230 related articles for article (PubMed ID: 7902319)
1. 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
Hum Genet; 1993 Nov; 92(5):491-8. PubMed ID: 7902319
[TBL] [Abstract][Full Text] [Related]
2. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.
Snow K; Doud LK; Hagerman R; Pergolizzi RG; Erster SH; Thibodeau SN
Am J Hum Genet; 1993 Dec; 53(6):1217-28. PubMed ID: 7902673
[TBL] [Abstract][Full Text] [Related]
3. 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; 64(2):404-7. PubMed ID: 8844092
[TBL] [Abstract][Full Text] [Related]
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
Nat Genet; 1993 Jun; 4(2):143-6. PubMed ID: 8348152
[TBL] [Abstract][Full Text] [Related]
5. No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.
Rousseau F; Robb LJ; Rouillard P; Der Kaloustian VM
Hum Mol Genet; 1994 Jun; 3(6):927-30. PubMed ID: 7951239
[TBL] [Abstract][Full Text] [Related]
6. Molecular predictors of cognitive involvement in female carriers of fragile X syndrome.
Taylor AK; Safanda JF; Fall MZ; Quince C; Lang KA; Hull CE; Carpenter I; Staley LW; Hagerman RJ
JAMA; 1994 Feb; 271(7):507-14. PubMed ID: 8301764
[TBL] [Abstract][Full Text] [Related]
7. Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1.
Franke P; Leboyer M; Gänsicke M; Weiffenbach O; Biancalana V; Cornillet-Lefebre P; Croquette MF; Froster U; Schwab SG; Poustka F; Hautzinger M; Maier W
Psychiatry Res; 1998 Aug; 80(2):113-27. PubMed ID: 9754690
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 1301913
[TBL] [Abstract][Full Text] [Related]
9. Fragile X syndrome: discordant levels of CGG repeat mosaicism in two brothers.
Mueller OT; Hartsfield JK; Amar MJ; Gallardo LA; Kousseff BG
Am J Med Genet; 1995 Aug; 60(4):302-6. PubMed ID: 7485265
[TBL] [Abstract][Full Text] [Related]
10. The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring: implications for the origin of mosaicism.
Mingroni-Netto RC; Haddad LA; Vianna-Morgante AM
Am J Med Genet; 1996 Aug; 64(2):270-3. PubMed ID: 8844063
[TBL] [Abstract][Full Text] [Related]
11. 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; Warren ST
Cell; 1991 Dec; 67(6):1047-58. PubMed ID: 1760838
[TBL] [Abstract][Full Text] [Related]
12. Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.
Kruyer H; Milà M; Glover G; Carbonell P; Ballesta F; Estivill X
Am J Hum Genet; 1994 Mar; 54(3):437-42. PubMed ID: 8116613
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 8069653
[TBL] [Abstract][Full Text] [Related]
14. Unusual mutations in high functioning fragile X males: apparent instability of expanded unmethylated CGG repeats.
Wöhrle D; Salat U; Gläser D; Mücke J; Meisel-Stosiek M; Schindler D; Vogel W; Steinbach P
J Med Genet; 1998 Feb; 35(2):103-11. PubMed ID: 9507388
[TBL] [Abstract][Full Text] [Related]
15. Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.
McConkie-Rosell A; Lachiewicz AM; Spiridigliozzi GA; Tarleton J; Schoenwald S; Phelan MC; Goonewardena P; Ding X; Brown WT
Am J Hum Genet; 1993 Oct; 53(4):800-9. PubMed ID: 8213810
[TBL] [Abstract][Full Text] [Related]
16. Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families.
Milà M; Kruyer H; Glover G; Sánchez A; Carbonell P; Castellví-Bell S; Volpini V; Rossell J; Gabarrón J; López I
Hum Genet; 1994 Oct; 94(4):395-400. PubMed ID: 7927336
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 8490650
[TBL] [Abstract][Full Text] [Related]
18. High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression.
Hagerman RJ; Hull CE; Safanda JF; Carpenter I; Staley LW; O'Connor RA; Seydel C; Mazzocco MM; Snow K; Thibodeau SN
Am J Med Genet; 1994 Jul; 51(4):298-308. PubMed ID: 7942991
[TBL] [Abstract][Full Text] [Related]
19. Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.
de Vries BB; Jansen CC; Duits AA; Verheij C; Willemsen R; van Hemel JO; van den Ouweland AM; Niermeijer MF; Oostra BA; Halley DJ
J Med Genet; 1996 Dec; 33(12):1007-10. PubMed ID: 9004132
[TBL] [Abstract][Full Text] [Related]
20. Molecular and cytogenetic investigations of the fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes.
Gurling HM; Bolton PF; Vincent J; Melmer G; Rutter M
Hum Hered; 1997; 47(5):254-62. PubMed ID: 9358013
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
