| 1 | AFF2
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| Comprehensive molecular testing in patients with high functioning autism spectrum disorder.
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| Alvarez-Mora MI, Calvo Escalona R, Puig Navarro O, Madrigal I, Quintela I, Amigo J, Martinez-Elurbe D, Linder-Lucht M, Aznar Lain G, Carracedo A, Mila M, Rodriguez-Revenga L.
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| Mutat Res 784-785:46-52. doi: 10.1016/j.mrfmmm.2015.12.006. Epub 2016 Jan 6.
2016
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| 2 | AFF2
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| Partial AFF2 microduplication in a patient with auditory processing disorder, emotional impairment and macrosomia.
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| da Rocha NB, dos Santos PA, Safatle HP, de Melo RM, Pereira RW, de Oliveira SF, Pic-Taylor A, Ferrari I, Mazzeu JF.
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| Am J Med Genet A 164A(12):3206-8. doi: 10.1002/ajmg.a.36768. Epub 2014 Sep 24. No abstract available.
2014
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| 3 | AFF2, FOS, JUN
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| Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.
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| Melko M, Nguyen LS, Shaw M, Jolly L, Bardoni B, Gecz J.
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| Hum Mol Genet 22(15):2984-91. doi: 10.1093/hmg/ddt155. Epub 2013 Apr 5.
2013
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| 4 | AFF2
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| Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder.
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| Mondal K, Ramachandran D, Patel VC, Hagen KR, Bose P, Cutler DJ, Zwick ME.
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| Hum Mol Genet 21(19):4356-64. doi: 10.1093/hmg/dds267. Epub 2012 Jul 5.
2012
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| 5 | 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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| 6 | AFF1, AFF2, AFF3, AFF4
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| Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.
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| Melko M, Douguet D, Bensaid M, Zongaro S, Verheggen C, Gecz J, Bardoni B.
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| Hum Mol Genet 20(10):1873-85. Epub 2011 Feb 17.
2011
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| 7 | 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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| 8 | 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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| 9 | ACSL4, AFF2, AGTR2, ARHGEF6, ARX, ATRX, DLG3, ESMR, FTSJ1, GDI1, IL1RAPL1, KDM5C, MECP2, MRX68, MRX89, MRX90, MRXS31, NLGN3, NLGN4X, OPHN1, PQBP1, RPS6KA3, RTTM, SLC16A2, SLC6A8, SYN1, TSPAN7, ZNF41
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| X linked mental retardation: a clinical guide.
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| Raymond FL.
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| J Med Genet 43(3):193-200. Epub 2005 Aug 23. 2006
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| 10 | 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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| 11 | SIAH1, SIAH2, AFF2, AFF1
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| Mediation of Af4 protein function in the cerebellum by Siah proteins.
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| Oliver PL, Bitoun E, Clark J, Jones EL, Davies KE.
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| Proc Natl Acad Sci U S A 101(41):14901-6. Epub 2004 Sep 30. 2004
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| 12 | AFF2, FXTAS
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| Something lost in the translation: 'premutations' in the FMR1 gene cause Fragile X tremor/ataxia syndrome (FXTAS).
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| Leavitt B.
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| Clin Genet 64(2):106-108. No abstract available. 2003
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| 13 | AFF4, EAF1, AFF2, AFF1
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| FMR2 function: insight from a mouse knockout model.
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| Gu Y, Nelson DL.
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| Cytogenet Genome Res 100(1-4):129-39. 2003
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| 14 | AFF2
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| Fragile XE-associated familial mental retardation protein 2 (FMR2) acts as a potent transcription activator.
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| Hillman MA, Gecz J.
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| J Hum Genet 46(5):251-9. 2001
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| 15 | AFF2
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| Localization of the fragile X mental retardation 2 (FMR2) protein in mammalian brain.
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| Miller WJ, Skinner JA, Foss GS, Davies KE.
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| Eur J Neurosci 12(1):381-4. 2000
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| 16 | 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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| 17 | AFF2
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| Characterisation and expression of a large, 13.7 kb FMR2 isoform.
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| Gecz J, et al.
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| Eur J Hum Genet 7(2):157-62. 1999
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| 18 | 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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| 19 | ADRBK1, AR, ZFHX3, CACNA1A, CAPNS1, FOXE1, FOXF1, FMR1, AFF2, HCN1, NRXN1, CA10
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| CCG repeats in cDNAs from human brain.
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| Kleiderlein JJ, Nisson PE, Jessee J, Li WB, Becker KG, Derby ML, Ross CA, Margolis RL.
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| Hum Genet 103(6):666-73. 1998
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| 20 | AFF2, FMR1, FXPOF
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| Studies of FRAXA and FRAXE in women with premature ovarian failure.
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| Murray A, Webb J, Grimley S, Conway G, Jacobs P.
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| J Med Genet 35(8):637-40. 1998
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| 21 | 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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| 22 | 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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| 23 | 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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| 24 | 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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| 25 | 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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