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Items: 18

1.

Correlation of normal-range FMR1 repeat length or genotypes and reproductive parameters.

Maslow BS, Davis S, Engmann L, Nulsen JC, Benadiva CA.

J Assist Reprod Genet. 2016 Sep;33(9):1149-55. doi: 10.1007/s10815-016-0732-2. Epub 2016 May 17.

PMID:
27189053
2.

EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.

Biancalana V, Glaeser D, McQuaid S, Steinbach P.

Eur J Hum Genet. 2015 Apr;23(4):417-25. doi: 10.1038/ejhg.2014.185. Epub 2014 Sep 17.

3.

The FMR1 gene, infertility, and reproductive decision-making: a review.

Pastore LM, Johnson J.

Front Genet. 2014 Jul 7;5:195. doi: 10.3389/fgene.2014.00195. eCollection 2014. Review.

4.

In the Gray Zone in the Fragile X Gene: What are the Key Unanswered Clinical and Biological Questions?

Hall DA.

Tremor Other Hyperkinet Mov (N Y). 2014 Jun 5;4:208. doi: 10.7916/D8NG4NP3. eCollection 2014.

5.

Attitudes towards potentially carrying the FMR1 premutation: before vs after testing of non-carrier females with diminished ovarian reserve.

Pastore LM, Antero M, Ventura K, Penberthy JK, Thomas SA, Karns LB.

J Genet Couns. 2014 Dec;23(6):968-75. doi: 10.1007/s10897-014-9717-4. Epub 2014 May 3.

6.

Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population.

Martyn M, Anderson V, Archibald A, Carter R, Cohen J, Delatycki M, Donath S, Emery J, Halliday J, Hill M, Sheffield L, Slater H, Tassone F, Younie S, Metcalfe S.

BMJ Open. 2013 Sep 10;3(9):e003660. doi: 10.1136/bmjopen-2013-003660.

7.

FMR1 CGG expansions: prevalence and sex ratios.

Maenner MJ, Baker MW, Broman KW, Tian J, Barnes JK, Atkins A, McPherson E, Hong J, Brilliant MH, Mailick MR.

Am J Med Genet B Neuropsychiatr Genet. 2013 Jul;162B(5):466-73. doi: 10.1002/ajmg.b.32176. Epub 2013 Jun 5.

8.

Fragile x-associated tremor ataxia syndrome: the expanding clinical picture, pathophysiology, epidemiology, and update on treatment.

Hall DA, O'keefe JA.

Tremor Other Hyperkinet Mov (N Y). 2012;2. pii: tre-02-56-352-1. doi: 10.7916/D8HD7TDS. Epub 2012 May 11.

9.

PAK in Alzheimer disease, Huntington disease and X-linked mental retardation.

Ma QL, Yang F, Frautschy SA, Cole GM.

Cell Logist. 2012 Apr 1;2(2):117-125.

10.

Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.

Ames AG, Jaques A, Ukoumunne OC, Archibald AD, Duncan RE, Emery J, Metcalfe SA.

Health Expect. 2015 Feb;18(1):69-80. doi: 10.1111/hex.12009. Epub 2012 Oct 15.

11.

Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.

Peprah E.

Ann Hum Genet. 2012 Mar;76(2):178-91. doi: 10.1111/j.1469-1809.2011.00694.x. Epub 2011 Dec 21. Review.

12.

Fragile X-associated tremor ataxia syndrome in FMR1 gray zone allele carriers.

Hall D, Tassone F, Klepitskaya O, Leehey M.

Mov Disord. 2012 Feb;27(2):296-300. doi: 10.1002/mds.24021. Epub 2011 Dec 11.

13.

The fragile x mental retardation syndrome 20 years after the FMR1 gene discovery: an expanding universe of knowledge.

Rousseau F, Labelle Y, Bussières J, Lindsay C.

Clin Biochem Rev. 2011 Aug;32(3):135-62.

14.

A novel assay for evaluating fragile X locus repeats.

Adler K, Moore JK, Filippov G, Wu S, Carmichael J, Schermer M.

J Mol Diagn. 2011 Nov;13(6):614-20. doi: 10.1016/j.jmoldx.2011.06.002. Epub 2011 Jul 26.

15.

Predictors and risk model development for menopausal age in fragile X premutation carriers.

Spath MA, Feuth TB, Smits AP, Yntema HG, Braat DD, Thomas CM, van Kessel AG, Sherman SL, Allen EG.

Genet Med. 2011 Jul;13(7):643-50. doi: 10.1097/GIM.0b013e31821705e5.

16.

Intra-individual stability over time of standardized anti-Mullerian hormone in FMR1 premutation carriers.

Spath MA, Feuth TB, Allen EG, Smits AP, Yntema HG, van Kessel AG, Braat DD, Sherman SL, Thomas CM.

Hum Reprod. 2011 Aug;26(8):2185-91. doi: 10.1093/humrep/der146. Epub 2011 May 15.

17.

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency.

Jacquemont S, Birnbaum S, Redler S, Steinbach P, Biancalana V.

Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.55. Epub 2011 May 4. No abstract available.

18.

A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.

Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, Hagerman PJ, Stenzel TT, Hadd AG, Latham GJ, Tassone F.

Clin Chem. 2010 Mar;56(3):399-408. doi: 10.1373/clinchem.2009.136101. Epub 2010 Jan 7.

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