Comprehensive Molecular Analysis of DMD Gene Increases the Diagnostic Value of Dystrophinopathies: A Pilot Study in a Southern Italy Cohort of Patients.
Diagnostics (Basel, Switzerland)
De Palma, Fatima Domenica Elisa FDE; Nunziato, Marcella M; D'Argenio, Valeria V; Savarese, Maria M; Esposito, Gabriella G; Salvatore, Francesco F
Publication Date: 2021-10-15
Variant appearance in text: DMD: 9649+15T>C; rs2293668
A novel DMD intronic alteration: a potentially disease-causing variant of an intermediate muscular dystrophy phenotype.
Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology
Santin, Ricardo R; Vieira, Igor Araujo IA; Nunes, Jean Costa JC; Benevides, Maria Luiza ML; Quadros, Fernanda F; Brusius-Facchin, Ana Carolina AC; Macedo, Gabriel G; Bertoni, Ana Paula Santin APS
Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.
Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Stem Cell Reports
Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC
The dystrophin gene and cognitive function in the general population.
European Journal Of Human Genetics : Ejhg
Vojinovic, Dina D; Adams, Hieab H H HH; van der Lee, Sven J SJ; Ibrahim-Verbaas, Carla A CA; Brouwer, Rutger R; van den Hout, Mirjam C G N MC; Oole, Edwin E; van Rooij, Jeroen J; Uitterlinden, Andre A; Hofman, Albert A; van IJcken, Wilfred F J WF; Aartsma-Rus, Annemieke A; van Ommen, GertJan B GB; Ikram, M Arfan MA; van Duijn, Cornelia M CM; Amin, Najaf N