215 related articles for article (PubMed ID: 34404536)
1. Treatment of telomeropathies.
Vieri M; Brümmendorf TH; Beier F
Best Pract Res Clin Haematol; 2021 Jun; 34(2):101282. PubMed ID: 34404536
[TBL] [Abstract][Full Text] [Related]
2. An update on the biology and management of dyskeratosis congenita and related telomere biology disorders.
Niewisch MR; Savage SA
Expert Rev Hematol; 2019 Dec; 12(12):1037-1052. PubMed ID: 31478401
[No Abstract] [Full Text] [Related]
3. Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.
Allingham MJ
Ophthalmic Surg Lasers Imaging Retina; 2016 Apr; 47(4):366-8. PubMed ID: 27065378
[TBL] [Abstract][Full Text] [Related]
4. Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.
Yamaguchi H; Sakaguchi H; Yoshida K; Yabe M; Yabe H; Okuno Y; Muramatsu H; Takahashi Y; Yui S; Shiraishi Y; Chiba K; Tanaka H; Miyano S; Inokuchi K; Ito E; Ogawa S; Kojima S
Int J Hematol; 2015 Nov; 102(5):544-52. PubMed ID: 26329388
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.
Burris AM; Ballew BJ; Kentosh JB; Turner CE; Norton SA; ; ; Giri N; Alter BP; Nellan A; Gamper C; Hartman KR; Savage SA
Pediatr Neurol; 2016 Mar; 56():62-68.e1. PubMed ID: 26810774
[TBL] [Abstract][Full Text] [Related]
7. Dyskeratosis congenita.
Dokal I
Hematology Am Soc Hematol Educ Program; 2011; 2011():480-6. PubMed ID: 22160078
[TBL] [Abstract][Full Text] [Related]
8. Hoyeraal-Hreidarsson syndrome caused by a germline mutation in the TEL patch of the telomere protein TPP1.
Kocak H; Ballew BJ; Bisht K; Eggebeen R; Hicks BD; Suman S; O'Neil A; Giri N; ; ; Maillard I; Alter BP; Keegan CE; Nandakumar J; Savage SA
Genes Dev; 2014 Oct; 28(19):2090-102. PubMed ID: 25233904
[TBL] [Abstract][Full Text] [Related]
9. Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.
Lim BC; Yoo SK; Lee S; Shin JY; Hwang H; Chae JH; Hwang YS; Seo JS; Kim JI; Kim KJ
Gene; 2014 Aug; 546(2):425-9. PubMed ID: 24914498
[TBL] [Abstract][Full Text] [Related]
10. The biology and management of dyskeratosis congenita and related disorders of telomeres.
Tummala H; Walne A; Dokal I
Expert Rev Hematol; 2022 Aug; 15(8):685-696. PubMed ID: 35929966
[TBL] [Abstract][Full Text] [Related]
11. Unraveling the pathogenesis of Hoyeraal-Hreidarsson syndrome, a complex telomere biology disorder.
Glousker G; Touzot F; Revy P; Tzfati Y; Savage SA
Br J Haematol; 2015 Aug; 170(4):457-71. PubMed ID: 25940403
[TBL] [Abstract][Full Text] [Related]
12. Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes RW; Chiou EH; Queliza K; Shouval DS; Somech R; Agarwal S; Jajoo K; Ziegler DS; Kratz CP; Huang J; Lucas TL; Myers KC; Nelson AS; DiNardo CD; Alter BP; Giri N; Khincha PP; McReynolds LJ; Dufour C; Pierri F; Goldman FD; Sherif Y; Savage SA; Miloh T; Bertuch AA
J Pediatr; 2021 Mar; 230():55-61.e4. PubMed ID: 32971146
[TBL] [Abstract][Full Text] [Related]
13. Heterogeneous telomere defects in patients with severe forms of dyskeratosis congenita.
Touzot F; Gaillard L; Vasquez N; Le Guen T; Bertrand Y; Bourhis J; Leblanc T; Fischer A; Soulier J; de Villartay JP; Revy P
J Allergy Clin Immunol; 2012 Feb; 129(2):473-82, 482.e1-3. PubMed ID: 22078571
[TBL] [Abstract][Full Text] [Related]
14. Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.
Bakar Ö; Işik U; Canpolat C; Alanay Y
Pediatr Dermatol; 2015; 32(6):e263-6. PubMed ID: 26446280
[TBL] [Abstract][Full Text] [Related]
15. Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
Deng Z; Glousker G; Molczan A; Fox AJ; Lamm N; Dheekollu J; Weizman OE; Schertzer M; Wang Z; Vladimirova O; Schug J; Aker M; Londoño-Vallejo A; Kaestner KH; Lieberman PM; Tzfati Y
Proc Natl Acad Sci U S A; 2013 Sep; 110(36):E3408-16. PubMed ID: 23959892
[TBL] [Abstract][Full Text] [Related]
16. Human telomeres and telomere biology disorders.
Savage SA
Prog Mol Biol Transl Sci; 2014; 125():41-66. PubMed ID: 24993697
[TBL] [Abstract][Full Text] [Related]
17. Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
Le Guen T; Jullien L; Touzot F; Schertzer M; Gaillard L; Perderiset M; Carpentier W; Nitschke P; Picard C; Couillault G; Soulier J; Fischer A; Callebaut I; Jabado N; Londono-Vallejo A; de Villartay JP; Revy P
Hum Mol Genet; 2013 Aug; 22(16):3239-49. PubMed ID: 23591994
[TBL] [Abstract][Full Text] [Related]
18. [Dyskeratosis congenita: short telomeres are not the rule].
Touzot F; Le Guen T; de Villartay JP; Revy P
Med Sci (Paris); 2012; 28(6-7):618-24. PubMed ID: 22805138
[TBL] [Abstract][Full Text] [Related]
19. Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders.
Trotta L; Norberg A; Taskinen M; Béziat V; Degerman S; Wartiovaara-Kautto U; Välimaa H; Jahnukainen K; Casanova JL; Seppänen M; Saarela J; Koskenvuo M; Martelius T
Orphanet J Rare Dis; 2018 Aug; 13(1):139. PubMed ID: 30115091
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]