308 related articles for article (PubMed ID: 34299283)
1. X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.
Viggiano E; Politano L
Int J Mol Sci; 2021 Jul; 22(14):. PubMed ID: 34299283
[TBL] [Abstract][Full Text] [Related]
2. X-inactivation in Fabry disease.
Elstein D; Schachamorov E; Beeri R; Altarescu G
Gene; 2012 Sep; 505(2):266-8. PubMed ID: 22710134
[TBL] [Abstract][Full Text] [Related]
3. X-chromosome inactivation in female patients with Fabry disease.
Echevarria L; Benistan K; Toussaint A; Dubourg O; Hagege AA; Eladari D; Jabbour F; Beldjord C; De Mazancourt P; Germain DP
Clin Genet; 2016 Jan; 89(1):44-54. PubMed ID: 25974833
[TBL] [Abstract][Full Text] [Related]
4. Female Fabry disease patients and X-chromosome inactivation.
Juchniewicz P; Kloska A; Tylki-Szymańska A; Jakóbkiewicz-Banecka J; Węgrzyn G; Moskot M; Gabig-Cimińska M; Piotrowska E
Gene; 2018 Jan; 641():259-264. PubMed ID: 29079200
[TBL] [Abstract][Full Text] [Related]
5. X-chromosome inactivation patterns in females with Fabry disease examined by both ultra-deep RNA sequencing and methylation-dependent assay.
Rossanti R; Nozu K; Fukunaga A; Nagano C; Horinouchi T; Yamamura T; Sakakibara N; Minamikawa S; Ishiko S; Aoto Y; Okada E; Ninchoji T; Kato N; Maruyama S; Kono K; Nishi S; Iijima K; Fujii H
Clin Exp Nephrol; 2021 Nov; 25(11):1224-1230. PubMed ID: 34128148
[TBL] [Abstract][Full Text] [Related]
6. Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report.
Rodríguez Doyágüez P; Furlano M; Ars Criach E; Arce Y; Guirado L; Torra Balcells R
Nefrologia (Engl Ed); 2023 Dec; 43 Suppl 2():91-95. PubMed ID: 38278716
[TBL] [Abstract][Full Text] [Related]
7. Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
Dobrovolny R; Dvorakova L; Ledvinova J; Magage S; Bultas J; Lubanda JC; Elleder M; Karetova D; Pavlikova M; Hrebicek M
J Mol Med (Berl); 2005 Aug; 83(8):647-54. PubMed ID: 15806320
[TBL] [Abstract][Full Text] [Related]
8. Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.
Viggiano E; Picillo E; Ergoli M; Cirillo A; Del Gaudio S; Politano L
J Gene Med; 2017 Apr; 19(4):. PubMed ID: 28316128
[TBL] [Abstract][Full Text] [Related]
9. Anderson-Fabry disease: a multiorgan disease.
Tuttolomondo A; Pecoraro R; Simonetta I; Miceli S; Pinto A; Licata G
Curr Pharm Des; 2013; 19(33):5974-96. PubMed ID: 23448451
[TBL] [Abstract][Full Text] [Related]
10. X-chromosomal inactivation patterns in women with Fabry disease.
Wagenhäuser L; Rickert V; Sommer C; Wanner C; Nordbeck P; Rost S; Üçeyler N
Mol Genet Genomic Med; 2022 Sep; 10(9):e2029. PubMed ID: 35971858
[TBL] [Abstract][Full Text] [Related]
11. Disease manifestations and X inactivation in heterozygous females with Fabry disease.
Maier EM; Osterrieder S; Whybra C; Ries M; Gal A; Beck M; Roscher AA; Muntau AC
Acta Paediatr Suppl; 2006 Apr; 95(451):30-8. PubMed ID: 16720462
[TBL] [Abstract][Full Text] [Related]
12. DNA methylation impact on Fabry disease.
Di Risi T; Vinciguerra R; Cuomo M; Della Monica R; Riccio E; Cocozza S; Imbriaco M; Duro G; Pisani A; Chiariotti L
Clin Epigenetics; 2021 Feb; 13(1):24. PubMed ID: 33531072
[TBL] [Abstract][Full Text] [Related]
13. Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome Analyses.
Dardik R; Avishai E; Lalezari S; Barg AA; Levy-Mendelovich S; Budnik I; Barel O; Khavkin Y; Kenet G; Livnat T
Int J Mol Sci; 2021 Aug; 22(16):. PubMed ID: 34445777
[TBL] [Abstract][Full Text] [Related]
14. X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.
Viggiano E; Madej-Pilarczyk A; Carboni N; Picillo E; Ergoli M; Gaudio SD; Marchel M; Nigro G; Palladino A; Politano L
Genes (Basel); 2019 Nov; 10(11):. PubMed ID: 31718017
[TBL] [Abstract][Full Text] [Related]
15. Pitfalls of X-chromosome inactivation testing in females with Fabry disease.
Řeboun M; Sikora J; Magner M; Wiederlechnerová H; Černá A; Poupětová H; Štorkánova G; Mušálková D; Dostálová G; Goláň L; Linhart A; Dvořáková L
Am J Med Genet A; 2022 Jul; 188(7):1979-1989. PubMed ID: 35338595
[TBL] [Abstract][Full Text] [Related]
16. [Fabry disease. Clinical and genetic aspects. Therapeutic perspectives].
Germain DP
Rev Med Interne; 2000 Dec; 21(12):1086-103. PubMed ID: 11191676
[TBL] [Abstract][Full Text] [Related]
17. Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene.
Kono JO; Podskarbi T; Shin Y; Lanzl I
Cornea; 2003 Mar; 22(2):175-7. PubMed ID: 12605057
[TBL] [Abstract][Full Text] [Related]
18. Natural course of Fabry disease with the p. Arg227Ter (p.R227*) mutation in Finland: Fast study.
Pietilä-Effati P; Saarinen JT; Löyttyniemi E; Autio R; Saarenhovi M; Haanpää MK; Kantola I
Mol Genet Genomic Med; 2019 Oct; 7(10):e00930. PubMed ID: 31411008
[TBL] [Abstract][Full Text] [Related]
19. Determining the role of skewed X-chromosome inactivation in developing muscle symptoms in carriers of Duchenne muscular dystrophy.
Viggiano E; Ergoli M; Picillo E; Politano L
Hum Genet; 2016 Jul; 135(7):685-98. PubMed ID: 27098336
[TBL] [Abstract][Full Text] [Related]
20. A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease.
Mirceva V; Hein R; Ring J; Möhrenschlager M
Australas J Dermatol; 2010 Feb; 51(1):36-8. PubMed ID: 20148840
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
