230 related articles for article (PubMed ID: 30115091)
21. Telomere biology disorders: time for moving towards the clinic?
Batista LFZ; Dokal I; Parker R
Trends Mol Med; 2022 Oct; 28(10):882-891. PubMed ID: 36057525
[TBL] [Abstract][Full Text] [Related]
22. Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry.
Tometten M; Kirschner M; Isfort S; Berres ML; Brümmendorf TH; Beier F
Orphanet J Rare Dis; 2021 Sep; 16(1):395. PubMed ID: 34565437
[TBL] [Abstract][Full Text] [Related]
23. Disease progression and clinical outcomes in telomere biology disorders.
Niewisch MR; Giri N; McReynolds LJ; Alsaggaf R; Bhala S; Alter BP; Savage SA
Blood; 2022 Mar; 139(12):1807-1819. PubMed ID: 34852175
[TBL] [Abstract][Full Text] [Related]
24. Comparable Effects of the Androgen Derivatives Danazol, Oxymetholone and Nandrolone on Telomerase Activity in Human Primary Hematopoietic Cells from Patients with Dyskeratosis Congenita.
Vieri M; Kirschner M; Tometten M; Abels A; Rolles B; Isfort S; Panse J; Brümmendorf TH; Beier F
Int J Mol Sci; 2020 Sep; 21(19):. PubMed ID: 33003434
[TBL] [Abstract][Full Text] [Related]
25. Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.
Callea M; Martinelli D; Cammarata-Scalisi F; Grimaldi C; Jilani H; Grimaldi P; Willoughby CE; Morabito A
Genes (Basel); 2022 Mar; 13(3):. PubMed ID: 35328050
[TBL] [Abstract][Full Text] [Related]
26. Complex phenotype of dyskeratosis congenita and mood dysregulation with novel homozygous RTEL1 and TPH1 variants.
Ungar RA; Giri N; Pao M; Khincha PP; Zhou W; Alter BP; Savage SA
Am J Med Genet A; 2018 Jun; 176(6):1432-1437. PubMed ID: 29696773
[TBL] [Abstract][Full Text] [Related]
27. Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.
Tummala H; Walne A; Collopy L; Cardoso S; de la Fuente J; Lawson S; Powell J; Cooper N; Foster A; Mohammed S; Plagnol V; Vulliamy T; Dokal I
J Clin Invest; 2015 May; 125(5):2151-60. PubMed ID: 25893599
[TBL] [Abstract][Full Text] [Related]
28. Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Collopy LC; Walne AJ; Cardoso S; de la Fuente J; Mohamed M; Toriello H; Tamary H; Ling AJ; Lloyd T; Kassam R; Tummala H; Vulliamy TJ; Dokal I
Blood; 2015 Jul; 126(2):176-84. PubMed ID: 26024875
[TBL] [Abstract][Full Text] [Related]
29. Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findings.
Çepni E; Satkın NB; Moheb LA; Rocha ME; Kayserili H
Am J Med Genet A; 2022 Apr; 188(4):1226-1232. PubMed ID: 34890115
[TBL] [Abstract][Full Text] [Related]
30. Dyskeratosis congenita and telomere biology disorders.
Savage SA
Hematology Am Soc Hematol Educ Program; 2022 Dec; 2022(1):637-648. PubMed ID: 36485133
[TBL] [Abstract][Full Text] [Related]
31. Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.
Walne AJ; Collopy L; Cardoso S; Ellison A; Plagnol V; Albayrak C; Albayrak D; Kilic SS; Patıroglu T; Akar H; Godfrey K; Carter T; Marafie M; Vora A; Sundin M; Vulliamy T; Tummala H; Dokal I
Haematologica; 2016 Oct; 101(10):1180-1189. PubMed ID: 27612988
[TBL] [Abstract][Full Text] [Related]
32. Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita.
Parry EM; Alder JK; Lee SS; Phillips JA; Loyd JE; Duggal P; Armanios M
J Med Genet; 2011 May; 48(5):327-33. PubMed ID: 21415081
[TBL] [Abstract][Full Text] [Related]
33. Dyskeratosis congenita: telomerase, telomeres and anticipation.
Marrone A; Walne A; Dokal I
Curr Opin Genet Dev; 2005 Jun; 15(3):249-57. PubMed ID: 15917199
[TBL] [Abstract][Full Text] [Related]
34. Novel variants in Nordic patients referred for genetic testing of telomere-related disorders.
Norberg A; Rosén A; Raaschou-Jensen K; Kjeldsen L; Moilanen JS; Paulsson-Karlsson Y; Baliakas P; Lohi O; Ahmed A; Kittang AO; Larsson P; Roos G; Degerman S; Hultdin M
Eur J Hum Genet; 2018 Jun; 26(6):858-867. PubMed ID: 29483670
[TBL] [Abstract][Full Text] [Related]
35. Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.
Feurstein S; Adegunsoye A; Mojsilovic D; Vij R; West DePersia AH; Rajagopal PS; Osman A; Collins RH; Kim RH; Gore SD; Greenberg P; Godley LA; Li Z; Del Gaudio D; Subramanian HP; Das S; Walsh T; Gulsuner S; Segal JP; Husain AN; Gurbuxani S; King MC; Strek ME; Churpek JE
Blood Adv; 2020 Oct; 4(19):4873-4886. PubMed ID: 33035329
[TBL] [Abstract][Full Text] [Related]
36. TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.
Savage SA; Giri N; Baerlocher GM; Orr N; Lansdorp PM; Alter BP
Am J Hum Genet; 2008 Feb; 82(2):501-9. PubMed ID: 18252230
[TBL] [Abstract][Full Text] [Related]
37. A novel cause of
Arthur JW; Pickett HA; Barbaro PM; Kilo T; Vasireddy RS; Beilharz TH; Powell DR; Hackett EL; Bennetts B; Curtin JA; Jones K; Christodoulou J; Reddel RR; Teo J; Bryan TM
EJHaem; 2021 May; 2(2):157-166. PubMed ID: 35845273
[TBL] [Abstract][Full Text] [Related]
38. Telomere dynamics and hematopoietic differentiation of human DKC1-mutant induced pluripotent stem cells.
Donaires FS; Alves-Paiva RM; Gutierrez-Rodrigues F; da Silva FB; Tellechea MF; Moreira LF; Santana BA; Traina F; Dunbar CE; Winkler T; Calado RT
Stem Cell Res; 2019 Oct; 40():101540. PubMed ID: 31479877
[TBL] [Abstract][Full Text] [Related]
39. Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita.
Alter BP; Baerlocher GM; Savage SA; Chanock SJ; Weksler BB; Willner JP; Peters JA; Giri N; Lansdorp PM
Blood; 2007 Sep; 110(5):1439-47. PubMed ID: 17468339
[TBL] [Abstract][Full Text] [Related]
40. Progression of liver disease and portal hypertension in dyskeratosis congenita and related telomere biology disorders.
Vittal A; Niewisch MR; Bhala S; Kudaravalli P; Rahman F; Hercun J; Kleiner DE; Savage SA; Koh C; Heller T; Giri N
Hepatology; 2023 Dec; 78(6):1777-1787. PubMed ID: 37184208
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]