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Items: 1 to 20 of 130

1.

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation.

Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL.

Nat Genet. 1993 Aug;4(4):335-40.

PMID:
8401578
2.

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome.

Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJ, Galjaard H, Reuser AJ, Hoogeveen AT, Oostra BA.

Nature. 1993 Jun 24;363(6431):722-4.

PMID:
8515814
3.

DNA methylation represses FMR-1 transcription in fragile X syndrome.

Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST.

Hum Mol Genet. 1992 Sep;1(6):397-400.

PMID:
1301913
4.

Mental status and fragile X expression in relation to FMR-1 gene mutation.

de Vries BB, Wiegers AM, de Graaff E, Verkerk AJ, Van Hemel JO, Halley DJ, Fryns JP, Curfs LM, Niermeijer MF, Oostra BA.

Eur J Hum Genet. 1993;1(1):72-9.

PMID:
8069653
5.

Segregation of the fragile X mutation from a male with a full mutation: unusual somatic instability in the FMR-1 locus.

Kambouris M, Snow K, Thibodeau S, Bluhm D, Green M, Feldman GL.

Am J Med Genet. 1996 Aug 9;64(2):404-7.

PMID:
8844092
6.

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

Reyniers E, Vits L, De Boulle K, Van Roy B, Van Velzen D, de Graaff E, Verkerk AJ, Jorens HZ, Darby JK, Oostra B, et al.

Nat Genet. 1993 Jun;4(2):143-6.

PMID:
8348152
7.

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

Rousseau F, Robb LJ, Rouillard P, Der Kaloustian VM.

Hum Mol Genet. 1994 Jun;3(6):927-30.

PMID:
7951239
8.

A point mutation in the FMR-1 gene associated with fragile X mental retardation.

De Boulle K, Verkerk AJ, Reyniers E, Vits L, Hendrickx J, Van Roy B, Van den Bos F, de Graaff E, Oostra BA, Willems PJ.

Nat Genet. 1993 Jan;3(1):31-5.

PMID:
8490650
9.

Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.

Franke P, Leboyer M, Gänsicke M, Weiffenbach O, Biancalana V, Cornillet-Lefebre P, Croquette MF, Froster U, Schwab SG, Poustka F, Hautzinger M, Maier W.

Psychiatry Res. 1998 Aug 17;80(2):113-27.

PMID:
9754690
10.

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

Genç B, Müller-Hartmann H, Zeschnigk M, Deissler H, Schmitz B, Majewski F, von Gontard A, Doerfler W.

Nucleic Acids Res. 2000 May 15;28(10):2141-52.

11.

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.

Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Staley LW, O'Connor RA, Seydel C, Mazzocco MM, Snow K, Thibodeau SN, et al.

Am J Med Genet. 1994 Jul 15;51(4):298-308.

PMID:
7942991
12.

Prenatal diagnosis of fragile X syndrome: (CGG)n expansion and methylation of chorionic villus samples.

Castellví-Bel S, Milà M, Soler A, Carrió A, Sánchez A, Villa M, Jiménez MD, Estivill X.

Prenat Diagn. 1995 Sep;15(9):801-7.

PMID:
8559749
13.

[Detection of FMR-1 gene expression by RT-PCR].

Zheng L, Fan Y, Huang T, Zhu N, Shen Y, Wu G.

Zhongguo Yi Xue Ke Xue Yuan Xue Bao. 1995 Dec;17(6):407-11. Chinese.

PMID:
9208564
14.

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.

Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, et al.

Cell. 1991 May 31;65(5):905-14.

PMID:
1710175
15.

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

Kruyer H, Milà M, Glover G, Carbonell P, Ballesta F, Estivill X.

Am J Hum Genet. 1994 Mar;54(3):437-42.

16.

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
17.

Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad.

Bächner D, Manca A, Steinbach P, Wöhrle D, Just W, Vogel W, Hameister H, Poustka A.

Hum Mol Genet. 1993 Dec;2(12):2043-50.

PMID:
8111372
18.

In vitro DNA methylation inhibits FMR-1 promoter.

Hwu WL, Lee YM, Lee SC, Wang TR.

Biochem Biophys Res Commun. 1993 May 28;193(1):324-9.

PMID:
8503923
19.

A female compound heterozygote (pre- and full mutation) for the CGG FMR1 expansion.

Milà M, Castellví-Bel S, Giné R, Vazquez C, Badenas C, Sánchez A, Estivill X.

Hum Genet. 1996 Oct;98(4):419-21.

PMID:
8792815
20.

Fragile X syndrome: discordant levels of CGG repeat mosaicism in two brothers.

Mueller OT, Hartsfield JK Jr, Amar MJ, Gallardo LA, Kousseff BG.

Am J Med Genet. 1995 Aug 14;60(4):302-6.

PMID:
7485265

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