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Items: 1 to 20 of 114

1.

Severe variant of x-linked dyskeratosis congenita (Hoyeraal-Hreidarsson Syndrome) causes significant enterocolitis in early infancy.

Borggraefe I, Koletzko S, Arenz T, Fuehrer M, Hoffmann F, Dokal I, Vulliamy T, Weiler V, Griese M, Belohradsky BH, Lang T.

J Pediatr Gastroenterol Nutr. 2009 Sep;49(3):359-63. doi: 10.1097/MPG.0b013e3181a15b94. No abstract available.

PMID:
19633571
2.

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.

PMID:
10700698
3.

Further delineation of the congenital form of X-linked dyskeratosis congenita (Hoyeraal-Hreidarsson syndrome).

Sznajer Y, Baumann C, David A, Journel H, Lacombe D, Perel Y, Blouin P, Segura JF, Cezard JP, Peuchmaur M, Vulliamy T, Dokal I, Verloes A.

Eur J Pediatr. 2003 Dec;162(12):863-7. Epub 2003 Sep 30. Review.

PMID:
14648217
4.

A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.

Cossu F, Vulliamy TJ, Marrone A, Badiali M, Cao A, Dokal I.

Br J Haematol. 2002 Dec;119(3):765-8.

PMID:
12437656
5.

Bilateral Proliferative Retinopathy Associated With Hoyeraal-Hreidarsson Syndrome, a Severe Form of Dyskeratosis Congenita.

Allingham MJ.

Ophthalmic Surg Lasers Imaging Retina. 2016 Apr 1;47(4):366-8. doi: 10.3928/23258160-20160324-11.

6.

The longest surviving child with Hoyeraal-Hreidarsson Syndrome.

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

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

7.

Unrelated cord blood transplantation in a girl with Hoyeraal-Hreidarsson syndrome.

Coman D, Herbert A, McGill J, Lockwood L, Hallahan A.

Bone Marrow Transplant. 2008 Aug;42(4):293-4. doi: 10.1038/bmt.2008.163. Epub 2008 Jun 16. No abstract available.

PMID:
18560411
8.

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
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.
11.

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
12.

Genomic instability in Hoyeraal-Hreidarsson syndrome.

Valera ET, Brassesco MS, Roxo P Jr, Lourenço CM, Scrideli CA, Ferriani VP, Tone LG, Vulliamy T, Sakamoto-Hojo ET.

Pediatr Blood Cancer. 2010 May;54(5):779-80. doi: 10.1002/pbc.22446. No abstract available.

PMID:
20205257
13.

Sensitivity to radiation and alkylating agent of peripheral lymphocytes and fibroblasts in a Hoyeraal-Hreidarsson syndrome patient.

M'kacher R, Laithier V, Valent A, Delhommeau F, Violot D, Deutsch E, Dossou J, Béron-Gaillard N, Girinsky T, Bourhis J, Carde P, Bernheim A, Parmentier C.

Pediatr Hematol Oncol. 2003 Dec;20(8):651-6.

PMID:
14578036
14.

Peripheral neuropathy--a novel finding in dyskeratosis congenita.

Ip P, Knight R, Dokal I, Manzur AY, Muntoni F.

Eur J Paediatr Neurol. 2005;9(2):85-9.

PMID:
15843075
15.

Interdisciplinary approach to treat dyskeratosis congenita associated with severe aplastic anemia: a case report.

Fernandes Gomes M, Pinheiro de Abreu P, de Freitas Banzi C, de Oliveira Nogueira T.

Spec Care Dentist. 2006 Mar-Apr;26(2):81-4.

PMID:
16681244
16.

Dyskeratosis congenita in an adolescent girl with associated choanal atresia.

Lener EV, Tom WL, Cunningham BB.

Pediatr Dermatol. 2005 Jan-Feb;22(1):31-5.

PMID:
15660894
17.

Fludarabine, cyclophosphamide, and antithymocyte globulin for a patient with dyskeratosis congenita and severe bone marrow failure.

Ostronoff F, Ostronoff M, Calixto R, Florêncio R, Domingues MC, Souto Maior AP, Sucupira A, Tagliari C.

Biol Blood Marrow Transplant. 2007 Mar;13(3):366-8. No abstract available.

18.

Aplastic anemia and Hoyeraal-Hreidarsson syndrome.

Malbora B, Avci Z, Ozbek N.

Skinmed. 2014 Mar-Apr;12(2):117-8.

PMID:
24933854
19.

Unusual hypersensitivity to radiation therapy in a patient with dyskeratosis congenita syndrome.

Cengiz M, Celebioglu B, Ozyar E, Atahan IL.

Oral Oncol. 2004 Aug;40(7):758-9. No abstract available.

PMID:
15172647
20.

A case of severe atypical food protein-induced enterocolitis syndrome.

Jones KD, Noimark L, Osborn M, Warner JO, Boyle RJ.

Allergy. 2010 Aug;65(8):1061-3. doi: 10.1111/j.1398-9995.2009.02276.x. Epub 2009 Dec 3. No abstract available.

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