메뉴 건너뛰기




Volumn 55, Issue 6, 2010, Pages 1185-1186

A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex

Author keywords

Bone marrow failure; Dyskeratosis congenita; Dystrophic nails; TINF2

Indexed keywords

METHYLPREDNISOLONE; OXYMETHOLONE;

EID: 77958603527     PISSN: 15455009     EISSN: 15455017     Source Type: Journal    
DOI: 10.1002/pbc.22624     Document Type: Article
Times cited : (16)

References (10)
  • 1
    • 39049092675 scopus 로고    scopus 로고
    • The role of telomere biology in bone marrow failure and other disorders
    • Savage SA, Alter BP. The role of telomere biology in bone marrow failure and other disorders. Mech Ageing Dev 2008; 129: 35-47.
    • (2008) Mech Ageing Dev , vol.129 , pp. 35-47
    • Savage, S.A.1    Alter, B.P.2
  • 2
    • 55749094159 scopus 로고    scopus 로고
    • TINF2 mutations result in very short telomeres: Analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes
    • Walne AJ, Vulliamy T, Beswick R, et al. 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.
    • (2008) Blood , vol.112 , pp. 3594-3600
    • Walne, A.J.1    Vulliamy, T.2    Beswick, R.3
  • 3
    • 38349144367 scopus 로고    scopus 로고
    • Dyskeratosis congenita: A genetic disorder of many faces
    • Kirwan M, Dokal I. Dyskeratosis congenita: A genetic disorder of many faces. Clin Genet 2008; 73: 103-112.
    • (2008) Clin Genet , vol.73 , pp. 103-112
    • Kirwan, M.1    Dokal, I.2
  • 4
    • 63149186313 scopus 로고    scopus 로고
    • Advances in the understanding of dyskeratosis congenita
    • Walne AJ, Dokal I. Advances in the understanding of dyskeratosis congenita. Br J Haematol 2009; 145: 164-172.
    • (2009) Br J Haematol , vol.145 , pp. 164-172
    • Walne, A.J.1    Dokal, I.2
  • 5
    • 38849204872 scopus 로고    scopus 로고
    • Dyskeratosis congenita: A historical perspective
    • Walne AJ, Dokal I. Dyskeratosis congenita: A historical perspective. Mech Ageing Dev 2008; 129: 48-59.
    • (2008) Mech Ageing Dev , vol.129 , pp. 48-59
    • Walne, A.J.1    Dokal, I.2
  • 6
    • 40749085700 scopus 로고    scopus 로고
    • TINF2 a component of shelterin telomere protection complex, is mutated in dyskeratosis congenita
    • Savage SA, Giri N, Baeloccher GM, et al. TINF2 a component of shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet 2008; 82: 501-509.
    • (2008) Am J Hum Genet , vol.82 , pp. 501-509
    • Savage, S.A.1    Giri, N.2    Baeloccher, G.M.3
  • 7
    • 67651230888 scopus 로고    scopus 로고
    • Dyskeratosis congenita: The first NIH clinical research workshop
    • Savage SA, Dokal I, Armanios M, et al. Dyskeratosis congenita: The first NIH clinical research workshop. Pediatr Blood Cancer 2009; 53: 520-523.
    • (2009) Pediatr Blood Cancer , vol.53 , pp. 520-523
    • Savage, S.A.1    Dokal, I.2    Armanios, M.3
  • 8
    • 0037396165 scopus 로고    scopus 로고
    • Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin
    • Erduran E, Hacisalihoglu S, Ozoran Y. Treatment of dyskeratosis congenita with granulocyte-macrophage colony-stimulating factor and erythropoietin. J Pediatr Hematol Oncol 2003; 25: 333-335.
    • (2003) J Pediatr Hematol Oncol , vol.25 , pp. 333-335
    • Erduran, E.1    Hacisalihoglu, S.2    Ozoran, Y.3
  • 9
    • 74049128730 scopus 로고    scopus 로고
    • Intracranial hemorrhage (ICH) in children with immune thrombocytopenia (ITP): Study of 40 cases
    • Psaila B, Petrovic A, Page LK, et al. Intracranial hemorrhage (ICH) in children with immune thrombocytopenia (ITP): Study of 40 cases. Blood 2009; 114: 4777-4783.
    • (2009) Blood , vol.114 , pp. 4777-4783
    • Psaila, B.1    Petrovic, A.2    Page, L.K.3
  • 10
    • 49249121204 scopus 로고    scopus 로고
    • Retinal hemorrhages in a patient with dyskeratosis congenita
    • Nazir S, Sayani N, Phillips PH. Retinal hemorrhages in a patient with dyskeratosis congenita. J AAPOS 2008; 12: 415-417.
    • (2008) J AAPOS , vol.12 , pp. 415-417
    • Nazir, S.1    Sayani, N.2    Phillips, P.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.