Citations for
1FMR1, FXPOF
Women who carry a fragile X premutation are biologically older than noncarriers as measured by telomere length.
Albizua I, Rambo-Martin BL, Allen EG, He W, Amin AS, Sherman SL.
Am J Med Genet A m J Med Genet A. 2017 Sep 21. doi: 10.1002/ajmg.a.38476. [Epub ahead of print] 2017
2FRAXA, FXPOF, FXTAS
The FRAXopathies: definition, overview, and update.
Pirozzi F, Tabolacci E, Neri G.
Am J Med Genet A 155A(8):1803-16. doi: 10.1002/ajmg.a.34113. Epub 2011 Jul 7. 2011
3FRAXA, FXPOF
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
4FMR1, FXPOF
Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.
Van Esch H, Buekenhout L, Race V, Matthijs G.
Eur J Med Genet 52(1):37-40. Epub 2008 Nov 17. 2009
5FMR1, FXPOF, FXTAS
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families.
Rodriguez-Revenga L, Madrigal I, Pagonabarraga J, Xunclà M, Badenas C, Kulisevsky J, Gomez B, Milà M.
Eur J Hum Genet 17(10):1359-62. Epub 2009 Apr 15. 2009
6FRAXA, FXPOF, FXTAS
The Fragile X premutation: new insights and clinical consequences.
Van Esch H.
Eur J Med Genet 49(1):1-8. Epub 2005 Dec 5. 2006
7FRAXA, FXPOF
Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers.
Ennis S, Ward D, Murray A.
Eur J Hum Genet 14(2):253-5. 2006
8FRAXA, FXPOF
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.
Hum Reprod 21(4):952-7. Epub 2005 Dec 16. 2006
9FMR1, FXPOF
Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure.
Hundscheid RD, Smits AP, Thomas CM, Kiemeney LA, Braat DD.
Am J Med Genet A 117A(1):6-9.PMID: 12548733 2003
10FRAXA, FXPOF
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.
Am J Med Genet 84(3):300-3. 1999
11AFF2, FRAXE, FXPOF
Microdeletions in FMR2 may be a significant cause of premature ovarian failure.
Murray A, Webb J, Dennis N, Conway G, Morton N.
J Med Genet 36(10):767-70. 1999
12AFF2, FMR1, FXPOF
Studies of FRAXA and FRAXE in women with premature ovarian failure.
Murray A, Webb J, Grimley S, Conway G, Jacobs P.
J Med Genet 35(8):637-40. 1998