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Items: 1 to 20 of 119

1.

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 2;121(18):3586-93. doi: 10.1182/blood-2012-08-447755. Epub 2013 Mar 28.

2.

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.

3.

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.

4.

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
5.

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.

6.

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.

7.

A family with Hoyeraal-Hreidarsson syndrome and four variants in two genes of the telomerase core complex.

Vogiatzi P, Perdigones N, Mason PJ, Wilson DB, Bessler M.

Pediatr Blood Cancer. 2013 Jun;60(6):E4-6. doi: 10.1002/pbc.24389. Epub 2013 Jan 17.

8.

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. doi: 10.1016/j.jaci.2011.09.043. Epub 2011 Nov 10.

PMID:
22078571
9.

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.

10.

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome.

Marrone A, Walne A, Tamary H, Masunari Y, Kirwan M, Beswick R, Vulliamy T, Dokal I.

Blood. 2007 Dec 15;110(13):4198-205. Epub 2007 Sep 4.

11.

[Dyskeratosis congenita: short telomeres are not the rule].

Touzot F, Le Guen T, de Villartay JP, Revy P.

Med Sci (Paris). 2012 Jun-Jul;28(6-7):618-24. doi: 10.1051/medsci/2012286015. Epub 2012 Jul 16. Review. French.

12.

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.

13.

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 10;546(2):425-9. doi: 10.1016/j.gene.2014.06.011. Epub 2014 Jun 7.

PMID:
24914498
14.

Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.

Lamm N, Ordan E, Shponkin R, Richler C, Aker M, Tzfati Y.

PLoS One. 2009 May 22;4(5):e5666. doi: 10.1371/journal.pone.0005666.

15.

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. doi: 10.1007/s12185-015-1861-6. Epub 2015 Sep 2.

PMID:
26329388
16.

Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype.

Bakar Ö, Işik U, Canpolat C, Alanay Y.

Pediatr Dermatol. 2015 Nov-Dec;32(6):e263-6. doi: 10.1111/pde.12693. Epub 2015 Oct 8.

PMID:
26446280
17.

Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome.

Moriya K, Niizuma H, Rikiishi T, Yamaguchi H, Sasahara Y, Kure S.

Pediatr Blood Cancer. 2016 Sep;63(9):1683-4. doi: 10.1002/pbc.26030. Epub 2016 Apr 29. No abstract available.

PMID:
27128385
18.

Mutations of the RTEL1 Helicase in a Hoyeraal-Hreidarsson Syndrome Patient Highlight the Importance of the ARCH Domain.

Jullien L, Kannengiesser C, Kermasson L, Cormier-Daire V, Leblanc T, Soulier J, Londono-Vallejo A, de Villartay JP, Callebaut I, Revy P.

Hum Mutat. 2016 May;37(5):469-72. doi: 10.1002/humu.22966. Epub 2016 Feb 23.

PMID:
26847928
19.

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure.

Dehmel M, Brenner S, Suttorp M, Hahn G, Schützle H, Dinger J, Di Donato N, Mackenroth L, von der Hagen M.

Neuropediatrics. 2016 Jun;47(3):182-6. doi: 10.1055/s-0036-1578799. Epub 2016 Mar 7.

PMID:
26951492
20.

The longest surviving child with Hoyeraal-Hreidarsson Syndrome.

Ozdemir MA, Karakukcu M, Kose M, Kumandas S, Gumus H.

Haematologica. 2004 Sep;89(9):ECR38.

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