Format
Sort by
Items per page

Send to

Choose Destination

Links from MedGen

Items: 1 to 20 of 65

1.

Hoyeraal-Hreidarsson Syndrome due to PARN Mutations: Fourteen Years of Follow-Up.

Burris AM, Ballew BJ, Kentosh JB, Turner CE, Norton SA; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Giri N, Alter BP, Nellan A, Gamper C, Hartman KR, Savage SA.

Pediatr Neurol. 2016 Mar;56:62-68.e1. doi: 10.1016/j.pediatrneurol.2015.12.005. Epub 2015 Dec 19.

2.

Poly(A)-specific ribonuclease (PARN) mediates 3'-end maturation of the telomerase RNA component.

Moon DH, Segal M, Boyraz B, Guinan E, Hofmann I, Cahan P, Tai AK, Agarwal S.

Nat Genet. 2015 Dec;47(12):1482-8. doi: 10.1038/ng.3423. Epub 2015 Oct 19.

3.

The molecular genetics of the telomere biology disorders.

Bertuch AA.

RNA Biol. 2016 Aug 2;13(8):696-706. doi: 10.1080/15476286.2015.1094596. Epub 2015 Sep 23. Review.

4.

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. doi: 10.1111/bjh.13442. Epub 2015 May 4. Review.

5.

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. doi: 10.1172/JCI78963. Epub 2015 Apr 20.

6.

Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.

Stuart BD, Choi J, Zaidi S, Xing C, Holohan B, Chen R, Choi M, Dharwadkar P, Torres F, Girod CE, Weissler J, Fitzgerald J, Kershaw C, Klesney-Tait J, Mageto Y, Shay JW, Ji W, Bilguvar K, Mane S, Lifton RP, Garcia CK.

Nat Genet. 2015 May;47(5):512-7. doi: 10.1038/ng.3278. Epub 2015 Apr 13.

7.

Successful T-cell-depleted haploidentical hematopoietic stem cell transplantation in a child with dyskeratosis congenita after a fludarabine-based conditioning regimen.

Algeri M, Comoli P, Strocchio L, Perotti C, Corbella F, Del Fante C, Baio A, Giorgiani G, Gurrado A, Accornero E, Cugno C, Pession A, Zecca M.

J Pediatr Hematol Oncol. 2015 May;37(4):322-6. doi: 10.1097/MPH.0000000000000283.

PMID:
25374286
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; NCI DCEG Cancer Genomics Research Laboratory; NCI DCEG Cancer Sequencing Working Group, Maillard I, Alter BP, Keegan CE, Nandakumar J, Savage SA.

Genes Dev. 2014 Oct 1;28(19):2090-102. doi: 10.1101/gad.248567.114. Epub 2014 Sep 18.

9.

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 30;124(18):2767-74. doi: 10.1182/blood-2014-08-596445. Epub 2014 Sep 9.

10.

Clinical utility gene card for: Dyskeratosis congenita - update 2015.

Dokal I, Vulliamy T, Mason P, Bessler M.

Eur J Hum Genet. 2015 Apr;23(4). doi: 10.1038/ejhg.2014.170. Epub 2014 Sep 3. No abstract available.

11.

Response to androgen therapy in patients with dyskeratosis congenita.

Khincha PP, Wentzensen IM, Giri N, Alter BP, Savage SA.

Br J Haematol. 2014 May;165(3):349-57. doi: 10.1111/bjh.12748. Epub 2014 Feb 12.

12.

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. doi: 10.1371/journal.pgen.1003695. Epub 2013 Aug 29.

13.

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 3;110(36):E3408-16. doi: 10.1073/pnas.1300600110. Epub 2013 Aug 19.

14.

Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders.

Ballew BJ, Savage SA.

Expert Rev Hematol. 2013 Jun;6(3):327-37. doi: 10.1586/ehm.13.23. Review.

PMID:
23782086
15.

Outcomes of allogeneic hematopoietic cell transplantation in patients with dyskeratosis congenita.

Gadalla SM, Sales-Bonfim C, Carreras J, Alter BP, Antin JH, Ayas M, Bodhi P, Davis J, Davies SM, Deconinck E, Deeg HJ, Duerst RE, Fasth A, Ghavamzadeh A, Giri N, Goldman FD, Kolb EA, Krance R, Kurtzberg J, Leung WH, Srivastava A, Or R, Richman CM, Rosenberg PS, Toledo Codina JS, Shenoy S, Socié G, Tolar J, Williams KM, Eapen M, Savage SA.

Biol Blood Marrow Transplant. 2013 Aug;19(8):1238-43. doi: 10.1016/j.bbmt.2013.05.021. Epub 2013 Jun 8.

16.

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 15;22(16):3239-49. doi: 10.1093/hmg/ddt178. Epub 2013 Apr 15.

PMID:
23591994
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 7;92(3):448-53. doi: 10.1016/j.ajhg.2013.02.001. Epub 2013 Feb 28.

18.

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. doi: 10.1007/s00439-013-1265-8. Epub 2013 Jan 18.

19.

Neuropsychiatric conditions among patients with dyskeratosis congenita: a link with telomere biology?

Rackley S, Pao M, Seratti GF, Giri N, Rasimas JJ, Alter BP, Savage SA.

Psychosomatics. 2012 May-Jun;53(3):230-5. doi: 10.1016/j.psym.2011.09.003. Epub 2012 Mar 27.

20.

Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.

Jongmans MC, Verwiel ET, Heijdra Y, Vulliamy T, Kamping EJ, Hehir-Kwa JY, Bongers EM, Pfundt R, van Emst L, van Leeuwen FN, van Gassen KL, Geurts van Kessel A, Dokal I, Hoogerbrugge N, Ligtenberg MJ, Kuiper RP.

Am J Hum Genet. 2012 Mar 9;90(3):426-33. doi: 10.1016/j.ajhg.2012.01.004. Epub 2012 Feb 16.

Supplemental Content

Support Center