Rozen R., 1996. Molecular genetics of methylenetetrahydrofolate reductase deficiency. /. Inherit. Metab. Dis., 19: 589-594.
Runte M., Varon R., Horn D., Horsthemke B., and Buiting K., 2005. Exclusion of the C/D box snoRNA gene cluster HBII-52 from a major role in Prader-Willi syndrome. Hum. Genet. 116: 228-230.
Schimke R.N., Horton W.A., and King C.R., 1971. Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome. Lancet 1: 1088-1089.
Schule B., Albalwi M., Northrop E., Francis D.L., Rowell M., Slater H.R., Gardner R.J., and Francke U., 2005. Molecular breakpoint cloning and gene expression studies of a novel translocation t(4; 15)(q27 ;ql 1.2) associated with Prader-Willi syndrome. BMC Med. Genet. 6: 18.
Schwahn B. and Rozen R., 2001. Polymorphisms in the methylenetetrahydrofolate reductase gene: Clinical consequences. Am. J. Pharmacogenomics 1. 189-201.
Shahbazian M.D., Antalffy B., Armstrong D.L., and Zoghbi H.Y., 2002a. Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation. Hum. Mol. Genet. 11: 115-124.
Shahbazian M., Young J., Yuva-Paylor L., Spencer C., Antalffy B., Noebels J., Armstrong D., Paylor R., and Zoghbi H., 2002b. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35: 243-254.
Smeets D.F., Moog U., Weemaes C.M.. Vaes-Peeters G., Merkx G.F., Niehof J.P., and Hamers G., 1994. ICF syndrome: A new case and review of the literature. Hum. Genet. 94: 240-246.
Smeets D.F., Hamel B.C., Nelen M.R., Smeets H.J., Bollen J.H., Smits A.P., Ropers H.H., and van Oost B.A., 1992. Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15. A. Engl. J. Med. 326: 807-811.
Smilinich N.J., Day CD., Fitzpatrick G.V., Caldwell G.M., Lossie A.C., Cooper P.R., Smallwood A.C., Joyce J.A., Schofield P.N., Reik W., et al., 1999. A maternally methylated CpG island in KvLQTl is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wedemann syndrome. Proc. Natl. Acad. Sci. 96: 8064-8069.
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.