| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| I Panagopoulos, C Lassen, U Kristoffersson, P Ama. A methylation PCR approach for detection of fragile X syndrome. Human mutation. vol 14. issue 1. 1999-09-21. PMID:10447261. |
fragile x syndrome is associated with the expansion of the number of cgg trinucleotide tandem repeats at the 5' untranslated region of the fmr1 gene. |
1999-09-21 |
2023-08-12 |
Not clear |
| S Adinolfi, C Bagni, M A Castiglione Morelli, F Fraternali, G Musco, A Pastor. Novel RNA-binding motif: the KH module. Biopolymers. vol 51. issue 2. 1999-09-16. PMID:10397799. |
the presence of the kh motifs in fmr1, the protein responsible for the fragile x syndrome, and their possible role in the fmr1 functions are also discussed. |
1999-09-16 |
2023-08-12 |
Not clear |
| L L Kirkpatrick, K A McIlwain, D L Nelso. Alternative splicing in the murine and human FXR1 genes. Genomics. vol 59. issue 2. 1999-09-08. PMID:10409431. |
fragile x syndrome results from mutations in the x-linked fmr1 gene. |
1999-09-08 |
2023-08-12 |
mouse |
| S J Moore, L Strain, G F Cole, Z Miedzybrodzka, K F Kelly, J C Dea. Fragile X syndrome with FMR1 and FMR2 deletion. Journal of medical genetics. vol 36. issue 7. 1999-08-31. PMID:10424820. |
fragile x syndrome with fmr1 and fmr2 deletion. |
1999-08-31 |
2023-08-12 |
Not clear |
| S J Moore, L Strain, G F Cole, Z Miedzybrodzka, K F Kelly, J C Dea. Fragile X syndrome with FMR1 and FMR2 deletion. Journal of medical genetics. vol 36. issue 7. 1999-08-31. PMID:10424820. |
we report a 13 year old boy with fragile x syndrome resulting from a de novo deletion of the fmr1 and fmr2 genes extending from (and including) dxs7536 proximally to fmr2 distally. |
1999-08-31 |
2023-08-12 |
Not clear |
| S J Moore, L Strain, G F Cole, Z Miedzybrodzka, K F Kelly, J C Dea. Fragile X syndrome with FMR1 and FMR2 deletion. Journal of medical genetics. vol 36. issue 7. 1999-08-31. PMID:10424820. |
all four patients have epilepsy and a more severe degree of mental retardation than is usual in fragile x syndrome resulting from fmr1 triplet repeat expansion. |
1999-08-31 |
2023-08-12 |
Not clear |
| P J White, R H Borts, M C Hirs. Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism. Molecular and cellular biology. vol 19. issue 8. 1999-08-19. PMID:10409756. |
the human fmr1 (cgg)(n) array can exhibit genetic instability characterized by progressive expansion over several generations leading to gene silencing and the development of the fragile x syndrome. |
1999-08-19 |
2023-08-12 |
human |
| C Houdayer, A Lemonnier, M Gerard, C Chauve, M Tredano, T B de Villemeur, P Aymard, J P Bonnefont, D Feldman. Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus. Clinical chemistry and laboratory medicine. vol 37. issue 4. 1999-08-13. PMID:10369109. |
fragile x syndrome is the most frequent heritable genetic disease involving mental retardation and is usually caused by an expanded cgg repeat in the first exon of the fmr1 gene. |
1999-08-13 |
2023-08-12 |
Not clear |
| R Willemsen, B Anar, Y De Diego Otero, B B de Vries, Y Hilhorst-Hofstee, A Smits, E van Looveren, P J Willems, H Galjaard, B A Oostr. Noninvasive test for fragile X syndrome, using hair root analysis. American journal of human genetics. vol 65. issue 1. 1999-08-05. PMID:10364521. |
identification of the fmr1 gene and the repeat-amplification mechanism causing fragile x syndrome led to development of reliable dna-based diagnostic methods, including southern blot hybridization and pcr. |
1999-08-05 |
2023-08-12 |
Not clear |
| M M Pimente. Fragile X syndrome (review). International journal of molecular medicine. vol 3. issue 6. 1999-08-02. PMID:10341296. |
fragile x syndrome is the most common form of inherited mental retardation currently known, associated with a wide range of developmental disabilities in both males and females, caused by a large expansion of a (cgg)n repeat in the first exon of the fmr1 gene. |
1999-08-02 |
2023-08-12 |
Not clear |
| M M Pimente. Fragile X syndrome (review). International journal of molecular medicine. vol 3. issue 6. 1999-08-02. PMID:10341296. |
the fragile x syndrome is due to the shutdown of the fmr1 gene transcription, and the pathogenesis of this syndrome is a consequence of absence of the protein product of the fmr1 gene (fmrp). |
1999-08-02 |
2023-08-12 |
Not clear |
| C P Pang, P M Poon, Q L Chen, K Y Lai, C H Yin, Z Zhao, N Zhong, C H Lau, S T Lam, C K Wong, W T Brow. Trinucleotide CGG repeat in the FMR1 gene in Chinese mentally retarded patients. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331586. |
the fragile x syndrome of mental retardation is related to the number of trinucleotide cgg repeats at the 5'-untranslated region of the fmr1 gene located on the x-chromosome. |
1999-06-24 |
2023-08-12 |
human |
| N Zhong, W Ju, W Xu, L Ye, Y Shen, G Wu, S H Chen, R Jin, X F Hu, A Yang, X Liu, P Poon, C Pang, Y Zheng, L Song, P Zhao, B Fu, H Gu, W T Brow. Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331588. |
this unique distribution of microsatellite markers flanking the fmr1 cgg repeats suggests that the fragile x syndrome in chinese populations, as in the caucasian, may also be derived from founder chromosomes. |
1999-06-24 |
2023-08-12 |
human |
| V Pekarík, M Blazková, L Kozá. Haplotype analysis of the fragile X syndrome gene FMR1 in the Czech Republic. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331594. |
haplotype analysis of the fragile x syndrome gene fmr1 in the czech republic. |
1999-06-24 |
2023-08-12 |
Not clear |
| B Schmucker, J Seide. Mosaicism for a full mutation and a normal size allele in two fragile X males. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331596. |
confirmation of the clinical diagnosis of fragile x syndrome by molecular tests is based on both the presence of a full mutation and methylation of the promotor region of the fmr1 gene. |
1999-06-24 |
2023-08-12 |
Not clear |
| E Petek, P M Kroisel, M Schuster, H Zierler, K Wagne. Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331598. |
in most cases the fragile x syndrome is caused by an amplification of the cgg trinucleotide repeat in the 5' untranslated region of the fmr1 gene, in combination with the hypermethylation of the proximal cpg island. |
1999-06-24 |
2023-08-12 |
Not clear |
| A K Taylor, F Tassone, P N Dyer, S M Hersch, J B Harris, W T Greenough, R J Hagerma. Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331599. |
tissue heterogeneity of the fmr1 mutation in a high-functioning male with fragile x syndrome. |
1999-06-24 |
2023-08-12 |
Not clear |
| A K Taylor, F Tassone, P N Dyer, S M Hersch, J B Harris, W T Greenough, R J Hagerma. Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331599. |
few studies have been conducted comparing the fmr1 mutation in multiple tissues of individuals affected with fragile x syndrome. |
1999-06-24 |
2023-08-12 |
Not clear |
| A K Taylor, F Tassone, P N Dyer, S M Hersch, J B Harris, W T Greenough, R J Hagerma. Tissue heterogeneity of the FMR1 mutation in a high-functioning male with fragile X syndrome. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331599. |
we report a postmortem study of the fmr1 mutation in multiple tissues from a high-functioning male with fragile x syndrome. |
1999-06-24 |
2023-08-12 |
Not clear |
| F Tassone, R J Hagerman, L W Gane, A K Taylo. Strong similarities of the FMR1 mutation in multiple tissues: postmortem studies of a male with a full mutation and a male carrier of a premutation. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331600. |
studies of the fmr1 mutation in multiple tissues are important to further our understanding of cgg repeat expansion in development and of the frequency and possible clinical significance of inter-tissue heterogeneity in fragile x syndrome. |
1999-06-24 |
2023-08-12 |
Not clear |