1212 related articles for article (PubMed ID: 23560306)
1. Unstable mutations in the FMR1 gene and the phenotypes.
Loesch D; Hagerman R
Adv Exp Med Biol; 2012; 769():78-114. PubMed ID: 23560306
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. Presence of inclusions positive for polyglycine containing protein, FMRpolyG, indicates that repeat-associated non-AUG translation plays a role in fragile X-associated primary ovarian insufficiency.
Buijsen RA; Visser JA; Kramer P; Severijnen EA; Gearing M; Charlet-Berguerand N; Sherman SL; Berman RF; Willemsen R; Hukema RK
Hum Reprod; 2016 Jan; 31(1):158-68. PubMed ID: 26537920
[TBL] [Abstract][Full Text] [Related]
4. Fragile X-associated tremor/ataxia syndrome: influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles.
Wang JY; Hessl D; Schneider A; Tassone F; Hagerman RJ; Rivera SM
JAMA Neurol; 2013 Aug; 70(8):1022-9. PubMed ID: 23753897
[TBL] [Abstract][Full Text] [Related]
5. EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.
Biancalana V; Glaeser D; McQuaid S; Steinbach P
Eur J Hum Genet; 2015 Apr; 23(4):417-25. PubMed ID: 25227148
[TBL] [Abstract][Full Text] [Related]
6. Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.
Jarmolowicz AI; Baker EK; Bartlett E; Francis D; Ling L; Gamage D; Delatycki MB; Godler DE
Am J Med Genet A; 2021 May; 185(5):1498-1503. PubMed ID: 33544979
[TBL] [Abstract][Full Text] [Related]
7. CGG repeat in the FMR1 gene: size matters.
Willemsen R; Levenga J; Oostra BA
Clin Genet; 2011 Sep; 80(3):214-25. PubMed ID: 21651511
[TBL] [Abstract][Full Text] [Related]
8. Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene.
Loesch DZ; Sherwell S; Kinsella G; Tassone F; Taylor A; Amor D; Sung S; Evans A
Clin Genet; 2012 Jul; 82(1):88-92. PubMed ID: 21476992
[TBL] [Abstract][Full Text] [Related]
9. Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.
Hwang YT; Aliaga SM; Arpone M; Francis D; Li X; Chong B; Slater HR; Rogers C; Bretherton L; Hunter M; Heard R; Godler DE
Am J Med Genet A; 2016 Dec; 170(12):3327-3332. PubMed ID: 27696642
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.
Basuta K; Schneider A; Gane L; Polussa J; Woodruff B; Pretto D; Hagerman R; Tassone F
Am J Med Genet A; 2015 Sep; 167A(9):2154-61. PubMed ID: 25920745
[TBL] [Abstract][Full Text] [Related]
12. Molecular Pathogenesis and Peripheral Monitoring of Adult Fragile X-Associated Syndromes.
Valor LM; Morales JC; Hervás-Corpión I; Marín R
Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445074
[TBL] [Abstract][Full Text] [Related]
13. Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers.
Wang Z; Khemani P; Schmitt LM; Lui S; Mosconi MW
J Neurodev Disord; 2019 Jan; 11(1):2. PubMed ID: 30665341
[TBL] [Abstract][Full Text] [Related]
14. Fragile X premutation and associated health conditions: A review.
Tassanakijpanich N; Hagerman RJ; Worachotekamjorn J
Clin Genet; 2021 Jun; 99(6):751-760. PubMed ID: 33443313
[TBL] [Abstract][Full Text] [Related]
15. Fragile X syndrome and fragile X-associated tremor ataxia syndrome.
Hall DA; Berry-Kravis E
Handb Clin Neurol; 2018; 147():377-391. PubMed ID: 29325626
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Characterization and Early Detection of Balance Deficits in Fragile X Premutation Carriers With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS).
O'Keefe JA; Robertson-Dick E; Dunn EJ; Li Y; Deng Y; Fiutko AN; Berry-Kravis E; Hall DA
Cerebellum; 2015 Dec; 14(6):650-62. PubMed ID: 25763861
[TBL] [Abstract][Full Text] [Related]
19. FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes.
Seixas AI; Vale J; Jorge P; Marques I; Santos R; Alonso I; Fortuna AM; Pinto-Basto J; Coutinho P; Margolis RL; Sequeiros J; Silveira I
Behav Brain Funct; 2011 Jun; 7():19. PubMed ID: 21639881
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
