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The Principles of Clinical Cytogenetics - Extra Materials - Springer

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264 Linda Marie Randolph<br />

6. Magee, A.C., Nevin, N.C., Armstrong, M.J., McGibbon, D., and Nevin, J. (1998) Ullrich–Turner syndrome: seven<br />

pregnancies in an apparent 45,X woman. Am. J. Med. Genet. 75, 1–3.<br />

7. Kocova, M., Siegel, S.F., Wenger, S.L., Lee, P.A., and Trucco, M. (1993) Detection <strong>of</strong> Y chromosome sequences in<br />

Turner’s syndrome by Southern blot analysis <strong>of</strong> amplified DNA. Lancet 342, 140–143.<br />

8. Davison, R.M., Quilter, C.R., Webb, J., et al. (1998). A familial case <strong>of</strong> X chromosome deletion ascertained by cytogenetic<br />

screening <strong>of</strong> women with premature ovarian failure. Hum. Reprod. 13(11), 3039–3041.<br />

9. Simpson, J.L. and Rajkovic, A (2000) Ovarian differentiation and gonadal failure. Am. J. Med. Genet. 89(4), 186–200.<br />

10. Online Mendelian Inheritance in Man 131200 (http://www.ncbi.nlm.nih/gov/entrez/query.fcgi?db=omim).<br />

11. Gogusev, J., Bouquet de Joliniere, J., Telvi, L., et al. (1999) Detection <strong>of</strong> DNA copy number changes in human endometriosis<br />

by comparitive genomic hybridization. Hum. Genet. 105(5), 444–451.<br />

12. Rowe, P.J., Comhaire, F.H., Hargreave, T.B., and Mellows, H.J. (1993) WHO Manual for the Standardized Investigation<br />

and Diagnosis <strong>of</strong> the Infertile Couple. Cambridge University Press, New York.<br />

13. March, M.R. and Isidori, A. (2002) New frontiers in the treatment <strong>of</strong> male sterility. Contraception 65(4), 279–281.<br />

14. Lissens, W., Liebaers, I. and Van Steirteghem, A. (2002) Male infertility. In <strong>Principles</strong> and Practice <strong>of</strong> Medical Genetics,<br />

4th ed. (Rimoin, D.L., Connor, J.M., Pyeritz, R.E., and Korf, B.R., eds.), Churchill Livingstone, New York, pp. 961–981.<br />

15. Chandley, A.C. (1998) Chromosome anomalies and Y chromosome microdeletions as causal factors in male infertility.<br />

Hum. Reprod. 13(Suppl. 1), 45–50.<br />

16. Hackstein, J.H., Hochstenbach, R., and Pearson, P.L. (2000) Towards an understanding <strong>of</strong> the genetics <strong>of</strong> human male<br />

infertility: lessons from flies. Trends Genet. 16, 565–572.<br />

17. Bor, P., Hindkjaer, J., Kolvraa, S., and Ingerslev, H.J. (2002) Y-chromosome microdeletions and cytogenetic findings<br />

in unselected ICSI candidates at a Danish fertility clinic. J. Assist. Reprod. Genet. 19, 224–231.<br />

18. Bonde, J.P.E., Ernst, E., Jensen, T.K., et al. (1998) Relation between semen quality and fertility: a population-based<br />

study <strong>of</strong> 430 first-pregnancy planners. Lancet 352, 1172–1177.<br />

19. Gunduz, G., Luleci, G., and Bayukara, M. (1998) Cytogenetic study in 102 infertile men. Urol. Int. 61, 32–34.<br />

20. Van Assche, E., Bonduelle, M., Tournaye, H., et al. (1996) <strong>Cytogenetics</strong> <strong>of</strong> infertile men. Hum. Reprod. 4(Suppl. 4), 1–26.<br />

21. Yoshida, A., Miura, K., and Shirai, M. (1997) Cytogenetic survey <strong>of</strong> 1,007 infertile males. Urol. Int. 58, 166–176.<br />

22. Allanson, J.E. and Graham, G.E. (2002) Sex chromosome abnormalities. In <strong>Principles</strong> and Practice <strong>of</strong> Medical Genetics, 4th<br />

ed. (Rimoin, D.L., Connor, J.M., Pyeritz, R.E., and Korf, B.R., eds.), Churchill Livingstone, New York, pp. 1184–1201.<br />

23. Johnson, M.D. (1998) Genetic risks <strong>of</strong> intracytoplasmic sperm injection in the treatment <strong>of</strong> male infertility: recommendations<br />

for genetic counseling and screening. Fertil. Steril. 70, 397–411.<br />

24. Johannisson R., Schwinger E., Wolff, H.H., vom Ende, V., and Lohrs, U. (1993) <strong>The</strong> effect <strong>of</strong> 13;14 translocation on<br />

germ-cell differentiation in infertile males. Cytogenet. Cell Genet. 63, 151–155.<br />

25. Zuffardi, O. and Tiepolo, L. (1982) Frequencies and types <strong>of</strong> chromosome abnormalities associated with human male<br />

infertility. In Serano <strong>Clinical</strong> Cologuia on Reproduction. III. Genetic Control <strong>of</strong> Gamete Production and Function<br />

(Crosignani, P.G. and Rubin, B.L., eds.) Academic/Grune & Stratton, London, pp. 261–273.<br />

26. De Braekeleer, M. and Dao, T-N. (1991) Cytogenetic studies in male infertility: a review. Hum. Reprod. 6, 245–250.<br />

27. Tiepolo, L. and Zuffardi, O. (1976) Localization <strong>of</strong> factors controlling spermatogenesis in the nonfluorescent position<br />

<strong>of</strong> the human Y chromosome long arm. Hum.Genet. 34, 119–134.<br />

28. Kent-First, M.G., Kol, S., Muallem, A., et al. (1996) <strong>The</strong> incidence and possible relevance <strong>of</strong> Y-linked microdeletions<br />

in babies born after intracytoplasmic sperm injection and their infertile fathers. Mol. Hum. Reprod. 2, 943–950.<br />

29. Vogt, P.H., Edelmann, A., Kirsch, S., et al. (1996) Human Y chromosome azoospermia factors (AZF) mapped to<br />

subregions in Yq11. Hum. Mol. Genet. 5, 933–943.<br />

30. Le Bourhis, C., Siffroi, J.P., McElreavey, K., and Dadoune, J P. (2000) Y chromosome microdeletions and germinal<br />

mosaicism in infertile males. Mol. Hum. Reprod. 6, 688–693.<br />

31. Krausz, C., Quintana-Murci, L., Barbaux, S., et al. (1999) A high frequency <strong>of</strong> Y chromosome deletions in males with<br />

nonidiopathic infertility. J. Clin. Endocrinol. Metab. 84, 3606–3612.<br />

32. Ma, K., Inglis, K.J.D., Sharkey, A., et al. (1993) A Y chromosome gene family with RNA-binding protein homology:<br />

candidates for the azoospermia factor AZF controlling human spermatogenesis. Cell 75, 1287–1295.<br />

33. Reijo, R., Lee, T.-Y., Salo, P.et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions<br />

encompassing a novel RNA-binding protein gene. Nature Genet. 10, 383–393.<br />

34. Weighardt, F., Biamonti, G., and Riva, S. (1996) <strong>The</strong> roles <strong>of</strong> heterogeneous nuclear ribonucleoproteins (hnRNP) in<br />

RNA metabolism. Bioessays 18, 747–756.<br />

35. Elliott, D.J., Millar, M.R., Oghene, K., et al. (1997) Expression <strong>of</strong> RBM in the nuclei <strong>of</strong> human germ cells is dependent<br />

on a critical region <strong>of</strong> the Y chromosome long arm. Proc. Natl. Acad. Sci. USA 94, 3848–3853.<br />

36. Delbridge, M.L., Lingenfelter, P.A., Disteche, C.M., and Graves, J.A. (1999) <strong>The</strong> candidate spermatogenesis gene<br />

RBMY has a homologue on the human X chromosome. Nature Genet. 22, 223–224.<br />

37. Saxena, R., Brown, L.G., Hawkins, T., et al. (1996) <strong>The</strong> DAX gene cluster on the human Y chromosome arose from an<br />

autosomal gene that was transposed, repeatedly amplified and pruned. Nature Genet. 14, 292–299.<br />

38. Menke, D.B., Mutter, G.L., and Page, D.C. (1997) Expression <strong>of</strong> DAZ, an azoospermia factor candidate, in human<br />

spermatogonia. Am. J. Hum. Genet. 60, 237–241.

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