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5. The longest surviving child with Hoyeraal-Hreidarsson Syndrome. Ozdemir MA; Karakukcu M; Kose M; Kumandas S; Gumus H Haematologica; 2004 Sep; 89(9):ECR38. PubMed ID: 15377490 [TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. 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]
9. 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. PubMed ID: 26951492 [TBL] [Abstract][Full Text] [Related]
10. 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]
11. [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]
12. 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. PubMed ID: 27128385 [No Abstract] [Full Text] [Related]
13. 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]
14. Complications for a Hoyeraal-Hreidarsson Syndrome Patient with a Germline Chen RL; Lin KK; Chen LY Int J Mol Sci; 2019 Jul; 20(13):. PubMed ID: 31269755 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. The C-terminal extension of human RTEL1, mutated in Hoyeraal-Hreidarsson syndrome, contains harmonin-N-like domains. Faure G; Revy P; Schertzer M; Londono-Vallejo A; Callebaut I Proteins; 2014 Jun; 82(6):897-903. PubMed ID: 24130156 [TBL] [Abstract][Full Text] [Related]
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20. 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] [Next] [New Search]