- Inversion mutation as a major cause of severe hemophilia A in Italian patients. Mori, P.G., Caprino, D., Bicocchi, M.P., Valetto, A., Bottini, F., Aquila, M. Haematologica (1997)
- CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Weisenberger, D.J., Siegmund, K.D., Campan, M., Young, J., Long, T.I., Faasse, M.A., Kang, G.H., Widschwendter, M., Weener, D., Buchanan, D., Koh, H., Simms, L., Barker, M., Leggett, B., Levine, J., Kim, M., French, A.J., Thibodeau, S.N., Jass, J., Haile, R., Laird, P.W. Nat. Genet. (2006)
- CpG island hypermethylation is maintained in human colorectal cancer cells after RNAi-mediated depletion of DNMT1. Ting, A.H., Jair, K.W., Suzuki, H., Yen, R.W., Baylin, S.B., Schuebel, K.E. Nat. Genet. (2004)
- The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Reyniers, E., Vits, L., De Boulle, K., Van Roy, B., Van Velzen, D., de Graaff, E., Verkerk, A.J., Jorens, H.Z., Darby, J.K., Oostra, B. Nat. Genet. (1993)
- Pathological and molecular aspects of prostate cancer. DeMarzo, A.M., Nelson, W.G., Isaacs, W.B., Epstein, J.I. Lancet (2003)
- Isolation of a 40-kDa Huntingtin-associated protein. Peters, M.F., Ross, C.A. J. Biol. Chem. (2001)
- Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Knight, S.J., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middleton-Price, H.R., Barnicoat, A., Pembrey, M.E. Cell (1993)
- Transcription of tissue-specific genes in human preimplantation embryos. Daniels, R., Lowell, S., Bolton, V., Monk, M. Hum. Reprod. (1997)
- Distribution, silencing potential and evolutionary impact of promoter DNA methylation in the human genome. Weber, M., Hellmann, I., Stadler, M.B., Ramos, L., Pääbo, S., Rebhan, M., Schübeler, D. Nat. Genet. (2007)
- A stem cell-like chromatin pattern may predispose tumor suppressor genes to DNA hypermethylation and heritable silencing. Ohm, J.E., McGarvey, K.M., Yu, X., Cheng, L., Schuebel, K.E., Cope, L., Mohammad, H.P., Chen, W., Daniel, V.C., Yu, W., Berman, D.M., Jenuwein, T., Pruitt, K., Sharkis, S.J., Watkins, D.N., Herman, J.G., Baylin, S.B. Nat. Genet. (2007)
- Evidence for an instructive mechanism of de novo methylation in cancer cells. Keshet, I., Schlesinger, Y., Farkash, S., Rand, E., Hecht, M., Segal, E., Pikarski, E., Young, R.A., Niveleau, A., Cedar, H., Simon, I. Nat. Genet. (2006)
- A point mutation in the FMR-1 gene associated with fragile X mental retardation. De Boulle, K., Verkerk, A.J., Reyniers, E., Vits, L., Hendrickx, J., Van Roy, B., Van den Bos, F., de Graaff, E., Oostra, B.A., Willems, P.J. Nat. Genet. (1993)
- MYO18B, a candidate tumor suppressor gene at chromosome 22q12.1, deleted, mutated, and methylated in human lung cancer. Nishioka, M., Kohno, T., Tani, M., Yanaihara, N., Tomizawa, Y., Otsuka, A., Sasaki, S., Kobayashi, K., Niki, T., Maeshima, A., Sekido, Y., Minna, J.D., Sone, S., Yokota, J. Proc. Natl. Acad. Sci. U.S.A. (2002)
- Transcriptional silencing of Polo-like kinase 2 (SNK/PLK2) is a frequent event in B-cell malignancies. Syed, N., Smith, P., Sullivan, A., Spender, L.C., Dyer, M., Karran, L., O'Nions, J., Allday, M., Hoffmann, I., Crawford, D., Griffin, B., Farrell, P.J., Crook, T. Blood (2006)
- p15(INK4B) CpG island methylation in primary acute leukemia is heterogeneous and suggests density as a critical factor for transcriptional silencing. Cameron, E.E., Baylin, S.B., Herman, J.G. Blood (1999)
- Shared epigenetic mechanisms in human and mouse gliomas inactivate expression of the growth suppressor SLC5A8. Hong, C., Maunakea, A., Jun, P., Bollen, A.W., Hodgson, J.G., Goldenberg, D.D., Weiss, W.A., Costello, J.F. Cancer Res. (2005)
- PCR assay for the inversion causing severe Hemophilia A and its application. Liu, J., Liu, Q., Liang, Y., Wang, L., Nozary, G., Xiao, B., Zhu, Z., Zhou, Y., Liu, L., Guan, Y., Zhang, J., Sommer, S.S. Chin. Med. J. (1999)
- Huntingtin-HAP40 complex is a novel Rab5 effector that regulates early endosome motility and is up-regulated in Huntington's disease. Pal, A., Severin, F., Lommer, B., Shevchenko, A., Zerial, M. J. Cell Biol. (2006)
- Investigation of the factor VIII intron 22 repeated region (int22h) and the associated inversion junctions. Naylor, J.A., Buck, D., Green, P., Williamson, H., Bentley, D., Giannelli, F. Hum. Mol. Genet. (1995)
- Carrier detection for prenatal diagnosis of hemophilia A in Italian families. Cappello, N., Restagno, G., Garnerone, S., Gennaro, C., Perugini, L., Rendine, S., Piazza, A., Carbonara, A. Haematologica (1992)
- SOCS-1, a negative regulator of the JAK/STAT pathway, is silenced by methylation in human hepatocellular carcinoma and shows growth-suppression activity. Yoshikawa, H., Matsubara, K., Qian, G.S., Jackson, P., Groopman, J.D., Manning, J.E., Harris, C.C., Herman, J.G. Nat. Genet. (2001)
- Methylation of the oestrogen receptor CpG island links ageing and neoplasia in human colon. Issa, J.P., Ottaviano, Y.L., Celano, P., Hamilton, S.R., Davidson, N.E., Baylin, S.B. Nat. Genet. (1994)
- Evidence for a third transcript from the human factor VIII gene. Levinson, B., Kenwrick, S., Gamel, P., Fisher, K., Gitschier, J. Genomics (1992)
- Disruption of the Fanconi anemia-BRCA pathway in cisplatin-sensitive ovarian tumors. Taniguchi, T., Tischkowitz, M., Ameziane, N., Hodgson, S.V., Mathew, C.G., Joenje, H., Mok, S.C., D'Andrea, A.D. Nat. Med. (2003)
- Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Oberlé, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boué, J., Bertheas, M.F., Mandel, J.L. Science (1991)
- Dynamic DNA methylation change in the CpG island region of p15 during human myeloid development. Sakashita, K., Koike, K., Kinoshita, T., Shiohara, M., Kamijo, T., Taniguchi, S., Kubota, T. J. Clin. Invest. (2001)
- HPP1: a transmembrane protein-encoding gene commonly methylated in colorectal polyps and cancers. Young, J., Biden, K.G., Simms, L.A., Huggard, P., Karamatic, R., Eyre, H.J., Sutherland, G.R., Herath, N., Barker, M., Anderson, G.J., Fitzpatrick, D.R., Ramm, G.A., Jass, J.R., Leggett, B.A. Proc. Natl. Acad. Sci. U.S.A. (2001)
- Tandem arrangement of human genes for interleukin-4 and interleukin-13: resemblance in their organization. Smirnov, D.V., Smirnova, M.G., Korobko, V.G., Frolova, E.I. Gene (1995)
- Elevated mRNA levels of DNA methyltransferase-1 as an independent prognostic factor in primary nonsmall cell lung cancer. Kim, H., Kwon, Y.M., Kim, J.S., Han, J., Shim, Y.M., Park, J., Kim, D.H. Cancer (2006)
- Differentiation and injury-repair signals modulate the interaction of E2F and pRB proteins with novel target genes in keratinocytes. Chang, W.Y., Andrews, J., Carter, D.E., Dagnino, L. Cell Cycle (2006)
- The endothelin receptor B (EDNRB) promoter displays heterogeneous, site specific methylation patterns in normal and tumor cells. Pao, M.M., Tsutsumi, M., Liang, G., Uzvolgyi, E., Gonzales, F.A., Jones, P.A. Hum. Mol. Genet. (2001)
- De novo CpG island methylation in human cancer cells. Jair, K.W., Bachman, K.E., Suzuki, H., Ting, A.H., Rhee, I., Yen, R.W., Baylin, S.B., Schuebel, K.E. Cancer Res. (2006)
- Hypomethylation of the synuclein gamma gene CpG island promotes its aberrant expression in breast carcinoma and ovarian carcinoma. Gupta, A., Godwin, A.K., Vanderveer, L., Lu, A., Liu, J. Cancer Res. (2003)
- 5-Azacytidine-induced reactivation of the human X chromosome-linked PGK1 gene is associated with a large region of cytosine demethylation in the 5' CpG island. Hansen, R.S., Gartler, S.M. Proc. Natl. Acad. Sci. U.S.A. (1990)
- Methylation of the HIC-1 candidate tumor suppressor gene in human breast cancer. Fujii, H., Biel, M.A., Zhou, W., Weitzman, S.A., Baylin, S.B., Gabrielson, E. Oncogene (1998)
- The human ARF cell cycle regulatory gene promoter is a CpG island which can be silenced by DNA methylation and down-regulated by wild-type p53. Robertson, K.D., Jones, P.A. Mol. Cell. Biol. (1998)
- Frequent epigenetic inactivation of the SLIT2 gene in gliomas. Dallol, A., Krex, D., Hesson, L., Eng, C., Maher, E.R., Latif, F. Oncogene (2003)
- Hypermethylation of NAD(P)H: quinone oxidoreductase 1 (NQO1) gene in human hepatocellular carcinoma. Tada, M., Yokosuka, O., Fukai, K., Chiba, T., Imazeki, F., Tokuhisa, T., Saisho, H. J. Hepatol. (2005)
- Methylation status and expression of human telomerase reverse transcriptase mRNA in relation to hypermethylation of the p16 gene in colorectal cancers as analyzed by bisulfite PCR-SSCP. Nomoto, K., Maekawa, M., Sugano, K., Ushiama, M., Fukayama, N., Fujita, S., Kakizoe, T. Jpn. J. Clin. Oncol. (2002)
- A novel p16INK4A transcript. Mao, L., Merlo, A., Bedi, G., Shapiro, G.I., Edwards, C.D., Rollins, B.J., Sidransky, D. Cancer Res. (1995)
- Identification of the physiological promoter for spinocerebellar ataxia 2 gene reveals a CpG island for promoter activity situated into the exon 1 of this gene and provides data about the origin of the nonmethylated state of these types of islands. Aguiar, J., Santurlidis, S., Nowok, J., Alexander, C., Rudnicki, D., Gispert, S., Schulz, W., Auburger, G. Biochem. Biophys. Res. Commun. (1999)
- Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28. Kambouris, M., Dlouhy, S.R., Trofatter, J.A., Conneally, P.M., Hodes, M.E. Am. J. Med. Genet. (1988)
- DNMT1 is required to maintain CpG methylation and aberrant gene silencing in human cancer cells. Robert, M.F., Morin, S., Beaulieu, N., Gauthier, F., Chute, I.C., Barsalou, A., MacLeod, A.R. Nat. Genet. (2003)
- Aberrant DNA methylation as a cancer-inducing mechanism. Esteller, M. Annu. Rev. Pharmacol. Toxicol. (2005)
- Silencing of human polycomb target genes is associated with methylation of histone H3 Lys 27. Kirmizis, A., Bartley, S.M., Kuzmichev, A., Margueron, R., Reinberg, D., Green, R., Farnham, P.J. Genes Dev. (2004)
- Isolating human transcription factor targets by coupling chromatin immunoprecipitation and CpG island microarray analysis. Weinmann, A.S., Yan, P.S., Oberley, M.J., Huang, T.H., Farnham, P.J. Genes Dev. (2002)
- Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Herman, J.G., Graff, J.R., Myöhänen, S., Nelkin, B.D., Baylin, S.B. Proc. Natl. Acad. Sci. U.S.A. (1996)