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Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. |
Authors: Bartsch, Oliver; Gebauer, Konstanze; Lechno, Stanislav; van Esch, Hilde; Froyen, Guy; Bonin, Michael; Jörg Seidel, Jörg Seidel; Thamm-Mücke, Barbara; Horn, Denise; Klopock, Eva; Hertzberg, Christoph; Zechner, Ulrich; Haaf, Thomas | Date of Publication (YYYY-MM-DD): 2010-01-15 | Title of Journal: American Journal of Medical Genetics Part A | Volume: 152A | Issue / Number: 2 | Start Page: 305 | End Page: 312, | Document Type: Article | ID: 536214.0 |
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A restricted spectrum of NRAS mutations causes Noonan syndrome |
Authors: Cirstea, Ion C.; Kutsche, Kerstin; Dvorsky, Radovan; Gremer, Lothar; Carta, Claudio; Horn, Denise; Roberts, Amy E.; Lepri, Francesca; Merbitz-Zahradnik, Torsten; König, Rainer; Kratz, Christian P.; Pantaleoni, Francesca; Dentici, Maria L.; Joshi, Victoria A.; Kucherlapati, Raju S.; Mazzanti, Laura; Mundlos, Stefan; Patton, Michael A.; Silengo, Margherita Cirillo; Rossi, Cesare; Zampino, Giuseppe; Digilio, Cristina; Stuppia, Liborio; Seemanova, Eva; Pennacchio, Len A.; Gelb, Bruce D.; Dallapiccola, Bruno; Wittinghofer, Alfred; Ahmadian, Mohammad R.; Tartaglia, Marco; Zenker, Martin | Date of Publication (YYYY-MM-DD): 2010-01 | Title of Journal: Nature Genetics | Volume: 42 | Issue / Number: 1 | Start Page: 27 | End Page: 29 | Sequence Number of Article: 1 | Document Type: Article | ID: 442399.0 |
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Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum |
Authors: Najm, Juliane; Horn, Denise; Wimplinger, Isabella; Golden, Jeffrey A.; Chizhikov, Victor V.; Sudi, Jyotsna; Christian, Susan L.; Ullmann, Reinhard; Kuechler, Alma; Haas, Carola A.; Flubacher, Armin; Charnas, Lawrence R.; Uyanik, Gökhan; Frank, Ulrich; Klopocki, Eva; Dobyns, William B.; Kutsche, Kerstin | Date of Publication (YYYY-MM-DD): 2009-09 | Title of Journal: Nature Genetics | Volume: 40 | Issue / Number: 9 | Start Page: 1065 | End Page: 1067 | Document Type: Article | ID: 473327.0 |
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Expanded clinical spectrum in hepatocyte nuclear factor 1B-maturity-onset diabetes of the young |
Authors: Raile, Klemens; Klopocki, Eva; Holder, Martin; Wessel, Theda; Galler, Angela; Deiss, Dorothee; Müller, Dominik; Riebel, Thomas; Horn, Denise; Maringa, Monika; Weber, Jürgen; Ullmann, Reinhard; Grüters, Annette | Date of Publication (YYYY-MM-DD): 2009-07 | Title of Journal: Journal of Clinical Endocrinology & Metabolism | Volume: 94 | Issue / Number: 7 | Start Page: 2658 | End Page: 2664 | Document Type: Article | ID: 473436.0 |
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Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1 |
Authors: Seifert, Wenke; Holder-Espinasse, Muriel; Kühnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Kuss, Andreas Walter; Kress, Wolfram; Laureys, Geneviève; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M.S.; Dollfus, Hélène; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise | Date of Publication (YYYY-MM-DD): 2008-11-12 | Title of Journal: Human Mutation | Volume: 30 | Issue / Number: 2 | Start Page: E404 | End Page: E420 | Document Type: Article | ID: 411209.1 |
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A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures |
Authors: Busche, Andreas; Klopocki, Eva; Ullmann, Reinhard; Mundlos, Stefan; Horn, Denise | Date of Publication (YYYY-MM-DD): 2008-07-12 | Title of Journal: European Journal of Medical Genetics | Volume: 51 | Issue / Number: 6 | Start Page: 615 | End Page: 621 | Document Type: Article | ID: 407084.0 |
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