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Results: 1 to 20 of 68

1.

Screening for the presence of FMR1 premutation alleles in women with fibromyalgia.

Rodriguez-Revenga L, Madrigal I, Blanch-Rubió J, Elurbe DM, Docampo E, Collado A, Vidal J, Carbonell J, Estivill X, Mila M.

Gene. 2013 Jan 10;512(2):305-8. doi: 10.1016/j.gene.2012.10.016. Epub 2012 Oct 27.

PMID:
23111161
[PubMed - indexed for MEDLINE]
2.

Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia.

Martorell L, Tondo M, Garcia-Fructuoso F, Naudo M, Alegre C, Gamez J, Genovés J, Poo P.

Clin Rheumatol. 2012 Nov;31(11):1611-5. doi: 10.1007/s10067-012-2052-y. Epub 2012 Aug 18.

PMID:
22903700
[PubMed - indexed for MEDLINE]
3.

Screening for the presence of FMR1 premutation alleles in women with parkinsonism.

Cilia R, Kraff J, Canesi M, Pezzoli G, Goldwurm S, Amiri K, Tang HT, Pan R, Hagerman PJ, Tassone F.

Arch Neurol. 2009 Feb;66(2):244-9. doi: 10.1001/archneurol.2008.548.

PMID:
19204162
[PubMed - indexed for MEDLINE]
4.

Fibromyalgia in fragile X mental retardation 1 gene premutation carriers.

Leehey MA, Legg W, Tassone F, Hagerman R.

Rheumatology (Oxford). 2011 Dec;50(12):2233-6. doi: 10.1093/rheumatology/ker273. Epub 2011 Sep 16.

PMID:
21926154
[PubMed - indexed for MEDLINE]
Free PMC Article
5.
6.

Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation.

Hessl D, Tassone F, Loesch DZ, Berry-Kravis E, Leehey MA, Gane LW, Barbato I, Rice C, Gould E, Hall DA, Grigsby J, Wegelin JA, Harris S, Lewin F, Weinberg D, Hagerman PJ, Hagerman RJ.

Am J Med Genet B Neuropsychiatr Genet. 2005 Nov 5;139B(1):115-21.

PMID:
16184602
[PubMed - indexed for MEDLINE]
7.

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V, Taub E, Halpern GJ, Ginott N, Shohat M.

Am J Hum Genet. 2001 Aug;69(2):351-60. Epub 2001 Jul 6.

PMID:
11443541
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

An assessment of screening strategies for fragile X syndrome in the UK.

Pembrey ME, Barnicoat AJ, Carmichael B, Bobrow M, Turner G.

Health Technol Assess. 2001;5(7):1-95. Review.

PMID:
11262423
[PubMed - indexed for MEDLINE]
Free Article
9.

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.

Lévesque S, Dombrowski C, Morel ML, Rehel R, Côté JS, Bussières J, Morgan K, Rousseau F.

Clin Genet. 2009 Dec;76(6):511-23. doi: 10.1111/j.1399-0004.2009.01237.x. Epub 2009 Oct 23.

PMID:
19863547
[PubMed - indexed for MEDLINE]
10.

Evaluation of the human fragile X mental retardation 1 polymerase chain reaction reagents to amplify the FMR1 gene: testing in a clinical diagnostic laboratory.

Nahhas FA, Monroe TJ, Prior TW, Botma PI, Fang J, Snyder PJ, Talbott SL, Feldman GL.

Genet Test Mol Biomarkers. 2012 Mar;16(3):187-92. doi: 10.1089/gtmb.2011.0128. Epub 2011 Oct 12.

PMID:
21992462
[PubMed - indexed for MEDLINE]
11.

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

Hantash FM, Goos DG, Tsao D, Quan F, Buller-Burckle A, Peng M, Jarvis M, Sun W, Strom CM.

Genet Med. 2010 Mar;12(3):162-73. doi: 10.1097/GIM.0b013e3181d0d40e.

PMID:
20168238
[PubMed - indexed for MEDLINE]
12.

Fragile X mental retardation 1 (FMR1) intron 1 methylation in blood predicts verbal cognitive impairment in female carriers of expanded FMR1 alleles: evidence from a pilot study.

Godler DE, Slater HR, Bui QM, Storey E, Ono MY, Gehling F, Inaba Y, Francis D, Hopper JL, Kinsella G, Amor DJ, Hagerman RJ, Loesch DZ.

Clin Chem. 2012 Mar;58(3):590-8. doi: 10.1373/clinchem.2011.177626. Epub 2012 Jan 10.

PMID:
22235103
[PubMed - indexed for MEDLINE]
Free Article
13.

Prenatal carrier testing for fragile X: counseling issues and challenges.

Musci TJ, Moyer K.

Obstet Gynecol Clin North Am. 2010 Mar;37(1):61-70, Table of Contents. doi: 10.1016/j.ogc.2010.03.004.

PMID:
20494258
[PubMed - indexed for MEDLINE]
14.

The risk of fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known fragile X families.

Geva E, Yaron Y, Shomrat R, Ben-Yehuda A, Zabari S, Peretz H, Naiman T, Yeger H, Orr-Urtreger A.

Genet Test. 2000;4(3):289-92.

PMID:
11142761
[PubMed - indexed for MEDLINE]
15.

FXTAS in spanish patients with ataxia: support for female FMR1 premutation screening.

Rodriguez-Revenga L, Gómez-Anson B, Muñoz E, Jiménez D, Santos M, Tintoré M, Martín G, Brieva L, Milà M.

Mol Neurobiol. 2007 Jun;35(3):324-8.

PMID:
17917121
[PubMed - indexed for MEDLINE]
16.

Conversion disorder in women with the FMR1 premutation.

Seritan AL, Schneider A, Olichney JM, Leehey MA, Akins RS, Hagerman RJ.

Am J Med Genet A. 2009 Nov;149A(11):2501-6. doi: 10.1002/ajmg.a.33054.

PMID:
19842197
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Penetrance of marked cognitive impairment in older male carriers of the FMR1 gene premutation.

Sévin M, Kutalik Z, Bergman S, Vercelletto M, Renou P, Lamy E, Vingerhoets FJ, Di Virgilio G, Boisseau P, Bezieau S, Pasquier L, Rival JM, Beckmann JS, Damier P, Jacquemont S.

J Med Genet. 2009 Dec;46(12):818-24. doi: 10.1136/jmg.2008.065953. Epub 2009 Jun 18.

PMID:
19542082
[PubMed - indexed for MEDLINE]
18.

Fragile X carrier screening and FMR1 allele distribution in the Japanese population.

Otsuka S, Sakamoto Y, Siomi H, Itakura M, Yamamoto K, Matumoto H, Sasaki T, Kato N, Nanba E.

Brain Dev. 2010 Feb;32(2):110-4. doi: 10.1016/j.braindev.2008.12.015. Epub 2009 Feb 10.

PMID:
19211207
[PubMed - indexed for MEDLINE]
19.

Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency.

Streuli I, Fraisse T, Ibecheole V, Moix I, Morris MA, de Ziegler D.

Fertil Steril. 2009 Aug;92(2):464-70. doi: 10.1016/j.fertnstert.2008.07.007. Epub 2008 Oct 29.

PMID:
18973899
[PubMed - indexed for MEDLINE]
20.

Indicators of anxiety and depression in women with the fragile X premutation: assessment of a clinical sample.

Lachiewicz A, Dawson D, Spiridigliozzi G, Cuccaro M, Lachiewicz M, McConkie-Rosell A.

J Intellect Disabil Res. 2010 Jul;54(7):597-610. doi: 10.1111/j.1365-2788.2010.01290.x.

PMID:
20629912
[PubMed - indexed for MEDLINE]

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