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Number of items: 24.

Journal Article

Al Chawa, Taofik, Ludwig, Kerstin U., Fier, Heide, Poetzsch, Bernd, Reich, Rudolf H., Schmidt, Guel, Braumann, Bert, Daratsianos, Nikolaos ORCID: 0000-0003-2098-0379, Boehmer, Anne C., Schuencke, Hannah, Alblas, Margrieta, Fricker, Nadine, Hoffmann, Per, Knapp, Michael, Lange, Christoph, Noethen, Markus M. and Mangold, Elisabeth (2014). Nonsyndromic Cleft Lip with or without Cleft Palate: Increased Burden of Rare Variants within Gremlin-1, a Component of the Bone Morphogenetic Protein 4 Pathway. Birth Defects Res. Part A-Clin. Mol. Teratol., 100 (6). S. 493 - 499. HOBOKEN: WILEY-BLACKWELL. ISSN 1542-0760

Bamborschke, Daniel, Pergande, Matthias, Daimagueler, Huelya Sevcan, Mangold, Elisabeth, Doetsch, Joerg, Herkenrath, Peter, Cirak, Sebahattin and Fazeli, Walid (2019). Cleft Palate as Distinguishing Feature in a Patient with GABRB3 Epileptic Encephalopathy. Neuropediatrics, 50 (6). S. 378 - 382. STUTTGART: GEORG THIEME VERLAG KG. ISSN 1439-1899

Becker, Jessica, May, Andrea, Gerges, Christian, Anders, Mario, Veits, Lothar, Weise, Katharina, Czamara, Darina, Lyros, Orestis, Manner, Hendrik, Terheggen, Grischa, Venerito, Marino ORCID: 0000-0001-8581-0974, Noder, Tania, Mayershofer, Rupert, Hofer, Jan-Hinnerk, Karch, Hans-Werner, Ahlbrand, Constantin J., Arras, Michael, Hofer, Sebastian, Mangold, Elisabeth, Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Heinrichs, Sophie K. M., Hess, Timo, Kiesslich, Ralf, Izbicki, Jakob R., Hoelscher, Arnulf H., Bollschweiler, Elfriede, Malfertheiner, Peter, Lang, Hauke, Moehler, Markus, Lorenz, Dietmar, Mueller-Myhsok, Bertram, Ott, Katja, Schmidt, Thomas ORCID: 0000-0002-7166-3675, Whiteman, David C., Vaughan, Thomas L., Noethen, Markus M., Hackelsberger, Andreas, Schumacher, Brigitte, Pech, Oliver, Vashist, Yogesh, Vieth, Michael, Weismueller, Josef, Neuhaus, Horst, Roesch, Thomas, Ell, Christian, Gockel, Ines and Schumacher, Johannes ORCID: 0000-0001-9217-6457 (2015). Supportive evidence for FOXP1, BARX1, and FOXF1 as genetic risk loci for the development of esophageal adenocarcinoma. Cancer Med., 4 (11). S. 1700 - 1705. HOBOKEN: WILEY-BLACKWELL. ISSN 2045-7634

Birtel, Johannes, Eisenberger, Tobias, Gliem, Martin, Mueller, Philipp L., Herrmann, Philipp, Betz, Christian, Zahnleiter, Diana, Neuhaus, Christine, Lenzner, Steffen, Holz, Frank G., Mangold, Elisabeth, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2018). Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy. Sci Rep, 8. LONDON: NATURE PUBLISHING GROUP. ISSN 2045-2322

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Mueller, Philipp L., Holz, Frank G., Neuhaus, Christine, Lenzner, Steffen, Zahnleiter, Diana, Betz, Christian, Eisenberger, Tobias, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2018). Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PLoS One, 13 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Mueller, Philipp, Holz, Frank G., Neuhaus, Christine, Wolfrum, Uwe, Bolz, Hanno J. and Issa, Peter Charbel (2017). Novel insights in KIF11-related retinopathy. Invest. Ophthalmol. Vis. Sci., 58 (8). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Muller, Philipp L., Holz, Frank G., Neuhaus, Christine, Wolfruni, Uwe, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2017). Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy. Invest. Ophthalmol. Vis. Sci., 58 (10). S. 3950 - 3960. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Birtel, Johannes, Gliem, Martin, Oishi, Akio ORCID: 0000-0002-0977-9458, Mueller, Philipp L., Herrmann, Philipp, Holz, Frank G., Mangold, Elisabeth, Knapp, Michael, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2019). Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases. Clin. Exp. Ophthalmol., 47 (6). S. 779 - 787. HOBOKEN: WILEY. ISSN 1442-9071

Birtel, Johannes, Mueller, Philipp L., Gliem, Martin, Mangold, Elisabeth, Holz, Frank G., Neuhaus, Christine, Bolz, Hanno Joern and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2016). Clinical evaluation of an intensively genotyped cohort of macular and cone/cone-rod dystrophy patients. Invest. Ophthalmol. Vis. Sci., 57 (12). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Fischer, Bjoern, Dimopoulou, Aikaterini, Egerer, Johannes, Gardeitchik, Thatjana, Kidd, Alexa, Jost, Dominik, Kayserili, Hulya ORCID: 0000-0003-0376-499X, Alanay, Yasemin ORCID: 0000-0003-0683-9731, Tantcheva-Poor, Iliana, Mangold, Elisabeth, Daumer-Haas, Cornelia, Phadke, Shubha ORCID: 0000-0002-6624-082X, Peirano, Reto I., Heusel, Julia, Desphande, Charu, Gupta, Neerja, Nanda, Arti ORCID: 0000-0002-1223-3181, Felix, Emma, Berry-Kravis, Elisabeth, Kabra, Madhulika, Wevers, Ron A. ORCID: 0000-0003-2278-9746, van Maldergem, Lionel, Mundlos, Stefan, Morava, Eva and Kornak, Uwe (2012). Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. Hum. Genet., 131 (11). S. 1761 - 1774. NEW YORK: SPRINGER. ISSN 0340-6717

Gliem, Martin, Mueller, Philipp L., Mangold, Elisabeth, Bolz, Hanno J., Stoehr, Heidi, Weber, Bernhard H. F., Holz, Frank G. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2015). Reticular Pseudodrusen in Sorsby Fundus Dystrophy. Ophthalmology, 122 (8). S. 1555 - 1563. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1549-4713

Gliem, Martin, Mueller, Philipp L., Mangold, Elisabeth, Holz, Frank G., Bolz, Hanno J., Stoehr, Heidi, Weber, Bernhard H. F. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2015). Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcome. Invest. Ophthalmol. Vis. Sci., 56 (4). S. 2664 - 2677. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Gliem, Martin, Mueller, Philipp L., Mangold, Elisabeth, Holz, Frank G., Bolz, Hanno J., Stoehr, Heidi, Weber, Bernhard H. F. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2015). Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcome. Invest. Ophthalmol. Vis. Sci., 56 (4). S. 2664 - 2677. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Heinrichs, Sophie K. M., Hess, Timo, Becker, Jessica, Hamann, Lutz, Vashist, Yogesh K., Butterbach, Katja, Schmidt, Thomas ORCID: 0000-0002-7166-3675, Alakus, Hakan, Krasniuk, Iurii, Hoeblinger, Aksana, Lingohr, Philipp, Ludwig, Monika, Hagel, Alexander F., Schildberg, Claus W., Veits, Lothar, Gyvyte, Ugne ORCID: 0000-0002-1130-2472, Weise, Katharina, Schueller, Vitalia, Boehmer, Anne C., Schroeder, Julia, Gehlen, Jan, Kreuser, Nicole, Hofer, Sebastian, Lang, Hauke, Lordick, Florian, Malfertheiner, Peter, Moehler, Markus, Pech, Oliver, Vassos, Nikolaos, Rodermann, Ernst, Izbicki, Jakob R., Kruschewski, Martin, Ott, Katja, Schumann, Ralf R., Vieth, Michael, Mangold, Elisabeth, Gasenko, Evita, Kupcinskas, Limas, Brenner, Hermann, Grimminger, Peter, Bujanda, Luis, Sopena, Federico, Espinel, Jesus, Thomson, Concha, Perez-Aisa, Angeles, Campo, Rafael, Geijo, Fernando, Collette, Daniela, Bruns, Christiane, Messerle, Katharina, Gockel, Ines, Noethen, Markus M., Lippert, Hans, Ridwelski, Karsten, Lanas, Angel, Keller, Gisela, Knapp, Michael, Leja, Marcis, Kupcinskas, Juozas, Garcia-Gonzalez, Maria A., Venerito, Marino ORCID: 0000-0001-8581-0974 and Schumacher, Johannes (2018). Evidence for PTGER4, PSCA, and MBOAT7 as risk genes for gastric cancer on the genome and transcriptome level. Cancer Med., 7 (10). S. 5057 - 5066. HOBOKEN: WILEY. ISSN 2045-7634

Ishorst, Nina, Francheschelli, Paola, Boehmer, Anne C., Khan, Mohammad Faisal J., Heilmann-Heimbach, Stefanie ORCID: 0000-0003-1057-465X, Fricker, Nadine, Little, Julian ORCID: 0000-0001-5026-5531, Steegers-Theunissen, Regine P. M., Peterlin, Borut, Nowak, Stefanie, Martini, Markus, Kruse, Teresa, Dunsche, Anton, Kreusch, Thomas, Goelz, Lina, Aldhorae, Khalid ORCID: 0000-0002-5920-8004, Halboub, Esam ORCID: 0000-0002-1894-470X, Reutter, Heiko, Mossey, Peter, Noethen, Markus M., Rubini, Michele ORCID: 0000-0003-1448-9516, Ludwig, Kerstin U., Knapp, Michael and Mangold, Elisabeth (2018). Nonsyndromic cleft palate: An association study at GWAS candidate loci in a multiethnic sample. Birth Defects Res., 110 (10). S. 871 - 883. HOBOKEN: WILEY. ISSN 2472-1727

Issa, Peter Charbel, Gliem, Martin, Yusuf, Imran H., Birtel, Johannes, Mueller, Philipp L., Mangold, Elisabeth, Downes, Susan M., MacLaren, Robert E., Betz, Christian and Bolz, Hanno J. (2019). A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G > A, a Silent Mutation Leading to In-Frame Exon Skipping. Invest. Ophthalmol. Vis. Sci., 60 (10). S. 3388 - 3398. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Issa, Peter Charbel ORCID: 0000-0002-0351-6673, Mueller, Philipp, Gliem, Martin, Mangold, Elisabeth, Bolz, Hanno Joern and Holz, Frank G. (2015). Monoallelic mutations in ABCA4 are not associated with abnormal lipofuscin accumulation. Invest. Ophthalmol. Vis. Sci., 56 (7). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Klamt, Johanna, Hofmann, Andrea, Boehmer, Anne C., Hoebel, Ann-Kathrin, Goelz, Lina, Becker, Jessica, Zink, Alexander M., Draaken, Markus, Hemprich, Alexander, Scheer, Martin, Schmidt, Guel, Martini, Markus ORCID: 0000-0001-5608-6980, Knapp, Michael, Mangold, Elisabeth, Degenhardt, Franziska and Ludwig, Kerstin U. (2016). Further Evidence for Deletions in 7p14.1 Contributing to Nonsyndromic Cleft Lip with or without Cleft Palate. Birth Defects Res. Part A-Clin. Mol. Teratol., 106 (9). S. 767 - 773. HOBOKEN: WILEY-BLACKWELL. ISSN 1542-0760

Ludwig, Kerstin U., Boehmer, Anne C., Bowes, John, Nikolic, Milos ORCID: 0000-0003-0029-7601, Ishorst, Nina, Wyatt, Niki, Hammond, Nigel L., Goelz, Lina, Thieme, Frederic, Barth, Sandra, Schuenke, Hannah, Klamt, Johanna, Spielmann, Malte ORCID: 0000-0002-0583-4683, Aldhorae, Khalid ORCID: 0000-0002-5920-8004, Rojas-Martinez, Augusto, Noethen, Markus M., Rada-Iglesias, Alvaro, Dixon, Michael J., Knapp, Michael and Mangold, Elisabeth (2017). Imputation of orofacial clefting data identifies novel risk loci and sheds light on the genetic background of cleft lip 6 cleft palate and cleft palate only. Hum. Mol. Genet., 26 (4). S. 829 - 843. OXFORD: OXFORD UNIV PRESS. ISSN 1460-2083

Mangold, Elisabeth, Boehmer, Anne C., Ishorst, Nina, Hoebel, Ann-Kathrin, Gueltepe, Pinar, Schuenke, Hannah, Klamt, Johanna, Hofmann, Andrea, Goelz, Lina, Raff, Ruth, Tessmann, Peter, Nowak, Stefanie, Reutter, Heiko, Hemprich, Alexander, Kreusch, Thomas, Kramer, Franz-Josef, Braumann, Bert, Reich, Rudolf, Schmidt, Guel, Jaeger, Andreas, Reiter, Rudolf, Brosch, Sibylle, Stavusis, Janis, Ishida, Miho, Seselgyte, Rimante, Moore, Gudrun E., Noethen, Markus M., Borck, Guntram, Aldhorae, Khalid A., Lace, Baiba ORCID: 0000-0001-5371-6756, Stanier, Philip ORCID: 0000-0001-9340-8117, Knapp, Michael and Ludwig, Kerstin U. (2016). Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft Palate. Am. J. Hum. Genet., 98 (4). S. 755 - 763. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Mueller, Philipp L., Gliem, Martin, Mangold, Elisabeth, Bolz, Hanno J., Finger, Robert P., McGuinness, Myra ORCID: 0000-0002-5422-040X, Betz, Christian, Jiang, Zhichun, Weber, Bernhard H. F., MacLaren, Robert E., Holz, Frank G., Radu, Roxana A. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673 (2015). Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study. Invest. Ophthalmol. Vis. Sci., 56 (13). S. 8179 - 8187. ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

Nasser, Entessar, Mangold, Elisabeth, Tradowsky, Daniela C., Fier, Heide, Becker, Jessica, Boehmer, Anne C., Herberz, Ruth, Fricker, Nadine, Barth, Sandra, Wahle, Philipp ORCID: 0000-0002-4728-806X, Nowak, Stefanie, Reutter, Heiko, Reich, Rudolf H., Lauster, Carola, Braumann, Bert, Kreusch, Thomas, Hemprich, Alexander, Poetzsch, Bernd, Hoffmann, Per ORCID: 0000-0002-6573-983X, Kramer, Franz-Josef, Knapp, Michael, Lange, Christoph, Noethen, Markus M. and Ludwig, Kerstin U. (2012). Resequencing of VAX1 in patients with nonsyndromic cleft lip with or without cleft palate. Birth Defects Res. Part A-Clin. Mol. Teratol., 94 (11). S. 925 - 934. HOBOKEN: WILEY. ISSN 1542-0760

Schroeder, Julia, Schueller, Vitalia, May, Andrea, Gerges, Christian, Anders, Mario, Becker, Jessica, Hess, Timo, Kreuser, Nicole, Thieme, Rene ORCID: 0000-0002-0537-3979, Ludwig, Kerstin U., Noder, Tania, Venerito, Marino, Veits, Lothar, Schmidt, Thomas ORCID: 0000-0002-7166-3675, Fuchs, Claudia, Izbicki, Jakob R., Hoelscher, Arnulf H., Dakkak, Dani, Jansen-Winkeln, Boris, Moulla, Yusef, Lyros, Orestis, Niebisch, Stefan, Mehdorn, Matthias, Lang, Hauke, Lorenz, Dietmar, Schumacher, Brigitte, Mayershofer, Rupert, Vashist, Yogesh, Ott, Katja, Vieth, Michael, Weismueller, Josef, Mangold, Elisabeth, Noethen, Markus M., Moebus, Susanne, Knapp, Michael, Neuhaus, Horst, Roesch, Thomas, Ell, Christian, Gockel, Ines, Schumacher, Johannes and Boehmer, Anne C. (2019). Identification of loci of functional relevance to Barrett's esophagus and esophageal adenocarcinoma: Cross-referencing of expression quantitative trait loci data from disease-relevant tissues with genetic association data. PLoS One, 14 (12). SAN FRANCISCO: PUBLIC LIBRARY SCIENCE. ISSN 1932-6203

Yusuf, Imran H., Gliem, Martin, Birtel, Johannes, Muller, Philipp L., Mangold, Elisabeth, Bolz, Hanno and Issa, Peter Charbel (2018). The retinal phenotype associated with the frequent, synonymous c.783G > A mutation in CDHR1. Invest. Ophthalmol. Vis. Sci., 59 (9). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783

This list was generated on Fri Oct 15 06:06:43 2021 CEST.