论文信息 - Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience - 字舞流文

Prenatal diagnosis of the Cockayne syndrome: survey of 15 years experience

Evaluation of results in a consecutive series of 29 prenatal diagnoses for the Cockayne syndrome.

N. Jaspers | A. Raams | W. Kleijer | M. L. T. van der Sterre | Nicolaas G J Jaspers | Anja Raams | Wim J Kleijer | Marianne L T van der Sterre | Victor H Garritsen | V. Garritsen | V. H. Garritsen

[1] M. Ikenaga,et al. Prenatal diagnosis of Cockayne syndrome using assay of colony‐forming ability in ultraviolet light irradiated cells , 1982 .

[2] W. C. Charles,et al. Prenatal diagnosis of xeroderma pigmentosum and cockayne syndrome , 1994, Prenatal diagnosis.

[3] P. Norris,et al. Cockayne's syndrome: correlation of clinical features with cellular sensitivity of RNA synthesis to UV irradiation. , 1993, Journal of medical genetics.

[4] J. Trosko,et al. Cockayne syndrome: a cellular sensitivity to ultraviolet light. , 1977, Pediatrics.

[5] S. Colella,et al. Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome. , 1998, American journal of human genetics.

[6] L. Mullenders,et al. Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells. , 1993, Nucleic acids research.

[7] A. Lehmann,et al. PRENATAL DIAGNOSIS OF COCKAYNE'S SYNDROME , 1985, The Lancet.

[8] A. Lehmann,et al. Failure of RNA synthesis to recover after UV irradiation: an early defect in cells from individuals with Cockayne's syndrome and xeroderma pigmentosum. , 1982, Cancer research.

[9] G. Lang,et al. Maternal cell contamination in chorionic villus samples assessed by direct preparations and three different culture methods , 1988, Prenatal diagnosis.

[10] M. Nance,et al. Cockayne syndrome: review of 140 cases. , 1992, American journal of medical genetics.