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Dyskeratosis congenita.
Marrone A, Mason PJ. Marrone A, et al. Cell Mol Life Sci. 2003 Mar;60(3):507-17. doi: 10.1007/s000180300042. Cell Mol Life Sci. 2003. PMID: 12737310 Review.
Dyskeratosis congenita is an inherited skin and bone marrow failure syndrome. There are X-linked, autosomal dominant and autosomal recessive forms of the disease. The X-linked form is due to mutations in the DKC1 gene at Xq28. ...
Dyskeratosis congenita is an inherited skin and bone marrow failure syndrome. There are X-linked, autosomal dominant an …
Dyskeratosis congenita: molecular insights into telomerase function, ageing and cancer.
Marrone A, Dokal I. Marrone A, et al. Expert Rev Mol Med. 2004 Dec 20;6(26):1-23. doi: 10.1017/S1462399404008671. Expert Rev Mol Med. 2004. PMID: 15613268 Review.
Dyskeratosis congenita (DC) is a severe, inherited, bone marrow failure syndrome, with associated cutaneous and noncutaneous abnormalities. ...DC can originate through: (1) mutations in DKC1, which result in X-linked recessive DC; (2) mutations in the RNA com …
Dyskeratosis congenita (DC) is a severe, inherited, bone marrow failure syndrome, with associated cutaneous and noncutaneous a …
Dyskeratosis congenita: telomerase, telomeres and anticipation.
Marrone A, Walne A, Dokal I. Marrone A, et al. Curr Opin Genet Dev. 2005 Jun;15(3):249-57. doi: 10.1016/j.gde.2005.04.004. Curr Opin Genet Dev. 2005. PMID: 15917199 Review.
Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. The identification of dyskeratosis congenita gene 1 (DKC1) mutations in X-linked recessive patients initially suggested t …
Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. Th …
Neonatal manifestations of inherited bone marrow failure syndromes.
Khincha PP, Savage SA. Khincha PP, et al. Semin Fetal Neonatal Med. 2016 Feb;21(1):57-65. doi: 10.1016/j.siny.2015.12.003. Epub 2015 Dec 24. Semin Fetal Neonatal Med. 2016. PMID: 26724991 Free PMC article. Review.
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematological manifestations. Many of these syndromes, such as Fanconi anemia, dyskeratosis congenita and Diamond-Blackfan anemia, confer …
The inherited bone marrow failure syndromes (IBMFS) are a rare yet clinically important cause of neonatal hematological and non-hematologica …
Dyskeratosis congenita: a disorder of defective telomere maintenance?
Walne AJ, Marrone A, Dokal I. Walne AJ, et al. Int J Hematol. 2005 Oct;82(3):184-9. doi: 10.1532/IJH97.05067. Int J Hematol. 2005. PMID: 16207588 Review.
Dyskeratosis congenita (DC) is a rare multisystem bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. .. …
Dyskeratosis congenita (DC) is a rare multisystem bone marrow failure syndrome that displays marked clinical and genetic heter …
Inherited bone marrow failure syndromes in adolescents and young adults.
Wilson DB, Link DC, Mason PJ, Bessler M. Wilson DB, et al. Ann Med. 2014 Sep;46(6):353-63. doi: 10.3109/07853890.2014.915579. Epub 2014 Jun 3. Ann Med. 2014. PMID: 24888387 Free PMC article. Review.
The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blood cell lineages. Examples include Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, thrombocytopenia absent ra …
The inherited bone marrow failure syndromes are a diverse group of genetic diseases associated with inadequate production of one or more blo …
Telomere length variation and telomerase activity expression in patients with congenital and acquired aplastic anemia.
Polychronopoulou S, Koutroumba P. Polychronopoulou S, et al. Acta Haematol. 2004;111(3):125-31. doi: 10.1159/000076519. Acta Haematol. 2004. PMID: 15034232 Review.
Furthermore, a strong correlation has been shown between TRF and the severity of aplastic anemia, but not with FA evolution towards myelodysplastic syndrome or acute myeloblastic leukemia. In respect of dyskeratosis congenita (DC), a disease of either X-linked or …
Furthermore, a strong correlation has been shown between TRF and the severity of aplastic anemia, but not with FA evolution towards myelodys …