bibliografia foresta

BIBLIOGRAFIA / REFERENCES

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Hum. Genet., 95, 205-211. Casals,T., Bassas,L., Egozcue,S. et al. (2000) Heterogeneity for mutations in the CFTR gene and clinical correlations in patients with congenital absence of the vas deferens. Hum. Reprod., 15, 1476-1483. Chu,C.S., Trapnell,B.C., Curristin,S., Cutting,G.R. and Crystal,R.G. (1993) Genetic basis of variable exon-9 skipping in cystic fibrosis transmembrane regulator messenger RNA. Nat. Genet., 3, 151-156. Cohen,L.F., Saint‘Agnese,D.I., Friedlander,J. et al. (1980) Cystic fibrosis and pregnancy - A national survey. Lancet, 842-844. de Kretser,D.M. (1997) Male infertility. Lancet, 349, 787-790. Dork,T, Dworniczak,B., Aulehla-Scholz,C. et al. (1997) Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum. Genet., 100, 365-377. Elliott,D.J., Millar,M.R., Oghene,K., et al. (1997) Expression of RBM in the nuclei of human germ cells is dependent on a critical region of the Y chromosome long arm. Proc. Natl. Acad. Sci. USA, 94, 3848-3853. Fauser,B.C.J.M. and Hsueh,A.J.W. (1995) Genetic basis of human reproductive endocrine disorders. Hum. Reprod., 10, 826-846. Ferraretti,A.P., Gianaroli,L., Magli,M.C., Bafaro,G. and Colacurci,N. (2000) Female poor responders. Mol. Cell. Endocrinol., 161, 59-66. Foresta,C., Moro,E., Garolla,A., Onisto,M. and Ferlin,A. (1999) Y chromosome microdeletions in cryptorchidism and idiopathic infertility. J. Clin. Endocrinol. Metab., 84, 3660-3665. Foresta,C., Ferlin,A. and Moro,E. (2000) Deletion and expression analysis of AZFa-genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum. Mol. Genet., 9, 1161-1169. Foresta,C. Moro,E. and Ferlin,A. (2001) Y chromosome microdeletions and alterations of spermatogenesis. Endocrine Rev., 22, 226-239. Gekas,J., Thepot,F., Turleau,C., et al. (2001) Chromosomal factors on infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum. Reprod., 16, 82-90. 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(1999) A Danish cohort of 730 infants born after intracytoplasmic sperm injection (ICSI) 1994-1997. Hum. Reprod., 14, 2143-2148. Moro,E., Marin,P., Rossi,A., Garolla,A. and Ferlin,A. (2000) Y chromosome microdeletions in infertile men with varicocele. Mol. Cell. Endocrinol., 161, 67-71. Murray,A., Ennis,S., MacSwiney,F., Webb,J. and Morton,N.E. (2000) Reproductive and menstrual history of females with fragile X expansions. Eur. J. Hum. Genet., 8, 247-252. Oliveira,L.M., Seminara,S.B., Beranova,M et al. (2001) The importance of autosomal genes in kallmann syndrome: genotype-phenotype correlations and neuroendocrine characteristics. J. Clin. Endocrinol. Metab., 86, 1532-1538. Patrizio,P., Leonard,D.G., Chen,K.L., Hernandez-Ayup,S. and Trounson,A.O. (2001) Larger trinucleotide repeat size in the androgen receptor gene of infertile men with extremely severe oligozoospermia. J. Androl., 22, 444-448. Plachot,M. (1997) The human oocyte. Genetic aspects. Ann. Genet., 40, 115-120. Quigley,C.A., De Bellis,A., Marschke,K.B., El-Awady M.K., Wilson,E. and French,F.S. (1995) Androgen receptor defects: historical, clinical, and molecular perspective. Endocr. Rev., 16, 271-321. Quinzii,C. and Castellani,C. (2000) The cystic fibrosis transmembrane regulator gene and male infertility. J. Endocrinol. Invest., 23, 684-689. Reijo,R., Lee,T.Y, Salo,P. et al. (1995) Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat. Genet., 14, 292-299. Robbins,W.A., Meistrich,M.L., Moore,D., et al. (1997) Chemotherapy induces transient sex chromosomal and autosomal aneuploidy in human sperm. Nat Genet., 16, 74-8. Rosenbusch,B.E. (1995) Cytogenetics of human spermatozoa: what about the reproductive relevance of structural chromosome aberrations? J. Assist. Reprod. Genet., 12, 375-383. Seminara,S.B., Oliveira,L.M.B., Beranova,M., Hayes,F.J. and Crowley Jr,W.F. (2000) Genetics of hypogonadotropic hypogonadism. J. Endocrinol. Invest., 23, 560-565. Sherman,S.L. (2000) Premature ovarian failure in the fragile X syndrome. Am. J. Med. Genet., 97, 189-194. Siffroi,J.P., Le Bourhis,C., Krausz,C., et al. (2000) Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum. Reprod., 15, 2559-2562. Tiepolo,L. and Zuffardi,O. (1976) Localization of factors controllingspermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum. Genet., 34, 119-124. Tilford,C.A., Kuroda-Kawaguchi,T., Skaletski, H., et al. (2001) A physical map of the human Y chromosome. Nature, 409, 943-945. Van Opstal,D. Los,F.J. and Ramlakhan,S. (1997) Determination of the parent of origin in nine caes of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection. Hum. Reprod., 8, 1055-1060. Verkerk,A.J., Pieretti,M., Sutcliffe,J.S. et al. 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