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A. K. Saxena, Gupta, J., Pandey, S., Gangopadhaya, A. N., and Pandey, L. K., Prevalence of cystathionine beta synthase gene mutation 852Ins68 as a possible risk for neural tube defects in eastern India, vol. 10, pp. 2424-2429, 2011.
Botto LD, Moore CA, Khoury MJ and Erickson JD (1999). Neural-tube defects. N. Engl. J. Med. 341: 1509-1519. PMid:10559453 Kluijtmans LAJ, Boers GHJ, Trijbels FJM and Van Lith-Zanders HMA (1997). Neural tube defects. Biochem. Mol. Med. 62: 23-25. PMid:9367794 Kraus JP, Oliveriusova J, Sokolova J, Kraus E, et al. (1998). The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms. Genomics 52: 312-324. PMid:9790750 Kraus JP, Janosik M, Kozich V, Mandell R, et al. (1999). Cystathionine β-synthase mutations in homocystinuria. Hum. Mutat. 13: 362-375.<362::AID-HUMU4>3.0.CO;2-K Miller SA, Dykes DD and Polesky HF (1988). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16: 1215. PMid:3344216    PMCid:334765 Moore CA, Li S, Li Z, Hong SX, et al. (1997). Elevated rates of severe neural tube defects in a high-prevalence area in northern China. Am. J. Med. Genet. 73: 113-118.<113::AID-AJMG2>3.0.CO;2-V Mosley BS, Cleves MA, Siega-Riz AM, Shaw GM, et al. (2009). Neural tube defects and maternal folate intake among pregnancies conceived after folic acid fortification in the United States. Am. J. Epidemiol. 169: 9-17. PMid:18953063    PMCid:3139973 Mudd SH, Levy HL and Kraus JP (2001). From Disorders of Transsulfuration. In: The Metabolic and Molecular Bases of Inherited Disease. 8th edn. (Scriver CR, Beaudet AL, Sly WS, Valle D, et al., eds.). McGraw-Hill, New York, 2007-2056. Munke M, Kraus JP, Ohura T and Francke U (1988). The gene for cystathionine β-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17. Am. J. Hum. Genet. 42: 550-559. PMid:2894761    PMCid:1715237 Sebastio G, Sperandeo MP, Panico M, de FR, et al. (1995). The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations. Am. J. Hum. Genet. 56: 1324-1333. PMid:7762555    PMCid:1801112 Sperandeo MP, de Francis R, Andria G and Sebastio G (1996). A 68-bp insertion found in a homocystinuric patient is a common variant and is skipped by alternative splicing of the cystathionine β-synthase mRNA. Am. J. Hum. Genet. 59: 1391-1393. PMid:8940285    PMCid:1914867 Thomas JA, Markovac J and Ganong WF (1994). Anencephaly and other neural tube defects. Front Neuroendocrinol. 15: 197-201. PMid:7813743 Tsai MY, Garg U, Key NS, Hanson NQ, et al. (1996a). Molecular and biochemical approaches in the identification of heterozygotes for homocystinuria. Atherosclerosis 122: 69-77. Tsai MY, Bignell M, Schwichtenberg K and Hanson NQ (1996b). High prevalence of a mutation in the cystathionine beta-synthase gene. Am. J. Hum. Genet. 59: 1262-1267. PMid:8940271    PMCid:1914870