Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features
Lessel, Davor, Vaz, Bruno, Halder, Swagata, Lockhart, Paul J, Marinovic-Terzic, Ivana, Lopez-Mosqueda, Jaime, Philipp, Melanie, Sim, Joe C H, Smith, Katherine R, Oehler, Judith, Cabrera, Elisa, Freire, Raimundo, Pope, Kate, Nahid, Amsha, Norris, Fiona, Leventer, Richard J, Delatycki, Martin B, Barbi, Gotthold, von Ameln, Simon, Högel, Josef, Degoricija, Marina, Fertig, Regina, Burkhalter, Martin D, Hofmann, Kay, Thiele, Holger, Altmüller, Janine, Nürnberg, Gudrun, Nürnberg, Peter, Bahlo, Melanie, Martin, George M, Aalfs, Cora M, Oshima, Junko, Terzic, Janos, Amor, David J, Dikic, Ivan, Ramadan, Kristijan, Kubisch, Christian
Published in Nature genetics (01.11.2014)
Published in Nature genetics (01.11.2014)
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Journal Article
Bioavailability of β‐cryptoxanthin is greater from pasteurized orange juice than from fresh oranges – a randomized cross‐over study
Aschoff, Julian K, Rolke, Christa L, Breusing, Nicolle, Bosy‐Westphal, Anja, Högel, Josef, Carle, Reinhold, Schweiggert, Ralf M
Published in Molecular nutrition & food research (01.10.2015)
Published in Molecular nutrition & food research (01.10.2015)
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Journal Article
Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype‐phenotype correlations
Bianchi, Paola, Schwarz, Klaus, Högel, Josef, Fermo, Elisa, Vercellati, Cristina, Grosse, Regine, Wijk, Richard, Zwieten, Rob, Barcellini, Wilma, Zanella, Alberto, Heimpel, Hermann
Published in British journal of haematology (01.11.2016)
Published in British journal of haematology (01.11.2016)
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Journal Article
Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases
Hübers, Annemarie, Marroquin, Nicolai, Schmoll, Birgit, Vielhaber, Stefan, Just, Marlies, Mayer, Benjamin, Högel, Josef, Dorst, Johannes, Mertens, Thomas, Just, Walter, Aulitzky, Anna, Wais, Verena, Ludolph, Albert C, Kubisch, Christian, Weishaupt, Jochen H, Volk, Alexander E
Published in Neurobiology of aging (01.05.2014)
Published in Neurobiology of aging (01.05.2014)
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Journal Article
Urinary excretion of Citrus flavanones and their major catabolites after consumption of fresh oranges and pasteurized orange juice: A randomized cross-over study
Aschoff, Julian K., Riedl, Ken M., Cooperstone, Jessica L., Högel, Josef, Bosy-Westphal, Anja, Schwartz, Steven J., Carle, Reinhold, Schweiggert, Ralf M.
Published in Molecular nutrition & food research (01.12.2016)
Published in Molecular nutrition & food research (01.12.2016)
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Journal Article
Dysfunction of the MDM2/p53 axis is linked to premature aging
Lessel, Davor, Wu, Danyi, Trujillo, Carlos, Ramezani, Thomas, Lessel, Ivana, Alwasiyah, Mohammad K, Saha, Bidisha, Hisama, Fuki M, Rading, Katrin, Goebel, Ingrid, Schütz, Petra, Speit, Günter, Högel, Josef, Thiele, Holger, Nürnberg, Gudrun, Nürnberg, Peter, Hammerschmidt, Matthias, Zhu, Yan, Tong, David R, Katz, Chen, Martin, George M, Oshima, Junko, Prives, Carol, Kubisch, Christian
Published in The Journal of clinical investigation (01.10.2017)
Published in The Journal of clinical investigation (01.10.2017)
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Journal Article
SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints
Vogt, Julia, Bengesser, Kathrin, Claes, Kathleen B M, Wimmer, Katharina, Mautner, Victor-Felix, van Minkelen, Rick, Legius, Eric, Brems, Hilde, Upadhyaya, Meena, Högel, Josef, Lazaro, Conxi, Rosenbaum, Thorsten, Bammert, Simone, Messiaen, Ludwine, Cooper, David N, Kehrer-Sawatzki, Hildegard
Published in Genome biology (02.06.2014)
Published in Genome biology (02.06.2014)
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Journal Article
De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients
Hübers, Annemarie, Just, Walter, Rosenbohm, Angela, Müller, Kathrin, Marroquin, Nicolai, Goebel, Ingrid, Högel, Josef, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Weishaupt, Jochen H, Kubisch, Christian, Ludolph, Albert C, Volk, Alexander E
Published in Neurobiology of aging (01.11.2015)
Published in Neurobiology of aging (01.11.2015)
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Journal Article
POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome
Lessel, Davor, Hisama, Fuki M., Szakszon, Katalin, Saha, Bidisha, Sanjuanelo, Alexander Barrios, Salbert, Bonnie A., Steele, Pamela D., Baldwin, Jennifer, Brown, W. Ted, Piussan, Charles, Plauchu, Henri, Szilvássy, Judit, Horkay, Edit, Högel, Josef, Martin, George M., Herr, Alan J., Oshima, Junko, Kubisch, Christian
Published in Human mutation (01.11.2015)
Published in Human mutation (01.11.2015)
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Journal Article
Immunohistochemical analysis of sex hormone receptors in squamous changes of the urothelium
Seitz, Julia B, Högel, Josef, Eckstein, Markus, Lieb, Verena, Wullich, Bernd, Hartmann, Arndt, Rieker, Ralf J
Published in International journal of clinical and experimental pathology (01.01.2022)
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Published in International journal of clinical and experimental pathology (01.01.2022)
Journal Article
Normobaric Intermittent Hypoxia over 8 Months Does Not Reduce Body Weight and Metabolic Risk Factors - a Randomized, Single Blind, Placebo-Controlled Study in Normobaric Hypoxia and Normobaric Sham Hypoxia
Gatterer, Hannes, Haacke, Sven, Burtscher, Martin, Faulhaber, Martin, Melmer, Andreas, Ebenbichler, Christoph, Strohl, Kingman P., Högel, Josef, Netzer, Nikolaus C.
Published in Obesity facts (01.06.2015)
Published in Obesity facts (01.06.2015)
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Journal Article
Immune phenotypes predict survival in patients with glioblastoma multiforme
Mostafa, Haouraa, Pala, Andrej, Högel, Josef, Hlavac, Michal, Dietrich, Elvira, Westhoff, M Andrew, Nonnenmacher, Lisa, Burster, Timo, Georgieff, Michael, Wirtz, C Rainer, Schneider, E Marion
Published in Journal of hematology and oncology (01.09.2016)
Published in Journal of hematology and oncology (01.09.2016)
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Journal Article
Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification
Hillmer, Morten, Summerer, Anna, Mautner, Victor‐Felix, Högel, Josef, Cooper, David N., Kehrer‐Sawatzki, Hildegard
Published in Human mutation (01.12.2017)
Published in Human mutation (01.12.2017)
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Journal Article
Gene synteny comparisons between different vertebrates provide new insights into breakage and fusion events during mammalian karyotype evolution
Kemkemer, Claus, Kohn, Matthias, Cooper, David N, Froenicke, Lutz, Högel, Josef, Hameister, Horst, Kehrer-Sawatzki, Hildegard
Published in BMC evolutionary biology (24.04.2009)
Published in BMC evolutionary biology (24.04.2009)
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Journal Article
The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells
HEIMPEL, Hermann, KELLERMANN, Kerstin, NEUSCHWANDER, Nadine, HÖGEL, Josef, SCHWARZ, Klaus
Published in Haematologica (Roma) (01.06.2010)
Published in Haematologica (Roma) (01.06.2010)
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Journal Article
Accelerated aging phenotype in mice with conditional deficiency for mitochondrial superoxide dismutase in the connective tissue
Treiber, Nicolai, Maity, Pallab, Singh, Karmveer, Kohn, Matthias, Keist, Alexander F., Ferchiu, Florentina, Sante, Lea, Frese, Sebastian, Bloch, Wilhelm, Kreppel, Florian, Kochanek, Stefan, Sindrilaru, Anca, Iben, Sebastian, Högel, Josef, Ohnmacht, Michael, Claes, Lutz E., Ignatius, Anita, Chung, Jin H., Lee, Min J., Kamenisch, York, Berneburg, Mark, Nikolaus, Thorsten, Braunstein, Kerstin, Sperfeld, Anne‐Dorte, Ludolph, Albert C., Briviba, Karlis, Wlaschek, Meinhard, Scharffetter‐Kochanek, Karin
Published in Aging cell (01.04.2011)
Published in Aging cell (01.04.2011)
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Journal Article
Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion
Mussotter, Tanja, Bengesser, Kathrin, Högel, Josef, Cooper, David N., Kehrer-Sawatzki, Hildegard
Published in Human genetics (01.04.2014)
Published in Human genetics (01.04.2014)
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Journal Article
Investigations of potential susceptibility toward formaldehyde-induced genotoxicity
Zeller, Jasmin, Högel, Josef, Linsenmeyer, Regina, Teller, Christopher, Speit, Günter
Published in Archives of toxicology (01.09.2012)
Published in Archives of toxicology (01.09.2012)
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