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先天性心脏病的细胞分子遗传学研究进展——先心病与22q11缺失 被引量:3

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摘要 先天性心脏病(以下简称先心病)在新生活婴的患病率为8-10‰,严重地威胁着患儿的健康。关于先心病的病因、迄今仍不清楚,归纳对先心病的研究观点可分为三个阶段:一、70年代以前,认为先心病可能与孕母头三个月病毒感染有关(主要是风疹病毒);二、70、80年...
出处 《中国优生与遗传杂志》 1998年第5期5-7,共3页 Chinese Journal of Birth Health & Heredity
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  • 1Lahat E, Heyman E, Barkay A, et al. Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature[J]. J Child Neurol,2000,15(12):808-810.
  • 2Punal JE,Siebert MF,Angueira FB,et al.Three new patients with congenital unilateral facial Palsy due to Chromosome 22q11 deletion[J].J Child Neurol,2001,16(6):450-452.
  • 3Cayler GG.Cardiofacial syndrome:congenital heart disease and facial weakness,a hitherto unrecognized association[J].Arch Dis Child ,1969,44:69-75.
  • 4Akcakus M,Ozkul Y,Gunes T,et al.Associated anomalies in asymmetric crying facies and 22q11 deletion[J].Genet Couns,2003,14(3):325-330.
  • 5Eiris-Punal J, Iglesias-Meleiro JM, Blanco-Barca MO, et al.Phenotypic variability of deletion 22q11.2: An analysis of 16 observations with special emphasis on the neurological manifestations[J].Rev Neurol,2003 ,37(7):601-607.
  • 6Caksen H, Odabas D, Tuncer O,et al. A review of 35 cases of asymmetric crying facies[J]. Genet Couns,2004,15(2):159-165.
  • 7Wilson DJ, Googship JA, Bum J, et al. Deletions within chromosome 22q11 in farnilial congenital heart disease, Lancet, 1992, 340,573-5.
  • 8Webber SA, Hatchewell E, BarBer JCK, et al. Importance of microdele-tions of chromosomal region 22q11 in the etiology of selected malformations of the Ventricular outflow tracts and aortic arch:athree-year prospective study. Pediatr, 1996,129: 26-32.
  • 9Payne RM, Johson MC, Grant JW, et al. Toward a molecular undestanding of congenital heart disease. Circulation, 1995, 91: 494-504.
  • 10陈灏珠.中国医学百科全书,心脏病学.上海科学技术出版社,1987,6-P8.

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