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Results: 1 to 20 of 92

1.

Mutational Analyses of the FMR1 Gene in Chinese Pediatric Population of Fragile X Suspects: Low Tolerance for Point Mutation.

Luo S, Huang W, Xia Q, Du Q, Wu L, Duan R.

J Child Neurol. 2014 Jun 23. pii: 0883073814538508. [Epub ahead of print]

PMID:
24963073
[PubMed - as supplied by publisher]
2.

FMR1-Related Disorders.

Saul RA, Tarleton JC.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
1998 Jun 16 [updated 2012 Apr 26].

PMID:
20301558
[PubMed]
Books & Documents
3.

Fragile X syndrome and deletions in FMR1: new case and review of the literature.

Hammond LS, Macias MM, Tarleton JC, Shashidhar Pai G.

Am J Med Genet. 1997 Nov 12;72(4):430-4. Review.

PMID:
9375726
[PubMed - indexed for MEDLINE]
4.

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 Aug 27. pii: S0890-8508(14)00042-5. doi: 10.1016/j.mcp.2014.08.003. [Epub ahead of print]

PMID:
25171808
[PubMed - as supplied by publisher]
5.

Mosaicism for an FMR1 gene deletion in a fragile X female.

Fan H, Booker JK, McCandless SE, Shashi V, Fleming A, Farber RA.

Am J Med Genet A. 2005 Jul 15;136(2):214-7.

PMID:
15940701
[PubMed - indexed for MEDLINE]
6.

A nonsense mutation in FMR1 causing fragile X syndrome.

Grønskov K, Brøndum-Nielsen K, Dedic A, Hjalgrim H.

Eur J Hum Genet. 2011 Apr;19(4):489-91. doi: 10.1038/ejhg.2010.223. Epub 2011 Jan 26.

PMID:
21267007
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
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.

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.

Milà M, Castellví-Bel S, Sánchez A, Lázaro C, Villa M, Estivill X.

J Med Genet. 1996 Apr;33(4):338-40.

PMID:
8730293
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.

Sheridan SD, Theriault KM, Reis SA, Zhou F, Madison JM, Daheron L, Loring JF, Haggarty SJ.

PLoS One. 2011;6(10):e26203. doi: 10.1371/journal.pone.0026203. Epub 2011 Oct 12.

PMID:
22022567
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations.

Grønskov K, Hallberg A, Brøndum-Nielsen K.

Hum Genet. 1998 Apr;102(4):440-5.

PMID:
9600241
[PubMed - indexed for MEDLINE]
12.

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients.

Grasso M, Faravelli F, Lo Nigro C, Chiurazzi P, Sperandeo MP, Argusti A, Pomponi MG, Lecora M, Sebastio GF, Perroni L, Andria G, Neri G, Bricarelli FD.

Am J Med Genet. 1999 Jul 30;85(3):311-6.

PMID:
10398249
[PubMed - indexed for MEDLINE]
13.

Fragile X syndrome due to a missense mutation.

Myrick LK, Nakamoto-Kinoshita M, Lindor NM, Kirmani S, Cheng X, Warren ST.

Eur J Hum Genet. 2014 Oct;22(10):1185-9. doi: 10.1038/ejhg.2013.311. Epub 2014 Jan 22.

PMID:
24448548
[PubMed - in process]
14.

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
[PubMed - indexed for MEDLINE]
15.

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.

Quan F, Zonana J, Gunter K, Peterson KL, Magenis RE, Popovich BW.

Am J Hum Genet. 1995 May;56(5):1042-51.

PMID:
7726157
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients.

de Graaff E, Rouillard P, Willems PJ, Smits AP, Rousseau F, Oostra BA.

Hum Mol Genet. 1995 Jan;4(1):45-9.

PMID:
7711733
[PubMed - indexed for MEDLINE]
17.

Screening with the FMR1 protein test among mentally retarded males.

de Vries BB, Mohkamsing S, van den Ouweland AM, Halley DJ, Niermeijer MF, Oostra BA, Willemsen R.

Hum Genet. 1998 Oct;103(4):520-2.

PMID:
9856500
[PubMed - indexed for MEDLINE]
18.

FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing.

Gasteiger M, Grasbon-Frodl E, Neitzel B, Kooy F, Holinski-Feder E.

Genet Test. 2003 Winter;7(4):303-8.

PMID:
15000806
[PubMed - indexed for MEDLINE]
19.

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

Chiurazzi P, de Graaff E, Ng J, Verkerk AJ, Wolfson S, Fisch GS, Kozak L, Neri G, Oostra BA.

Am J Med Genet. 1994 Jul 15;51(4):309-14.

PMID:
7942992
[PubMed - indexed for MEDLINE]
20.

Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome.

Pastori C, Peschansky VJ, Barbouth D, Mehta A, Silva JP, Wahlestedt C.

Hum Genet. 2014 Jan;133(1):59-67. doi: 10.1007/s00439-013-1356-6. Epub 2013 Sep 5.

PMID:
24005575
[PubMed - indexed for MEDLINE]
Free PMC Article

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