메뉴 건너뛰기




Volumn 126, Issue 1, 2008, Pages e4-

Axenfeld-Rieger syndrome and pseudotruncus arteriosus

Author keywords

Axenfeld Rieger syndrome; Pseudotruncus arteriosus

Indexed keywords

ADOLESCENT; AORTOGRAPHY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AXENFELD RIEGER SYNDROME; CARDIOMEGALY; CARDIOVASCULAR DISEASE; CASE REPORT; DISEASE ASSOCIATION; ELECTROCARDIOGRAPHY; EYE MALFORMATION; HEART MURMUR; HEART VENTRICULOGRAPHY; HUMAN; MALE; PRIORITY JOURNAL; PSEUDOTRUNCUS ARTERIOSUS; SYNDROME;

EID: 41949086113     PISSN: 01675273     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijcard.2006.12.086     Document Type: Article
Times cited : (3)

References (13)
  • 1
    • 0034800986 scopus 로고    scopus 로고
    • A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome
    • Suzuki T., Takahashi K., Kuwahara S., Wada Y., Abe T., and Tamai M. A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome. Am J Ophthalmol 132 (2001) 572-575
    • (2001) Am J Ophthalmol , vol.132 , pp. 572-575
    • Suzuki, T.1    Takahashi, K.2    Kuwahara, S.3    Wada, Y.4    Abe, T.5    Tamai, M.6
  • 2
    • 6844251598 scopus 로고    scopus 로고
    • Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome
    • Cunningham Jr. E.T., Eliott D., Miller N.R., Maumenee I.H., and Green W.R. Familial Axenfeld-Rieger anomaly, atrial septal defect, and sensorineural hearing loss: a possible new genetic syndrome. Arch Ophthalmol Jan 116 (1998) 78-82
    • (1998) Arch Ophthalmol Jan , vol.116 , pp. 78-82
    • Cunningham Jr., E.T.1    Eliott, D.2    Miller, N.R.3    Maumenee, I.H.4    Green, W.R.5
  • 3
    • 0031820201 scopus 로고    scopus 로고
    • Cardiovascular anomaly in Rieger syndrome: heterogeneity or contiguity?
    • Mammi I., De Giorgio P., Clementi M., and Tenconi R. Cardiovascular anomaly in Rieger syndrome: heterogeneity or contiguity?. Acta Ophthalmol Scand 76 (1998) 509-512
    • (1998) Acta Ophthalmol Scand , vol.76 , pp. 509-512
    • Mammi, I.1    De Giorgio, P.2    Clementi, M.3    Tenconi, R.4
  • 4
    • 0037158479 scopus 로고    scopus 로고
    • Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?
    • Grosso S., Farnetani M.A., Berardi R., Vivarelli R., Vanni M., Morgese G., and Balestri. Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?. Am J Med Genet 111 (2002) 182-186
    • (2002) Am J Med Genet , vol.111 , pp. 182-186
    • Grosso, S.1    Farnetani, M.A.2    Berardi, R.3    Vivarelli, R.4    Vanni, M.5    Morgese, G.6    Balestri7
  • 5
    • 4243807172 scopus 로고    scopus 로고
    • Identification of a fourth Rieger syndrome locus at 16q24
    • Nishimura D., Searby C., Borges A., et al. Identification of a fourth Rieger syndrome locus at 16q24. Am J Hum Genet 67 Suppl 2 A (2000) 2146
    • (2000) Am J Hum Genet , vol.67 , Issue.SUPPL. 2 A , pp. 2146
    • Nishimura, D.1    Searby, C.2    Borges, A.3
  • 6
    • 10544233785 scopus 로고    scopus 로고
    • Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome
    • Semina E.V., Reiter R., Leysens N.J., et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 14 (1996) 392-399
    • (1996) Nat Genet , vol.14 , pp. 392-399
    • Semina, E.V.1    Reiter, R.2    Leysens, N.J.3
  • 8
    • 0024786883 scopus 로고
    • The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature
    • Brooks J.K., Coccaro P.J.J., and Zarbin M.A. The Rieger anomaly concomitant with multiple dental, craniofacial, and somatic midline anomalies and short stature. Oral Surg Oral Med Oral Path 68 (1989) 717-724
    • (1989) Oral Surg Oral Med Oral Path , vol.68 , pp. 717-724
    • Brooks, J.K.1    Coccaro, P.J.J.2    Zarbin, M.A.3
  • 10
    • 0022395281 scopus 로고
    • Umbilical dysmorphology: the importance of contemplating the belly button
    • Friedman J.M. Umbilical dysmorphology: the importance of contemplating the belly button. Clin Genet 28 (1985) 343-347
    • (1985) Clin Genet , vol.28 , pp. 343-347
    • Friedman, J.M.1
  • 11
    • 0020640517 scopus 로고
    • Neural crest cells contribute to normal aorticopulmonary septation
    • Kirby M.L., Gale T.F., and Stewart D.E. Neural crest cells contribute to normal aorticopulmonary septation. Science 220 4601 (1983) 1059-1061
    • (1983) Science , vol.220 , Issue.4601 , pp. 1059-1061
    • Kirby, M.L.1    Gale, T.F.2    Stewart, D.E.3
  • 12
    • 26444605527 scopus 로고    scopus 로고
    • Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA)
    • Muncke N., Niesler B., Roeth R., et al. Mutational analysis of the PITX2 coding region revealed no common cause for transposition of the great arteries (dTGA). BMC Med Genet 6 (2005) 20
    • (2005) BMC Med Genet , vol.6 , pp. 20
    • Muncke, N.1    Niesler, B.2    Roeth, R.3
  • 13
    • 0037092595 scopus 로고    scopus 로고
    • Molecular genetics of Axenfeld-Rieger malformations
    • Lines M.A., Kozlowsksi K., and Walter M.A. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet 11 (2002) 1177-1184
    • (2002) Hum Mol Genet , vol.11 , pp. 1177-1184
    • Lines, M.A.1    Kozlowsksi, K.2    Walter, M.A.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.