215 related articles for article (PubMed ID: 36140775)
21. Fragile X syndrome: the FMR1 CGG repeat distribution among world populations.
Peprah E
Ann Hum Genet; 2012 Mar; 76(2):178-91. PubMed ID: 22188182
[TBL] [Abstract][Full Text] [Related]
22. Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male.
Han XD; Powell BR; Phalin JL; Chehab FF
Am J Med Genet A; 2006 Jul; 140(13):1463-71. PubMed ID: 16761284
[TBL] [Abstract][Full Text] [Related]
23. FMR1 mRNA from full mutation alleles is associated with ABC-C
Baker EK; Arpone M; Kraan C; Bui M; Rogers C; Field M; Bretherton L; Ling L; Ure A; Cohen J; Hunter MF; Santa María L; Faundes V; Curotto B; Morales P; Trigo C; Salas I; Alliende A; Amor DJ; Godler DE
Sci Rep; 2020 Jul; 10(1):11701. PubMed ID: 32678152
[TBL] [Abstract][Full Text] [Related]
24. FMR1 Protein Expression Correlates with Intelligence Quotient in Both Peripheral Blood Mononuclear Cells and Fibroblasts from Individuals with an FMR1 Mutation.
Jiraanont P; Zafarullah M; Sulaiman N; Espinal GM; Randol JL; Durbin-Johnson B; Schneider A; Hagerman RJ; Hagerman PJ; Tassone F
J Mol Diagn; 2024 Jun; 26(6):498-509. PubMed ID: 38522837
[TBL] [Abstract][Full Text] [Related]
25. Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature.
Coffee B; Ikeda M; Budimirovic DB; Hjelm LN; Kaufmann WE; Warren ST
Am J Med Genet A; 2008 May; 146A(10):1358-67. PubMed ID: 18412117
[TBL] [Abstract][Full Text] [Related]
26. Size and methylation mosaicism in males with Fragile X syndrome.
Jiraanont P; Kumar M; Tang HT; Espinal G; Hagerman PJ; Hagerman RJ; Chutabhakdikul N; Tassone F
Expert Rev Mol Diagn; 2017 Nov; 17(11):1023-1032. PubMed ID: 28929824
[TBL] [Abstract][Full Text] [Related]
27. Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene.
Liu XS; Wu H; Krzisch M; Wu X; Graef J; Muffat J; Hnisz D; Li CH; Yuan B; Xu C; Li Y; Vershkov D; Cacace A; Young RA; Jaenisch R
Cell; 2018 Feb; 172(5):979-992.e6. PubMed ID: 29456084
[TBL] [Abstract][Full Text] [Related]
28. Antisense oligonucleotide rescue of CGG expansion-dependent
Shah S; Sharp KJ; Raju Ponny S; Lee J; Watts JK; Berry-Kravis E; Richter JD
Proc Natl Acad Sci U S A; 2023 Jul; 120(27):e2302534120. PubMed ID: 37364131
[TBL] [Abstract][Full Text] [Related]
29. Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in Fragile X syndrome and Fragile X-associated tremor/ataxia syndrome.
Pastori C; Peschansky VJ; Barbouth D; Mehta A; Silva JP; Wahlestedt C
Hum Genet; 2014 Jan; 133(1):59-67. PubMed ID: 24005575
[TBL] [Abstract][Full Text] [Related]
30. Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype.
Collins SC; Coffee B; Benke PJ; Berry-Kravis E; Gilbert F; Oostra B; Halley D; Zwick ME; Cutler DJ; Warren ST
PLoS One; 2010 Mar; 5(3):e9476. PubMed ID: 20221430
[TBL] [Abstract][Full Text] [Related]
31. Mechanisms of Genome Instability in the Fragile X-Related Disorders.
Hayward BE; Usdin K
Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34681027
[TBL] [Abstract][Full Text] [Related]
32. Fragile X syndrome and deletions in FMR1: new case and review of the literature.
Hammond LS; Macias MM; Tarleton JC; Shashidhar Pai G
Am J Med Genet; 1997 Nov; 72(4):430-4. PubMed ID: 9375726
[TBL] [Abstract][Full Text] [Related]
33. CNS expression of murine fragile X protein (FMRP) as a function of CGG-repeat size.
Ludwig AL; Espinal GM; Pretto DI; Jamal AL; Arque G; Tassone F; Berman RF; Hagerman PJ
Hum Mol Genet; 2014 Jun; 23(12):3228-38. PubMed ID: 24463622
[TBL] [Abstract][Full Text] [Related]
34. The feasibility and utility of hair follicle sampling to measure FMRP and FMR1 mRNA in children with or without fragile X syndrome: a pilot study.
Jalnapurkar I; Frazier JA; Roth M; Cochran DM; Foley A; Merk T; Venuti L; Ronco L; Raines S; Cadavid D
J Neurodev Disord; 2022 Dec; 14(1):57. PubMed ID: 36494616
[TBL] [Abstract][Full Text] [Related]
35. A unique case of reversion to normal size of a maternal premutation FMR1 allele in a normal boy.
Tabolacci E; Pomponi MG; Pietrobono R; Chiurazzi P; Neri G
Eur J Hum Genet; 2008 Feb; 16(2):209-14. PubMed ID: 17971832
[TBL] [Abstract][Full Text] [Related]
36. [FMR1 PREMUTATION CARRIERS - ARE THEY REALLY ASYMPTOMATIC?].
Elizur S; Berkenstadt M; Ries-Levavi L; Gruber N; Pinhas-Hamiel O; Hassin-Baer S; Raas-Rothschild A; Raanani H; Cukierman-Yaffe T; Orvieto R; Cohen Y; Gabis L
Harefuah; 2018 Apr; 157(4):241-244. PubMed ID: 29688643
[TBL] [Abstract][Full Text] [Related]
37. Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.
Genç B; Müller-Hartmann H; Zeschnigk M; Deissler H; Schmitz B; Majewski F; von Gontard A; Doerfler W
Nucleic Acids Res; 2000 May; 28(10):2141-52. PubMed ID: 10773084
[TBL] [Abstract][Full Text] [Related]
38. Think about it: FMR1 gene mosaicism.
Bonarrigo FA; Russo S; Vizziello P; Menni F; Cogliati F; Giorgini V; Monti F; Milani D
J Child Neurol; 2014 Sep; 29(9):NP74-7. PubMed ID: 24065579
[TBL] [Abstract][Full Text] [Related]
39. [Chromatin changes caused by CGG repeat expansion in fmr1 gene].
Yudkin DV; Lemskaya NA; Grischenko IV; Dolskiy AA
Mol Biol (Mosk); 2015; 49(2):205-11. PubMed ID: 26065250
[TBL] [Abstract][Full Text] [Related]
40. CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.
Brykczynska U; Pecho-Vrieseling E; Thiemeyer A; Klein J; Fruh I; Doll T; Manneville C; Fuchs S; Iazeolla M; Beibel M; Roma G; Naumann U; Kelley N; Oakeley EJ; Mueller M; Gomez-Mancilla B; Bühler M; Tabolacci E; Chiurazzi P; Neri G; Bouwmeester T; Di Giorgio FP; Fodor BD
Stem Cell Reports; 2016 Dec; 7(6):1059-1071. PubMed ID: 27840045
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
