1 | FMR1, FXPOF
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| Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
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| Albizua I, Rambo-Martin BL, Allen EG, He W, Amin AS, Sherman SL.
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| Am J Med Genet A m J Med Genet A. 2017 Sep 21. doi: 10.1002/ajmg.a.38476. [Epub ahead of print]
2017
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2 | FRAXA, FXPOF, FXTAS
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| The FRAXopathies: definition, overview, and update.
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| 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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3 | FRAXA, FXPOF
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| X chromosome inactivation does not define the development of premature ovarian failure in fragile X premutation carriers.
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| Spath MA, Nillesen WN, Smits AP, Feuth TB, Braat DD, van Kessel AG, Yntema HG.
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| Am J Med Genet A 152A(2):387-93.PMID: 20101683 2010
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4 | FMR1, FXPOF
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| Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.
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| Van Esch H, Buekenhout L, Race V, Matthijs G.
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| Eur J Med Genet 52(1):37-40. Epub 2008 Nov 17. 2009
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5 | FMR1, FXPOF, FXTAS
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| Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.
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| Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xunclà M, Badenas C, Kulisevsky J, Gomez B, Milà M.
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| Eur J Hum Genet 17(10):1359-62. Epub 2009 Apr 15. 2009
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6 | FRAXA, FXPOF, FXTAS
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| The Fragile X premutation: new insights and clinical consequences.
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| Van Esch H.
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| Eur J Med Genet 49(1):1-8. Epub 2005 Dec 5. 2006
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7 | FRAXA, FXPOF
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| Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers.
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| Ennis S, Ward D, Murray A.
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| Eur J Hum Genet 14(2):253-5. 2006
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8 | FRAXA, FXPOF
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| Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation.
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| 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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9 | FMR1, FXPOF
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| Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure.
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| Hundscheid RD, Smits AP, Thomas CM, Kiemeney LA, Braat DD.
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| Am J Med Genet A 117A(1):6-9.PMID: 12548733 2003
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10 | 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.
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| Uzielli ML, et al.
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| Am J Med Genet 84(3):300-3. 1999
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11 | 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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12 | 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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