398 related articles for article (PubMed ID: 25233904)
1. 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]
2. 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]
3. Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
Ballew BJ; Yeager M; Jacobs K; Giri N; Boland J; Burdett L; Alter BP; Savage SA
Hum Genet; 2013 Apr; 132(4):473-80. PubMed ID: 23329068
[TBL] [Abstract][Full Text] [Related]
4. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
Ballew BJ; Joseph V; De S; Sarek G; Vannier JB; Stracker T; Schrader KA; Small TN; O'Reilly R; Manschreck C; Harlan Fleischut MM; Zhang L; Sullivan J; Stratton K; Yeager M; Jacobs K; Giri N; Alter BP; Boland J; Burdett L; Offit K; Boulton SJ; Savage SA; Petrini JH
PLoS Genet; 2013 Aug; 9(8):e1003695. PubMed ID: 24009516
[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 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]
7. 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]
8. 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]
9. 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]
10. A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.
Gramatges MM; Qi X; Sasa GS; Chen JJ; Bertuch AA
Blood; 2013 May; 121(18):3586-93. PubMed ID: 23538340
[TBL] [Abstract][Full Text] [Related]
11. Inherited bone marrow failure associated with germline mutation of ACD, the gene encoding telomere protein TPP1.
Guo Y; Kartawinata M; Li J; Pickett HA; Teo J; Kilo T; Barbaro PM; Keating B; Chen Y; Tian L; Al-Odaib A; Reddel RR; Christodoulou J; Xu X; Hakonarson H; Bryan TM
Blood; 2014 Oct; 124(18):2767-74. PubMed ID: 25205116
[TBL] [Abstract][Full Text] [Related]
12. TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase.
Yang D; He Q; Kim H; Ma W; Songyang Z
J Biol Chem; 2011 Jul; 286(26):23022-30. PubMed ID: 21536674
[TBL] [Abstract][Full Text] [Related]
13. Identification and characterization of novel
Henslee G; Williams CL; Liu P; Bertuch AA
Cold Spring Harb Mol Case Stud; 2021 Feb; 7(1):. PubMed ID: 33446513
[TBL] [Abstract][Full Text] [Related]
14. Impaired telomere integrity and rRNA biogenesis in PARN-deficient patients and knock-out models.
Benyelles M; Episkopou H; O'Donohue MF; Kermasson L; Frange P; Poulain F; Burcu Belen F; Polat M; Bole-Feysot C; Langa-Vives F; Gleizes PE; de Villartay JP; Callebaut I; Decottignies A; Revy P
EMBO Mol Med; 2019 Jul; 11(7):e10201. PubMed ID: 31273937
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
Vulliamy T; Beswick R; Kirwan MJ; Hossain U; Walne AJ; Dokal I
Clin Genet; 2012 Jan; 81(1):76-81. PubMed ID: 21199492
[TBL] [Abstract][Full Text] [Related]
17. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
Walne AJ; Vulliamy T; Kirwan M; Plagnol V; Dokal I
Am J Hum Genet; 2013 Mar; 92(3):448-53. PubMed ID: 23453664
[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. The TEL patch of telomere protein TPP1 mediates telomerase recruitment and processivity.
Nandakumar J; Bell CF; Weidenfeld I; Zaug AJ; Leinwand LA; Cech TR
Nature; 2012 Dec; 492(7428):285-9. PubMed ID: 23103865
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
