Identification of the gene FMR2, associated with FRAXE mental retardation (original) (raw)
Yu, S. et al. Fragile X genotype characterized by an unstable region of DNA. Science252, 1179–1181 (1991). ArticleCAS Google Scholar
Verkerk, A.J.M.H. et al. Identification of a gene (FMR-1) containing a CCG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell65, 905–914 (1991). ArticleCAS Google Scholar
Kremer, E.J. et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science252, 1711–1714 (1991). ArticleCAS Google Scholar
Fu, Y.H. et al. Variation of the CCG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell67, 1047–1058 (1991). ArticleCAS Google Scholar
Knight, S.J. et al. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell74, 127–134, (1993). ArticleCAS Google Scholar
Parrish, J.E. et al. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nature Genet.8, 229–235 (1994). ArticleCAS Google Scholar
Nancarrow, J.K. et al. Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science264, 1938–1941 (1994). ArticleCAS Google Scholar
Jones, C. et al. Association of a chromosome deletion syndrome with fragile site within the proto-oncogene CBL2. Nature376, 145–149 (1995). ArticleCAS Google Scholar
Sutherland, G.R. & Baker, E. Characterization of a new rare fragile site easily confused with the fragile X. Hum. Mol. Genet.1, 111–113 (1992). ArticleCAS Google Scholar
Knight, S.J.L. et al. Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am. J. Hum. Genet.55, 81–86 (1994). CASPubMedPubMed Central Google Scholar
Hamel, B.C.J. et al. Segregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data. Am. J. Hum. Genet.55, 923–931 (1994). CASPubMedPubMed Central Google Scholar
Mulley, J.C. et al. FRAXE and mental retardation. J. Med. Genet.32, 162–169 (1995). ArticleCAS Google Scholar
Gedeon, A.K. Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: Identification of a gene near FRAXE. Am. J. Hum. Genet.56, 907–914 (1995). CASPubMedPubMed Central Google Scholar
Brown, T. et al. Identification of a FRAXE microdeletion associated with a complex mosaic FRAXA mutation. 6th X Chromosome Workshop, S13 (1995).
Riggins, G.J. et al. Human genes containing polymorphic trinucleotide repeats. Nature Genet.2, 186–191 (1992). ArticleCAS Google Scholar
Blake, T.J., Shapiro, M., Morse, H.C. & Langdon, W.Y. The sequence of the human and mouse c-cbl proto-oncogenes shows proline -rich domain and leucine zipper-like motif. Oncogene.6, 653–657 (1991). CASPubMed Google Scholar
Kozak, M. Point mutation define a sequence flanking the AUG initiation codon that modulates translation by eucaryotic ribosomes. Cell44, 283–292 (1986). ArticleCAS Google Scholar
Altchul, D. et al. Basic local alignment tool. J Mol. Biol.215, 403–10 (1990). Article Google Scholar
Nakamura, T. et al. Genes on chromosomes 4, 9 and 19 involved in 11q23 abnormalities in acute leukemias share sequence sequence homology and/or common motifs. Proc. Natl. Acad. Sci. USA90, 4631–4635 (1993). ArticleCAS Google Scholar
Morrissey, J. et al. A serine/proline-rich protein is fused to HRX in t(4;11) acute leukemias. Blood81, 1124–1131 (1993). CASPubMed Google Scholar
Mermod, N., O'Neil, E.A., Kelly, T.J. & Tjian, R. The proline-rich transcription activator of CTF/NF-I is distinct from the replication and DNA binding domain. Cell58, 741–753 (1989). ArticleCAS Google Scholar
Lehrke, R.G. A theory of X-linkage of major intellectual traits. Am. J. Med. Defic.76, 611–619 (1972). CAS Google Scholar
Gedeon, A.K., Donnelly, A.J., Bronwyn, K., Turner, G. & Mulley, J.C. How many X-linked genes for non-specific mental retardation (MRX) are there. Am. J. Med. Genet, (in the press).
Chomczynski, P. & Sacci, N. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem.162, 156–159 (1987). ArticleCAS Google Scholar
Lee, E.Y. & Lee, W.H. Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma. Proc. Natl. Acad. Sci. USA83, 6337–6341 (1986). ArticleCAS Google Scholar
Kalatzis, V. Mapping of contiguous segments of DNA using yeast artificial chromosomes in the region distal to the fragile X. Honours thesis (The University of Adelaide, Adelaide, South Australia, 1991).