733 related articles for article (PubMed ID: 27696642)
1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. FXTAS in an unmethylated mosaic male with fragile X syndrome from Chile.
Santa María L; Pugin A; Alliende MA; Aliaga S; Curotto B; Aravena T; Tang HT; Mendoza-Morales G; Hagerman R; Tassone F
Clin Genet; 2014 Oct; 86(4):378-82. PubMed ID: 24028275
[TBL] [Abstract][Full Text] [Related]
10. Unmethylated Mosaic Full Mutation Males without Fragile X Syndrome.
Tak Y; Schneider A; Santos E; Randol JL; Tassone F; Hagerman P; Hagerman RJ
Genes (Basel); 2024 Mar; 15(3):. PubMed ID: 38540390
[TBL] [Abstract][Full Text] [Related]
11. [Triplet expansion cytosine-guanine-guanine: Three cases of OMIM syndrome in the same family].
González-Pérez J; Izquierdo-Álvarez S; Fuertes-Rodrigo C; Monge-Galindo L; Peña-Segura JL; López-Pisón FJ
Med Clin (Barc); 2016 Apr; 146(7):311-5. PubMed ID: 26776484
[TBL] [Abstract][Full Text] [Related]
12. The fragile X mental retardation 1 gene (FMR1): historical perspective, phenotypes, mechanism, pathology, and epidemiology.
Grigsby J
Clin Neuropsychol; 2016 Aug; 30(6):815-33. PubMed ID: 27356167
[TBL] [Abstract][Full Text] [Related]
13. Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Pathophysiology and Clinical Implications.
Cabal-Herrera AM; Tassanakijpanich N; Salcedo-Arellano MJ; Hagerman RJ
Int J Mol Sci; 2020 Jun; 21(12):. PubMed ID: 32575683
[TBL] [Abstract][Full Text] [Related]
14. Identification of FXTAS presenting with SCA 12 like phenotype in India.
Faruq M; Srivastava AK; Suroliya V; Kumar D; Garg A; Shukla G; Behari M
Parkinsonism Relat Disord; 2014 Oct; 20(10):1089-93. PubMed ID: 25085749
[TBL] [Abstract][Full Text] [Related]
15. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS).
Adams JS; Adams PE; Nguyen D; Brunberg JA; Tassone F; Zhang W; Koldewyn K; Rivera SM; Grigsby J; Zhang L; DeCarli C; Hagerman PJ; Hagerman RJ
Neurology; 2007 Aug; 69(9):851-9. PubMed ID: 17724287
[TBL] [Abstract][Full Text] [Related]
16. FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS).
Zafarullah M; Tang HT; Durbin-Johnson B; Fourie E; Hessl D; Rivera SM; Tassone F
Sci Rep; 2020 Jul; 10(1):11099. PubMed ID: 32632326
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia.
Kalus S; King J; Lui E; Gaillard F
J Clin Neurosci; 2016 Jan; 23():162-164. PubMed ID: 26439425
[TBL] [Abstract][Full Text] [Related]
19. Significantly Elevated
Field M; Dudding-Byth T; Arpone M; Baker EK; Aliaga SM; Rogers C; Hickerton C; Francis D; Phelan DG; Palmer EE; Amor DJ; Slater H; Bretherton L; Ling L; Godler DE
Int J Mol Sci; 2019 Aug; 20(16):. PubMed ID: 31405222
[TBL] [Abstract][Full Text] [Related]
20. Molecular analysis of fragile X syndrome.
Basehore MJ; Friez MJ
Curr Protoc Hum Genet; 2014 Jan; 80():9.5.1-9.5.19. PubMed ID: 24510684
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
