Savage SA, Alter BP: Dyskeratosis congenita. Hematol Oncol Clin North Am. 2009, 23: 215-231. 10.1016/j.hoc.2009.01.003.
Article
PubMed
PubMed Central
Google Scholar
Alter BP, Giri N, Savage SA, Rosenberg PS: Cancer in dyskeratosis congenita. Blood. 2009, 113: 6549-6557. 10.1182/blood-2008-12-192880.
Article
CAS
PubMed
PubMed Central
Google Scholar
Alter BP, Baerlocher GM, Savage SA, Chanock SJ, Weksler BB, Willner JP, Peters JA, Giri N, Lansdorp PM: Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita. Blood. 2007, 110: 1439-1447. 10.1182/blood-2007-02-075598.
Article
CAS
PubMed
PubMed Central
Google Scholar
Heiss NS, Knight SW, Vulliamy TJ, Klauck SM, Wiemann S, Mason PJ, Poustka A, Dokal I: X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet. 1998, 19: 32-38. 10.1038/ng0598-32.
Article
CAS
PubMed
Google Scholar
Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ, Dokal I: The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nature. 2001, 413: 432-435. 10.1038/35096585.
Article
CAS
PubMed
Google Scholar
Vulliamy TJ, Walne A, Baskaradas A, Mason PJ, Marrone A, Dokal I: Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis. 2005, 34: 257-263. 10.1016/j.bcmd.2004.12.008.
Article
CAS
PubMed
Google Scholar
Walne AJ, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y, Al-Qurashi FH, Aljurf M, Dokal I: Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet. 2007, 16: 1619-1629. 10.1093/hmg/ddm111.
Article
CAS
PubMed
PubMed Central
Google Scholar
Vulliamy T, Beswick R, Kirwan M, Marrone A, Digweed M, Walne A, Dokal I: Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita. Proc Natl Acad Sci USA. 2008, 105: 8073-8078. 10.1073/pnas.0800042105.
Article
CAS
PubMed
PubMed Central
Google Scholar
Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP: TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008, 82: 501-509. 10.1016/j.ajhg.2007.10.004.
Article
CAS
PubMed
PubMed Central
Google Scholar
Zhong F, Savage SA, Shkreli M, Giri N, Jessop L, Myers T, Chen R, Alter BP, Artandi SE: Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita. Genes and Development. 2011, 25:
Google Scholar
Dokal I: Dyskeratosis congenita in all its forms. Br J Haematol. 2000, 110: 768-779. 10.1046/j.1365-2141.2000.02109.x.
Article
CAS
PubMed
Google Scholar
Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I: Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood. 2006, 107: 2680-2685. 10.1182/blood-2005-07-2622.
Article
CAS
PubMed
Google Scholar
Joint Statement of the American Thoracic Society and the European Respiratory Society, Idiopathic pulmonary fibrosis: diagnosis and treatment. Am J Respir Crit Care Med. 2000, 161: 646-664.
Diaz de LA, Cronkhite JT, Katzenstein AL, Godwin JD, Raghu G, Glazer CS, Rosenblatt RL, Girod CE, Garrity ER, Xing C, Garcia CK: Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations. PLoS One. 2010, 5: e10680-10.1371/journal.pone.0010680.
Article
Google Scholar
Tsakiri KD, Cronkhite JT, Kuan PJ, Xing C, Raghu G, Weissler JC, Rosenblatt RL, Shay JW, Garcia CK: Adult-onset pulmonary fibrosis caused by mutations in telomerase. Proc Natl Acad Sci USA. 2007, 104: 7552-7557. 10.1073/pnas.0701009104.
Article
CAS
PubMed
PubMed Central
Google Scholar
Mason DP, Brizzio ME, Alster JM, McNeill AM, Murthy SC, Budev MM, Mehta AC, Minai OA, Pettersson GB, Blackstone EH: Lung transplantation for idiopathic pulmonary fibrosis. Ann Thorac Surg. 2007, 84: 1121-1128. 10.1016/j.athoracsur.2007.04.096.
Article
PubMed
Google Scholar
Faro A, Mallory GB, Visner GA, Elidemir O, Mogayzel PJ, Danziger-Isakov L, Michaels M, Sweet S, Michelson P, Paranjape S, Conrad C, Waltz DA: American Society of Transplantation executive summary on pediatric lung transplantation. Am J Transplant. 2007, 7: 285-292. 10.1111/j.1600-6143.2006.01612.x.
Article
CAS
PubMed
Google Scholar
Pechet TV, de le MM, Mendeloff EN, Sweet SC, Shapiro SD, Huddleston CB: Lung transplantation in children following treatment for malignancy. J Heart Lung Transplant. 2003, 22: 154-160. 10.1016/S1053-2498(02)00671-X.
Article
PubMed
Google Scholar
Armanios M, Chen JL, Chang YP, Brodsky RA, Hawkins A, Griffin CA, Eshleman JR, Cohen AR, Chakravarti A, Hamosh A, Greider CW: Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita. Proc Natl Acad Sci USA. 2005, 102: 15960-15964. 10.1073/pnas.0508124102.
Article
CAS
PubMed
PubMed Central
Google Scholar
Marrone A, Sokhal P, Walne A, Beswick R, Kirwan M, Killick S, Williams M, Marsh J, Vulliamy T, Dokal I: Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations. Haematologica. 2007, 92: 1013-1020. 10.3324/haematol.11407.
Article
CAS
PubMed
PubMed Central
Google Scholar
Basel-Vanagaite L, Dokal I, Tamary H, Avigdor A, Garty BZ, Volkov A, Vulliamy T: Expanding the clinical phenotype of autosomal dominant dyskeratosis congenita caused by TERT mutations. Haematologica. 2008, 93: 943-944. 10.3324/haematol.12317.
Article
CAS
PubMed
Google Scholar
Calado RT, Regal JA, Kleiner DE, Schrump DS, Peterson NR, Pons V, Chanock SJ, Lansdorp PM, Young NS: A spectrum of severe familial liver disorders associate with telomerase mutations. PLoS One. 2009, 4: e7926-10.1371/journal.pone.0007926.
Article
PubMed
PubMed Central
Google Scholar
Amarasinghe K, Dalley C, Dokal I, Laurie A, Gupta V, Marsh J: Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan. Bone Marrow Transplant. 2007, 40: 913-914. 10.1038/sj.bmt.1705839.
Article
CAS
PubMed
Google Scholar
Armanios MY, Chen JJ, Cogan JD, Alder JK, Ingersoll RG, Markin C, Lawson WE, Xie M, Vulto I, Phillips JA, Lansdorp PM, Greider CW, Loyd JE: Telomerase mutations in families with idiopathic pulmonary fibrosis. N Engl J Med. 2007, 356: 1317-1326. 10.1056/NEJMoa066157.
Article
CAS
PubMed
Google Scholar
Dietz AC, Orchard PJ, Baker KS, Giller RH, Savage SA, Alter BP, Tolar J: Disease-specific hematopoietic cell transplantation: nonmyeloablative conditioning regimen for dyskeratosis congenita. Bone Marrow Transplant. 2010
Google Scholar
Vuong LG, Hemmati PG, Neuburger S, Terwey TH, Vulliamy T, Dokal I, le Coutre P, Dörken B, Arnold R: Reduced-intensity conditioning using fludarabine and antithymocyte globulin alone allows stable engraftment in a patient with dyskeratosis congenita. Acta Haematol. 2010, 124: 200-203. 10.1159/000318721.
Article
CAS
PubMed
Google Scholar
Elizur A, Faro A, Huddleston CB, Gandhi SK, White D, Kuklinski CA, Sweet SC: Lung transplantation in infants and toddlers from 1990 to 2004 at St. Louis Children's Hospital. Am J Transplant. 2009, 9: 719-726. 10.1111/j.1600-6143.2009.02552.x.
Article
CAS
PubMed
Google Scholar
Aurora P, Edwards LB, Kucheryavaya AY, Christie JD, Dobbels F, Kirk R, Rahmel AO, Stehlik J, Hertz MI: The Registry of the International Society for Heart and Lung Transplantation: thirteenth official pediatric lung and heart-lung transplantation report--2010. J Heart Lung Transplant. 2010, 29: 1129-1141. 10.1016/j.healun.2010.08.008.
Article
PubMed
Google Scholar
Koszewski BJ, Hubbard TF: Congenital anemia in hereditary ectodermal dysplasia. AMA Arch Derm. 1956, 74: 159-166.
Article
PubMed
Google Scholar
Bryan HG, Nixon RK: Dyskeratosis congenita and familial pancytopenia. JAMA. 1965, 192: 203-208.
Article
CAS
PubMed
Google Scholar
Inoue S, Mekanik G, Mahallati M, Zuelzer WW: Dyskeratosis congenita with pancytopenia. Another constitutional anemia. Am J Dis Child. 1973, 126: 389-396.
Article
CAS
PubMed
Google Scholar
Robledo AA, Gomez F, Tojo SR, Larripa P: Dyskeratosis congenita Zinsser-Cole-Engmann form with abnormal karyotype. Dermatologica. 1974, 148: 98-103. 10.1159/000251605.
Article
Google Scholar
Paul SR, Perez-Atayde A, Williams DA: Interstitial pulmonary disease associated with dyskeratosis congenita. Am J Pediatr Hematol Oncol. 1992, 14: 89-92. 10.1097/00043426-199221000-00015.
Article
CAS
PubMed
Google Scholar
Verra F, Kouzan S, Saiag P, Bignon J, de CH: Bronchoalveolar disease in dyskeratosis congenita. Eur Respir J. 1992, 5: 497-499.
CAS
PubMed
Google Scholar
Imokawa S, Sato A, Toyoshima M, Yoshitomi A, Tamura R, Suda T, Suganuma H, Yagi T, Iwata M, Hayakawa H, Chida K: Dyskeratosis congenita showing usual interstitial pneumonia. Intern Med. 1994, 33: 226-230. 10.2169/internalmedicine.33.226.
Article
CAS
PubMed
Google Scholar
Yel L, Tezcan I, Sanal O, Ersoy F, Berkel AI: Dyskeratosis congenita: unusual onset with isolated neutropenia at an early age. Acta Paediatr Jpn. 1996, 38: 288-290.
Article
CAS
PubMed
Google Scholar
Kilic S, Kose H, Ozturk H: Pulmonary involvement in a patient with dyskeratosis congenita. Pediatr Int. 2003, 45: 740-742. 10.1111/j.1442-200X.2003.01820.x.
Article
PubMed
Google Scholar
Devriendt K, Matthijs G, Legius E, Schollen E, Blockmans D, van Geet C, Degreef H, Cassiman JJ, Fryns JP: Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita. Am J Hum Genet. 1997, 60: 581-587.
CAS
PubMed
PubMed Central
Google Scholar
Vanbiervliet P, Blockmans D, Bobbaers H: Dyskeratosis congenita and associated interstitial lung disease: a case report. Acta Clin Belg. 1998, 53: 198-202.
CAS
PubMed
Google Scholar
Nakamura Y, Iwata M, Ida M, Oda S, Takeuchi E, Asada K, Nakano H, Horiguchi T, Ooi S, Sato A: [A case of dyskeratosis congenita with acute interstitial pneumonia]. Nihon Kyobu Shikkan Gakkai Zasshi. 1997, 35: 985-990.
CAS
PubMed
Google Scholar
Safa WF, Lestringant GG, Frossard PM: X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation. Thorax. 2001, 56: 891-894. 10.1136/thorax.56.11.891.
Article
CAS
PubMed
PubMed Central
Google Scholar
Hafsaoui C, Mahammedi H, Manzoni P, Aubin F, Dupond JL: [Dyskeratosis congenita and diffuse lung fibrosis]. Rev Med Interne. 2004, 25: 395-396. 10.1016/j.revmed.2003.08.009.
Article
CAS
PubMed
Google Scholar
Utz JP, Ryu JH, Myers JL, Michels VV: Usual interstitial pneumonia complicating dyskeratosis congenita. Mayo Clin Proc. 2005, 80: 817-821. 10.4065/80.6.817.
Article
PubMed
Google Scholar
Castori M, Ceccarini C, Castiglia D, Ruggeri S, Dallapiccola B, Zambruno G: Delayed diagnosis of dyskeratosis congenita in a 40-year-old woman with multiple head and neck squamous cell carcinomas. Br J Dermatol. 2007, 156: 406-408. 10.1111/j.1365-2133.2006.07661.x.
Article
CAS
PubMed
Google Scholar
Reimann C, Kloeckener-Gruissem B, Niemeyer CM, Vanscheidt W: Late manifestation of dyskeratosis congenita presenting as chronic dermal ulcer in a 37-year-old man. J Eur Acad Dermatol Venereol. 2008, 22: 897-898. 10.1111/j.1468-3083.2007.02530.x.
Article
CAS
PubMed
Google Scholar
Walne AJ, Vulliamy T, Beswick R, Kirwan M, Dokal I: TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood. 2008, 112: 3594-3600. 10.1182/blood-2008-05-153445.
Article
CAS
PubMed
PubMed Central
Google Scholar
Boueiz A, Abougergi MS, Noujeim C, Assaf EB, Jamaleddine G: Fatal bilateral pneumothoraces complicating dyskeratosis congenita: a case report. J Med Case Reports. 2009, 3: 6622-10.1186/1752-1947-3-6622.
Article
PubMed Central
Google Scholar
Knudson M, Kulkarni S, Ballas ZK, Bessler M, Goldman F: Association of immune abnormalities with telomere shortening in autosomal-dominant dyskeratosis congenita. Blood. 2005, 105: 682-688. 10.1182/blood-2004-04-1673.
Article
CAS
PubMed
Google Scholar
Ling NS, Fenske NA, Julius RL, Espinoza CG, Drake LA: Dyskeratosis congenita in a girl simulating chronic graft-vs-host disease. Arch Dermatol. 1985, 121: 1424-1428. 10.1001/archderm.121.11.1424.
Article
CAS
PubMed
Google Scholar
Langston AA, Sanders JE, Deeg HJ, Crawford SW, Anasetti C, Sullivan KM, Flowers ME, Storb R: Allogeneic marrow transplantation for aplastic anaemia associated with dyskeratosis congenita. Br J Haematol. 1996, 92: 758-765. 10.1046/j.1365-2141.1996.424984.x.
Article
CAS
PubMed
Google Scholar
Conter V, Johnson FL, Paolucci P, Ruggiero M, Janco RL: Bone Marrow Transplantation for Aplastic Anemia Associated with Dyskeratosis Congenita. Am J Pediatr Hematol Oncol. 1988, 10: 99-102. 10.1097/00043426-198822000-00002.
Article
Google Scholar
Yabe M, Yabe H, Hattori K, Morimoto T, Hinohara T, Takakura I, Shimizu T, Shimamura K, Tang X, Kato S: Fatal interstitial pulmonary disease in a patient with dyskeratosis congenita after allogeneic bone marrow transplantation. Bone Marrow Transplant. 1997, 19: 389-392. 10.1038/sj.bmt.1700674.
Article
CAS
PubMed
Google Scholar
Rocha V, Devergie A, Socie G, Ribaud P, Esperou H, Parquet N, Gluckman E: Unusual complications after bone marrow transplantation for dyskeratosis congenita. Br J Haematol. 1998, 103: 243-248. 10.1046/j.1365-2141.1998.00949.x.
Article
CAS
PubMed
Google Scholar
Davidovich E, Eimerl D, Aker M, Shapira J, Peretz B: Dyskeratosis congenita: dental management of a medically complex child. Pediatr Dent. 2005, 27: 244-248.
PubMed
Google Scholar
Amarasinghe K, Dalley C, Dokal I, Laurie A, Gupta V, Marsh J: Late death after unrelated-BMT for dyskeratosis congenita following conditioning with alemtuzumab, fludarabine and melphalan. Bone Marrow Transplant. 2007, 40: 913-914. 10.1038/sj.bmt.1705839.
Article
CAS
PubMed
Google Scholar