Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing
Weisschuh, Nicole, Mayer, Anja K, Strom, Tim M, Kohl, Susanne, Glöckle, Nicola, Schubach, Max, Andreasson, Sten, Bernd, Antje, Birch, David G, Hamel, Christian P, Heckenlively, John R, Jacobson, Samuel G, Kamme, Christina, Kellner, Ulrich, Kunstmann, Erdmute, Maffei, Pietro, Reiff, Charlotte M, Rohrschneider, Klaus, Rosenberg, Thomas, Rudolph, Günther, Vámos, Rita, Varsányi, Balázs, Weleber, Richard G, Wissinger, Bernd
Published in PloS one (14.01.2016)
Published in PloS one (14.01.2016)
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A case report of Sanfilippo syndrome - the long way to diagnosis
Lorenz, Delia, Musacchio, Thomas, Kunstmann, Erdmute, Grauer, Eva, Pluta, Natalie, Stock, Annika, Speer, Christian P, Hebestreit, Helge
Published in BMC neurology (15.03.2022)
Published in BMC neurology (15.03.2022)
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Journal Article
Rare copy number variants are a common cause of short stature
Zahnleiter, Diana, Uebe, Steffen, Ekici, Arif B, Hoyer, Juliane, Wiesener, Antje, Wieczorek, Dagmar, Kunstmann, Erdmute, Reis, André, Doerr, Helmuth-Guenther, Rauch, Anita, Thiel, Christian T
Published in PLoS genetics (01.03.2013)
Published in PLoS genetics (01.03.2013)
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Journal Article
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature
Hauer, Nadine N, Popp, Bernt, Taher, Leila, Vogl, Carina, Dhandapany, Perundurai S, Büttner, Christian, Uebe, Steffen, Sticht, Heinrich, Ferrazzi, Fulvia, Ekici, Arif B, De Luca, Alessandro, Klinger, Patrizia, Kraus, Cornelia, Zweier, Christiane, Wiesener, Antje, Jamra, Rami Abou, Kunstmann, Erdmute, Rauch, Anita, Wieczorek, Dagmar, Jung, Anna-Marie, Rohrer, Tilman R, Zenker, Martin, Doerr, Helmuth-Guenther, Reis, André, Thiel, Christian T
Published in European journal of human genetics : EJHG (01.07.2019)
Published in European journal of human genetics : EJHG (01.07.2019)
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Journal Article
Genotype-Phenotype Comparison of German MLH1 and MSH2 Mutation Carriers Clinically Affected With Lynch Syndrome: A Report by the German HNPCC Consortium
GOECKE, Timm, SCHULMANN, Karsten, DIETMAIER, Wolfgang, MANGOLD, Elisabeth, FRIEDRICHS, Nicolaus, PROPPING, Peter, KRÜGER, Stefan, GEBERT, Johannes, SCHMIEGEL, Wolff, RUESCHOFF, Josef, LOEFFLER, Markus, MOESLEIN, Gabriela, ENGEL, Christoph, HOLINSKI-FEDER, Eike, PAGENSTECHER, Constanze, SCHACKERT, Hans K, KLOOR, Matthias, KUNSTMANN, Erdmute, VOGELSANG, Holger, KELLER, Gisela
Published in Journal of clinical oncology (10.09.2006)
Published in Journal of clinical oncology (10.09.2006)
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Journal Article
Free Recombination within Helicobacter pylori
Suerbaum, Sebastian, Smith, John Maynard, Bapumia, Khairun, Morelli, Giovanna, Smith, Noel H., Kunstmann, Erdmute, Dyrek, Isabelle, Achtman, Mark
Published in Proceedings of the National Academy of Sciences - PNAS (13.10.1998)
Published in Proceedings of the National Academy of Sciences - PNAS (13.10.1998)
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Journal Article
HNPCC-associated small bowel cancer: clinical and molecular characteristics
Schulmann, Karsten, Brasch, Frank E, Kunstmann, Erdmute, Engel, Christoph, Pagenstecher, Constanze, Vogelsang, Holger, Krüger, Stefan, Vogel, Tilman, Knaebel, Hanns-Peter, Rüschoff, Josef, Hahn, Stephan A, Knebel-Doeberitz, Magnus V, Moeslein, Gabriela, Meltzer, Stephen J, Schackert, Hans K, Tympner, Christiane, Mangold, Elisabeth, Schmiegel, Wolff
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2005)
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2005)
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Journal Article
Use of Targeted High-Throughput Sequencing for Genetic Classification of Patients with Bleeding Diathesis and Suspected Platelet Disorder
Andres, Oliver, König, Eva-Maria, Althaus, Karina, Bakchoul, Tamam, Bugert, Peter, Eber, Stefan, Knöfler, Ralf, Kunstmann, Erdmute, Manukjan, Georgi, Meyer, Oliver, Strauß, Gabriele, Streif, Werner, Thiele, Thomas, Wiegering, Verena, Klopocki, Eva, Schulze, Harald
Published in TH open : companion journal to thrombosis and haemostasis (01.10.2018)
Published in TH open : companion journal to thrombosis and haemostasis (01.10.2018)
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Journal Article
Microsatellite instability of selective target genes in HNPCC-associated colon adenomas
WOERNER, Stefan M, KLOOR, Matthias, PAGENSTECHER, Constanze, SCHACKERT, Hans K, MÖSLEIN, Gabriela, VOGELSANG, Holger, VON KNEBEL DOEBERITZ, Magnus, GEBERT, Johannes F, MUELLER, Annegret, RUESCHOFF, Josef, FRIEDRICHS, Nicolaus, BUETTNER, Reinhard, BUZELLO, Moriz, KIENLE, Peter, KNAEBEL, Hanns-Peter, KUNSTMANN, Erdmute
Published in Oncogene (07.04.2005)
Published in Oncogene (07.04.2005)
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Journal Article
A nonsense mutation in SUFU associated with multiple infundibulocystic basal cell carcinomas
Dege, Tassilo, Maurus, Katja, Kneitz, Hermann, Presser, Dagmar, Kunstmann, Erdmute, Schilling, Bastian
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.11.2023)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.11.2023)
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Journal Article
Nonsense‐Mutation in SUFU ist mit multiplen infundibulozystischen Basalzellkarzinomen assoziiert
Dege, Tassilo, Maurus, Katja, Kneitz, Hermann, Presser, Dagmar, Kunstmann, Erdmute, Schilling, Bastian
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.11.2023)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.11.2023)
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Journal Article
Nonsense‐Mutation in SUFU ist mit multiplen infundibulozystischen Basalzellkarzinomen assoziiert: A nonsense mutation in SUFU associated with multiple infundibulocystic basal cell carcinomas
Dege, Tassilo, Maurus, Katja, Kneitz, Hermann, Presser, Dagmar, Kunstmann, Erdmute, Schilling, Bastian
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.11.2023)
Published in Journal der Deutschen Dermatologischen Gesellschaft (01.11.2023)
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Journal Article
Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature
Hauer, Nadine N, Popp, Bernt, Schoeller, Eva, Schuhmann, Sarah, Heath, Karen E, Hisado-Oliva, Alfonso, Klinger, Patricia, Kraus, Cornelia, Trautmann, Udo, Zenker, Martin, Zweier, Christiane, Wiesener, Antje, Abou Jamra, Rami, Kunstmann, Erdmute, Wieczorek, Dagmar, Uebe, Steffen, Ferrazzi, Fulvia, Büttner, Christian, Ekici, Arif B, Rauch, Anita, Sticht, Heinrich, Dörr, Helmuth-Günther, Reis, André, Thiel, Christian T
Published in Genetics in medicine (01.06.2018)
Published in Genetics in medicine (01.06.2018)
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Journal Article
Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia
Seefried, Lothar, Baumann, Jasmin, Hemsley, Sarah, Hofmann, Christine, Kunstmann, Erdmute, Kiese, Beate, Huang, Yue, Chivers, Simon, Valentin, Marie-Anne, Borah, Babul, Roubenoff, Ronenn, Junker, Uwe, Jakob, Franz
Published in The Journal of clinical investigation (01.06.2017)
Published in The Journal of clinical investigation (01.06.2017)
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Heterogeneous phenotypes in families with duplications of the paternal allele within the imprinting center 1 (H19/IGF2:TSS‐DMR) in 11p15.5
Eggermann, Thomas, Kraft, Florian, Kloth, Katja, Klopocki, Eva, Hüning, Irina, Hempel, Maja, Kunstmann, Erdmute
Published in Clinical genetics (01.10.2020)
Published in Clinical genetics (01.10.2020)
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Journal Article
The Alazami Syndrome-Associated Protein LARP7 Guides U6 Small Nuclear RNA Modification and Contributes to Splicing Robustness
Hasler, Daniele, Meduri, Rajyalakshmi, Bąk, Maciej, Lehmann, Gerhard, Heizinger, Leonhard, Wang, Xin, Li, Zhi-Tong, Sement, François M., Bruckmann, Astrid, Dock-Bregeon, Anne-Catherine, Merkl, Rainer, Kalb, Reinhard, Grauer, Eva, Kunstmann, Erdmute, Zavolan, Mihaela, Liu, Mo-Fang, Fischer, Utz, Meister, Gunter
Published in Molecular cell (05.03.2020)
Published in Molecular cell (05.03.2020)
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Journal Article
Spectrum and frequencies of mutations inMSH2 andMLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer
Mangold, Elisabeth, Pagenstecher, Constanze, Friedl, Waltraut, Mathiak, Micaela, Buettner, Reinhard, Engel, Christoph, Loeffler, Markus, Holinski-Feder, Elke, Müller-Koch, Yvonne, Keller, Gisela, Schackert, Hans K., Krüger, Stefan, Goecke, Timm, Moeslein, Gabriela, Kloor, Matthias, Gebert, Johannes, Kunstmann, Erdmute, Schulmann, Karsten, Rüschoff, Josef, Propping, Peter
Published in International journal of cancer (20.09.2005)
Published in International journal of cancer (20.09.2005)
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Journal Article
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers
MENCACCI, Niccolò E, ISAIAS, Ioannis U, NOYCE, Alastair J, MOK, Kin Y, OPLADEN, Thomas, KUNSTMANN, Erdmute, HODECKER, Sybille, MÜNCHAU, Alexander, VOLKMANN, Jens, SAMNICK, Samuel, SIDLE, Katie, NANJI, Tina, REICH, Martin M, SWEENEY, Mary G, HOULDEN, Henry, BATLA, Amit, ZECCHINELLI, Anna L, PEZZOLI, Gianni, MAROTTA, Giorgio, LEES, Andrew, ALEGRIA, Paulo, KRACK, Paul, CORMIER-DEQUAIRE, Florence, GANOS, Christos, LESAGE, Suzanne, BRICE, Alexis, HEUTINK, Peter, GASSER, Thomas, LUBBE, Steven J, MORRIS, Huw R, TABA, Pille, KOKS, Sulev, MAJOUNIE, Elisa, GIBBS, J. Raphael, PLAGNOL, Vincent, SINGLETON, Andrew, HARDY, John, KLEBE, Stephan, BHATIA, Kailash P, WOOD, Nicholas W, POLKE, James M, BRAS, Jose, HERSHESON, Joshua, STAMELOU, Maria, PITTMAN, Alan M
Published in Brain (London, England : 1878) (01.09.2014)
Published in Brain (London, England : 1878) (01.09.2014)
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Journal Article
Painful Charcot–Marie–Tooth neuropathy type 2E/1F due to a novel NEFL mutation
Doppler, Kathrin, Kunstmann, Erdmute, Krüger, Stefan, Sommer, Claudia
Published in Muscle & nerve (01.05.2017)
Published in Muscle & nerve (01.05.2017)
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