These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
44. FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male. Wang Z; Taylor AK; Bridge JA J Med Genet; 1996 May; 33(5):376-8. PubMed ID: 8733046 [TBL] [Abstract][Full Text] [Related]
45. Making a (cautious) case for expanding reproductive genetic carrier screens: Australian researchers report success, and caveats, with a simultaneous panel of cystic fibrosis, fragile X syndrome, and spinal muscular atrophy. Am J Med Genet A; 2018 Mar; 176(3):510-512. PubMed ID: 29446568 [No Abstract] [Full Text] [Related]
46. Fragile X syndrome. Terracciano A; Chiurazzi P; Neri G Am J Med Genet C Semin Med Genet; 2005 Aug; 137C(1):32-7. PubMed ID: 16010677 [TBL] [Abstract][Full Text] [Related]
47. [Mental retardation and fragile X syndrome]. Nanba E No To Shinkei; 1998 Apr; 50(4):317-23. PubMed ID: 9592820 [No Abstract] [Full Text] [Related]
48. Novel polymorphism in the FMR1 gene resulting in a "pseudodeletion" of FMR1 in a commonly used fragile X assay. Daly TM; Rafii A; Martin RA; Zehnbauer BA J Mol Diagn; 2000 Aug; 2(3):128-31. PubMed ID: 11229516 [TBL] [Abstract][Full Text] [Related]
50. Complex behavior of simple repeats: the fragile X syndrome. Oostra BA; Halley DJ Pediatr Res; 1995 Nov; 38(5):629-37. PubMed ID: 8552426 [TBL] [Abstract][Full Text] [Related]
51. Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Lugenbeel KA; Peier AM; Carson NL; Chudley AE; Nelson DL Nat Genet; 1995 Aug; 10(4):483-5. PubMed ID: 7670500 [TBL] [Abstract][Full Text] [Related]
52. [Genetic studies in the neuropsychiatric disorders]. Kondo I Tanpakushitsu Kakusan Koso; 1993 Feb; 38(3):327-34. PubMed ID: 8488267 [No Abstract] [Full Text] [Related]
53. Fragile X syndrome and selective mutism. Hagerman RJ; Hills J; Scharfenaker S; Lewis H Am J Med Genet; 1999 Apr; 83(4):313-7. PubMed ID: 10208168 [TBL] [Abstract][Full Text] [Related]
54. The X chromosome and fragile X mental retardation. Oostra BA; Willemsen R Cytogenet Genome Res; 2002; 99(1-4):257-64. PubMed ID: 12900573 [TBL] [Abstract][Full Text] [Related]
55. FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics. de Vries BB; Severijnen LA; Jacobs A; Olmer R; Halley DJ; Oostra BA; Willemsen R J Med Genet; 2003 Jul; 40(7):535-9. PubMed ID: 12843328 [No Abstract] [Full Text] [Related]
56. Clinical conundrums in fragile X syndrome. Hagerman R Nat Genet; 1992 Jun; 1(3):157-8. PubMed ID: 1303227 [No Abstract] [Full Text] [Related]
57. General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation. de Vries BB; Robinson H; Stolte-Dijkstra I; Tjon Pian Gi CV; Dijkstra PF; van Doorn J; Halley DJ; Oostra BA; Turner G; Niermeijer MF J Med Genet; 1995 Oct; 32(10):764-9. PubMed ID: 8558551 [TBL] [Abstract][Full Text] [Related]
58. [Fragile X syndrome, a disease caused by defects in an RNA-binding protein]. Siomi MC; Siomi H Tanpakushitsu Kakusan Koso; 2003 Mar; 48(4 Suppl):480-6. PubMed ID: 12696157 [No Abstract] [Full Text] [Related]
59. A new regulatory pathway for fragile X syndrome? Hansen RS; Laird CD Nat Med; 2002 Nov; 8(11):1204-5. PubMed ID: 12411943 [No Abstract] [Full Text] [Related]