Prenatal Diagnosis of Genetic Disorders Leading to Mental Retardation
作者： Serge B. Melancon , Henry L. Nadler
DOI: 10.1007/978-1-4899-6375-8_1
关键词: Chromosomal analysis 、 Prenatal diagnosis 、 Fetus 、 Amniocentesis 、 Early detection 、 Aryl sulfatase 、 Pediatrics 、 Screening procedures 、 Medicine
摘要: The prenatal detection of genetic disorders has become an area increasing importance during the past few years. development reliable screening procedures for early familial leading to mental retardation stimulated demand assessment fetal integrity in “high risk” pregnancies. acceptance transabdominal amniocentesis as a safe procedure and advances tissue culture techniques well micromethods biochemical assays chromosomal analysis have all contributed rapid this field.
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sci-hub.st 参考文章(187)
Keith L. Moore, The sex chromatin ,(1966)
N C Myrianthopoulos, S M Aronson, Population dynamics of Tay-Sachs disease. I. Reproductive fitness and selection. American Journal of Human Genetics. ,vol. 18, pp. 313- 327 ,(1966)
E Beutler, H Nadler, W Kuhl, R Teplitz, F Trinidad, Beta-glucosidase activity in fibroblasts from homozygotes and heterozygotes for Gaucher's disease. American Journal of Human Genetics. ,vol. 23, pp. 62- 66 ,(1971)
Agüero O, Zighelboim I, Fetography and molegraphy. Surgery gynecology & obstetrics. ,vol. 130, pp. 649- ,(1970)
CJ Epstein, RO Brady, EL Schneider, RM Bradley, D Shapiro, None, In utero diagnosis of Niemann-Pick disease. American Journal of Human Genetics. ,vol. 23, pp. 533- 535 ,(1971)
Sewell C, Hurlock B, Cope Cl, The distribution of adrenal cortical hormone in some body fluids. Clinical Science. ,vol. 14, pp. 25- 36 ,(1955)
C. de Duve, B. C. Pressman, R. Gianetto, R. Wattiaux, F. Appelmans, Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue* Biochemical Journal. ,vol. 60, pp. 604- 617 ,(1955) , 10.1042/BJ0600604
Julian N. Kanfer, Oscar M. Young, David Shapiro, Roscoe O. Brady, The Metabolism of Sphingomyelin Journal of Biological Chemistry. ,vol. 241, pp. 1081- 1084 ,(1966) , 10.1016/S0021-9258(18)96805-5
Landrum B. Shettles, Nuclear morphology of cells in human amniotic fluid in relation to sex of infant American Journal of Obstetrics and Gynecology. ,vol. 71, pp. 834- 838 ,(1956) , 10.1016/0002-9378(56)90579-8
Adolf E. Schindler, Walter L. Herrmann, Estriol in pregnancy urine and amniotic fluid. American Journal of Obstetrics and Gynecology. ,vol. 95, pp. 301- 307 ,(1966) , 10.1016/0002-9378(66)90103-7