| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| A Morris, N E Morton, A Collins, J Macpherson, D Nelson, S Sherma. An n-allele model for progressive amplification in the FMR1 locus. Proceedings of the National Academy of Sciences of the United States of America. vol 92. issue 11. 1995-06-29. PMID:7761409. |
an n-allele model is developed for the fmr1 locus, which causes the fragile x syndrome, where n is the number of triplet repeats in the first exon. |
1995-06-29 |
2023-08-12 |
Not clear |
| Y Feng, F Zhang, L K Lokey, J L Chastain, L Lakkis, D Eberhart, S T Warre. Translational suppression by trinucleotide repeat expansion at FMR1. Science (New York, N.Y.). vol 268. issue 5211. 1995-05-30. PMID:7732383. |
fragile x syndrome is the result of the unstable expansion of a trinucleotide repeat in the 5'-untranslated region of the fmr1 gene. |
1995-05-30 |
2023-08-12 |
Not clear |
| F Quan, J Zonana, K Gunter, K L Peterson, R E Magenis, B W Popovic. An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. American journal of human genetics. vol 56. issue 5. 1995-05-24. PMID:7726157. |
an atypical case of fragile x syndrome caused by a deletion that includes the fmr1 gene. |
1995-05-24 |
2023-08-12 |
Not clear |
| F Quan, J Zonana, K Gunter, K L Peterson, R E Magenis, B W Popovic. An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. American journal of human genetics. vol 56. issue 5. 1995-05-24. PMID:7726157. |
fragile x syndrome is the most common form of inherited mental retardation and results from the transcriptional inactivation of the fmr1 gene. |
1995-05-24 |
2023-08-12 |
Not clear |
| F Quan, J Zonana, K Gunter, K L Peterson, R E Magenis, B W Popovic. An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. American journal of human genetics. vol 56. issue 5. 1995-05-24. PMID:7726157. |
we describe here a phenotypically atypical case of fragile x syndrome, caused by a deletion that includes the entire fmr1 gene and > or = 9.0 mb of flanking dna. |
1995-05-24 |
2023-08-12 |
Not clear |
| F Quan, J Zonana, K Gunter, K L Peterson, R E Magenis, B W Popovic. An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. American journal of human genetics. vol 56. issue 5. 1995-05-24. PMID:7726157. |
a diagnosis of fragile x syndrome was established by the failure of rk's dna to hybridize to a 558-bp psti-xhoi fragment (pfxa3) specific for the 5'-end of the fmr1 gene. |
1995-05-24 |
2023-08-12 |
Not clear |
| F Quan, J Zonana, K Gunter, K L Peterson, R E Magenis, B W Popovic. An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. American journal of human genetics. vol 56. issue 5. 1995-05-24. PMID:7726157. |
this patient's unusual clinical presentation may indicate the presence of genes located in the deleted interval proximal to the fmr1 locus that are able to modify the fragile x syndrome phenotype. |
1995-05-24 |
2023-08-12 |
Not clear |
| A M Wiegers, L M Curfs, H Meijer, B Oostra, J P Fryn. A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features. Genetic counseling (Geneva, Switzerland). vol 5. issue 4. 1995-04-20. PMID:7888141. |
the findings in the present family illustrate that the typical characteristics of the fragile x syndrome can be caused by other types of mutations involving the fmr1 than the highly expanded stretches of cgg repeats in the 5' noncoding region of the fmr1 gene, coinciding with abnormal methylation patterns in that area as present in the vast majority of individuals with the fragile x syndrome. |
1995-04-20 |
2023-08-12 |
Not clear |
| H Puissant, M C Malinge, A Larget-Piet, D Martin, P Chauveau, S Odent, G Plessis, P Parent, B Lemarec, L Larget-Pie. Molecular analysis of 53 fragile X families with the probe StB12.3. American journal of medical genetics. vol 53. issue 4. 1995-03-22. PMID:7864047. |
fifty-three pedigrees with the fragile x syndrome have been studied for amplification of the cgg repeat sequence adjacent to the cpg island in the fmr1 gene. |
1995-03-22 |
2023-08-12 |
Not clear |
| A M van den Ouweland, W H Deelen, C B Kunst, M L Uzielli, D L Nelson, S T Warren, B A Oostra, D J Halle. Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Human molecular genetics. vol 3. issue 10. 1995-03-16. PMID:7849707. |
the mutation observed in the fragile x syndrome, an x-linked inherited disorder causing mental retardation, is almost exclusively an expanded cgg repeat in the first exon of the fmr1 gene. |
1995-03-16 |
2023-08-12 |
Not clear |
| b' M A Castiglone Morelli, G Stier, T Gibson, C Joseph, G Musco, A Pastore, G Trav\\xc3\\xa. The KH module has an alpha beta fold. FEBS letters. vol 358. issue 2. 1995-02-23. PMID:7828735.' |
the kh module has recently been identified in a number of rna associated proteins including vigilin and fmr1, a protein implicated in the fragile x syndrome. |
1995-02-23 |
2023-08-12 |
Not clear |
| Y Feng, L Lakkis, D Devys, S T Warre. Quantitative comparison of FMR1 gene expression in normal and premutation alleles. American journal of human genetics. vol 56. issue 1. 1995-02-13. PMID:7825564. |
these data support the nonpenetrant status of premutation carriers of fragile x syndrome and suggest that the occasional case reports to the contrary may reflect either other causes, including low-level mosaicism for larger, methylated fmr1 alleles, or simply coincidence. |
1995-02-13 |
2023-08-12 |
Not clear |
| L Vits, K De Boulle, E Reyniers, I Handig, J K Darby, B Oostra, P J Willem. Apparent regression of the CGG repeat in FMR1 to an allele of normal size. Human genetics. vol 94. issue 5. 1994-12-15. PMID:7959688. |
the fragile x syndrome is the result of amplification of a cgg trinucleotide repeat in the fmr1 gene and anticipation in this disease is caused by an intergenerational expansion of this repeat. |
1994-12-15 |
2023-08-12 |
Not clear |
| P Chiurazzi, E de Graaff, J Ng, A J Verkerk, S Wolfson, G S Fisch, L Kozak, G Neri, B A Oostr. No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome. American journal of medical genetics. vol 51. issue 4. 1994-11-16. PMID:7942992. |
no apparent involvement of the fmr1 gene in five patients with phenotypic manifestations of the fragile x syndrome. |
1994-11-16 |
2023-08-12 |
Not clear |
| Y Trottier, G Imbert, A Poustka, J P Fryns, J L Mande. Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region. American journal of medical genetics. vol 51. issue 4. 1994-11-16. PMID:7943018. |
this deletion is smaller than those previously reported and confirms that fmr1 is the major and probably the only gene implicated in the phenotype of the fragile x syndrome. |
1994-11-16 |
2023-08-12 |
Not clear |
| H Meijer, E de Graaff, D M Merckx, R J Jongbloed, C E de Die-Smulders, J J Engelen, J P Fryns, P M Curfs, B A Oostr. A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Human molecular genetics. vol 3. issue 4. 1994-09-27. PMID:8069307. |
a deletion of 1.6 kb proximal to the cgg repeat of the fmr1 gene causes the clinical phenotype of the fragile x syndrome. |
1994-09-27 |
2023-08-12 |
Not clear |
| H Meijer, E de Graaff, D M Merckx, R J Jongbloed, C E de Die-Smulders, J J Engelen, J P Fryns, P M Curfs, B A Oostr. A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Human molecular genetics. vol 3. issue 4. 1994-09-27. PMID:8069307. |
the vast majority of individuals with the fragile x syndrome show expanded stretches of cgg repeats in the 5' non-coding region of fmr1. |
1994-09-27 |
2023-08-12 |
Not clear |
| Fmr1 knockout mice: a model to study fragile X mental retardation. The Dutch-Belgian Fragile X Consortium. Cell. vol 78. issue 1. 1994-08-17. PMID:8033209. |
male patients with fragile x syndrome lack fmr1 protein due to silencing of the fmr1 gene by amplification of a cgg repeat and subsequent methylation of the promoter region. |
1994-08-17 |
2023-08-12 |
mouse |
| M Fry, L A Loe. The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure. Proceedings of the National Academy of Sciences of the United States of America. vol 91. issue 11. 1994-06-27. PMID:8197163. |
if formed in vivo along the expanded and hypermethylated d(mcgg)n stretch, this tetraplex structure could suppress transcription and replication of the fmr1 gene in the fragile x syndrome cells. |
1994-06-27 |
2023-08-12 |
Not clear |
| H Siomi, M Choi, M C Siomi, R L Nussbaum, G Dreyfus. Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell. vol 77. issue 1. 1994-05-13. PMID:8156595. |
essential role for kh domains in rna binding: impaired rna binding by a mutation in the kh domain of fmr1 that causes fragile x syndrome. |
1994-05-13 |
2023-08-12 |
Not clear |