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2011
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. http://dx.doi.org/10.1056/NEJM199911113412006 PMid:10559453 Kluijtmans LAJ, Boers GHJ, Trijbels FJM and Van Lith-Zanders HMA (1997). Neural tube defects. Biochem. Mol. Med. 62: 23-25. http://dx.doi.org/10.1006/bmme.1997.2623 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. http://dx.doi.org/10.1006/geno.1998.5437 PMid:9790750 Kraus JP, Janosik M, Kozich V, Mandell R, et al. (1999). Cystathionine β-synthase mutations in homocystinuria. Hum. Mutat. 13: 362-375. http://dx.doi.org/10.1002/(SICI)1098-1004(1999)13:5<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. http://dx.doi.org/10.1093/nar/16.3.1215 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. http://dx.doi.org/10.1002/(SICI)1096-8628(19971212)73:2<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. http://dx.doi.org/10.1093/aje/kwn331 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. http://dx.doi.org/10.1006/frne.1994.1008 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. http://dx.doi.org/10.1016/0021-9150(95)05748-X 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
2010
L. K. Pandey, Pandey, S., Gupta, J., and Saxena, A. K., Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients, vol. 9, pp. 1267-1273, 2010.
Calogero AE, Garofalo MR, Barone N, De Palma A, et al. (2001). Spontaneous regression over time of the germinal epithelium in a Y chromosome-microdeleted patient: Case report. Hum. Reprod. 16: 1845-1848. http://dx.doi.org/10.1093/humrep/16.9.1845 PMid:11527886   Chang PL, Sauer MV and Brown S (1999). Y chromosome microdeletion in a father and his four infertile sons. Hum. Reprod. 14: 2689-2694. http://dx.doi.org/10.1093/humrep/14.11.2689 PMid:10548602   Chiang HS, Wei HJ and Chen YT (2000). Genetic screening for patients with azoospermia and severe oligo-asthenospermia. Int. J. Androl. 23: 20-25. http://dx.doi.org/10.1046/j.1365-2605.2000.00006.x PMid:10849487   Foresta C, Ferlin A, Garolla A, Moro E, et al. (1998). High frequency of well-defined Y-chromosome deletions in idiopathic Sertoli cell-only syndrome. Hum. Reprod. 13: 302-307. http://dx.doi.org/10.1093/humrep/13.2.302 PMid:9557827   Frydelund-Larsen L, Krausz C, Leffers H, Andersson AM, et al. (2002). Inhibin B: a marker for the functional state of the seminiferous epithelium in patients with azoospermia factor C microdeletions. J. Clin. Endocrinol. Metab. 87: 5618-5624. http://dx.doi.org/10.1210/jc.2002-020737 PMid:12466362   Henegariu O, Hirschmann P, Kilian K, Kirsch S, et al. (1994). Rapid screening of the Y chromosome in idiopathic sterile men, diagnostic for deletions in AZF, a genetic Y factor expressed during spermatogenesis. Andrologia 26: 97-106. http://dx.doi.org/10.1111/j.1439-0272.1994.tb00765.x PMid:8042776   Kato H, Komori S, Nakata Y, Sakata K, et al. (2001). Screening for deletions in interval D16-22 of the Y chromosome in azoospermic and oligozoospermic Japanese men. J. Hum. Genet. 46: 110-114. http://dx.doi.org/10.1007/s100380170097 PMid:11310577   Kerr NJ, Zhang J, Sin FY, Benny P, et al. (2000). Frequency of microdeletions in the azoospermia factor region of the Y-chromosome of New Zealand men. N. Z. Med. J. 113: 468-470. PMid:11194754   Komori S, Kato H, Kobayashi S, Koyama K, et al. (2002). Transmission of Y chromosomal microdeletions from father to son through intracytoplasmic sperm injection. J. Hum. Genet. 47: 465-468. http://dx.doi.org/10.1007/s100380200066 PMid:12202984   Krausz C, Quintana-Murci L and McElreavey K (2000). Prognostic value of Y deletion analysis: what is the clinical prognostic value of Y chromosome microdeletion analysis? Hum. Reprod. 15: 1431-1434. http://dx.doi.org/10.1093/humrep/15.7.1431 PMid:10875846   Krausz C, Rajpert-De ME, Frydelund-Larsen L, Quintana-Murci L, et al. (2001). Double-blind Y chromosome microdeletion analysis in men with known sperm parameters and reproductive hormone profiles: microdeletions are specific for spermatogenic failure. J. Clin. Endocrinol. Metab. 86: 2638-2642. http://dx.doi.org/10.1210/jc.86.6.2638 PMid:11397865   Krausz C, Forti G and McElreavey K (2003). The Y chromosome and male fertility and infertility. Int. J. Androl. 26: 70-75. http://dx.doi.org/10.1046/j.1365-2605.2003.00402.x PMid:12641824   Lin WW, Lamb DJ, Lipshultz LI and Kim ED (1998). Absence of cyclic adenosine 3':5' monophosphate responsive element modulator expression at the spermatocyte arrest stage. Fertil. Steril. 69: 533-538. http://dx.doi.org/10.1016/S0015-0282(97)00535-5   Lucas H, Patrat C, Jouannet P, Beldjord C, et al. (2000). A novel, rapid, and accurate method for detecting microdeletion involving the DAZ gene in infertile men. Fertil. Steril. 73: 242-247. http://dx.doi.org/10.1016/S0015-0282(99)00504-X   Lupski JR (1998). Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits. Trends Genet. 14: 417-422. http://dx.doi.org/10.1016/S0168-9525(98)01555-8   Ma K, Inglis JD, Sharkey A, Bickmore WA, et al. (1993). A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75: 1287-1295. http://dx.doi.org/10.1016/0092-8674(93)90616-X   Madgar I, Green L, Kent-First M, Weissenberg R, et al. (2002). Genotyping of Israeli infertile men with idiopathic oligozoospermia. Clin. Genet. 62: 203-207. http://dx.doi.org/10.1034/j.1399-0004.2002.620303.x PMid:12220434   Martinez MC, Bernabe MJ, Gomez E, Ballesteros A, et al. (2000). Screening for AZF deletion in a large series of severely impaired spermatogenesis patients. J. Androl. 21: 651-655. PMid:10975411   Osterlund C, Segersteen E, Arver S and Pousette A (2000). Low number of Y-chromosome deletions in infertile azoospermic men at a Swedish andrology centre. Int. J. Androl. 23: 225-229. http://dx.doi.org/10.1046/j.1365-2605.2000.00234.x PMid:10886425   Page DC, Silber S and Brown LG (1999). Men with infertility caused by AZFc deletion can produce sons by intracytoplasmic sperm injection, but are likely to transmit the deletion and infertility. Hum. Reprod. 14: 1722-1726. http://dx.doi.org/10.1093/humrep/14.7.1722 PMid:10402375   Pryor JL, Kent-First M, Muallem A, Van Bergen AH, et al. (1997). Microdeletions in the Y chromosome of infertile men. N. Engl. J. Med. 336: 534-539. http://dx.doi.org/10.1056/NEJM199702203360802 PMid:9023089   Sawai H, Komori S and Koyama K (2002). Molecular analysis of the Y chromosome AZFc region in Japanese infertile males with spermatogenic defects. J. Reprod. Immunol. 53: 37-44. http://dx.doi.org/10.1016/S0165-0378(01)00090-0   Sigman M and Jarow JP (1997). Endocrine evaluation of infertile men. Urology 50: 659-664. http://dx.doi.org/10.1016/S0090-4295(97)00340-3   Thangaraj K, Gupta NJ, Pavani K, Reddy AG, et al. (2003). Y chromosome deletions in azoospermic men in India. J. Androl. 24: 588-597. PMid:12826698   Tiepolo L and Zuffardi O (1976). Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet. 34: 119-124. http://dx.doi.org/10.1007/BF00278879 PMid:1002136   Tse JY, Yeung WS, Ng EH, Cheng LN, et al. (2002). A comparative study of Y chromosome microdeletions in infertile males from two Chinese populations. J. Assist. Reprod. Genet. 19: 376-383. http://dx.doi.org/10.1023/A:1016346421177 PMid:12182444 PMCid:3455580   van der Ven, Montag M, Peschka B, Leygraaf J, et al. (1997). Combined cytogenetic and Y chromosome microdeletion screening in males undergoing intracytoplasmic sperm injection. Mol. Hum. Reprod. 3: 699-704. http://dx.doi.org/10.1093/molehr/3.8.699 PMid:9294854   Vogt PH, Edelmann A, Hirschmann P and Kohler MR (1995). The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis. Reprod. Fertil. Dev. 7: 685-693. http://dx.doi.org/10.1071/RD9950685 PMid:8711205   Vogt PH, Edelmann A, Kirsch S, Henegariu O, et al. (1996). Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum. Mol. Genet. 5: 933-943. http://dx.doi.org/10.1093/hmg/5.7.933 PMid:8817327   WHO (1992). WHO Laboratory Manual for the Examination of Human Semen and Semen-Cervical Mucus Interaction. 3rd edn. Cambridge University Press, Cambridge.   Winters SJ (1994). Endocrine evaluation of testicular function. Endocrinol. Metab. Clin. North Am. 23: 709-723. PMid:7705316   Yunis JJ, Sawyer JR and Ball DW (1978). The characterization of high-resolution G-banded chromosomes of man. Chromosoma 67: 293-307. http://dx.doi.org/10.1007/BF00285963 PMid:357112