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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: karapanou s. 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.
Routine application of a novel MLPA-based first-line screening test uncovers clinically relevant copy number aberrations in haematological malignancies undetectable by conventional cytogenetics.
Konialis C, Savola S, Karapanou S, Markaki A, Karabela M, Polychronopoulou S, Ampatzidou M, Voulgarelis M, Viniou NA, Variami E, Koumarianou A, Zoi K, Hagnefelt B, Schouten JP, Pangalos C. Konialis C, et al. Among authors: karapanou s. Hematology. 2014 Jun;19(4):217-24. doi: 10.1179/1607845413Y.0000000112. Epub 2013 Nov 25. Hematology. 2014. PMID: 23928116 Free article.