281 related articles for article (PubMed ID: 35628235)
1. Mechanisms of the
Tabolacci E; Nobile V; Pucci C; Chiurazzi P
Int J Mol Sci; 2022 May; 23(10):. PubMed ID: 35628235
[TBL] [Abstract][Full Text] [Related]
2. Reversion to Normal of
Tabolacci E; Pietrobono R; Maneri G; Remondini L; Nobile V; Della Monica M; Pomponi MG; Genuardi M; Neri G; Chiurazzi P
Genes (Basel); 2020 Feb; 11(3):. PubMed ID: 32111011
[TBL] [Abstract][Full Text] [Related]
3. CGG-repeat dynamics and
Zhou Y; Kumari D; Sciascia N; Usdin K
Mol Autism; 2016; 7():42. PubMed ID: 27713816
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation.
Hwang YH; Hayward BE; Zafarullah M; Kumar J; Durbin Johnson B; Holmans P; Usdin K; Tassone F
Sci Rep; 2022 Jun; 12(1):10419. PubMed ID: 35729184
[TBL] [Abstract][Full Text] [Related]
6. Methylated premutation of the FMR1 gene in three sisters: correlating CGG expansion and epigenetic inactivation.
Tabolacci E; Pomponi MG; Remondini L; Pietrobono R; Nobile V; Pennacchio G; Gurrieri F; Neri G; Genuardi M; Chiurazzi P
Eur J Hum Genet; 2020 May; 28(5):567-575. PubMed ID: 31804632
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.
Nolin SL; Glicksman A; Tortora N; Allen E; Macpherson J; Mila M; Vianna-Morgante AM; Sherman SL; Dobkin C; Latham GJ; Hadd AG
Am J Med Genet A; 2019 Jul; 179(7):1148-1156. PubMed ID: 31050164
[TBL] [Abstract][Full Text] [Related]
9. A female with typical fragile-X phenotype caused by maternal isodisomy of the entire X chromosome.
Kim JK; Jeong JE; Choi JM; Kim GH; Yoo HW
J Hum Genet; 2020 Jun; 65(6):551-555. PubMed ID: 32144408
[TBL] [Abstract][Full Text] [Related]
10. AGG interruptions and maternal age affect FMR1 CGG repeat allele stability during transmission.
Yrigollen CM; Martorell L; Durbin-Johnson B; Naudo M; Genoves J; Murgia A; Polli R; Zhou L; Barbouth D; Rupchock A; Finucane B; Latham GJ; Hadd A; Berry-Kravis E; Tassone F
J Neurodev Disord; 2014; 6(1):24. PubMed ID: 25110527
[TBL] [Abstract][Full Text] [Related]
11. Paternal transmission of a FMR1 full mutation allele.
Alvarez-Mora MI; Guitart M; Rodriguez-Revenga L; Madrigal I; Gabau E; Milà M
Am J Med Genet A; 2017 Oct; 173(10):2795-2797. PubMed ID: 28815939
[TBL] [Abstract][Full Text] [Related]
12. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles.
Nolin SL; Brown WT; Glicksman A; Houck GE; Gargano AD; Sullivan A; Biancalana V; Bröndum-Nielsen K; Hjalgrim H; Holinski-Feder E; Kooy F; Longshore J; Macpherson J; Mandel JL; Matthijs G; Rousseau F; Steinbach P; Väisänen ML; von Koskull H; Sherman SL
Am J Hum Genet; 2003 Feb; 72(2):454-64. PubMed ID: 12529854
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Detecting AGG Interruptions in Male and Female FMR1 Premutation Carriers by Single-Molecule Sequencing.
Ardui S; Race V; Zablotskaya A; Hestand MS; Van Esch H; Devriendt K; Matthijs G; Vermeesch JR
Hum Mutat; 2017 Mar; 38(3):324-331. PubMed ID: 27883256
[TBL] [Abstract][Full Text] [Related]
15. Maternal FMR1 premutation allele expansion and contraction in fraternal twins.
Alfaro MP; Cohen M; Vnencak-Jones CL
Am J Med Genet A; 2013 Oct; 161A(10):2620-5. PubMed ID: 23949867
[TBL] [Abstract][Full Text] [Related]
16. Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation.
Brouwer JR; Mientjes EJ; Bakker CE; Nieuwenhuizen IM; Severijnen LA; Van der Linde HC; Nelson DL; Oostra BA; Willemsen R
Exp Cell Res; 2007 Jan; 313(2):244-53. PubMed ID: 17150213
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. FMR1 CGG repeat lengths mediate different regulation of reporter gene expression in comparative transient and locus specific integration assays.
Sølvsten C; Nielsen AL
Gene; 2011 Oct; 486(1-2):15-22. PubMed ID: 21767618
[TBL] [Abstract][Full Text] [Related]
19. Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.
Nolin SL; Glicksman A; Ersalesi N; Dobkin C; Brown WT; Cao R; Blatt E; Sah S; Latham GJ; Hadd AG
Genet Med; 2015 May; 17(5):358-64. PubMed ID: 25210937
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
