Выбрать главу

Spence J.E., Perciaccante R.G., Greig G.M., Willard H.F., Ledbetter D.H., Hejtmancik J.F., Pollack M.S., O’Brien W.E., and Beaudet A.L., 1988. Uniparental disomy as a mechanism for human genetic disease. Am. J. Hum. Genet. 42: 217-226.

Spranger J., Hinkel G.K., Stoss H.. Thoenes W., Wargowski D., and Zepp E., 1991. Schimke immuno-osseous dysplasia: A newly recognized multisystem disease./. Pediatr. 119: 64-72.

Sun F.L., Dean W.L., Kelsey G., Allen N.D., and Reik W., 1997. Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature 389: 809-815.

Suter C.M., Martin D.L., and Ward R.L., 2004. Germline epimuta-tion of MLH1 in individuals with multiple cancers. Nat. Genet. 36: 497-501.

Sutherland G.R., 1977. Fragile sites on human chromosomes: Demonstration of their dependence on the type of tissue culture medium. Science, 197: 265-266.

Taha D., Boerkoel C.F., Balfe J.W., Khalifah M., Sloan E.A., Barbar M., Haider A., and Kanaan H., 2004. Fatal lymphoproliferative disorder in a child with Schimke immuno-osseous dysplasia. Am. J. Med. Genet. A 131: 194-199.

Tommerup N., van der Hagen C.B., and Heiberg A., 1992. Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16pl 3.3 by a de novo reciprocal translocation, t(7; 16)(q34;pl3.3). Am. J. Med. Genet. 44: 237-241

Tsai T.E., Jiang Y.H.. Bressler J., Armstrong D.. and Beaudet A.L., 1999. Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome. Hum. Mol. Genet. 8: 1357-1364.

Tuck-Muller C.M., Narayan A., Tsien E., Smeets D.F., Sawyer J., Fiala E.S., Sohn O.S., and Ehrlich M., 2000. DNAhypomethyla-tion and unusual chromosome instability in cell lines from ICF syndrome patients. Cytogenet. Cell Genet. 89: 121-128.

Tupler R. and Gabellini D.. 2004. Molecular basis of facioscapulohumeral muscular dystrophy. Cell. Mol. Life Sci. 61: 557-566.

van Deutekom J.C, Wijmenga C., van Tienhoven E.A., Gruter A.M., Hewitt J.E., Padberg G.W., van Ommen G.J., Hofker M.H., and Frants R.R., 1993. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit. Hum. Mol. Genet. 2: 2037-2042.

Van Esch H., Bauters M., Ignatius J., Jansen M., Raynaud M., Hollanders K., Lugtenberg D., Bienvenu T., Jensen L.R., Gecz J., et al., 2005. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am. J. Hum. Genet. 77: 442-453.

VerkerkA. J.M.H., PierettiM., Sutcliffe J. S., FuY-H., KuhlD.RA., Pizutti A., Reiner O., Richards S., Victoria M.E, Zhang R., et al., 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65: 905-914.

Villard L., Gecz J., Mattel J.F., Fontes M., Saugier-Veber P., Mun-nich A., and Lyonnet S., 1996. XNP mutation in a large family with Juberg-Marsidi syndrome. Nat. Genet. 12: 359-360.

Wan M., Zhao K., Lee S.S., and Francke U., 2001. A/FCP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome. Hum. Mol. Genet 10: 1085-1092.

Wan M., Lee S.S., Zhang X., Houwink-Manville I., Song H.R., Amir R.E., Budden S., Naidu S., Pereira J.L., Lo I.F., et al., 1999. Rett syndrome and beyond: Recurrent spontaneous and familial MECP2 mutations at CpG hotspots. Am. J. Hum. Genet. 65: 1520-1529.

Warren S.T. and Sherman S.L., 2001. The fragile X syndrome. In The metabolic and molecular bases of inherited disease, 8th edition (ed. C.R. Scriver et al.), vol. 1, pp. 1257-1289. McGraw-Hill, New York.

Waterland R.A. and Jirtle R.L., 2003. Transposable elements: Targets for early nutritional effects on epigenetic gene regulation. Mol. Cell. Biol. 23: 5293-5300.

Weatherall D.J., Clegg M.B., Higgs D.R., and Wood W.G., 2001. The hemoglobinopathies. In The metabolic & molecular bases of inherited disease, 8th edition (ed. C.R. Scriver et al.), pp. 4571-4636. McGraw-Hill, New York.

Weaver I.C., CervoniN., Champagne F.A., D’Alessio A.C., Sharma S., Seckl J.R., Dymov S., Szyf M., and Meaney M.J., 2004. Epigenetic programming by maternal behavior. Nat. Neurosci. 7: 847-854.

Weiler I.J. and Greenough W.T., 1999. Synaptic synthesis of the Fragile X protein: Possible involvement in synapse maturation and elimination. Am. J. Med. Genet. 83: 248-252.

Weksberg R., Smith A.C., Squire J., and Sadowski P., 2003. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum. Mol. Genet. 12: R61-R68

Weksberg R., Nishikawa J., Caluseriu O., Fei Y.L., Shuman C., Wei C., Steele L., Cameron J., Smith A., Ambus I., et al., 2001. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 1 lpl5 alterations including imprinting defects of KCNQIOTI. Hum. Mol. Genet. 10: 2989-3000.

Weksberg R., Teshima I., Williams B.R., Greenberg C.R., Pueschel S.M., Chemos J.E., Fowlow S.B., Hoyme E., Anderson I.J., Whiteman D.A., et al., 1993. Molecular characterization of cytogenetic alterations associated with the Beckwith-Wiedemann syndrome (BWS) phenotype refines the localization and suggests the gene for BWS is imprinted. Hum. Mol. Genet. 2: 549-556.

Wijmenga C., Hewitt J.E., Sandkuijl L.A., Clark L.N., Wnght T.J., Dauwerse H.G., Gruter A.M., Hofker M.H., Moerer P., Williamson R., et al., 1992. Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat. Genet. 2: 26-30.

Willemsen R., Hoogeveen-Westerveld M., Reis S., Holstege J., Severij-nen L.A., Nieuwenhuizen I.M.. Schrier M., Van Unen L., Tassone E., Hoogeveen A.T., et al., 2003. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum. Mol. Genet. 12: 949-959.

Wolff G.L., Kodell R.L., Moore S.R., and Cooney C.A., 1998. Maternal epigenetics and methyl supplements affect agouti gene expression in A?? mice. Faseb J. 12: 949-957.

Xu G.L., Bestor T.H., Bourc’his D., Hsieh C.L., Tommerup N, Bugge M.. Hulten M.. QuX., Russo J.J.. and Viegas-Pequignot E., 1999. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature 402: 187-191.

Yntema H.G., Poppelaars F.A., Derksen E., Oudakker A.R., van Roos-malen T, Jacobs A., Obbema H., Brunner H.G., Hamel B.C., and van Bokhoven H., 2002. Expanding phenotype of XNP mutations: Mild to moderate mental retardation. Am. J. Med. Genet. 110: 243-247.