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22. Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing. Fisch GS; Nelson DL; Snow K; Thibodeau SN; Chalifoux M; Holden JJ Am J Med Genet; 1994 Jul; 51(4):339-45. PubMed ID: 7942996 [TBL] [Abstract][Full Text] [Related]
23. DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. van den Ouweland AM; de Vries BB; Bakker PL; Deelen WH; de Graaff E; van Hemel JO; Oostra BA; Niermeijer MF; Halley DJ Am J Med Genet; 1994 Jul; 51(4):482-5. PubMed ID: 7943024 [TBL] [Abstract][Full Text] [Related]
24. Molecular characterization of the fragile-X syndrome in the Mexican population. Díaz-Gallardo MY; Barros-Núñez P; Díaz CA; Hernández A; Gómez-Espinel I; Leal CA; Fragoso R; Figuera L; García-Cruz D; Ramírez-Dueñas ML Arch Med Res; 1995; 26 Spec No():S77-83. PubMed ID: 8845662 [TBL] [Abstract][Full Text] [Related]
25. Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern. Rodriguez-Revenga L; Madrigal I; Badenas C; Xunclà M; Jiménez L; Milà M Menopause; 2009; 16(5):944-9. PubMed ID: 19373114 [TBL] [Abstract][Full Text] [Related]
26. Prenatal diagnosis in known fragile X carriers. Maddalena A; Hicks BD; Spence WC; Levinson G; Howard-Peebles PN Am J Med Genet; 1994 Jul; 51(4):490-6. PubMed ID: 7943026 [TBL] [Abstract][Full Text] [Related]
27. Preimplantation genetic diagnosis for fragile X syndrome: is there increased transmission of abnormal FMR1 alleles among female heterozygotes? Reches A; Malcov M; Ben-Yosef D; Azem F; Amit A; Yaron Y Prenat Diagn; 2009 Jan; 29(1):57-61. PubMed ID: 19097038 [TBL] [Abstract][Full Text] [Related]
28. Effect of X inactivation on fragile X frequency and mental retardation. Rosenberg C; Vianna-Morgante AM; Otto PA; Navajas L Am J Med Genet; 1991; 38(2-3):421-4. PubMed ID: 2018084 [TBL] [Abstract][Full Text] [Related]
29. Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not suppressed on inactive X chromosomes separated from the active homologue. Wöhrle D; Fryns JP; Steinbach P Hum Genet; 1990 Oct; 85(6):659-65. PubMed ID: 2227957 [TBL] [Abstract][Full Text] [Related]
30. Conservation of CGG region in FMR1 gene in mammals. Deelen W; Bakker C; Halley DJ; Oostra BA Am J Med Genet; 1994 Jul; 51(4):513-6. PubMed ID: 7943032 [TBL] [Abstract][Full Text] [Related]
31. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Gu Y; Shen Y; Gibbs RA; Nelson DL Nat Genet; 1996 May; 13(1):109-13. PubMed ID: 8673086 [TBL] [Abstract][Full Text] [Related]
32. 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. PubMed ID: 8862184 [TBL] [Abstract][Full Text] [Related]
33. X inactivation-specific methylation of LINE-1 elements by DNMT3B: implications for the Lyon repeat hypothesis. Hansen RS Hum Mol Genet; 2003 Oct; 12(19):2559-67. PubMed ID: 12925568 [TBL] [Abstract][Full Text] [Related]
34. Methylation and mutation patterns in the fragile X syndrome. Malmgren H; Steén-Bondeson ML; Gustavson KH; Seémanova E; Holmgren G; Oberlé I; Mandel JL; Pettersson U; Dahl N Am J Med Genet; 1992 Apr 15-May 1; 43(1-2):268-78. PubMed ID: 1605200 [TBL] [Abstract][Full Text] [Related]
35. X chromosome inactivation in fibroblasts of mentally retarded female carriers of the fragile site Xq27.3: application of the probe M27 beta to evaluate X inactivation status. Schmidt M; Du Sart D; Kalitsis P; Fraser N; Leversha M; Voullaire L; Foster D; Davies J; Hills L; Petrovic V Am J Med Genet; 1991; 38(2-3):411-5. PubMed ID: 1673316 [TBL] [Abstract][Full Text] [Related]
36. 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]
37. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Parrish JE; Oostra BA; Verkerk AJ; Richards CS; Reynolds J; Spikes AS; Shaffer LG; Nelson DL Nat Genet; 1994 Nov; 8(3):229-35. PubMed ID: 7874164 [TBL] [Abstract][Full Text] [Related]
38. Expression of the fragile site Xq27 in fibroblasts. II. Evidence for negative and positive clones from heterozygous females and possible relationship between frequency and phenotype. Steinbach P; Barbi G; Baur S; Vogel W Hum Genet; 1983; 64(3):279-82. PubMed ID: 6885072 [TBL] [Abstract][Full Text] [Related]
39. Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population. Sharma D; Gupta M; Thelma BK Genet Epidemiol; 2001 Jan; 20(1):129-144. PubMed ID: 11119302 [TBL] [Abstract][Full Text] [Related]
40. Fragile-X carrier females: evidence for a distinct psychopathological phenotype? Franke P; Maier W; Hautzinger M; Weiffenbach O; Gänsicke M; Iwers B; Poustka F; Schwab SG; Froster U Am J Med Genet; 1996 Aug; 64(2):334-9. PubMed ID: 8844076 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]