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Items: 1 to 20 of 75

1.

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

Collins SC, Bray SM, Suhl JA, Cutler DJ, Coffee B, Zwick ME, Warren ST.

Am J Med Genet A. 2010 Oct;152A(10):2512-20. doi: 10.1002/ajmg.a.33626.

2.

Point mutation frequency in the FMR1 gene as revealed by fragile X syndrome screening.

Handt M, Epplen A, Hoffjan S, Mese K, Epplen JT, Dekomien G.

Mol Cell Probes. 2014 Oct-Dec;28(5-6):279-83. doi: 10.1016/j.mcp.2014.08.003. Epub 2014 Aug 27.

PMID:
25171808
3.

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.

Collins SC, Coffee B, Benke PJ, Berry-Kravis E, Gilbert F, Oostra B, Halley D, Zwick ME, Cutler DJ, Warren ST.

PLoS One. 2010 Mar 5;5(3):e9476. doi: 10.1371/journal.pone.0009476.

4.

FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.

Sølvsten C, Nielsen AL.

Gene. 2011 Oct 15;486(1-2):15-22. doi: 10.1016/j.gene.2011.06.034. Epub 2011 Jul 13.

PMID:
21767618
5.
6.

Cerebral protein synthesis in a knockin mouse model of the fragile X premutation.

Qin M, Huang T, Liu Z, Kader M, Burlin T, Xia Z, Zeidler Z, Hukema RK, Smith CB.

ASN Neuro. 2014 Sep 23;6(5). pii: 1759091414551957. doi: 10.1177/1759091414551957. Print 2014.

7.

Transcription of the FMR1 gene in individuals with fragile X syndrome.

Tassone F, Hagerman RJ, Chamberlain WD, Hagerman PJ.

Am J Med Genet. 2000 Fall;97(3):195-203.

PMID:
11449488
8.

Redistribution of transcription start sites within the FMR1 promoter region with expansion of the downstream CGG-repeat element.

Beilina A, Tassone F, Schwartz PH, Sahota P, Hagerman PJ.

Hum Mol Genet. 2004 Mar 1;13(5):543-9. Epub 2004 Jan 13.

PMID:
14722156
9.

A novel polymorphism in the FMR1 gene: implications for clinical testing of fragile X syndrome.

Thyagarajan B, Bower M, Berger M, Jones S, Dolan M, Wang X.

Arch Pathol Lab Med. 2008 Jan;132(1):95-8. doi: 10.1043/1543-2165(2008)132[95:ANPITF]2.0.CO;2.

PMID:
18181681
10.

A homogeneous assay for analysis of FMR1 promoter methylation in patients with fragile X syndrome.

Dahl C, Grønskov K, Larsen LA, Guldberg P, Brøndum-Nielsen K.

Clin Chem. 2007 Apr;53(4):790-3. Epub 2007 Jan 26.

11.

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.

12.

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
13.
14.

Examination of FMR1 transcript and protein levels among 74 premutation carriers.

Peprah E, He W, Allen E, Oliver T, Boyne A, Sherman SL.

J Hum Genet. 2010 Jan;55(1):66-8. doi: 10.1038/jhg.2009.121. Epub 2009 Nov 20.

15.

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.

Meijer H, de Graaff E, Merckx DM, Jongbloed RJ, de Die-Smulders CE, Engelen JJ, Fryns JP, Curfs PM, Oostra BA.

Hum Mol Genet. 1994 Apr;3(4):615-20.

PMID:
8069307
16.

Molecular diagnosis of fragile X syndrome using methylation sensitive techniques in a cohort of patients with intellectual disability.

Chaudhary AG, Hussein IR, Abuzenadah A, Gari M, Bassiouni R, Sogaty S, Lary S, Al-Quaiti M, Al Balwi M, Al Qahtani M.

Pediatr Neurol. 2014 Apr;50(4):368-76. doi: 10.1016/j.pediatrneurol.2013.11.020. Epub 2013 Dec 4.

PMID:
24630283
17.

Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene.

Loomis EW, Eid JS, Peluso P, Yin J, Hickey L, Rank D, McCalmon S, Hagerman RJ, Tassone F, Hagerman PJ.

Genome Res. 2013 Jan;23(1):121-8. doi: 10.1101/gr.141705.112. Epub 2012 Oct 11.

18.

Linking the FMR1 alleles with small CGG expansions with neurodevelopmental disorders: preliminary data suggest an involvement of epigenetic mechanisms.

Loesch DZ, Godler DE, Khaniani M, Gould E, Gehling F, Dissanayake C, Burgess T, Tassone F, Huggins R, Slater H, Choo KH.

Am J Med Genet A. 2009 Oct;149A(10):2306-10. doi: 10.1002/ajmg.a.32990. No abstract available.

19.

Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan.

Fatima T, Zaidi SA, Sarfraz N, Perween S, Khurshid F, Imtiaz F.

Am J Med Genet A. 2014 May;164A(5):1151-61. doi: 10.1002/ajmg.a.36423. Epub 2014 Jan 29.

PMID:
24478267
20.

The role of AGG interruptions in the transcription of FMR1 premutation alleles.

Yrigollen CM, Tassone F, Durbin-Johnson B, Tassone F.

PLoS One. 2011;6(7):e21728. doi: 10.1371/journal.pone.0021728. Epub 2011 Jul 19.

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