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Results: 1 to 20 of 148

1.

Demethylation, reactivation, and destabilization of human fragile X full-mutation alleles in mouse embryocarcinoma cells.

Wöhrle D, Salat U, Hameister H, Vogel W, Steinbach P.

Am J Hum Genet. 2001 Sep;69(3):504-15. Epub 2001 Jul 13.

PMID:
11462172
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Fully expanded FMR1 CGG repeats exhibit a length- and differentiation-dependent instability in cell hybrids that is independent of DNA methylation.

Burman RW, Popovich BW, Jacky PB, Turker MS.

Hum Mol Genet. 1999 Nov;8(12):2293-302.

PMID:
10545610
[PubMed - indexed for MEDLINE]
Free Article
4.

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA.

Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, Taylor AK, Hagerman PJ.

Am J Med Genet. 2000 Sep 18;94(3):232-6.

PMID:
10995510
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
10773084
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

Wöhrle D, Hennig I, Vogel W, Steinbach P.

Nat Genet. 1993 Jun;4(2):140-2.

PMID:
8348151
[PubMed - indexed for MEDLINE]
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
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
Free Article
9.

Postmortem examination of two fragile X brothers with an FMR1 full mutation.

Reyniers E, Martin JJ, Cras P, Van Marck E, Handig I, Jorens HZ, Oostra BA, Kooy RF, Willems PJ.

Am J Med Genet. 1999 May 28;84(3):245-9.

PMID:
10331601
[PubMed - indexed for MEDLINE]
10.

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]
11.

Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model.

Entezam A, Biacsi R, Orrison B, Saha T, Hoffman GE, Grabczyk E, Nussbaum RL, Usdin K.

Gene. 2007 Jun 15;395(1-2):125-34. Epub 2007 Mar 16.

PMID:
17442505
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL.

Hum Mol Genet. 1996 Mar;5(3):319-30.

PMID:
8852655
[PubMed - indexed for MEDLINE]
Free Article
13.

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
[PubMed - indexed for MEDLINE]
14.

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]
15.

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

Carrel L, Willard HF.

Am J Med Genet. 1996 Jul 12;64(1):27-30.

PMID:
8826444
[PubMed - indexed for MEDLINE]
16.

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families.

Steinbach P, Wöhrle D, Tariverdian G, Kennerknecht I, Barbi G, Edlinger H, Enders H, Götz-Sothmann M, Heilbronner H, Hosenfeld D, et al.

Hum Genet. 1993 Nov;92(5):491-8.

PMID:
7902319
[PubMed - indexed for MEDLINE]
17.

Analysis of unstable DNA sequence in FMR1 gene in Polish families with fragile X syndrome.

Milewski M, Zygulska M, Bal J, Deelen WH, Obersztyn E, Bocian E, Halley DJ, Horst J, Mazurczak T.

Acta Biochim Pol. 1996;43(2):383-8.

PMID:
8862184
[PubMed - indexed for MEDLINE]
Free Article
18.

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: a new case.

Orrico A, Galli L, Dotti MT, Plewnia K, Censini S, Federico A.

Am J Med Genet. 1998 Jul 24;78(4):341-4.

PMID:
9714436
[PubMed - indexed for MEDLINE]
19.

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

Toledano-Alhadef H, Basel-Vanagaite L, Magal N, Davidov B, Ehrlich S, Drasinover V, Taub E, Halpern GJ, Ginott N, Shohat M.

Am J Hum Genet. 2001 Aug;69(2):351-60. Epub 2001 Jul 6.

PMID:
11443541
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

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
[PubMed - indexed for MEDLINE]

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