| 1 | CFL1, FRAXA, RAC1
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| Aberrant Rac1-cofilin signaling mediates defects in dendritic spines, synaptic function, and sensory perception in fragile X syndrome.
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| Pyronneau A, He Q, Hwang JY, Porch M, Contractor A, Zukin RS.
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| Sci Signal 10(504). pii: eaan0852. doi: 10.1126/scisignal.aan0852.
2017
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| 2 | ADAM10, APP, FRAXA
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| Dysregulated ADAM10-Mediated Processing of APP during a Critical Time Window Leads to Synaptic Deficits in Fragile X Syndrome.
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| Pasciuto E, Ahmed T, Wahle T, Gardoni F, D'Andrea L, Pacini L, Jacquemont S, Tassone F, Balschun D, Dotti CG, Callaerts-Vegh Z, D'Hooge R, Müller UC, Di Luca M, De Strooper B, Bagni C.
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| Neuron 87(2):382-98. doi: 10.1016/j.neuron.2015.06.032.
2015
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| 3 | FMR1, FRAXA
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| A novel fragile X syndrome mutation reveals a conserved role for the carboxy-terminus in FMRP localization and function.
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| Okray Z, de Esch CE, Van Esch H, Devriendt K, Claeys A, Yan J, Verbeeck J, Froyen G, Willemsen R, de Vrij FM, Hassan BA.
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| EMBO Mol Med 7(4):423-37. doi: 10.15252/emmm.201404576.
2015
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| 4 | FMR1, FRAXA
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| Programmed cell death is impaired in the developing brain of FMR1 mutants.
|
| Cheng Y, Corbin JG, Levy RJ.
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| Dev Neurosci 35(4):347-58. doi: 10.1159/000353248. Epub 2013 Jul 27.
2013
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| 5 | FMR1, FRAXA
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| Craniofacial characteristics of fragile X syndrome in mouse and man.
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| Heulens I, Suttie M, Postnov A, De Clerck N, Perrotta CS, Mattina T, Faravelli F, Forzano F, Kooy RF, Hammond P.
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| Eur J Hum Genet 21(8):816-23. doi: 10.1038/ejhg.2012.265. Epub 2012 Dec 5.
2013
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| 6 | FMR1, FRAXA
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| FMRP targets distinct mRNA sequence elements to regulate protein expression.
|
| Ascano M Jr, Mukherjee N, Bandaru P, Miller JB, Nusbaum JD, Corcoran DL, Langlois C, Munschauer M, Dewell S, Hafner M, Williams Z, Ohler U, Tuschl T.
|
| Nature 492(7429):382-6. doi: 10.1038/nature11737. Epub 2012 Dec 12.
2012
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| 7 | FRAXA, FXPOF, FXTAS
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| The FRAXopathies: definition, overview, and update.
|
| Pirozzi F, Tabolacci E, Neri G.
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| Am J Med Genet A 155A(8):1803-16. doi: 10.1002/ajmg.a.34113. Epub 2011 Jul 7. 2011
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| 8 | FMR1, FRAXA
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| Fragile X mental retardation protein regulates new neuron differentiation in the adult olfactory bulb.
|
| Scotto-Lomassese S, Nissant A, Mota T, Néant-Féry M, Oostra BA, Greer CA, Lledo PM, Trembleau A, Caillé I.
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| J Neurosci 31(6):2205-15.
2011
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| 9 | FRAXA, FXPOF
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| X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers.
|
| Spath MA, Nillesen WN, Smits AP, Feuth TB, Braat DD, van Kessel AG, Yntema HG.
|
| Am J Med Genet A 152A(2):387-93.PMID: 20101683 2010
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| 10 | FMR1, FRAXA
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| Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
|
| Godler DE, Tassone F, Loesch DZ, Taylor AK, Gehling F, Hagerman RJ, Burgess T, Ganesamoorthy D, Hennerich D, Gordon L, Evans A, Choo KH, Slater HR.
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| Hum Mol Genet 19(8):1618-32. Epub 2010 Jan 29.
2010
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| 11 | FMR1, FRAXA
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| The behavioral phenotype of FMR1 mutations.
|
| Boyle L, Kaufmann WE.
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| Am J Med Genet C Semin Med Genet 154C(4):469-76. Review. 2010
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| 12 | FMR1, FRAXA
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| The distribution of repressive histone modifications on silenced FMR1 alleles provides clues to the mechanism of gene silencing in fragile X syndrome.
|
| Kumari D, Usdin K.
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| Hum Mol Genet 19(23):4634-42. Epub 2010 Sep 14.
2010
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| 13 | AUTSX3, FRAXA
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| Autism spectrum disorder in fragile X syndrome: a longitudinal evaluation.
|
| Hernandez RN, Feinberg RL, Vaurio R, Passanante NM, Thompson RE, Kaufmann WE.
|
| Am J Med Genet A 149A(6):1125-37.
2009
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| 14 | FMR1, FRAXA
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| Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.
|
| Coffee B, Keith K, Albizua I, Malone T, Mowrey J, Sherman SL, Warren ST.
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| Am J Hum Genet 85(4):503-14.
2009
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| 15 | FRAXA
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| Fragile X syndrome: from molecular genetics to therapy.
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| D'Hulst C, Kooy RF.
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| J Med Genet 46(9):577-84.
2009
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| 16 | FMR1, FRAXA
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| A distinct DNA-methylation boundary in the 5'- upstream sequence of the FMR1 promoter binds nuclear proteins and is lost in fragile X syndrome.
|
| Naumann A, Hochstein N, Weber S, Fanning E, Doerfler W.
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| Am J Hum Genet 85(5):606-16. Epub 2009 Oct 22.PMID: 19853235 2009
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| 17 | FRAXA, FMR1
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| Aberrant early-phase ERK inactivation impedes neuronal function in fragile X syndrome.
|
| Kim SH, Markham JA, Weiler IJ, Greenough WT.
|
| Proc Natl Acad Sci U S A 105(11):4429-34. Epub 2008 Mar 10. 2008
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| 18 | FRAXA
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| Secondary medical diagnosis in fragile X syndrome with and without autism spectrum disorder.
|
| Garc’a-Nonell C, Ratera ER, Harris S, Hessl D, Ono MY, Tartaglia N, Marvin E, Tassone F, Hagerman RJ.
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| Am J Med Genet A 146A(15):1911-6. 2008
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| 19 | AS, DEL22Q11, DUP15Q12, DUP17P12, DUP22Q11, DUP7Q11, FRAXA, PWS, RTT, SMS, WBS
|
| Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
|
| Ramocki MB, Zoghbi HY.
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| Nature 455(7215):912-8.
2008
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| 20 | FMR1, FRAXA
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| No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50.
|
| Hunter JE, Allen EG, Abramowitz A, Rusin M, Leslie M, Novak G, Hamilton D, Shubeck L, Charen K, Sherman SL.
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| Am J Hum Genet 83(6):692-702. Epub 2008 Nov 20.
2008
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| 21 | FMR1, FXTAS, FRAXA
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| Neuropathic features in fragile X premutation carriers.
|
| Berry-Kravis E, Goetz CG, Leehey MA, Hagerman RJ, Zhang L, Li L, Nguyen D, Hall DA, Tartaglia N, Cogswell J, Tassone F, Hagerman PJ.
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| Am J Med Genet A 143(1):19-26. 2007
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| 22 | FRAXA
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| Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats.
|
| Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, Hagerman RJ, Tassone F.
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| J Med Genet 44(3):200-4. Epub 2006 Aug 11. 2007
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| 23 | FRAXA, GRM5, FMR1
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| Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors.
|
| Nakamoto M, Nalavadi V, Epstein MP, Narayanan U, Bassell GJ, Warren ST.
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| Proc Natl Acad Sci U S A 104(39):15537-42. Epub 2007 Sep 19. 2007
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| 24 | FMR1, FRAXA, ASFMR1
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| An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals.
|
| Ladd PD, Smith LE, Rabaia NA, Moore JM, Georges SA, Hansen RS, Hagerman RJ, Tassone F, Tapscott SJ, Filippova GN.
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| Hum Mol Genet 16(24):3174-87. Epub 2007 Oct 6. 2007
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| 25 | FRAXA
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| Correction of fragile X syndrome in mice.
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| Dšlen G, Osterweil E, Rao BS, Smith GB, Auerbach BD, Chattarji S, Bear MF.
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| Neuron 56(6):955-62. 2007
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| 26 | FMR1, FRAXA
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| Fronto-striatal dysfunction and potential compensatory mechanisms in male adolescents with fragile X syndrome.
|
| Hoeft F, Hernandez A, Parthasarathy S, Watson CL, Hall SS, Reiss AL.
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| Hum Brain Mapp 28(6):543-54.
2007
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| 27 | FMR1, FRAXA
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| Fragile X mental retardation syndrome: structure of the KH1-KH2 domains of fragile X mental retardation protein.
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| Valverde R, Pozdnyakova I, Kajander T, Venkatraman J, Regan L.
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| Structure 15(9):1090-8.
2007
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| 28 | FRAXA, FXPOF, FXTAS
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| The Fragile X premutation: new insights and clinical consequences.
|
| Van Esch H.
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| Eur J Med Genet 49(1):1-8. Epub 2005 Dec 5. 2006
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| 29 | FRAXA
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| Cognitive-behavioral profiles of females with the fragile X mutation.
|
| Fisch GS.
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| Am J Med Genet A 140(7):673-7. 2006
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| 30 | FRAXA, FXPOF
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| Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers.
|
| Ennis S, Ward D, Murray A.
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| Eur J Hum Genet 14(2):253-5. 2006
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| 31 | FRAXA, FMR1
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| A cryptic full mutation in a male with a classical Fragile X phenotype.
|
| MacKenzie JJ, Sumargo I, Taylor SA.
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| Clin Genet 70(1):39-42. 2006
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| 32 | FRAXA, FMR1
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| ADHD symptoms in children with FXS.
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| Sullivan K, Hatton D, Hammer J, Sideris J, Hooper S, Ornstein P, Bailey D Jr.
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| Am J Med Genet A 140(21):2275-88. 2006
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| 33 | FRAXA, FXPOF
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| Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.
|
| Bodega B, Bione S, Dalprˆ L, Toniolo D, Ornaghi F, Vegetti W, Ginelli E, Marozzi A.
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| Hum Reprod 21(4):952-7. Epub 2005 Dec 16. 2006
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| 34 | FMR1, FXTAS, FRAXA
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| Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond.
|
| Loesch DZ, Churchyard A, Brotchie P, Marot M, Tassone F.
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| Clin Genet 67(5):412-7. 2005
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| 35 | FXTAS, FMR1, FRAXA
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| Parkinsonism, FXTAS, and FMR1 premutations.
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| Toft M, Aasly J, Bisceglio G, Adler CH, Uitti RJ, Krygowska-Wajs A, Lynch T, Wszolek ZK, Farrer MJ.
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| Mov Disord 20(2):230-3. 2005
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| 36 | 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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| 37 | FMR1, FRAXA
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| New insights into Fragile X syndrome. Relating genotype to phenotype at the molecular level.
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| Pozdnyakova I, Regan L.
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| FEBS J 272(3):872-8. 2005
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| 38 | FMR1, FRAXA
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| Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in Fragile X syndrome.
|
| Koekkoek SK, Yamaguchi K, Milojkovic BA, Dortland BR, Ruigrok TJ, Maex R, De Graaf W, Smit AE, VanderWerf F, Bakker CE, Willemsen R, Ikeda T, Kakizawa S, Onodera K, Nelson DL, Mientjes E, Joosten M, De Schutter E, Oostra BA, Ito M, De Zeeuw CI.
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| Neuron 47(3):339-52. 2005
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| 39 | ALMS1, AS, BFLS, FRAXA, MEHMO, MRXS11, MRXS7, PHP1A, PWS, WTSL1
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| Fat chance: genetic syndromes with obesity.
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| Delrue MA, Michaud J.
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| Clin Genet 66(2):83-93. 2004
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| 40 | AGO1, DICER1, FMR1, FRAXA
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| Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway.
|
| Jin P, Zarnescu DC, Ceman S, Nakamoto M, Mowrey J, Jongens TA, Nelson DL, Moses K, Warren ST.
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| Nat Neurosci 7(2):113-7. Epub 2004 Jan 4. 2004
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| 41 | FMR1, FRAXA
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| Advances in understanding of fragile X pathogenesis and FMRP function, and in identification of X linked mental retardation genes.
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| Bardoni B, Mandel JL.
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| Curr Opin Genet Dev 12(3):284-93. Review. 2002
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| 42 | FMR1, FRAXA
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| Sequence variation within the fragile X locus.
|
| Mathews DJ, Kashuk C, Brightwell G, Eichler EE, Chakravarti A.
|
| Genome Res 11(8):1382-91. 2001
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| 43 | FRAXA
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| Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations.
|
| Hundscheid RD, Sistermans EA, Thomas CM, Braat DD, Straatman H, Kiemeney LA, Oostra BA, Smits AP.
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| Am J Hum Genet 66(2):413-8. 2000
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| 44 | FRAXA, POF1B
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| X chromosome genes and premature ovarian failure.
|
| Bione S, Toniolo D.
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| Semin Reprod Med 18(1):51-7. Review. 2000
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| 45 | FRAXA, FXPOF
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| Premature ovarian failure (POF) and fragile X premutation females: from POF to to fragile X carrier identification, from fragile X carrier diagnosis to POF association data.
|
| Uzielli ML, et al.
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| Am J Med Genet 84(3):300-3. 1999
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| 46 | FMR1, FRAXA
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| Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.
|
| Grasso M, Faravelli F, Nigro CL, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD.
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| Am J Med Genet 85(3):311-6. 1999
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| 47 | 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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| 48 | FRAXA
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| Unusual mutations in high functioning fragile X males : apparent instability of expanded unmethylated CGG repeats.
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| Wohrle D, Salat U, Glaser D, Mucke J, Meisel-Stosiek M, Schindler D, Vogel W, Steinbach P.
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| J Med Genet 35(2):103-11. 1998
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| 49 | FMR1, FRAXA
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| Mosaicism for full mutation and normal-sized allele of the FMR1 gene : a new case.
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| Orrico A, et al.
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| Am J Med Genet 78 : 341-344. 1998
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| 50 | FMR1, FRAXA
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| Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation.
|
| Weiler IJ, et al.
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| Proc Natl Acad Sci U S A 94 : 5395-5400. 1997
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| 51 | FMR1, FRAXA
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| Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.
|
| Wolff DJ, Gustashaw KM, Zurcher V, Ko L, White W, Weiss L, Van Dyke DL, Schwartz S, Willard HF.
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| Hum Genet 100(2):256-61. 1997
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| 52 | 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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| 53 | FMR1, FRAXA
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| Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome.
|
| Wang YC, Lin ML, Lin SJ, Li YC, Li SY.
|
| Hum Mutat 10(5):393-9. 1997
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| 54 | FMR1, FRAXA
|
| FMRP associates with polyribosomes as an mRNP, and the 1304N mutation of severe fragile X syndrome abolishes this association.
|
| Feng Y, et al.
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| Mol Cell 1 : 109-118. 1997
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| 55 | FMR1, FRAXA
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| FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.
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| Wang Z, et al.
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| J Med Genet 33 : 376-378. 1996
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| 56 | FRAXA, FMR1
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| Unexpected inheritance of the (CGG)n trinucleotide expansion in a fragile X syndrome family.
|
| Malzac P, et al.
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| Eur J Hum Genet 4 : 8-12. 1996
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| 57 | FMR1, FRAXA
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| The fragile X mental protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals.
|
| Eberhart DE, et al.
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| Hum Mol Genet 5 : 1083-1091. 1996
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| 58 | 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.
|
| Biancalana V, et al.
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| Am J Hum Genet 59 : 847-854. 1996
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| 59 | FMR1, FRAXA
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| Familial transmission of the FMR1 CGG repeat.
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| Nolin SL, et al.
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| Am J Hum Genet 59 : 1252-1261. 1996
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| 60 | ADFN, F9, FRAXA, HPT1, IDS, SOX3, THAS
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| YAC/STS map across 12 Mb of Xq27 at 25-kb resolution, merging Xq26-qter.
|
| Zucchi I, et al.
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| Genomics 34 : 42-54. 1996
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| 61 | FMR1, FRAXA
|
| Expansion of the CGG repeat in fragile X in the FMR1 gene depends on the sex of the offspring.
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| Loesch DZ, et al.
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| Am J Hum Genet 57 : 1408-1413. 1995
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| 62 | FMR1, FRAXA
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| Translational suppression by trinucleotide repeat expansion at FMR1.
|
| Feng Y, et al.
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| Science 268 : 731-734. 1995
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| 63 | FRAXA, FMR1
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| An atypical case of fragile X syndrome caused by a deletion that includes the FMRI gene.
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| Quan F, et al.
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| Am J Hum Genet 56 : 1042-1051. 1995
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| 64 | FMR1, FRAXA
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| Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome.
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| Lugenbeel KA, et al.
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| Nat Genet 10 : 483-485. 1995
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| 65 | FRAXA, FMR1
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| Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.
|
| De Graaff E, et al.
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| Hum Mol Genet 4 : 45-49. 1995
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| 66 | FMR1, FRAXA, FXR1, FXR2
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| The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2.
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| Zhang Y, O'Connor JP, Siomi MC, Srinivasan S, Dutra A, Nussbaum RL, Dreyfuss G.
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| EMBO J. 14(21):5358-66. 1995
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| 67 | FRAXA
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| Insert size and flanking haplotype in fragile X and normal populations : possible multiple origins for the fragile X mutation.
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| Macpherson JN, et al.
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| Hum Mol Genet 3 : 399-405. 1994
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| 68 | FRAXA
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| Frequency and stability of the fragile X premutation.
|
| Reiss AL, et al.
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| Hum Mol Genet 3 : 393-398. 1994
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| 69 | FMR1, FRAXA
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| A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
|
| Meijer H, et al.
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| Hum Mol Genet 3 : 615-620. 1994
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| 70 | FRAXA, FMR1
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| No mental retardation in a man with 40 % abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.
|
| Rousseau F, et al.
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| Hum Mol Genet 3 : 927-930. 1994
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| 71 | FRAXA
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| Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.
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| Kunst CB, et al.
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| Cell 77 : 853-861. 1994
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| 72 | FRAXA
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| A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3 : the first 2,253 cases.
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| Rousseau F, et al.
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| Am J Hum Genet 55 : 225-237. 1994
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| 73 | FRAXA, FMR1
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| Length of uninterrupted CGG repeats determines instability in the FMR1 gene.
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| Eichler EE, et al.
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| Nat Genet 8 : 88-94. 1994
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| 74 | FMR1, FRAXA
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| Essential role for KH domains in RNA binding : impaired RNA binding by amutation in the KH domain of FMR1 that causes fragile X syndrome.
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| Siomi H, et al.
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| Cell 77 : 33-39. 1994
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| 75 | FRAXA, FMR1
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| Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate.
|
| Arinami T, et al.
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| Hum Genet 92 : 431-436. 1993
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| 76 | FMR1, FRAXA
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| Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.
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| Snow K, et al.
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| Am J Hum Genet 53 : 1217-1228. 1993
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| 77 | FRAXA, FMR1
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| Alternative splicing in the fragile X gene FMR1.
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| Verkerk AJ, et al.
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| Hum Mol Genet 2 : 399-404. 1993
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| 78 | FRAXA
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| Neurobehavioral effects of the fragile X premutation in adult women : a controlled study.
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| Reiss AL, et al.
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| Am J Hum Genet 52 : 884-894. 1993
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| 79 | FRAXA, FMR1
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| Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.
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| Wšhrle D, et al.
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| Nat Genet 4 : 140-142. 1993
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| 80 | FMR1, FRAXA
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| Association of fragile X syndrome with delayed replication of the FMR1 gene.
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| Hansen RS, et al.
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| Cell 73 : 1403-1409. 1993
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| 81 | FRAXA
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| Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.
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| Oudet C, et al.
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| Am J Hum Genet 52 : 297-304. 1993
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| 82 | FRAXA, FMR1
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| Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.
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| McConkie-Rosell A, et al.
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| Am J Hum Genet 53 : 800-809. 1993
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| 83 | FRAXA, FMR1
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| A point mutation in the FMR-1 gene associated with fragile X mental retardation.
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| De Boulle K, et al.
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| Nat Genet 3 : 31-35. 1993
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| 84 | FRAXA
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| Fragile-X syndrome : unique genetics of the heritable unstable element.
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| Yu S, et al.
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| Am J Hum Genet 50 : 968-980. 1992
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| 85 | FRAXA
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| Characterization of a highly polymorphic dinucleotide repeat 150 Kb proximal to the fragile X site.
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| Riggins GJ, et al.
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| Am J Med Genet 43 : 237-243. 1992
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| 86 | FRAXA
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| Linkage and risk assessment in fragile X families using new DNA probes at Xq27.
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| Carpenter NJ, et al.
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| Am J Med Genet 43 : 312-319. 1992
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| 87 | FRAXA
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| Carrier detection of the fragile X syndrome with flanking RFLP markers and linkage analysis.
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| VŠisŠnen ML, et al.
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| Am J Med Genet 43 : 307-311. 1992
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| 88 | FRAXA
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| A microdeletion of less than 250kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.
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| Wšhrle D, et al.
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| Am J Hum Genet 51 : 299-306. 1992
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| 89 | FRAXA, FMR1
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| Fragile-X syndrome without CCG amplification has an FMR1 deletion.
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| Gedeon AK, et al.
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| 97 | FRAXA, FMR1
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| Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
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| Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
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| 99 | FRAXA
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| Linkage homogeneity near the fragile X locus in normal and fragile X families.
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| 100 | FRAXA
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| 101 | FRAXA
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| 102 | FRAXA
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| 103 | FRAXA
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| Laser microdissection of the fragile X region allows isolation of cosmid clones containing conserved sequences.
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| 104 | FRAXA
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| 105 | FRAXA
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| A highly polymorphic dinucleotide repeat, DXS 548, is tightly linked to the fragile X site.
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| 106 | FRAXA
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| Variation of the CGG repeat at the fragile X site results in genetic instability : resolution of the Sherman paradox.
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| Cell 67 : 1047-1058. 1991
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| 107 | FRAXA
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| Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island.
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| Science 251 : 1236-1239. 1991
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| 108 | FRAXA, DXS463, DXS465
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| Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA).
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| Am J Hum Genet 48 : 108-116. 1991
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| 109 | FRAXA
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| Physical mapping across the fragile X : hypermethylation and clinical expression of the fragile X syndrome.
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| Cell 64 : 861-866. 1991
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| 110 | FRAXA
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| Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis.
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| Nature 349 : 624-626. 1991
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| Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.
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| Am J Hum Genet 48 : 460-467. 1991
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| 112 | FRAXA, DXS479, DXS532, DXS533
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| Linear order of new and established DNA markers around the fragile site at Xq27.3.
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| Genomics 10 : 243-249. 1991
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| 113 | FRAXA
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| Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage.
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| Proc Natl Acad Sci U S A 87 : 3856-3860. 1990
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| Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines.
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| Am J Hum Genet 47 : 187-195. 1990
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| 115 | DXS484, DXS486, DXS489, DXS490, DXS491, DXS492, DXS493, DXS494, DXS495, DXS496, FRAXA
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| Microdissection of the fragile X region.
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| Am J Hum Genet 47 : 181-187. 1990
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| 116 | DXS311, DXS312, FRAXA
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| Am J Hum Genet 47 : 395-402. 1990
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| 117 | FRAXA, DXS98
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| New polymorphisms at the DXS98 locus and confirmation of its location proximal to FRAXA by in situ hybridization.
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| 118 | DXS304, FRAXA
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| Isolation of a DNA probe of potential use for diagnosis of the fragile-X syndrome.
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| 119 | FRAXA
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| 120 | FRAXA
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| The polymorphic marker DXS304 is within 5 centimorgans of the fragile X locus.
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| Genomics 5 : 797-801. 1989
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| 121 | FRAXA
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| 122 | FRAXA
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| 124 | FRAXA
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| 125 | F9, FRAXA, DXS102, DXS105, DXS119, DXS152, DXS115
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| 128 | FRAXA
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| 131 | F9, FRAXA
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| 135 | FRAXA, HPRT1
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| 137 | FRAXA, DXS51
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| 138 | FRAXA, DXS51, DXS52
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| 139 | FRAXA, DXS15, DXS51, DXS52, DXS86, DXS100, DXS144
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| Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27.
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| 141 | FRAXA
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| 142 | DXS98, FRAXA
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| 143 | F8, FRAXA, G6PD
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| Detailed ordering of markers localising to the Xq26-Xqter region of the human X chromosome by the use of an interspecific Mus spretus mouse cross. Characterization of a panel of somatic cell hybrids for regional mapping of the mouse X chromosome.
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| 149 | FRAXA, FRAXB, FRAXC
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| 150 | FRAXA
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| 151 | FRAXA
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| In situ hybridisation of the sequence pXQMGRI-135;RI/dIIIg to the fragile X chromosome.
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| 155 | FRAXA, DXS19, DXS37, DXS99, DXS100
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| 156 | FRAXA, FRAXB, FRAXC, F9
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| 157 | FRAXA, DXS51
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| 158 | FRAXA
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| Genetic linkage heterogeneity in the fragile X syndrome.
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| 159 | FRAXA
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| 160 | FRAXA, F9
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| Evidence against close linkage for fra(Xq) of Martin-Bell syndrome and for factor IX.
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| 161 | FRAXA
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| 163 | F9, FRAXA
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