메뉴 건너뛰기




Volumn 82, Issue 3, 1999, Pages 225-227

Brief clinical report: Homozygous alpha-thalassemia associated with hypospadias in three survivors

Author keywords

thalassemia; Contiguous genes; Genital anomaly; Homozygosity; Hypospadias

Indexed keywords

ALPHA THALASSEMIA; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 16P; DISEASE ASSOCIATION; GENE LOCATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; HYPOSPADIAS; MALE; PRIORITY JOURNAL; SURVIVAL; CHROMOSOME 16; FETUS HYDROPS; GENETICS; HOMOZYGOTE; INTRAUTERINE BLOOD TRANSFUSION; MUTATION; NEWBORN;

EID: 0344492697     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990129)82:3<225::AID-AJMG6>3.0.CO;2-Q     Document Type: Article
Times cited : (30)

References (22)
  • 1
    • 0031044286 scopus 로고    scopus 로고
    • Limb defects and congenital anomalies of the genitalia in an infant with homozygous alpha-thalassemia
    • Abuelo DN, Forman EN, Rubin LP. 1997. Limb defects and congenital anomalies of the genitalia in an infant with homozygous alpha-thalassemia. Am J Med Genet 68:158-161.
    • (1997) Am J Med Genet , vol.68 , pp. 158-161
    • Abuelo, D.N.1    Forman, E.N.2    Rubin, L.P.3
  • 2
    • 0028866504 scopus 로고
    • Congenital genitourinary tract abnormalities following cocaine exposure in utero
    • Battin M, Albersheim S, Newman D. 1995. Congenital genitourinary tract abnormalities following cocaine exposure in utero. Am J Perinatol 12:425-428.
    • (1995) Am J Perinatol , vol.12 , pp. 425-428
    • Battin, M.1    Albersheim, S.2    Newman, D.3
  • 5
    • 0025850971 scopus 로고
    • Rapid diagnosis of alpha-thalassemia-I of southeast Asia type and hydrops fetalis by polymerase chain reaction
    • Chang JG, Lee LS, Lin CP, Chen CP. 1991. Rapid diagnosis of alpha-thalassemia-I of southeast Asia type and hydrops fetalis by polymerase chain reaction. Blood 78:853-854.
    • (1991) Blood , vol.78 , pp. 853-854
    • Chang, J.G.1    Lee, L.S.2    Lin, C.P.3    Chen, C.P.4
  • 6
    • 0023236855 scopus 로고
    • Can the product of the θ gene be a real globin?
    • Clegg JB. 1987. Can the product of the θ gene be a real globin? Nature 329:465-466.
    • (1987) Nature , vol.329 , pp. 465-466
    • Clegg, J.B.1
  • 7
  • 10
    • 0028288596 scopus 로고
    • The effect of intrauterine vascular compromise on further development of corpus spongiosum and urethra
    • Kizilcan F, Tanyel FC, Cakar N, Buyukpamukcu N, Hicsonmez A. 1994. The effect of intrauterine vascular compromise on further development of corpus spongiosum and urethra. Eur J Pediatr Surg 4:26-29.
    • (1994) Eur J Pediatr Surg , vol.4 , pp. 26-29
    • Kizilcan, F.1    Tanyel, F.C.2    Cakar, N.3    Buyukpamukcu, N.4    Hicsonmez, A.5
  • 11
    • 0030940684 scopus 로고    scopus 로고
    • Second-trimester hydrops fetalis in pregnancies affected by homozygous α-thalassemia-1
    • Lam YH, Ghosh A, Tang MHY, Lee CP, Sin SY. 1997. Second-trimester hydrops fetalis in pregnancies affected by homozygous α-thalassemia-1. Prenat Diagn 17:267-269.
    • (1997) Prenat Diagn , vol.17 , pp. 267-269
    • Lam, Y.H.1    Ghosh, A.2    Tang, M.H.Y.3    Lee, C.P.4    Sin, S.Y.5
  • 12
    • 0030905118 scopus 로고    scopus 로고
    • Prevalence and genotypes of alpha- And beta-thalassemia carriers in Hong Kong - Implications for population screening
    • Lau YL, Chan LC, Chan YY, Ha SU, Yeung CY, Waye JS, Chui DH. 1997. Prevalence and genotypes of alpha- and beta-thalassemia carriers in Hong Kong - implications for population screening. N Engl J Med 336:1298-1301.
    • (1997) N Engl J Med , vol.336 , pp. 1298-1301
    • Lau, Y.L.1    Chan, L.C.2    Chan, Y.Y.3    Ha, S.U.4    Yeung, C.Y.5    Waye, J.S.6    Chui, D.H.7
  • 13
    • 0021807743 scopus 로고
    • Homozygous alpha-thalassemia: Clinical presentation, diagnosis and management. a review of 46 cases
    • Liang ST, Wong VC, So WW, Ma HK, Chan V, Todd D. 1985. Homozygous alpha-thalassemia: clinical presentation, diagnosis and management. A review of 46 cases. Br J Obstet Gynaecol 92:680-684.
    • (1985) Br J Obstet Gynaecol , vol.92 , pp. 680-684
    • Liang, S.T.1    Wong, V.C.2    So, W.W.3    Ma, H.K.4    Chan, V.5    Todd, D.6
  • 16
    • 0023647951 scopus 로고
    • Recombination at the human α-globin gene cluster: Sequence features and topological constraints
    • Nicholls RD, Fischel-Ghodsian N, Higgs DR. 1987. Recombination at the human α-globin gene cluster: sequence features and topological constraints. Cell 49:369-378.
    • (1987) Cell , vol.49 , pp. 369-378
    • Nicholls, R.D.1    Fischel-Ghodsian, N.2    Higgs, D.R.3
  • 17
    • 0020363734 scopus 로고
    • The structure of a human ζ-globin gene and a closely linked, nearby identical pseudogene
    • Proudfoot NJ, Maniatis T. 1982. The structure of a human ζ-globin gene and a closely linked, nearby identical pseudogene. Cell 31:553-563.
    • (1982) Cell , vol.31 , pp. 553-563
    • Proudfoot, N.J.1    Maniatis, T.2
  • 18
    • 0023253564 scopus 로고
    • Evidence that the recently discovered θ1-globin gene is functional in higher primates
    • Shaw JP, Marks J, Shen CKJ. 1987. Evidence that the recently discovered θ1-globin gene is functional in higher primates. Nature 326:717-720.
    • (1987) Nature , vol.326 , pp. 717-720
    • Shaw, J.P.1    Marks, J.2    Shen, C.K.J.3
  • 19
    • 0025159809 scopus 로고
    • Genetic and environmental factors in hypospadias
    • Stoll C, Alembik Y, Roth MP, Dott B. 1990. Genetic and environmental factors in hypospadias. J Med Genet 27:559-563.
    • (1990) J Med Genet , vol.27 , pp. 559-563
    • Stoll, C.1    Alembik, Y.2    Roth, M.P.3    Dott, B.4
  • 21
    • 0021112810 scopus 로고
    • Transcriptional activity of the human pseudogene ψα-globin compared with α-globin, its functional counterpart
    • Whitelaw E, Proudfoot NJ. 1983. Transcriptional activity of the human pseudogene ψα-globin compared with α-globin, its functional counterpart. Nucleic Acids Res 11:7717-7733.
    • (1983) Nucleic Acids Res , vol.11 , pp. 7717-7733
    • Whitelaw, E.1    Proudfoot, N.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.