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Items: 1 to 20 of 146

1.

A complex mutable polymorphism located within the fragile X gene.

Zhong N, Dobkin C, Brown WT.

Nat Genet. 1993 Nov;5(3):248-53.

PMID:
8275089
2.

Fragile X founder chromosome effects: linkage disequilibrium or microsatellite heterogeneity?

Zhong N, Ye L, Dobkin C, Brown WT.

Am J Med Genet. 1994 Jul 15;51(4):405-11.

PMID:
7943008
3.

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
4.

Striking founder effect for the fragile X syndrome in Finland.

Oudet C, von Koskull H, Nordström AM, Peippo M, Mandel JL.

Eur J Hum Genet. 1993;1(3):181-9.

PMID:
8044645
5.

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.

Oudet C, Mornet E, Serre JL, Thomas F, Lentes-Zengerling S, Kretz C, Deluchat C, Tejada I, Boué J, Boué A, et al.

Am J Hum Genet. 1993 Feb;52(2):297-304.

6.

Distribution of FMR-1 and associated microsatellite alleles in a normal Chinese population.

Zhong N, Liu X, Gou S, Houck GE Jr, Li S, Dobkin C, Brown WT.

Am J Med Genet. 1994 Jul 15;51(4):417-22.

PMID:
7943010
7.

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
8.
9.

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.

Richards RI, Holman K, Kozman H, Kremer E, Lynch M, Pritchard M, Yu S, Mulley J, Sutherland GR.

J Med Genet. 1991 Dec;28(12):818-23.

10.

Fragile X founder effects and new mutations in Finland.

Zhong N, Kajanoja E, Smits B, Pietrofesa J, Curley D, Wang D, Ju W, Nolin S, Dobkin C, Ryynänen M, Brown WT.

Am J Med Genet. 1996 Jul 12;64(1):226-33.

PMID:
8826481
11.

Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus.

Syrrou M, Patsalis PC, Georgiou I, Hadjimarcou MI, Constantinou-Deltas CD, Pagoulatos G.

Am J Med Genet. 1996 Jul 12;64(1):234-8.

PMID:
8826482
12.

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.

Richards RI, Shen Y, Holman K, Kozman H, Hyland VJ, Mulley JC, Sutherland GR.

Am J Hum Genet. 1991 Jun;48(6):1051-7.

13.

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
14.

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site.

Riggins GJ, Sherman SL, Oostra BA, Sutcliffe JS, Feitell D, Nelson DL, van Oost BA, Smits AP, Ramos FJ, Pfendner E, et al.

Am J Med Genet. 1992 Apr 15-May 1;43(1-2):237-43.

PMID:
1605197
15.

[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
16.

Distribution of (CGG)n and FMR-1 associated microsatellite alleles in a normal Chilean population.

Jara L, Aspillaga M, Avendaño I, Obreque V, Blanco R, Valenzuela CY.

Am J Med Genet. 1998 Jan 23;75(3):277-82.

PMID:
9475597
17.

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation.

Macpherson JN, Bullman H, Youings SA, Jacobs PA.

Hum Mol Genet. 1994 Mar;3(3):399-405.

PMID:
8012351
18.

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
19.

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.

Gunter C, Paradee W, Crawford DC, Meadows KA, Newman J, Kunst CB, Nelson DL, Schwartz C, Murray A, Macpherson JN, Sherman SL, Warren ST.

Hum Mol Genet. 1998 Nov;7(12):1935-46.

PMID:
9811938
20.

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

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