tenconi, R.4
  • 34
    • 0029993646 scopus 로고    scopus 로고
    • Relationship between asymmemtric nodal expression and the direction of embryonic turning
    • COLLIGNON, J., VARLET, I., and ROBERTSON, E.J. (1996). Relationship between asymmemtric nodal expression and the direction of embryonic turning. Nature 381, 155-158.
    • (1996) Nature , vol.381 , pp. 155-158
    • Collignon, J.1    Varlet, I.2    Robertson, E.J.3
  • 37
    • 0027403375 scopus 로고
    • The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis
    • CURRAN, M.E., ATKINSON, D.L., EWART, A.K., MORRIS, C.A., LEPPERT, M.F., and KEATING, M.T. (1993). The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell 73, 159-168.
    • (1993) Cell , vol.73 , pp. 159-168
    • Curran, M.E.1    Atkinson, D.L.2    Ewart, A.K.3    Morris, C.A.4    Leppert, M.F.5    Keating, M.T.6
  • 41
    • 0019511103 scopus 로고
    • A deletion in chromosome 22 can cause DiGeorge syndrome
    • DE LA CHAPELLE, A., HERVA, R., KOIVISTO, M., and AULA, O. (1981). A deletion in chromosome 22 can cause DiGeorge syndrome. Hum. Genet. 57, 253-256.
    • (1981) Hum. Genet. , vol.57 , pp. 253-256
    • De La Chapelle, A.1    Herva, R.2    Koivisto, M.3    Aula, O.4
  • 43
    • 0020463491 scopus 로고
    • Inheritance of Mitral Valve Prolapse: Effect of age and sex on gene expression
    • DEVEREAUX, R.B., BROWN, T., KRAMER-FOX, R., and SACHS, I. (1982). Inheritance of Mitral Valve Prolapse: Effect of age and sex on gene expression. Ann. Int. Med. 97, 826-832.
    • (1982) Ann. Int. Med. , vol.97 , pp. 826-832
    • Devereaux, R.B.1    Brown, T.2    Kramer-Fox, R.3    Sachs, I.4
  • 46
    • 0027261517 scopus 로고
    • Four novel FBN1 mutations: Significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome
    • DIETZ, H.C., McINTOSH, I., SAKAI, L.Y., CORSON, G.M., CHALBERG, S.C., PYERITZ, R.E., and FRANCOMANO, C.A. (1993). Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome. Genomics 17, 468-475.
    • (1993) Genomics , vol.17 , pp. 468-475
    • Dietz, H.C.1    McIntosh, I.2    Sakai, L.Y.3    Corson, G.M.4    Chalberg, S.C.5    Pyeritz, R.E.6    Francomano, C.A.7
  • 50
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
    • DRISCOLL, D.A., SALVIN, J., SELLINGER, B., BUDARF, M.L., MCDONALD-MCGINN, D.M., ZACKAI, E.H., and EMANUEL, B.S. (1993). Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counseling and prenatal diagnosis. J. Med. Genet. 30, 813-817.
    • (1993) J. Med. Genet. , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3    Budarf, M.L.4    Mcdonald-Mcginn, D.M.5    Zackai, E.H.6    Emanuel, B.S.7
  • 51
    • 84906418947 scopus 로고
    • A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia, and congenital morbus cordis: Report of three cases
    • ELLIS, R.W.B., and VAN CREVELD, S. (1940). A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia, and congenital morbus cordis: Report of three cases. Arch. Dis. Child. 15, 65.
    • (1940) Arch. Dis. Child. , vol.15 , pp. 65
    • Ellis, R.W.B.1    Van Creveld, S.2
  • 53
    • 0018231603 scopus 로고
    • Congenitally bicuspid aortic valve. Clinicogenetic study of 41 families
    • EMANUEL, R., WITHERS, R., O'BRIEN, K., ROSS, P., and FEIZI, O. (1978). Congenitally bicuspid aortic valve. 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
  • 54
    • 0027231001 scopus 로고
    • Complications of the naevoid basal cell carcinoma syndrome: Results of a population based study
    • EVANS, D.G.R., LADUSANS, E.J., RIMMER, S., BURNELL, L.D., THAKKER, P.A., and FARNDON, P.A. (1993). Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J. Med. Genet. 30, 460-464.
    • (1993) J. Med. Genet. , vol.30 , pp. 460-464
    • Evans, D.G.R.1    Ladusans, E.J.2    Rimmer, S.3    Burnell, L.D.4    Thakker, P.A.5    Farndon, P.A.6
  • 59
    • 0029825134 scopus 로고    scopus 로고
    • Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy
    • GEBBIA, M., TOWBIN, J.A., and CASEY, B. (1996). Failure to detect connexin43 mutations in 38 cases of sporadic and familial heterotaxy. Circulation 94, 1909-1912.
    • (1996) Circulation , vol.94 , pp. 1909-1912
    • Gebbia, M.1    Towbin, J.A.2    Casey, B.3
  • 62
    • 0024321925 scopus 로고
    • Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum
    • GLESBY, M.J., and PYERITZ, R.E. (1989). Association of mitral valve prolapse and systemic abnormalities of connective tissue. A phenotypic continuum. J. Am. Med. Assn. 262, 523-528.
    • (1989) J. Am. Med. Assn. , vol.262 , pp. 523-528
    • Glesby, M.J.1    Pyeritz, R.E.2
  • 65
    • 85038162682 scopus 로고    scopus 로고
    • Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex)
    • in press
    • GOLDSTEIN, M., CASEY, M., CARNEY, J.A., and BASSON, C.T. Molecular genetic diagnosis of the familial myxoma syndrome (Carney complex). Am. J. Med. Genet. (in press).
    • Am. J. Med. Genet.
    • Goldstein, M.1    Casey, M.2    Carney, J.A.3    Basson, C.T.4
  • 66
    • 0031912717 scopus 로고    scopus 로고
    • Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype
    • GOTTLEIB, S., DRISCOLL, D.A., PUNNETT, H.H., SELLINGER, B., EMANUEL, B.S., and BUDARF, M.L. (1998). Characterization of 10p deletions suggests two nonoverlapping regions contribute to the DiGeorge syndrome phenotype. Am. J. Hum. Genet. 62, 495-498.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 495-498
    • Gottleib, S.1    Driscoll, D.A.2    Punnett, H.H.3    Sellinger, B.4    Emanuel, B.S.5    Budarf, M.L.6
  • 67
  • 69
    • 0025147135 scopus 로고
    • Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma
    • HARDING, C.O., and PAGON, R.A. (1990). Incidence of tuberous sclerosis in patients with cardiac rhabdomyoma. Am. J. Med. Genet. 37, 443-446.
    • (1990) Am. J. Med. Genet. , vol.37 , pp. 443-446
    • Harding, C.O.1    Pagon, R.A.2
  • 70
    • 0029967968 scopus 로고    scopus 로고
    • Expression of mRNAs for neurotrophins and their receptors in developing heart
    • HILTUNEN, J.O., ARUMAE, U., MOSHNYAKOV, M., and SAARMA, M. (1996). Expression of mRNAs for neurotrophins and their receptors in developing heart. Circ. Res. 79, 930-939.
    • (1996) Circ. Res. , vol.79 , pp. 930-939
    • Hiltunen, J.O.1    Arumae, U.2    Moshnyakov, M.3    Saarma, M.4
  • 71
    • 0025373428 scopus 로고
    • Congenital heart disease: Incidence and inheritance
    • HOFFMAN, J.I.E. (1990). Congenital heart disease: incidence and inheritance. Pediatr. Clin. N. Am. 37, 25-43.
    • (1990) Pediatr. Clin. N. Am. , vol.37 , pp. 25-43
    • Hoffman, J.I.E.1
  • 73
    • 0025335330 scopus 로고
    • Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome
    • HOLLISTER, D.W., GODFERY, M., SAKAI L.Y., and PYERITZ, R.E. (1990). Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N. Engl. J. Med. 323, 152-159.
    • (1990) N. Engl. J. Med. , vol.323 , pp. 152-159
    • Hollister, D.W.1    Godfery, M.2    Sakai, L.Y.3    Pyeritz, R.E.4
  • 74
    • 0000846120 scopus 로고
    • Familial heart disease with skeletal malformations
    • HOLT, M., and ORAM, S. (1960). Familial heart disease with skeletal malformations. Br. Heart. J. 22, 236-242.
    • (1960) Br. Heart. J. , vol.22 , pp. 236-242
    • Holt, M.1    Oram, S.2
  • 75
    • 0031540602 scopus 로고    scopus 로고
    • A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve
    • HUNTINGTON, K., HUNTER, A.G.W., and CHAN, K.-L. (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.W.2    Chan, K.-L.3
  • 76
    • 0029853350 scopus 로고    scopus 로고
    • Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish
    • IDE, S.E., ORTIZ DE LUNA, R.I., FRANCOMANO, C.A., and POLYMEROPOULOS, M.H. (1996). Exclusion of the MSX1 homeobox gene as the gene for the Ellis van Creveld syndrome in the Amish. Hum. Genet. 98, 572-575.
    • (1996) Hum. Genet. , vol.98 , pp. 572-575
    • Ide, S.E.1    Ortiz De Luna, R.I.2    Francomano, C.A.3    Polymeropoulos, M.H.4
  • 78
    • 0022608118 scopus 로고
    • The Gorlin syndrome: A genetically determined disorder associated with cardiac tumor
    • JONES, K.L., WOLF, P.L., JENSEN, P., DITTRICH, H., BENIRSCHKE, K., and BLOOR, C. (1986). The Gorlin syndrome: a genetically determined disorder associated with cardiac tumor. Am. Heart. J. 111, 1013-1015.
    • (1986) Am. Heart. J. , vol.111 , pp. 1013-1015
    • Jones, K.L.1    Wolf, P.L.2    Jensen, P.3    Dittrich, H.4    Benirschke, K.5    Bloor, C.6
  • 79
    • 0022542111 scopus 로고
    • Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound
    • JOURNEL, H., ROUSSEY, M., PLAIS, M.H., MILON, J., ALMANGE, C., and LE MAREC, B. (1986). Prenatal diagnosis of familial tuberous sclerosis following detection of cardiac rhabdomyoma by ultrasound. Prenatal Diagn. 6, 283-289.
    • (1986) Prenatal Diagn. , vol.6 , pp. 283-289
    • Journel, H.1    Roussey, M.2    Plais, M.H.3    Milon, J.4    Almange, C.5    Le Marec, B.6
  • 81
    • 0027282961 scopus 로고
    • The Brachyury gene encodes a novel DNA binding protein
    • KISPERT, A., and HERRMAN, B.G. (1993). The Brachyury gene encodes a novel DNA binding protein. EMBO J. 12, 3211-3220.
    • (1993) EMBO J. , vol.12 , pp. 3211-3220
    • Kispert, A.1    Herrman, B.G.2
  • 84
    • 0031778069 scopus 로고    scopus 로고
    • Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families
    • KRANTZ, I.D., COLLITON, R.P., GENIN, A., RAND, E.B., LI, L., PICCOLI, D.A., and SPINNER, N.B. (1998). Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am. J. Hum. Genet. 62, 1361-1369.
    • (1998) Am. J. Hum. Genet. , vol.62 , pp. 1361-1369
    • Krantz, I.D.1    Colliton, R.P.2    Genin, A.3    Rand, E.B.4    Li, L.5    Piccoli, D.A.6    Spinner, N.B.7
  • 86
    • 0025944524 scopus 로고
    • TrkC, a new member of the trk family of tyrosine kinases, is a receptor for neurotrophin-3
    • LAMBALLE, F., TAPLEY, P., and BARBACID, M. (1991). TrkC, a new member of the trk family of tyrosine kinases, is a receptor for neurotrophin-3. Cell 66, 967-979.
    • (1991) Cell , vol.66 , pp. 967-979
    • Lamballe, F.1    Tapley, P.2    Barbacid, M.3
  • 92
    • 0029090829 scopus 로고
    • Myogenic and morphogenic defects in the heart tubes of murine embryos lacking the homeobox gene Nkx2-5
    • LYONS, I., PARSONS, L.M., HARTLEY, L., LI, R., ANDREWS, J.E., ROBB, L., and HARVEY, R.P. (1995). Myogenic and morphogenic defects in the heart tubes of murine embryos lacking the homeobox gene Nkx2-5. Genes & Dev. 9, 1654-1666.
    • (1995) Genes & Dev. , vol.9 , pp. 1654-1666
    • Lyons, I.1    Parsons, L.M.2    Hartley, L.3    Li, R.4    Andrews, J.E.5    Robb, L.6    Harvey, R.P.7
  • 93
  • 94
    • 0025998533 scopus 로고
    • A receptor tyrosine kinase cDNA isolated from a population of enriched primitive hematopoietic cells and exhibiting close genetic linkage to c-kit
    • MATHEWS, W., JORDAN, C.T., GAVIN, M., JENKINS, N.A., COPELAND, N.G., and LEMISHCHKA, I.R. (1991). A receptor tyrosine kinase cDNA isolated from a population of enriched primitive hematopoietic cells and exhibiting close genetic linkage to c-kit. Proc. Natl. Acad. Sci. USA 88, 9026-9030.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 9026-9030
    • Mathews, W.1    Jordan, C.T.2    Gavin, M.3    Jenkins, N.A.4    Copeland, N.G.5    Lemishchka, I.R.6
  • 96
    • 0028095316 scopus 로고
    • Molecular cloning of the cDNA for human TrkC (NTRK3), chromosomal assignment, and evidence for a splice variant
    • McGREGOR, L.M., BAYLIN, S.B., GRIFFIN, C.A., HAWKINS, A.L., and NELKIN, B.D. (1994). Molecular cloning of the cDNA for human TrkC (NTRK3), chromosomal assignment, and evidence for a splice variant. Genomics 22, 267-272.
    • (1994) Genomics , vol.22 , pp. 267-272
    • McGregor, L.M.1    Baylin, S.B.2    Griffin, C.A.3    Hawkins, A.L.4    Nelkin, B.D.5
  • 98
    • 0029932564 scopus 로고    scopus 로고
    • Left-right asymmetric expression of the TGFβ-family member lefty in mouse embryos
    • MENO, C., SAIJOH, Y., FUJII, H., IKEDA, M., YOKOYAMA, T., YOKOYAMA, M., TOYODA, Y., and HAMADA, H. (1996). Left-right asymmetric expression of the TGFβ-family member lefty in mouse embryos. Nature 381, 151-155.
    • (1996) Nature , vol.381 , pp. 151-155
    • Meno, C.1    Saijoh, Y.2    Fujii, H.3    Ikeda, M.4    Yokoyama, T.5    Yokoyama, M.6    Toyoda, Y.7    Hamada, H.8
  • 99
    • 0014145834 scopus 로고
    • Congenital cardiac disease associated with polysplenia. A developmental complex of bilateral "left-sidedness"
    • MOLLER, J.H., NAKIB, A., ANDERSON, R.C., and EDWARDS, J.E. (1967). Congenital cardiac disease associated with polysplenia. A developmental complex of bilateral "left-sidedness." Circulation 36, 789-799.
    • (1967) Circulation , vol.36 , pp. 789-799
    • Moller, J.H.1    Nakib, A.2    Anderson, R.C.3    Edwards, J.E.4
  • 100
    • 0014515851 scopus 로고
    • Possible X-linked congenital heart disease
    • MONTELEONE, P.L., and FAGAN, L.F. (1969). Possible X-linked congenital heart disease. Circulation 39, 611-614.
    • (1969) Circulation , vol.39 , pp. 611-614
    • Monteleone, P.L.1    Fagan, L.F.2
  • 103
    • 0028905182 scopus 로고
    • Deletions of the elastin gene at 7q11.23 occur in ∼90% of patients with Williams syndrome
    • NICKERSON, E., GREENBERG, F., KEATING, M.T., McCASKILL, C., and SHAFFER, L.G. (1995). Deletions of the elastin gene at 7q11.23 occur in ∼90% of patients with Williams syndrome. Am. J. Hum. Genet. 56, 1156-1161.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 1156-1161
    • Nickerson, E.1    Greenberg, F.2    Keating, M.T.3    McCaskill, C.4    Shaffer, L.G.5
  • 106
    • 85038162253 scopus 로고    scopus 로고
    • ™). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). World Wide Web URL
    • ™). (1997). Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD). World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/
    • (1997)
  • 107
    • 0020510344 scopus 로고
    • Chemically induced congenital thymic dysgenesis in the rat: A model of the DiGeorge syndrome
    • OSTER, G., KILBURN, K.H., and SIEGAL, F.P. (1983). Chemically induced congenital thymic dysgenesis in the rat: a model of the DiGeorge syndrome. Clin. Immunol. Immunopathol. 28, 128-134.
    • (1983) Clin. Immunol. Immunopathol. , vol.28 , pp. 128-134
    • Oster, G.1    Kilburn, K.H.2    Siegal, F.P.3
  • 109
    • 0021874306 scopus 로고
    • Persistent atrial standstill in familial Ebstein's anomaly
    • PIERARD, L.A., HENRARD, L., and DEMOULIN, J.-C. (1985). Persistent atrial standstill in familial Ebstein's anomaly. Br. Heart. J. 53, 594-597.
    • (1985) Br. Heart. J. , vol.53 , pp. 594-597
    • Pierard, L.A.1    Henrard, L.2    Demoulin, J.-C.3
  • 111
    • 0027249239 scopus 로고
    • Fetal liver kinase 1 is a receptor for vascular endothelial growth factor and is selectively expressed in vascular endothelium
    • QUINN, T.P., PETERS, K.G., DE VRIES, C., FERRARA, N., and WILLIAMS, L.T. (1993). Fetal liver kinase 1 is a receptor for vascular endothelial growth factor and is selectively expressed in vascular endothelium. Proc. Natl. Acad. Sci. USA 90, 7533-7537.
    • (1993) Proc. Natl. Acad. Sci. USA , vol.90 , pp. 7533-7537
    • Quinn, T.P.1    Peters, K.G.2    De Vries, C.3    Ferrara, N.4    Williams, L.T.5
  • 112
    • 0025880517 scopus 로고
    • Father and two children with total anomalous pulmonary venous connection
    • RAISHER, B.D., DOWTON, S.B., and GRANT, J.W. (1991). Father and two children with total anomalous pulmonary venous connection. Am. J. Med. Genet. 40, 105-106.
    • (1991) Am. J. Med. Genet. , vol.40 , pp. 105-106
    • Raisher, B.D.1    Dowton, S.B.2    Grant, J.W.3
  • 113
    • 0028787575 scopus 로고
    • Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12
    • RAND, E.B., SPINNER, N.B., PICCOLI, D.A., WHITINGTON, P.F., and TAUB, R. (1995). Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille region within 20p12. Am. J. Hum. Genet. 57, 1068-1073.
    • (1995) Am. J. Hum. Genet. , vol.57 , pp. 1068-1073
    • Rand, E.B.1    Spinner, N.B.2    Piccoli, D.A.3    Whitington, P.F.4    Taub, R.5
  • 116
    • 0029643775 scopus 로고
    • Cardiac myxomas
    • REYNEN, K. (1995). Cardiac myxomas. N. Engl. J. Med. 333, 1610-1617.
    • (1995) N. Engl. J. Med. , vol.333 , pp. 1610-1617
    • Reynen, K.1
  • 117
    • 0014820336 scopus 로고
    • The congenitally bicuspid aortic valve: A study of 85 autopsy cases
    • ROBERTS, W.C. (1970). 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
  • 120
    • 0029859938 scopus 로고    scopus 로고
    • Turner's Syndrome
    • SAENGER, P. (1996). Turner's Syndrome. N. Engl. J. Med. 335, 1749-1754.
    • (1996) N. Engl. J. Med. , vol.335 , pp. 1749-1754
    • Saenger, P.1
  • 121
    • 85038166386 scopus 로고    scopus 로고
    • A novel syndrome of peripheral pulmonary artery stenosis and lymphedema maps to chromosome Xp11
    • SANGWATANAROJ, S., SOLOMON, S.D., SEIDMAN, J.G., and SEIDMAN, C.E. (1997). A novel syndrome of peripheral pulmonary artery stenosis and lymphedema maps to chromosome Xp11. Circulation 96, A3435 (Suppl.).
    • (1997) Circulation , vol.96 , Issue.SUPPL.
    • Sangwatanaroj, S.1    Solomon, S.D.2    Seidman, J.G.3    Seidman, C.E.4
  • 122
    • 0033564061 scopus 로고    scopus 로고
    • Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-21
    • SATODA, M., PIERPONT, M.E.M., DIAZ, G.A., BORNEMEIER, R.A., and GELB, B.D. (1999). Char syndrome, an inherited disorder with patent ductus arteriosus, maps to chromosome 6p12-21. Circulation 99, 3036-3042.
    • (1999) Circulation , vol.99 , pp. 3036-3042
    • Satoda, M.1    Pierpont, M.E.M.2    Diaz, G.A.3    Bornemeier, R.A.4    Gelb, B.D.5
  • 124
    • 0022552878 scopus 로고
    • Primary cardiac tumor in and 18-year-old man: Manifestations of a familial cancer syndrome
    • SCHREIBER, C.S., BECKER, R.H., KING, B.D., LEVY, J.A., REED, G.E., and HERMAN, M.V. (1986). Primary cardiac tumor in and 18-year-old man: manifestations of a familial cancer syndrome. NY State J. Med. 86, 197-198.
    • (1986) NY State J. Med. , vol.86 , pp. 197-198
    • Schreiber, C.S.1    Becker, R.H.2    King, B.D.3    Levy, J.A.4    Reed, G.E.5    Herman, M.V.6
  • 126
    • 0023742654 scopus 로고
    • Cardiac tumour in a neonate with tuberous sclerosis: Echocardiographic demonstration and magnetic resonance imaging
    • SHIRAISHI, H., YANAGISAWA, M., KURUMATSU, T., SHIMOIZUMI, H., and TANAKA, O. (1988). Cardiac tumour in a neonate with tuberous sclerosis: echocardiographic demonstration and magnetic resonance imaging. Eur. J. Pediatr. 148, 50-52.
    • (1988) Eur. J. Pediatr. , vol.148 , pp. 50-52
    • Shiraishi, H.1    Yanagisawa, M.2    Kurumatsu, T.3    Shimoizumi, H.4    Tanaka, O.5
  • 127
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: Velocardiofacial syndrome
    • SHPRINTZEN, R.J., GOLDBERG, R.B., LEWIN, M.L., SIDOTI, E.J., BERKMAN, M.D., ARGAMASO, R.V., and YOUNG, D. (1978). A new syndrome involving cleft palate, cardiac anomalies, typical facies and learning disabilities: velocardiofacial syndrome. Cleft. Palate. J. 15, 56-62.
    • (1978) Cleft. Palate. J. , vol.15 , pp. 56-62
    • Shprintzen, R.J.1    Goldberg, R.B.2    Lewin, M.L.3    Sidoti, E.J.4    Berkman, M.D.5    Argamaso, R.V.6    Young, D.7
  • 128
    • 0029004022 scopus 로고
    • Familial occurrence of patent ductus arteriosus
    • SLETTEN, J., and PIERPONT, M.E. (1995). Familial occurrence of patent ductus arteriosus. Am. J. Med. Genet. 57, 27-30.
    • (1995) Am. J. Med. Genet. , vol.57 , pp. 27-30
    • Sletten, J.1    Pierpont, M.E.2
  • 129
    • 0024578705 scopus 로고
    • Cardiac rhabdomyomata in tuberous sclerosis: Their course and diagnostic value
    • SMITH, H.C., WATSON, G.H., PATEL, R.G., and SUPER, M. (1989). Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value. Arch. Dis. Childhood 64, 196-200.
    • (1989) Arch. Dis. Childhood , vol.64 , pp. 196-200
    • Smith, H.C.1    Watson, G.H.2    Patel, R.G.3    Super, M.4
  • 130
    • 0028128735 scopus 로고
    • Cytologically balanced t(2;20) in a two generation family with Alagille syndrome: Cytogenetic and molecular studies
    • SPINNER, N.B., RAND, E.B., FORTINA, P., GENIN, A., TAUB, R., SEMERARO, A., and PICCOLI, D.A. (1994). Cytologically balanced t(2;20) in a two generation family with Alagille syndrome: cytogenetic and molecular studies. Am. J. Hum. Genet. 55, 238-243.
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 238-243
    • Spinner, N.B.1    Rand, E.B.2    Fortina, P.3    Genin, A.4    Taub, R.5    Semeraro, A.6    Piccoli, D.A.7
  • 131
    • 0028001294 scopus 로고
    • A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFA-KIT-KDR) in chromosome segment 4q12
    • SPRITZ, R.A., STRUNK, K.M., LU-KUO, J.M., WARD, D.C., LE PASLIER, D., ALTHERR, M.R., DORMAN, T.E., and MOIR, D.T. (1994). A YAC contig spanning a cluster of human type III receptor protein tyrosine kinase genes (PDGFA-KIT-KDR) in chromosome segment 4q12. Genomics 22, 431-436.
    • (1994) Genomics , vol.22 , pp. 431-436
    • Spritz, R.A.1    Strunk, K.M.2    Lu-Kuo, J.M.3    Ward, D.C.4    Le Paslier, D.5    Altherr, M.R.6    Dorman, T.E.7    Moir, D.T.8
  • 132
    • 0030692095 scopus 로고    scopus 로고
    • Left, right . . . which way to turn?
    • SRIVASTAVA, D. (1997). Left, right . . . which way to turn? Nature Genet. 17, 252-254.
    • (1997) Nature Genet. , vol.17 , pp. 252-254
    • Srivastava, D.1
  • 133
    • 0030903857 scopus 로고    scopus 로고
    • Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND
    • SRIVASTAVA, D., THOMAS, T., LIN, Q., KIRBY, M.L., BROWN, D., and OLSON, E.N. (1997). Regulation of cardiac mesodermal and neural crest development by the bHLH transcription factor, dHAND. Nature Genet. 16, 154-160.
    • (1997) Nature Genet. , vol.16 , pp. 154-160
    • Srivastava, D.1    Thomas, T.2    Lin, Q.3    Kirby, M.L.4    Brown, D.5    Olson, E.N.6
  • 134
    • 0030049026 scopus 로고    scopus 로고
    • Carney complex, a familial multiple neoplasia and lentiginosis syndrome: Analysis of 11 kindreds and linkage to the short arm of chromosome 2
    • STRATAKIS, C.A., CARNEY, J.A., LIN, J.P., PAPANICOLAOU, D.A., KARL, M., KASTNER, D.L., PRAS, E., and CHROUSOS, G.P. (1996). Carney complex, a familial multiple neoplasia and lentiginosis syndrome: analysis of 11 kindreds and linkage to the short arm of chromosome 2. J. Clin. Invest. 97, 699-705.
    • (1996) J. Clin. Invest. , vol.97 , pp. 699-705
    • Stratakis, C.A.1    Carney, J.A.2    Lin, J.P.3    Papanicolaou, D.A.4    Karl, M.5    Kastner, D.L.6    Pras, E.7    Chrousos, G.P.8
  • 135
    • 0030656618 scopus 로고    scopus 로고
    • Mutation of axonemal dynein affects left-right asymmetry in inversus viscerum mice
    • SUPP, D.M., WITTE, D.P., POTTER, S.S., and BRUECKNER, M. (1997). Mutation of axonemal dynein affects left-right asymmetry in inversus viscerum mice. Nature 389, 963-966.
    • (1997) Nature , vol.389 , pp. 963-966
    • Supp, D.M.1    Witte, D.P.2    Potter, S.S.3    Brueckner, M.4
  • 136
    • 0028843726 scopus 로고
    • Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations
    • TAKAHASHI, K., KIDO, S., HOSHINO, K., OGAWA, K., OHASHI, H., and FUKUSHIMA, Y. (1995). Frequency of a 22q11 deletion in patients with conotruncal cardiac malformations. Eur. J. Pediatr. 154, 878-881.
    • (1995) Eur. J. Pediatr. , vol.154 , pp. 878-881
    • Takahashi, K.1    Kido, S.2    Hoshino, K.3    Ogawa, K.4    Ohashi, H.5    Fukushima, Y.6
  • 137
    • 0027363277 scopus 로고
    • Tandem duplication within a Neurofibromatosis Type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome
    • TASSABEHJI, M., STRACHAN, T., SHARLAND, M., COLLEY, A., DONNAI, D., HARRIS, R., and THAKKER, N. (1993). Tandem duplication within a Neurofibromatosis Type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am. J. Hum. Genet. 53, 90-95.
    • (1993) Am. J. Hum. Genet. , vol.53 , pp. 90-95
    • Tassabehji, M.1    Strachan, T.2    Sharland, M.3    Colley, A.4    Donnai, D.5    Harris, R.6    Thakker, N.7
  • 140
    • 0027161953 scopus 로고
    • TrkC, a receptor for neurotrophin-3, is widely expressed in the developing nervous systgem and in non-neuronal tissues
    • TESSAROLLO, L., TSOULFAS, P., MARTIN-ZANCA, D., GILBERT, D.J., JENKIN, N.A., COPELAND, N.G., and PARADA, L.F. (1993). TrkC, a receptor for neurotrophin-3, is widely expressed in the developing nervous systgem and in non-neuronal tissues. Development 118, 463-475.
    • (1993) Development , vol.118 , pp. 463-475
    • Tessarollo, L.1    Tsoulfas, P.2    Martin-Zanca, D.3    Gilbert, D.J.4    Jenkin, N.A.5    Copeland, N.G.6    Parada, L.F.7
  • 141
    • 0031449135 scopus 로고    scopus 로고
    • Targeted deletion of all isoforms of the trkC gene suggests the use of alternative receptors by its ligand neurotrophin-3 in neuronal development and implicates trkC in normal cardiogenesis
    • TESSAROLLO, L., TSOULFAS, P., DONOVAN, M.J., PALKO, M.E., BLAIR-FLYNN, J., HEMPSTEAD, B.L., and PARADA, L.F. (1997). Targeted deletion of all isoforms of the trkC gene suggests the use of alternative receptors by its ligand neurotrophin-3 in neuronal development and implicates trkC in normal cardiogenesis. Proc. Natl. Acad. Sci. USA 94, 14776-14781.
    • (1997) Proc. Natl. Acad. Sci. USA , vol.94 , pp. 14776-14781
    • Tessarollo, L.1    Tsoulfas, P.2    Donovan, M.J.3    Palko, M.E.4    Blair-Flynn, J.5    Hempstead, B.L.6    Parada, L.F.7
  • 142
    • 0032523101 scopus 로고    scopus 로고
    • The bHLH factors, dHand and eHAND, specify pulmonary and systemic cardiac ventricles independent of left-right sidedness
    • THOMAS, T., YAMAGISHI, H., OVERBEEK, P.A., OLSON, E.N., and SRIVASTAVA, D. (1998). The bHLH factors, dHAND and eHAND, specify pulmonary and systemic cardiac ventricles independent of left-right sidedness. Dev. Biol. 196, 228-236.
    • (1998) Dev. Biol. , vol.196 , pp. 228-236
    • Thomas, T.1    Yamagishi, H.2    Overbeek, P.A.3    Olson, E.N.4    Srivastava, D.5
  • 143
    • 0031974001 scopus 로고    scopus 로고
    • Connexin 43 gene mutations and heterotaxy
    • TOTH, T., HAJDU, J., MARTON, T., NAGY, B., and PAPP, Z. (1998). Connexin 43 gene mutations and heterotaxy. Circulation 97, 117-118.
    • (1998) Circulation , vol.97 , pp. 117-118
    • Toth, T.1    Hajdu, J.2    Marton, T.3    Nagy, B.4    Papp, Z.5
  • 145
    • 0344468294 scopus 로고
    • Embryology of the atrioventricular canal region and pathogenesis of endocardial cushion defects
    • R.H. Feldt, (ed.). (W.B. Saunders, Philadelphia)
    • VAN MIEROP, L.H.S. (1976). Embryology of the atrioventricular canal region and pathogenesis of endocardial cushion defects. In Atrioventricular Canal Defects. R.H. Feldt, (ed.). (W.B. Saunders, Philadelphia) pp. 1-12.
    • (1976) Atrioventricular Canal Defects , pp. 1-12
    • Van Mierop, L.H.S.1
  • 146
    • 0030017452 scopus 로고    scopus 로고
    • A human MSX1 homeodomain missense mutation causes selective tooth agenesis
    • VASTARDIS, H., KARIMBUX, N., GUTHUA, S.W., SEIDMAN, J.G., and SEIDMAN, C.E. (1996). A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nature Genet. 13, 417-421.
    • (1996) Nature Genet. , vol.13 , pp. 417-421
    • Vastardis, H.1    Karimbux, N.2    Guthua, S.W.3    Seidman, J.G.4    Seidman, C.E.5
  • 147
    • 0014094718 scopus 로고
    • Pulmonary stensosi, café au lait spots, and dull intelligence
    • WATSON, G.H. (1967). Pulmonary stensosi, café au lait spots, and dull intelligence. Arch. Dis. Child. 42, 303-307.
    • (1967) Arch. Dis. Child. , vol.42 , pp. 303-307
    • Watson, G.H.1
  • 148
    • 0026718754 scopus 로고
    • Echocardiography and genetic counseling in tuberous sclerosis
    • WEBB, D.W., THOMAS, R.D., and OSBORNE, J.P. (1992). Echocardiography and genetic counseling in tuberous sclerosis. J. Med. Genet. 29, 487-489.
    • (1992) J. Med. Genet. , vol.29 , pp. 487-489
    • Webb, D.W.1    Thomas, R.D.2    Osborne, J.P.3
  • 151
    • 0024584407 scopus 로고
    • Genetic segregation analysis of familial mitral valve prolapse shows no linkage to fibrillar collagen genes
    • WORDSWORTH, P., OGILVIE, D., AKHRAS, F., JACKSON, G., and SYKES, B. (1989). Genetic segregation analysis of familial mitral valve prolapse shows no linkage to fibrillar collagen genes. Br. Heart. J. 61, 300-306.
    • (1989) Br. Heart. J. , vol.61 , pp. 300-306
    • Wordsworth, P.1    Ogilvie, D.2    Akhras, F.3    Jackson, G.4    Sykes, B.5
  • 152
    • 0033582626 scopus 로고
    • A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
    • YAMAGISHI, H., GARG, V., MATSUOKA, R., THOMAS, T., and SRIVASTAVA, D. (1989). A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects. Science 283, 1158-1160.
    • (1989) Science , vol.283 , pp. 1158-1160
    • Yamagishi, H.1    Garg, V.2    Matsuoka, R.3    Thomas, T.4    Srivastava, D.5


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