| 1 | AFF2, DELXQM, FRAXE
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| Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
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| Sahoo T, Theisen A, Marble M, Tervo R, Rosenfeld JA, Torchia BS, Shaffer LG.
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| Am J Med Genet A 155(12):3110-5. doi: 10.1002/ajmg.a.34345. Epub 2011 Nov 7. 2011
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| 2 | AFF2, FRAXE
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| FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure.
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| Bensaid M, Melko M, Bechara EG, Davidovic L, Berretta A, Catania MV, Gecz J, Lalli E, Bardoni B.
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| Nucleic Acids Res 37(4):1269-79. Epub 2009 Jan 9.
2009
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| 3 | AFF2, FRAXE
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| Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene.
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| Honda S, Hayashi S, Kato M, Niida Y, Hayasaka K, Okuyama T, Imoto I, Mizutani S, Inazawa J.
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| Am J Med Genet A 143(7):687-93. 2007
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| 4 | AFF2, FMR3, FRAXE
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| Lack of FMR3 expression in a male with non-syndromic mental retardation and a microdeletion immediately distal to FRAXE CCG repeat.
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| Santos-Rebouas CB, Abdalla CB, Fullston T, Campos M Jr, Pimentel MM, Gcz J.
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| Neurosci Lett 397(3):245-8. Epub 2006 Feb 15. 2006
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| 5 | FXN, FRDA, FRAXA, FMR1, FRAXE, ATXN1, SCA1, ATXN2, SCA2, ATXN3, MJD, ATXN7, SCA7, SCA6, CACNA1A, SCA17, TBP, DRPLA, ATN1, AR, SBMA, DM1, DMPK, DM2, CNBP, SCA10, ATXN10, SCA12, PPP2R2B, SCA8, ATXN8OS
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| Diseases of unstable repeat expansion: mechanisms and common principles.
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| Gatchel JR, Zoghbi HY.
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| Nat Rev Genet 6(10):743-55. Review. 2005
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| 6 | FMR3, FRAXE
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| FMR3 is a novel gene associated with FRAXE CpG island and transcriptionally silent in FRAXE full mutations.
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| Gecz J.
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| J Med Genet 37(10):782-4. 2000
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| 7 | AFF2, FRAXE
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| The FMR2 gene, FRAXE and non-specific X-linked mental retardation: clinical and molecular aspects.
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| Gecz J.
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| Ann Hum Genet 64(Pt 2):95-106. Review. 2000
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| 8 | AFF2, FRAXE, FXPOF
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| Microdeletions in FMR2 may be a significant cause of premature ovarian failure.
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| Murray A, Webb J, Dennis N, Conway G, Morton N.
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| J Med Genet 36(10):767-70. 1999
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| 9 | FRAXA, FRAXE
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| FRAXA and FRAXE : evidence against segregation distortion and for an effect of intermediate alleles on learning disability.
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| Teague JW, Morton NE, Dennis NR, Curtis G, McKechnie N, Macpherson JN, Murray A, Pound MC, Sharrock AJ, Youings SA, Jacobs PA.
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| Proc Natl Acad Sci U S A 95(2):719-24. 1998
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| 10 | FRAXE
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| FRAXE : the HindIII/OXE20 restriction polymorphism is not a rare variant.
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| Blayau M, et al.
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| Hum Genet 103 : 626-627. 1998
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| 11 | FRAXE, AFF2
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| Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families.
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| Russo S, Selicorni A, Bedeschi MF, Natacci F, Viziello P, Fortuna R, Pagani G, Dalpra L, Larizza L.
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| Am J Med Genet 75(3):304-8. 1998
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| 12 | FRAXE
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| Clinical, cytogenetic, and molecular analysis of three families with FRAXE.
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| Barnicoat AJ, et al.
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| J Med Genet 34 : 13-17. 1997
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| 13 | AFF2, FRAXE
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| FMR2 expression in families with FRAXE mental retardation.
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| Gcz J, et al.
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| Hum Mol Genet 6 : 435-441. 1997
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| 14 | AFF2, FMR2L, FRAXE
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| Gene structure and subcellular localization of FMR2, a member of a new family of putative transcription activators.
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| Gecz J, Bielby S, Sutherland GR, Mulley JC.
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| Genomics 44(2):201-13. 1997
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| 15 | FRAXA, FRAXE
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| Molecular and cytogenetic investigations of the fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes.
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| Gurling HM, Bolton PF, Vincent J, Melmer G, Rutter M.
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| Hum Hered 47(5):254-62. 1997
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| 16 | FRAXE, AFF2
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| A candidate gene for mild mental handicap at the FRAXE fragile site.
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| Chakrabarti L, et al.
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| Hum Mol Genet 5 : 275-282. 1996
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| 17 | AFF2, FRAXE
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| Identification of the gene FMR2, associated with FRAXE mental retardation.
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| Gecz J, et al.
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| Nat Genet 13 : 105-108. 1996
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| 18 | AFF2, FRAXE
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| Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island.
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| Gu Y, et al.
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| Nat Genet 13 : 109-113. 1996
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| 19 | FRAXE
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| A study of FRAXE in mentally retarded individuals referred for fragile Xsyndrome (FRAXA) testing in the United Kingdom.
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| Knight SJL, et al.
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| Am J Hum Genet 58 : 906-913. 1996
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| 20 | FRAXA, FRAXE
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| Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis : analysis of four FRAXE families with mild mental retardation in males.
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| Biancalana V, et al.
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| Am J Hum Genet 59 : 847-854. 1996
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| 21 | FRAXE
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| FRAXE and mental retardation.
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| Mulley JC, et al.
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| J Med Genet 32 : 162-169. 1995
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| 22 | FRAXE
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| Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders : identification of a gene near FRAXE.
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| Gedeon AK, et al.
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| Am J Hum Genet 56 : 907-914. 1995
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| 23 | FRAXE
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| FRAXE expansion is not a common etiological factor among developmentally delayed males.
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| Allingham-Hawkins DJ, et al.
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| Am J Hum Genet 56 : 72-76. 1995
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| 24 | FRAXE
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| Segregation of FRAXE in a large family : clinical, psychometric, cytogenetic, and molecular data.
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| Hamel BCJ, et al.
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| Am J Hum Genet 55 : 923-931. 1994
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| 25 | FRAXE
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| Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.
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| Knight SJL, et al.
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| Am J Hum Genet 55 : 81-86. 1994
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| 26 | FRAXE
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| Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.
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| Knight SJL, et al.
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| Cell 74 : 127-134. 1993
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| 27 | FRAXE
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| Identification of the FRAXE fragile site in two families ascertained for X-linked mental retardation.
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| Flynn GA, et al.
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| J Med Genet 30 : 97-103. 1993
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| 28 | FRAXE
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| Characterization of a new rare fragile site easily confused with the fragile X.
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| Sutherland GR, et al.
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| Hum Mol Genet 1 : 111-113. 1992
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| 29 | FRAXE
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| Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.
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| Dennis NR, et al.
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| Am J Med Genet 43 : 232-236. 1992
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| 30 | FRAXE
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| Molecular heterogeneity of the fragile X syndrome.
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| Nakahori Y, et al.
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| Nucleic Acids Res 19 : 4355-4359. 1991
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