메뉴 건너뛰기




Volumn 155, Issue 9, 2011, Pages 2196-2202

Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1

Author keywords

CGHarray; Deletion 8p23; Ebstein anomaly; Microdeletion 1p36

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 18Q; CHROMOSOME 1P; CHROMOSOME 8P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DISEASE ASSOCIATION; EBSTEIN ANOMALY; FEMALE; GATA4 GENE; GENE DELETION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC SCREENING; HUMAN; INFANT; MALE; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; MUTATOR GENE; NKX2.5 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 84860417458     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34131     Document Type: Article
Times cited : (36)

References (39)
  • 1
    • 33644857721 scopus 로고    scopus 로고
    • Delineation of a 2.2Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease
    • Baekvad-Hansen M, Tümer Z, Delicado A, Erdogan F, Tommerup N, Larsen LA. 2006. Delineation of a 2.2Mb microdeletion at 5q35 associated with microcephaly and congenital heart disease. Am J Med Genet 140A: 427-433.
    • (2006) Am J Med Genet , vol.140 A , pp. 427-433
    • Baekvad-Hansen, M.1    Tümer, Z.2    Delicado, A.3    Erdogan, F.4    Tommerup, N.5    Larsen, L.A.6
  • 2
    • 22244471387 scopus 로고    scopus 로고
    • Del 1p26 syndrome: A newly emerging clinical entity
    • Battaglia A. 2005. Del 1p26 syndrome: A newly emerging clinical entity. Brain Dev 27: 358-361.
    • (2005) Brain Dev , vol.27 , pp. 358-361
    • Battaglia, A.1
  • 4
    • 37249013889 scopus 로고    scopus 로고
    • Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication
    • Bernardini L, Castori M, Capalbo A, et al., 2007. Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication. Am J Med Genet Part A 143A: 2937-2943.
    • (2007) Am J Med Genet Part A , vol.143 , pp. 2937-2943
    • Bernardini, L.1    Castori, M.2    Capalbo, A.3
  • 5
    • 44449159866 scopus 로고    scopus 로고
    • Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-Myosin Heavy Chain Gene
    • Budde BS, Binner P, Waldmuller S, et al. 2007. Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-Myosin Heavy Chain Gene. PloS ONE 2: e1362.
    • (2007) PloS ONE , vol.2
    • Budde, B.S.1    Binner, P.2    Waldmuller, S.3
  • 7
    • 0028131140 scopus 로고
    • Ebstein's malformation of the tricuspid valve: Genetic and environmental factors. The Baltimore-Washington Infant Study Group
    • Correa-Villaseñor A, Ferencz C, Neill CA, Wilson PD, Boughman JA. 1994. Ebstein's malformation of the tricuspid valve: Genetic and environmental factors. The Baltimore-Washington Infant Study Group. Teratology 50: 137-147.
    • (1994) Teratology , vol.50 , pp. 137-147
    • Correa-Villaseñor, A.1    Ferencz, C.2    Neill, C.A.3    Wilson, P.D.4    Boughman, J.A.5
  • 12
    • 0030799792 scopus 로고    scopus 로고
    • The cardiac transcription factors Nkx 2-5 and GATA4 are mutual cofactors
    • Durocher D, Charron F, Warren R, Schwartz RJ, Nemer M. 1997. The cardiac transcription factors Nkx 2-5 and GATA4 are mutual cofactors. EMBO J 16: 5687-5696.
    • (1997) EMBO J , vol.16 , pp. 5687-5696
    • Durocher, D.1    Charron, F.2    Warren, R.3    Schwartz, R.J.4    Nemer, M.5
  • 18
    • 77954813132 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease
    • Guida V, Lepri F, Vijzelaar R, De Zorzi A, Versacci P, Digilio MC, Marino B, De Luca A, Dallapiccola B. 2010. Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease. Dis Markers 28: 287-292.
    • (2010) Dis Markers , vol.28 , pp. 287-292
    • Guida, V.1    Lepri, F.2    Vijzelaar, R.3    De Zorzi, A.4    Versacci, P.5    Digilio, M.C.6    Marino, B.7    De Luca, A.8    Dallapiccola, B.9
  • 20
    • 0026772983 scopus 로고
    • Distal 8p deletion (8p23.1-8pter): A common deletion?
    • Hutchinson R, Wilson M, Voullaire L. 1992. Distal 8p deletion (8p23.1-8pter): A common deletion? J Med Genet 29: 407-411.
    • (1992) J Med Genet , vol.29 , pp. 407-411
    • Hutchinson, R.1    Wilson, M.2    Voullaire, L.3
  • 21
    • 0031844382 scopus 로고    scopus 로고
    • The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression
    • Lee Y, Shioi T, Kasahara H, Jobe SM, Wiese RJ, Markham BE, Izumo S. 1998. The cardiac tissue-restricted homeobox protein Csx/Nkx2.5 physically associates with the zinc finger protein GATA4 and cooperatively activates atrial natriuretic factor gene expression. Mol Cell Biol 18: 3120-3129.
    • (1998) Mol Cell Biol , vol.18 , pp. 3120-3129
    • Lee, Y.1    Shioi, T.2    Kasahara, H.3    Jobe, S.M.4    Wiese, R.J.5    Markham, B.E.6    Izumo, S.7
  • 24
    • 0026601492 scopus 로고
    • Ebstein anomaly: Report of a familial occurrence and prenatal diagnosis
    • McIntosh N, Chitayat D, Bardanis M, Fouron JC. 1992. Ebstein anomaly: Report of a familial occurrence and prenatal diagnosis. Am J Med Genet 42: 307-309.
    • (1992) Am J Med Genet , vol.42 , pp. 307-309
    • McIntosh, N.1    Chitayat, D.2    Bardanis, M.3    Fouron, J.C.4
  • 25
    • 33645886074 scopus 로고    scopus 로고
    • Ebstein anomaly and duplication of the distal arm of chromosome 15: Report of two patients
    • Miller MS, Rao PN, Dudovitz RN, Falk RE. 2005. Ebstein anomaly and duplication of the distal arm of chromosome 15: Report of two patients. Am J Med Genet Part A 139A: 141-145.
    • (2005) Am J Med Genet Part A , vol.139 , pp. 141-145
    • Miller, M.S.1    Rao, P.N.2    Dudovitz, R.N.3    Falk, R.E.4
  • 26
    • 0033021505 scopus 로고    scopus 로고
    • Ebstein's anomaly associated with trisomy 9p
    • Nakagawa M, Kato H, Aotani H, Kondo M. 1999. Ebstein's anomaly associated with trisomy 9p. Clin Genet 55: 383-385.
    • (1999) Clin Genet , vol.55 , pp. 383-385
    • Nakagawa, M.1    Kato, H.2    Aotani, H.3    Kondo, M.4
  • 31
    • 0021874306 scopus 로고
    • Persistent atrial standstill in familial Ebstein's anomaly
    • Piérard LA, Henrard L, Demoulin JC. 1985. Persistent atrial standstill in familial Ebstein's anomaly. Heart 53: 594-597.
    • (1985) Heart , vol.53 , pp. 594-597
    • Piérard, L.A.1    Henrard, L.2    Demoulin, J.C.3
  • 32
    • 0033613986 scopus 로고    scopus 로고
    • Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
    • Riegel M, Castellan C, Balmer D, Brecevic L, Schinzel A. 1999. Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes. Am J Med Genet 82: 249-253.
    • (1999) Am J Med Genet , vol.82 , pp. 249-253
    • Riegel, M.1    Castellan, C.2    Balmer, D.3    Brecevic, L.4    Schinzel, A.5
  • 34
    • 0033062156 scopus 로고    scopus 로고
    • Prenatal diagnosis of Down's syndrome in the presence of isolated Ebstein's anomaly
    • Silva SR, Bruner JP, Moore CA. 1999. Prenatal diagnosis of Down's syndrome in the presence of isolated Ebstein's anomaly. Fetal Diagn Ther 14: 149-151.
    • (1999) Fetal Diagn Ther , vol.14 , pp. 149-151
    • Silva, S.R.1    Bruner, J.P.2    Moore, C.A.3
  • 35
    • 20744452383 scopus 로고    scopus 로고
    • Familial biventricular myocardial noncompaction associated with Ebstein's malformation
    • Sinkovec M, Kozelj M, Podnar T. 2005. Familial biventricular myocardial noncompaction associated with Ebstein's malformation. Int J Cardiol 102: 297-302.
    • (2005) Int J Cardiol , vol.102 , pp. 297-302
    • Sinkovec, M.1    Kozelj, M.2    Podnar, T.3
  • 38
    • 0029866263 scopus 로고    scopus 로고
    • Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation
    • Wu B-L, Schneider GH, Sabatino DE, Bozovic LZ, Cao B, Korf BR. 1996. Distal 8p deletion (8)(p23.1): An easily missed chromosomal abnormality that may be associated with congenital heart defect and mental retardation. Am J Med Genet 62: 77-83.
    • (1996) Am J Med Genet , vol.62 , pp. 77-83
    • Wu, B.-L.1    Schneider, G.H.2    Sabatino, D.E.3    Bozovic, L.Z.4    Cao, B.5    Korf, B.R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.