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Items: 1 to 20 of 109

1.

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
2.

FMR1 and the continuum of primary ovarian insufficiency.

Sullivan SD, Welt C, Sherman S.

Semin Reprod Med. 2011 Jul;29(4):299-307. doi: 10.1055/s-0031-1280915. Epub 2011 Oct 3. Review.

PMID:
21969264
3.

Fragile X analysis of 1112 prenatal samples from 1991 to 2010.

Nolin SL, Glicksman A, Ding X, Ersalesi N, Brown WT, Sherman SL, Dobkin C.

Prenat Diagn. 2011 Oct;31(10):925-31. doi: 10.1002/pd.2815. Epub 2011 Jun 30.

PMID:
21717484
4.

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.

5.

High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.

Chen L, Hadd AG, Sah S, Houghton JF, Filipovic-Sadic S, Zhang W, Hagerman PJ, Tassone F, Latham GJ.

Genet Med. 2011 Jun;13(6):528-38. doi: 10.1097/GIM.0b013e31820a780f.

6.

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

Hawkins M, Boyle J, Wright KE, Elles R, Ramsden SC, O'Grady A, Sweeney M, Barton DE, Burgess T, Moore M, Burns C, Stacey G, Gray E, Metcalfe P, Hawkins JR.

Eur J Hum Genet. 2011 Jan;19(1):10-7. doi: 10.1038/ejhg.2010.135. Epub 2010 Aug 25. Erratum in: Eur J Hum Genet. 2013 Apr;21(4):478.

7.

Group I metabotropic glutamate receptor signalling and its implication in neurological disease.

Ribeiro FM, Paquet M, Cregan SP, Ferguson SS.

CNS Neurol Disord Drug Targets. 2010 Nov;9(5):574-95. Review.

PMID:
20632969
8.

An information-rich CGG repeat primed PCR that detects the full range of fragile X expanded alleles and minimizes the need for southern blot analysis.

Chen L, Hadd A, Sah S, Filipovic-Sadic S, Krosting J, Sekinger E, Pan R, Hagerman PJ, Stenzel TT, Tassone F, Latham GJ.

J Mol Diagn. 2010 Sep;12(5):589-600. doi: 10.2353/jmoldx.2010.090227. Epub 2010 Jul 8.

9.

Aging in fragile X syndrome.

Utari A, Adams E, Berry-Kravis E, Chavez A, Scaggs F, Ngotran L, Boyd A, Hessl D, Gane LW, Tassone F, Tartaglia N, Leehey MA, Hagerman RJ.

J Neurodev Disord. 2010 Jun;2(2):70-76. Epub 2010 May 12.

10.

Clinical involvement in daughters of men with fragile X-associated tremor ataxia syndrome.

Chonchaiya W, Nguyen DV, Au J, Campos L, Berry-Kravis EM, Lohse K, Mu Y, Utari A, Hervey C, Wang L, Sorensen P, Cook K, Gane L, Tassone F, Hagerman RJ.

Clin Genet. 2010 Jul;78(1):38-46. doi: 10.1111/j.1399-0004.2010.01448.x. Epub 2010 Apr 14.

11.

A simple, high-throughput assay for Fragile X expanded alleles using triple repeat primed PCR and capillary electrophoresis.

Lyon E, Laver T, Yu P, Jama M, Young K, Zoccoli M, Marlowe N.

J Mol Diagn. 2010 Jul;12(4):505-11. doi: 10.2353/jmoldx.2010.090229. Epub 2010 Apr 29.

12.

Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.

Bennett CE, Conway GS, Macpherson JN, Jacobs PA, Murray A.

Hum Reprod. 2010 May;25(5):1335-8. doi: 10.1093/humrep/deq058. Epub 2010 Mar 13.

13.

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
14.
15.

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.

16.

Fragile X: a family of disorders.

Chonchaiya W, Schneider A, Hagerman RJ.

Adv Pediatr. 2009;56:165-86. doi: 10.1016/j.yapd.2009.08.008. Review. No abstract available.

17.

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.

Am J Hum Genet. 2009 Oct;85(4):503-14. doi: 10.1016/j.ajhg.2009.09.007.

18.

Fragile X syndrome: from molecular genetics to therapy.

D'Hulst C, Kooy RF.

J Med Genet. 2009 Sep;46(9):577-84. doi: 10.1136/jmg.2008.064667. Review.

PMID:
19724010
19.

Expansion of an FMR1 grey-zone allele to a full mutation in two generations.

Fernandez-Carvajal I, Lopez Posadas B, Pan R, Raske C, Hagerman PJ, Tassone F.

J Mol Diagn. 2009 Jul;11(4):306-10. doi: 10.2353/jmoldx.2009.080174. Epub 2009 Jun 12.

20.

A review of fragile X premutation disorders: expanding the psychiatric perspective.

Bourgeois JA, Coffey SM, Rivera SM, Hessl D, Gane LW, Tassone F, Greco C, Finucane B, Nelson L, Berry-Kravis E, Grigsby J, Hagerman PJ, Hagerman RJ.

J Clin Psychiatry. 2009 Jun;70(6):852-62. doi: 10.4088/JCP.08m04476. Epub 2009 May 5. Review.

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