| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| E Reyniers, J J Martin, P Cras, E Van Marck, I Handig, H Z Jorens, B A Oostra, R F Kooy, P J Willem. Postmortem examination of two fragile X brothers with an FMR1 full mutation. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331601. |
large expansions of the cgg repeat in the 5' untranslated region of the fmr1 gene are found in patients with the fragile x syndrome. |
1999-06-24 |
2023-08-12 |
Not clear |
| F Tassone, R J Hagerman, D N Iklé, P N Dyer, M Lampe, R Willemsen, B A Oostra, A K Taylo. FMRP expression as a potential prognostic indicator in fragile X syndrome. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331602. |
absence or deficit of fmr1 protein (fmrp) resulting from methylation of full mutation genes is the fundamental defect in fragile x syndrome. |
1999-06-24 |
2023-08-12 |
Not clear |
| b' S Castellv\\xc3\\xad-Bel, A S\\xc3\\xa1nchez, C Badenas, J Mallolas, A Barcel\\xc3\\xb3, D Jim\\xc3\\xa9nez, M Villa, X Estivill, M Mil\\xc3\\xa. Single-strand conformation polymorphism analysis in the FMR1 gene. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331603.' |
the fragile x syndrome is due to an expansion of the cgg trinucleotide repeat in the fmr1 gene and hypermethylation of its 5' upstream cpg island in about 95% of the cases. |
1999-06-24 |
2023-08-12 |
Not clear |
| J R Currie, W T Brow. KH domain-containing proteins of yeast: absence of a fragile X gene homologue. American journal of medical genetics. vol 84. issue 3. 1999-06-24. PMID:10331606. |
there are two such domains in the fmr1 protein which is underexpressed in the fragile x syndrome. |
1999-06-24 |
2023-08-12 |
caenorhabditis_elegans |
| W E Kaufmann, M T Abrams, W Chen, A L Reis. Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome. American journal of medical genetics. vol 83. issue 4. 1999-06-10. PMID:10208163. |
the study of the neurobehavioral consequences of mutations of fmr1, the gene responsible for fragile x syndrome (frax), has been based largely on correlations between mutation patterns and cognitive profile. |
1999-06-10 |
2023-08-12 |
human |
| R Parvari, S Mumm, A Galil, E Manor, Y Bar-David, R Carm. Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth. American journal of medical genetics. vol 83. issue 4. 1999-06-10. PMID:10208166. |
deletion of 8.5 mb, including the fmr1 gene, in a male with the fragile x syndrome phenotype and overgrowth. |
1999-06-10 |
2023-08-12 |
Not clear |
| R Parvari, S Mumm, A Galil, E Manor, Y Bar-David, R Carm. Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth. American journal of medical genetics. vol 83. issue 4. 1999-06-10. PMID:10208166. |
a four-year-old boy with severe psychomotor retardation, facial appearance consistent with the fragile x syndrome, hypotonia, and overgrowth was found to have a deletion including the fragile x gene (fmr1). |
1999-06-10 |
2023-08-12 |
Not clear |
| C Dobkin, X Ding, S Li, G Houck, S L Nolin, A Glicksman, N Zhong, E C Jenkins, W T Brow. Accelerated prenatal diagnosis of fragile X syndrome by polymerase chain reaction restriction fragment detection. American journal of medical genetics. vol 83. issue 4. 1999-06-10. PMID:10208176. |
prenatal diagnosis of fragile x syndrome requires detection of the full fmr1 mutation in chorionic villus or amniotic fluid cell samples. |
1999-06-10 |
2023-08-12 |
Not clear |
| J B Vincent, H M Gurlin. Point mutation in intron 10 of FMR1 is unlikely to be a cause of fragile X syndrome. Human mutation. vol 12. issue 6. 1999-06-04. PMID:9829913. |
point mutation in intron 10 of fmr1 is unlikely to be a cause of fragile x syndrome. |
1999-06-04 |
2023-08-12 |
Not clear |
| M T Abrams, W E Kaufmann, F Rousseau, B A Oostra, B Wolozin, C V Taylor, N Lishaa, M L Morel, A Hoogeveen, A L Reis. FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome. American journal of medical genetics. vol 82. issue 1. 1999-03-30. PMID:9916838. |
fmr1 gene expression in olfactory neuroblasts from two males with fragile x syndrome. |
1999-03-30 |
2023-08-12 |
human |
| J P Johnson, R Nelson, C E Schwart. A family with mental retardation, variable macrocephaly and macro-orchidism, and linkage to Xq12-q21. Journal of medical genetics. vol 35. issue 12. 1999-03-22. PMID:9863601. |
most affected males show macrocephaly and macro-orchidism, which are typical signs of the fragile x syndrome, but have been tested cytogenetically and by analysis of the fmr1 gene and do not have this syndrome. |
1999-03-22 |
2023-08-12 |
Not clear |
| E W Khandjian, B Bardoni, F Corbin, A Sittler, S Giroux, D Heitz, S Tremblay, C Pinset, D Montarras, F Rousseau, J Mande. Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis. Human molecular genetics. vol 7. issue 13. 1999-01-21. PMID:9817930. |
the fragile x syndrome results from transcriptional silencing of the fmr1 gene and the absence of its encoded fmrp protein. |
1999-01-21 |
2023-08-12 |
mouse |
| C Gunter, W Paradee, D C Crawford, K A Meadows, J Newman, C B Kunst, D L Nelson, C Schwartz, A Murray, J N Macpherson, S L Sherman, S T Warre. Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1. Human molecular genetics. vol 7. issue 12. 1998-12-15. PMID:9811938. |
in at least 98% of fragile x syndrome cases, the disease results from expansion of the cgg repeat in the 5' end of fmr1. |
1998-12-15 |
2023-08-12 |
Not clear |
| C Lavedan, E Grabczyk, K Usdin, R L Nussbau. Long uninterrupted CGG repeats within the first exon of the human FMR1 gene are not intrinsically unstable in transgenic mice. Genomics. vol 50. issue 2. 1998-10-01. PMID:9653650. |
in an attempt to create a mouse model for the cgg repeat instability seen in fragile x syndrome, we constructed transgenes corresponding to fmr1 premutation alleles. |
1998-10-01 |
2023-08-12 |
mouse |
| L A Livshit. [The molecular genetic nature of the mutations responsible for the development in Ukraine of more widely spread forms of neuromuscular pathology and mental retardation with a monogenic nature of the heredity]. TSitologiia i genetika. vol 32. issue 1. 1998-09-04. PMID:9695245. |
dna-analysis of some mutation of smn, dystrophin, fmr1 and pah genes was performed among 149 high risk families of sma, dmd, fragile x syndrome and pku from different regions of ukraine. |
1998-09-04 |
2023-08-12 |
Not clear |
| V Brown, K Small, L Lakkis, Y Feng, C Gunter, K D Wilkinson, S T Warre. Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein. The Journal of biological chemistry. vol 273. issue 25. 1998-07-09. PMID:9624140. |
fragile x syndrome is caused by the transcriptional silencing of the fmr1 gene due to a trinucleotide repeat expansion. |
1998-07-09 |
2023-08-12 |
human |
| K Grønskov, A Hallberg, K Brøndum-Nielse. Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations. Human genetics. vol 102. issue 4. 1998-06-10. PMID:9600241. |
mutational analysis of the fmr1 gene in 118 mentally retarded males suspected of fragile x syndrome: absence of prevalent mutations. |
1998-06-10 |
2023-08-12 |
Not clear |
| K Grønskov, A Hallberg, K Brøndum-Nielse. Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations. Human genetics. vol 102. issue 4. 1998-06-10. PMID:9600241. |
fragile x syndrome is usually caused by expansion of a trinucleotide (cgg) repeat in the 5'-untranslated region of the fmr1 gene. |
1998-06-10 |
2023-08-12 |
Not clear |
| K Grønskov, A Hallberg, K Brøndum-Nielse. Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations. Human genetics. vol 102. issue 4. 1998-06-10. PMID:9600241. |
however, both deletions and point mutations in fmr1 have been identified as rare causes of the fragile x syndrome. |
1998-06-10 |
2023-08-12 |
Not clear |
| B A Oostra, A T Hoogevee. Animal model for fragile X syndrome. Annals of medicine. vol 29. issue 6. 1998-06-09. PMID:9562525. |
the fragile x syndrome, one of the most common forms of inherited mental retardation, is caused by an expansion of a polymorphic cgg repeat upstream of the coding region in the fmr1 gene. |
1998-06-09 |
2023-08-12 |
mouse |