484 related articles for article (PubMed ID: 24914498)
1. 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]
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. 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]
4. 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]
5. 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]
6. 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]
7. Overlap of dyskeratosis congenita with the Hoyeraal-Hreidarsson syndrome.
Yaghmai R; Kimyai-Asadi A; Rostamiani K; Heiss NS; Poustka A; Eyaid W; Bodurtha J; Nousari HC; Hamosh A; Metzenberg A
J Pediatr; 2000 Mar; 136(3):390-3. PubMed ID: 10700698
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Brain imaging features of children with Hoyeraal-Hreidarsson syndrome.
Zhang MJ; Cao YX; Wu HY; Li HH
Brain Behav; 2021 May; 11(5):e02079. PubMed ID: 33734615
[TBL] [Abstract][Full Text] [Related]
10. Aplastic anemia and Hoyeraal-Hreidarsson syndrome.
Malbora B; Avci Z; Ozbek N
Skinmed; 2014; 12(2):117-8. PubMed ID: 24933854
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. [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]
13. 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]
14. Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.
Knight SW; Heiss NS; Vulliamy TJ; Aalfs CM; McMahon C; Richmond P; Jones A; Hennekam RC; Poustka A; Mason PJ; Dokal I
Br J Haematol; 1999 Nov; 107(2):335-9. PubMed ID: 10583221
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Congenital infection-like syndrome with intracranial calcification.
Mizuno Y; Takahashi K; Igarashi T; Saito M; Mizuguchi M
Brain Dev; 2011 Jun; 33(6):530-3. PubMed ID: 20926212
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
Fedick AM; Shi L; Jalas C; Treff NR; Ekstein J; Kornreich R; Edelmann L; Mehta L; Savage SA
Clin Genet; 2015 Aug; 88(2):177-81. PubMed ID: 25047097
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]