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Items: 1 to 20 of 90

1.

Enhanced Fmr-1 expression in testis.

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

Nat Genet. 1993 Jun;4(2):115-6. No abstract available.

PMID:
8348147
2.

Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.

Hinds HL, Ashley CT, Sutcliffe JS, Nelson DL, Warren ST, Housman DE, Schalling M.

Nat Genet. 1993 Jan;3(1):36-43. Erratum in: Nat Genet 1993 Nov;5(3):312.

PMID:
8490651
3.

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
4.

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
5.

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.

Abitbol M, Menini C, Delezoide AL, Rhyner T, Vekemans M, Mallet J.

Nat Genet. 1993 Jun;4(2):147-53.

PMID:
8348153
6.

Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis.

Tamanini F, Willemsen R, van Unen L, Bontekoe C, Galjaard H, Oostra BA, Hoogeveen AT.

Hum Mol Genet. 1997 Aug;6(8):1315-22.

7.

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
8.
9.

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
10.

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
11.

Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice.

Hergersberg M, Matsuo K, Gassmann M, Schaffner W, Lüscher B, Rülicke T, Aguzzi A.

Hum Mol Genet. 1995 Mar;4(3):359-66.

PMID:
7795588
12.

Transgenic mouse model for the fragile X syndrome.

Kooy RF, D'Hooge R, Reyniers E, Bakker CE, Nagels G, De Boulle K, Storm K, Clincke G, De Deyn PP, Oostra BA, Willems PJ.

Am J Med Genet. 1996 Aug 9;64(2):241-5.

PMID:
8844056
13.

Animal model for fragile X syndrome.

Oostra BA, Hoogeveen AT.

Ann Med. 1997 Dec;29(6):563-7. Review.

PMID:
9562525
14.

[Analysis of expression of FMR-1 gene in male patients with fragile X syndrome using RT-PCR].

Zhu W, Li M, Zhao Y.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 1998 Feb 10;15(1):17-9. Chinese.

PMID:
9456366
15.

Preimplantation diagnosis for fragile X syndrome based on the detection of the non-expanded paternal and maternal CGG.

Sermon K, Seneca S, Vanderfaeillie A, Lissens W, Joris H, Vandervorst M, Van Steirteghem A, Liebaers I.

Prenat Diagn. 1999 Dec;19(13):1223-30.

PMID:
10660959
16.

[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
17.

[Last advances in Fragile X chromosome syndrome].

Bañares VG.

Medicina (B Aires). 1995;55(5 Pt 1):457-66. Review. Spanish.

PMID:
8728777
18.

Clinical conundrums in fragile X syndrome.

Hagerman R.

Nat Genet. 1992 Jun;1(3):157-8. No abstract available.

PMID:
1303227
19.

Sixth international workshop on the fragile X and X-linked mental retardation.

Sutherland GR, Brown WT, Hagerman R, Jenkins E, Lubs H, Mandel JL, Nelson D, Neri G, Partington MW, Richards RI, et al.

Am J Med Genet. 1994 Jul 15;51(4):281-93. No abstract available.

PMID:
7942989
20.

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
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