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Items: 1 to 20 of 88

1.

The unstable and methylatable mutations causing the fragile X syndrome.

Rousseau F, Heitz D, Mandel JL.

Hum Mutat. 1992;1(2):91-6. Review. No abstract available.

PMID:
1301206
2.

Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families.

Hori T, Yamauchi M, Seki N, Tsuji S, Kondo I.

Clin Genet. 1993 Jan;43(1):34-8.

PMID:
8462194
3.

Evidence of founder chromosomes in fragile X syndrome.

Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT, Goonewardena P, Tarleton J, Schwartz C, et al.

Nat Genet. 1992 Jul;1(4):257-60.

PMID:
1302021
4.

[Unstable DNA sequence and methylation in fragile X syndrome].

Fu SD, Shen Y, Fan Y.

Zhonghua Yi Xue Za Zhi. 1994 Oct;74(10):611-4, 646-7. Chinese.

PMID:
7842338
5.

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
6.

Cytogenetic and molecular analysis of dynamic mutation associated with fragile X syndrome.

Seki N, Ishikiriyama S, Yamauchi M, Hori T.

Jpn J Genet. 1994 Jun;69(3):259-67.

7.

[DNA diagnosis of fragile X syndrome in a family. A new type of heredity--dynamic mutations].

Eiken HG, Boman H, Apold J.

Tidsskr Nor Laegeforen. 1993 Oct 30;113(26):3236-9. Norwegian.

PMID:
8236216
8.

Fragile-X syndrome: unique genetics of the heritable unstable element.

Yu S, Mulley J, Loesch D, Turner G, Donnelly A, Gedeon A, Hillen D, Kremer E, Lynch M, Pritchard M, et al.

Am J Hum Genet. 1992 May;50(5):968-80.

9.

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation.

Snow K, Tester DJ, Kruckeberg KE, Schaid DJ, Thibodeau SN.

Hum Mol Genet. 1994 Sep;3(9):1543-51.

PMID:
7833909
10.

Epigenetic inheritance based on DNA methylation.

Holliday R.

EXS. 1993;64:452-68. Review. No abstract available.

PMID:
8418955
11.

[Pathology of unstable sequence of genome: fragile-X-syndrome].

Beldjord C, Richard L.

C R Seances Soc Biol Fil. 1992;186(4):363-70. Review. French.

PMID:
1301224
12.

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
13.

Concerning the role of X-inactivation and DNA methylation in fragile X syndrome.

Migeon BR.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):291-8. Review.

PMID:
1605203
14.

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation.

Knight SJ, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, et al.

Cell. 1993 Jul 16;74(1):127-34.

PMID:
8334699
15.

Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox.

Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick RG Jr, Warren ST, et al.

Cell. 1991 Dec 20;67(6):1047-58.

PMID:
1760838
16.

Polymerase chain reaction analysis of fragile X mutations.

Erster SH, Brown WT, Goonewardena P, Dobkin CS, Jenkins EC, Pergolizzi RG.

Hum Genet. 1992 Sep-Oct;90(1-2):55-61.

PMID:
1427787
17.

Heritable unstable DNA sequences.

Richards RI, Sutherland GR.

Nat Genet. 1992 Apr;1(1):7-9. No abstract available.

PMID:
1302002
18.

[Last advances in Fragile X chromosome syndrome].

Bañares VG.

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

PMID:
8728777
19.

Fragile X syndrome and other dynamic mutation diseases.

Sutherland GR, Richards RI.

Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:77-85. Review. No abstract available.

PMID:
8629146
20.

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes.

van den Ouweland AM, Deelen WH, Kunst CB, Uzielli ML, Nelson DL, Warren ST, Oostra BA, Halley DJ.

Hum Mol Genet. 1994 Oct;3(10):1823-7.

PMID:
7849707

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