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Dyskeratosis Congenita

• Savage SA, Dokal I, Armanios M, Aubert G, Cowen EW, Domingo DL, Giri N, Greene MH, Orchard PJ, Tolar J, Tsilou E, Van Waes C, Wong JM, Young NS, Alter BP. Dyskeratosis congenita: The first NIH clinical research workshop. Pediatr Blood Cancer 2009 May 4.
• Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood 2009 Apr 7.
• Savage SA, Alter BP. Dyskeratosis congenita. Hematol Oncol Clin North Am 2009 Apr;23(2):215-31.
• Al-Rahawan MM, Alter BP, Bryant BJ, Elghetany MT. Bone marrow cell cycle markers in inherited bone marrow failure syndromes. Leuk Res 2008 Dec;32(12):1793-9.
• Atkinson JC, Harvey KE, Domingo DL, Trujillo MI, Guadagnini JP, Gollins S, Giri N, Hart TC, Alter BP. Oral and dental phenotype of dyskeratosis congenita. Oral Dis 2008 Jul;14(5):419-27.
• 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 Feb;82(2):501-9.
• Savage SA, Alter BP. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev 2008 Jan-Feb;129(1-2):35-47. Review.
• 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 Sep 1;110(5):1439-47.
• Giri N, Pitel PA, Green D, Alter BP. Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor. Br J Haematol 2007 Sep;138(6):815-7.
• Savage SA, Stewart BJ, Weksler BB, Baerlocher GM, Lansdorp PM, Chanock SJ, Alter BP. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 2006 Sep-Oct;37(2):134-6.
• Braun M, Giri N, Alter BP, Cowen EW. Thrombocytopenia, multiple mucosal squamous cell carcinomas, and dyspigmentation. J Am Acad Dermatol 2006 Jun;54(6):1056-9.
• Al-Rahawan MM, Giri N, Alter BP. Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita. Int J Hematol 2006 Apr;83(3):275-6.
• Alter BP. Bone marrow failure syndromes in children. Pediatr Clin North Am 2002 Oct;49(5):973-88. Review.

Telomere Genetics

• 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 Feb;82(2):501-9.
• Savage SA, Alter BP. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev 2008 Jan-Feb;129(1-2):35-47. Review.
• Savage SA, Chanock SJ, Lissowska J, Brinton LA, Richesson D, Peplonska B, Bardin-Mikolajczak A, Zatonski W, Szeszenia-Dabrowska N, Garcia-Closas M. Genetic variation in five genes important in telomere biology and risk for breast cancer. Br J Cancer 2007 Sep 17;97(6):832-6.
• Savage SA, Stewart BJ, Weksler BB, Baerlocher GM, Lansdorp PM, Chanock SJ, Alter BP. Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure. Blood Cells Mol Dis 2006 Sep-Oct;37(2):134-6.
• Savage SA, Calado RT, Xin ZT, Ly H, Young NS, Chanock SJ. Genetic variation in telomeric repeat binding factors 1 and 2 in aplastic anemia. Exp Hematol 2006 May;34(5):664-71.
• Savage SA, Stewart BJ, Eckert A, Kiley M, Liao JS, Chanock SJ. Genetic variation, nucleotide diversity, and linkage disequilibrium in seven telomere stability genes suggest that these genes may be under constraint. Hum Mutat 2005 Oct;26(4):343-50.
• Savage SA, Stewart BJ, Liao JS, Helman LJ, Chanock SJ. Telomere stability genes are not mutated in osteosarcoma cell lines. Cancer Genet Cytogenet 2005 Jul 1;160(1):79-81.

Telomere Length

• Mirabello L, Huang WY, Wong JY, Chatterjee N, Reding D, David Crawford E, De Vivo I, Hayes RB, Savage SA. The association between leukocyte telomere length and cigarette smoking, dietary and physical variables, and risk of prostate cancer. Aging Cell 2009 Jun 1.
• Savage SA, Alter BP. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev 2008 Jan-Feb;129(1-2):35-47. Review.
• 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 Sep 1;110(5):1439-47.