Molekulargenetik
Im Labor für Molekulargenetische Diagnostik werden neben Routineuntersuchungen auch eine Reihe von Forschungsprojekten bearbeitet. Die diversen gut etablierten molekulargenetischen Methoden wie Next-Generation-Sequencing (NGS), Sangersequenzierung, Microarray-basierte komparative genomische Hybridisierung (Array-CGH), Mikrosatellitenanalyse, Fragmentanalysen, Multiplex Ligation-dependent Probe Amplification (MLPA) und Southern Blot stellen die Basis für eine Reihe von Forschungsprojekten in diversen Kooperationen dar.
Ausgewählte Publikationen
Hinderhofer K., Obermaier C., Hegenbart U., Schönland S., Seidler M., Sommer-Ort I. and Barth U., New sequence variants in patients affected by amyloidosis show transthyretin instability by isoelectric focusing, Amyloid 2019, 10: 1-9
Hinderhofer, K.*, K. Mechler*, G. F. Hoffmann, A. Lampert, W. K. Mountford and M. Ries, Critical Appraisal of Genotype Assessment in Molybdenum Cofactor Deficiency, J Inherit Metab Dis 2017; 40: 801-811
Eichstaedt, C. A., J. Song, N. Benjamin, S. Harutyunova, C. Fischer, E. Grunig and K. Hinderhofer, Eif2ak4 Mutation as "Second Hit" in Hereditary Pulmonary Arterial Hypertension, Respir Res 2016; 17: 141
Song, J., C. A. Eichstaedt, R. Rodriguez Viales, N. Benjamin, S. Harutyunova, C. Fischer, E. Grunig and K. Hinderhofer, Identification of Genetic Defects in Pulmonary Arterial Hypertension by a New Panel Diagnostic, Clin Sci 2016; 130: 2043-2052
Viales, R. R., C. A. Eichstaedt, N. Ehlken, C. Fischer, M. Lichtblau, E. Grunig and K. Hinderhofer, Mutation in Bmpr2 Promoter: A 'Second Hit' for Manifestation of Pulmonary Arterial Hypertension, PLoS One 2015; 10: e0133042
Evers, C., N. Paramasivam, K. Hinderhofer, C. Fischer, M. Granzow, A. Schmidt-Bacher, R. Eils, H. Steinbeisser, M. Schlesner and U. Moog, Sipa1l3 Identified by Linkage Analysis and Whole-Exome Sequencing as a Novel Gene for Autosomal Recessive Congenital Cataract, Eur J Hum Genet 2015; 23: 1627-1633
Granzow, M., N. Paramasivam, K. Hinderhofer, C. Fischer, S. Chotewutmontri, L. Kaufmann, C. Evers, U. Kotzaeridou, K. Rohrschneider, M. Schlesner, M. Sturm, S. Pinkert, R. Eils, C. R. Bartram, P. Bauer and U. Moog, Loss of Function of Pgap1 as a Cause of Severe Encephalopathy Identified by Whole Exome Sequencing: Lessons of the Bioinformatics Pipeline, Mol Cell Probes 2015; 29: 323-329
Hinderhofer, K.*, C. Fischer*, N. Pfarr, J. Szamalek-Hoegel, M. Lichtblau, C. Nagel, B. Egenlauf, N. Ehlken and E. Grunig, Identification of a New Intronic Bmpr2-Mutation and Early Diagnosis of Heritable Pulmonary Arterial Hypertension in a Large Family with Mean Clinical Follow-up of 12 Years, PLoS ONE 2014; 9: e91374