| scholarly article | Q13442814 |
| P2093 | author name string | K E Davies | |
| S J Knight | |||
| M C Hirst | |||
| A V Flannery | |||
| A Moncla | |||
| M A Voelckel | |||
| P2860 | cites work | Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype | Q52044359 |
| The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. | Q54047243 | ||
| The identification of a third fragile site, FRAXF, in Xq27--q28 distal to both FRAXA and FRAXE | Q70732388 | ||
| Association of fragile X syndrome with delayed replication of the FMR1 gene | Q72814407 | ||
| Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome | Q28273791 | ||
| A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome | Q35195709 | ||
| Molecular heterogeneity of the fragile X syndrome | Q35776375 | ||
| Methylation analysis of CGG sites in the CpG island of the human FMR1 gene | Q38324995 | ||
| A point mutation in the FMR-1 gene associated with fragile X mental retardation | Q41579799 | ||
| Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation | Q41646369 | ||
| Fragile X mental retardation and the iduronate sulphatase locus: testing Laird's model of fra(X) inheritance | Q42080003 | ||
| Fragile X genotype characterized by an unstable region of DNA. | Q43980470 | ||
| Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome | Q44959699 | ||
| Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation | Q46071262 | ||
| Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. | Q52034632 | ||
| DNA methylation represses FMR-1 transcription in fragile X syndrome | Q52042005 | ||
| Fragile X syndrome without CCG amplification has an FMR1 deletion | Q52042510 | ||
| Characterisation of a new rare fragile site easily confused with the fragile X | Q52044126 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | disability | Q12131 |
| P304 | page(s) | 81-86 | |
| P577 | publication date | 1994-07-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap | |
| P478 | volume | 55 |
| Q53712462 | 2015 William Allan Award Introduction: Kay E. Davies1. |
| Q35881640 | A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. |
| Q35644285 | An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene |
| Q50305806 | Autism spectrum disorder: FRAXE mutation, a rare etiology |
| Q34777507 | CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro |
| Q36016607 | Chromatin changes in the development and pathology of the Fragile X-associated disorders and Friedreich ataxia |
| Q33678260 | Clinical, cytogenetic, and molecular analysis of three families with FRAXE |
| Q35882071 | Expansion and methylation status at FRAXE can be detected on EcoRI blots used for FRAXA diagnosis: analysis of four FRAXE families with mild mental retardation in males |
| Q35434914 | FRAXA and FRAXE: the results of a five year survey |
| Q24517881 | FRAXE and mental retardation |
| Q41666269 | FRAXE expansion is not a common etiological factor among developmentally delayed males. |
| Q24793185 | Fragile X (CGG)n repeats induce a transcriptional repression in cis upon a linked promoter: evidence for a chromatin mediated effect |
| Q33678232 | Fragile X syndrome is less common than previously estimated |
| Q28586975 | Impaired conditioned fear and enhanced long-term potentiation in Fmr2 knock-out mice |
| Q36900707 | Instability and chromatin structure of expanded trinucleotide repeats |
| Q35232809 | Laf4/Aff3, a gene involved in intellectual disability, is required for cellular migration in the mouse cerebral cortex |
| Q35881984 | Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. |
| Q46703061 | PURA, the gene encoding Pur-alpha, member of an ancient nucleic acid-binding protein family with mammalian neurological functions |
| Q35889580 | Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data |
| Q33681082 | Studies of FRAXA and FRAXE in women with premature ovarian failure |
| Q42591469 | The FRAXE Syndrome: is it time for routine screening? |
| Q35644289 | The fragile X premutation in carriers and its effect on mutation size in offspring |
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