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A novel β(0)-thalassemia frameshift mutation: [HBB:c.216delT].
Konialis C, Hagnefelt B, Sevastidou S, Pispili K, Pangalos C. Konialis C, et al. Among authors: pangalos c. Hemoglobin. 2012;36(6):586-8. doi: 10.3109/03630269.2012.736442. Epub 2012 Oct 29. Hemoglobin. 2012. PMID: 23106651
Successful hematopoietic stem cell transplantation in 2 children with X-linked chronic granulomatous disease from their unaffected HLA-identical siblings selected using preimplantation genetic diagnosis combined with HLA typing.
Goussetis E, Konialis CP, Peristeri I, Kitra V, Dimopoulou M, Petropoulou T, Vessalas G, Papassavas A, Tzanoudaki M, Kokkali G, Petrakou E, Spiropoulos A, Pangalos CG, Pantos K, Graphakos S. Goussetis E, et al. Biol Blood Marrow Transplant. 2010 Mar;16(3):344-9. doi: 10.1016/j.bbmt.2009.10.010. Epub 2009 Oct 14. Biol Blood Marrow Transplant. 2010. PMID: 19835970 Free article.
Prenatal diagnosis of X-linked myopathy associated with a VMA21 gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings.
Konialis C, Assimakopoulos E, Hagnefelt B, Karapanou S, Sotiriadis A, Pangalos C. Konialis C, et al. Among authors: pangalos c. Clin Case Rep. 2017 Feb 4;5(3):308-311. doi: 10.1002/ccr3.822. eCollection 2017 Mar. Clin Case Rep. 2017. PMID: 28265396 Free PMC article.
43 results