Kliniken & Institute … Institute Humangenetik Forschung Abt. Humangenetik Forschungsgruppe… Publikationen

Ausgewählte Publikationen

 

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 17, no. 1 (2016): 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 (Lond), (2016).

Kastner, B., S. Behre, N. Lutz, F. Burger, S. Luntz, K. Hinderhofer, M. Bendszus, G. F. Hoffmann and M. Ries. "Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards' Responses." PLoS One 10, no. 8 (2015): e0135997.

Stuhlmuller, M., J. Schwarz-Finsterle, E. Fey, J. Lux, M. Bach, C. Cremer, K. Hinderhofer, M. Hausmann and G. Hildenbrand. "In Situ Optical Sequencing and Structure Analysis of a Trinucleotide Repeat Genome Region by Localization Microscopy after Specific Combo-Fish Nano-Probing." Nanoscale 7, no. 42 (2015): 17938-46.

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).

Gramer, G., G. Haege, J. Fang-Hoffmann, G. F. Hoffmann, C. R. Bartram, K. Hinderhofer, P. Burgard and M. Lindner. "Medium-Chain Acyl-Coa Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening." JIMD Rep 23,  (2015): 101-12.

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 29 (2015): 323-329.

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 10, no. 7 (2015): e0133042.

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 9, no. 3 (2014): e91374.