Ehrlich M., Buchanan K.L., Tsien F., Jiang G., Sun B., Uicker W., Weemaes C.M., Smeets D., Sperling K., Belohradsky B.H., et al., 2001. DNA methyltransferase 3B mutations linked to the ICF syndrome cause dysregulation of lymphogenesis genes. Hum. Mol. Genet. 10: 2917-2931.
Engel E., 1980. A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am. J. Med. Genet. 6: 137-143.
Fattal-Valevski A., Bassan H., Korman S.H., Lerman-Sagie T., Gutman A., and Harel S., 2000. Methylenetetrahydrofolate reductase deficiency: Importance of early diagnosis./. Child Neurol. 15: 539-543.
Feng Y., Absher D., Eberhart D.E., Brown V., Maker H.E., and Warren S.T., 1997. FMRP associates with polyribosomes as an mRNP, and the I304N mutation of severe fragile X syndrome abolishes this association. Mol Cell 1: 109-118.
Flint J., Thomas K., Micklem G., Raynham H., Clark K., Doggett N.A., King A., and Higgs D.R., 1997. The relationship between chromosome structure and function at a human telomeric region. Nat. Genet. 15: 252-257.
Forrester W.C., Epner E., Driscoll M.C., Enver T., Brice M., Papa-yannopoulouT., andGroudine M., 1990. A deletion of the human beta-globin locus activation region causes a major alteration in chromatin structure and replication across the entire beta-globin locus. Genes Dev. 4: 1637-1649.
Fraga M.E., Ballestar E., Paz M.E., Ropero S., Setien E., Ball-estar M.L., Heine-Suner D., Cigudosa J.C., Urioste M., Benitez J., et al., 2005. Epigenetic differences arise during the lifetime of monozygotic twins. Proc. Natl. Acad. Sci. 102: 10604-10609.
Gabellini D., Green M.R., and Tupler R., 2002. Inappropriate gene activation in FSHD: A repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 110: 339-348.
Gibbons R.J., Picketts D.J., Villard L., and Higgs D.R., 1995. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell 80: 837-845.
Gibbons R.J., Pellagatti A., Garrick D., Wood W.G., Malik N., Ayyub H., Langford C., Boultwood J.. Wainscoat J.S., and Higgs D.R., 2003. Identification of acquired somatic mutations in the gene encoding chromatin-remodeling factor ATRX in the a-thalassemia myelodysplasia syndrome (ATMDS). Nat. Genet. 34: 446-449.
Gicquel C., Rossignol S., Cabrol S., Houang M., Steunou V., Barbu V., Danton R., Thibaud N., Le Merrer M., Burglen L., et al., 2005. Epimutation of the telomeric imprinting center region on chromosome llpl5 in Silver-Russell syndrome. Nat. Genet. 37: 1003-1007.
Gowher H. and Jeltsch A., 2002. Molecular enzymology of the catalytic domains of the Dnmt3a and Dnmt3b DNA methyl-transferases. J. Biol. Chem. 277: 20409-20414.
Goyette P., Sumner J.S., Milos R., Duncan A.M., Rosenblatt D.S., Matthews R.G., and Rozen R., 1994. Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification. Nat. Genet. 7: 195-200.
Grosveld E., 1999. Activation by locus control regions? Curr. Opin. Genet. Dev. 9: 152-157.
Hagberg B.. Aicardi J., Dias K., and Ramos O., 1983. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett’s syndrome: Report of 35 cases. Ann. Neurol. 14: 471-479.
Hagerman P.J. and Hagerman R.J., 2004. The fragile-X premutation: A maturing perspective. Am. J. Hum. Genet. 74: 805-816.
Hagerman R.J., Van Housen K., Smith A.C., and McGavran L., 1984. Consideration of connective tissue dysfunction in the fragile X syndrome. Am. J. Med. Genet. 17: 111-121.
Handa V., Saha T., and Usdin K., 2003. The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer. Nucleic Acids Res. 31: 6243-6248.
Hansen R.S., Wijmenga C., Luo P., Stanek A.M., Canfield T.K., Weemaes CM., and Gartler S.M., 1999. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. Proc. Natl. Acad. Sci. 96: 14412-14417.
Harikrishnan K.N., Chow M.Z., Baker E.K., Pal S., Bassal S., Bra-sacchio D., Wang L.. Craig J.M., Jones PL., Sif S., and El-Osta A., 2005. Brahma links the SWI/SNF chromatin-remodeling complex with MeCP2-dependent transcriptional silencing. Nat. Genet. 37: 254-264.
Hark A.T., Schoenherr C.J., Katz D.J., Ingram R.S., Levorse J.M., andTilghman S.M., 2000. CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus. Nature 405: 486-489.
Harrison C.J., Jack E.M., Allen T.D., and Harris R., 1983. The fragile X: A scanning electron microscope study. /. Med. Genet., 20: 280-285.
Hasegawa T., Hara M., Ando M., Osawa M., Fukuyama Y., Taka-hashi M., and Yamada K., 1984. Cytogenetic studies of familial Prader-Willi syndrome. Hum. Genet. 65: 325-330.
Hayward B.E., Kamiya M., Strain L., Moran V., Campbell R., Hayashizaki Y, and Bonthron D.T., 1998. The human GNAS1 gene is imprinted and encodes distinct paternally and biallelically expressed G proteins. Proc. Natl. Acad. Sci. 95: 10038-10043.
Henry I., Bonaiti-Pellie C., Chehensse V., Beldjord C, Schwartz C, Utermann G., and Junien C., 1991. Uniparental paternal disomy in a genetic cancer-predisposing syndrome. Nature 351: 665-667.
Hoal-van Helden E.G. and van Helden P.D., 1989. Age-related methylation changes in DNA may reflect the proliferative pc -tential of organs. Mutat. Res. 219: 263-266.
Horike S., Cai S., Miyano M., Cheng J.F., and Kohwi-ShigematsuT., 2005. Loss of silent-chromatin looping and impaired imprinting of DLX5 in Rett syndrome. Nat. Genet. 37: 31-40.
Hubbard VS., Davis P.B., di Sant’Agnese PA., Gorden P., and Schwartz R.H., 1980. Isolated growth hormone deficiency and cystic fibrosis: A report of two cases. Am. J. Dis. Chdd 134: 317-319.
Ingrosso D., Cimmino A., Pema A.F., Masella L., De Santo N.G., De Bonis M.L., Vacca M., D’Esposito M., D’Urso M., Galletti P., and Zappia V., 2003. Folate treatment and unbalanced methylation and changes of allelic expression induced by hyperhomo-cysteinaemia in patients with uraemia. Lancet 361: 1693-1699.
Ishizuka A., Siomi M.C., and Siomi H., 2002. A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins. Genes Dev. 16: 2497-2508.
Issa J.P., Ottaviano Y.L., Celano P., Hamilton S.R., Davidson N.E., and Baylin S.B., 1994. Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Nat. Genet. 7: 536-540.
Jeanpierre M., Turleau C., Aurias A., Prieur M., Ledeist E., Fischer A., and Viegas-Pequignot E., 1993. An embryonic-like methylation pattern of classical satellite DNA is observed in ICF syndrome. Hum. Mol. Genet. 2: 731-735.