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Items: 1 to 20 of 70

1.

A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development.

Hanzlik AJ, Osemlak-Hanzlik MM, Hauser MA, Kurnit DM.

Nat Genet. 1993 Jan;3(1):44-8.

PMID:
8490653
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.

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
4.

Epigenetic variation illustrated by DNA methylation patterns of the fragile-X gene FMR1.

Stöger R, Kajimura TM, Brown WT, Laird CD.

Hum Mol Genet. 1997 Oct;6(11):1791-801.

PMID:
9302255
5.

Reduced mRNA for G3BP in fragile X cells: evidence of FMR1 gene regulation.

Zhong N, Ju W, Nelson D, Dobkin C, Brown WT.

Am J Med Genet. 1999 May 28;84(3):268-71.

PMID:
10331605
6.

DNA testing for fragile X syndrome in 255 males from special schools in Singapore.

Tan BS, Law HY, Zhao Y, Yoon CS, Ng IS.

Ann Acad Med Singapore. 2000 Mar;29(2):207-12.

PMID:
10895341
7.

Deletion in the FMR1 gene in a fragile-X male.

Mannermaa A, Pulkkinen L, Kajanoja E, Ryynänen M, Saarikoski S.

Am J Med Genet. 1996 Aug 9;64(2):293-5.

PMID:
8844068
8.

The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells.

de Graaff E, de Vries BB, Willemsen R, van Hemel JO, Mohkamsing S, Oostra BA, van den Ouweland AM.

Am J Med Genet. 1996 Aug 9;64(2):302-8.

PMID:
8844070
9.
10.

A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males.

Haddad LA, Mingroni-Netto RC, Vianna-Morgante AM, Pena SD.

Hum Genet. 1996 Jun;97(6):808-12.

PMID:
8641701
11.

FMRP detection assay for the diagnosis of the fragile X syndrome.

Willemsen R, Oostra BA.

Am J Med Genet. 2000 Fall;97(3):183-8. Review.

PMID:
11449486
12.

Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism.

Quan F, Grompe M, Jakobs P, Popovich BW.

Hum Mol Genet. 1995 Sep;4(9):1681-4. No abstract available.

PMID:
8541863
13.

Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function.

Darnell JC, Jensen KB, Jin P, Brown V, Warren ST, Darnell RB.

Cell. 2001 Nov 16;107(4):489-99.

14.

DNA panel for interlaboratory standardization of haplotype studies on the fragile X syndrome and proposal for a new allele nomenclature.

Chiurazzi P, Pomponi MG, Sharrock A, Macpherson J, Lormeau S, Morel ML, Rousseau F.

Am J Med Genet. 1999 Apr 2;83(4):347-9. No abstract available.

PMID:
10208178
15.

A methylation PCR approach for detection of fragile X syndrome.

Panagopoulos I, Lassen C, Kristoffersson U, Aman P.

Hum Mutat. 1999;14(1):71-9.

PMID:
10447261
16.

Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene.

Petek E, Kroisel PM, Schuster M, Zierler H, Wagner K.

Am J Med Genet. 1999 May 28;84(3):229-32.

PMID:
10331598
17.

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
18.

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression.

Grønskov K, Hjalgrim H, Bjerager MO, Brøndum-Nielsen K.

Am J Hum Genet. 1997 Oct;61(4):961-7.

19.

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
20.

[Diagnosis of Martin-Bell syndrome based on an analysis of the structural-functional changes in the 5'-untranslated region of the FMR1 gene].

Strel'nikov VV, Nemtsova MV, Chesnokova GG, Kuleshov NP, Zaletaev DV.

Mol Biol (Mosk). 1999 Mar-Apr;33(2):330-6. Russian. No abstract available.

PMID:
10377581

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