167 related articles for article (PubMed ID: 8116613)
1. 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]
2. Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities.
Helderman-van den Enden AT; Maaswinkel-Mooij PD; Hoogendoorn E; Willemsen R; Maat-Kievit JA; Losekoot M; Oostra BA
J Med Genet; 1999 Mar; 36(3):253-7. PubMed ID: 10204857
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
10. Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.
Milà M; Castellví-Bel S; Sánchez A; Lázaro C; Villa M; Estivill X
J Med Genet; 1996 Apr; 33(4):338-40. PubMed ID: 8730293
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome.
Meijer H; de Graaff E; Merckx DM; Jongbloed RJ; de Die-Smulders CE; Engelen JJ; Fryns JP; Curfs PM; Oostra BA
Hum Mol Genet; 1994 Apr; 3(4):615-20. PubMed ID: 8069307
[TBL] [Abstract][Full Text] [Related]
13. 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; 28(10):2141-52. PubMed ID: 10773084
[TBL] [Abstract][Full Text] [Related]
14. Methylation analysis of CGG sites in the CpG island of the human FMR1 gene.
Hansen RS; Gartler SM; Scott CR; Chen SH; Laird CD
Hum Mol Genet; 1992 Nov; 1(8):571-8. PubMed ID: 1301165
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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; 64(2):293-5. PubMed ID: 8844068
[TBL] [Abstract][Full Text] [Related]
17. FMR1 gene deletion/reversion: a pitfall of fragile X carrier testing.
Gasteiger M; Grasbon-Frodl E; Neitzel B; Kooy F; Holinski-Feder E
Genet Test; 2003; 7(4):303-8. PubMed ID: 15000806
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Screening for CGG trinucleotide repeat expansion in the fragile X mental retardation 1 gene in schizophrenic patients.
Jönsson E; Björck E; Wahlström J; Gustavsson P; Sedvall G
Psychiatr Genet; 1995; 5(4):157-60. PubMed ID: 8750357
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]