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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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| Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia |
| Authors: Kurth, Ingo; Klopocki, Eva; Stricker, Sigmar; van Oosterwijk, Jolieke; Vanek, Sebastian; Altmann, Jens; Santos, Heliosa G.; van Harssel, Jeske J. T.; de Ravel, Thomy; Wilkie, Andrew O. M.; Gal, Andreas; Mundlos, Stefan | | Date of Publication (YYYY-MM-DD): 2009-08 | | Title of Journal: Nature Genetics | | Volume: 41 | | Issue / Number: 8 | | Start Page: 862 | | End Page: 863 | | Document Type: Article | | ID: 456436.0 |
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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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| 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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| Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption. |
| Authors: Meyer, Stefan; Fergusson, William D.; Whetton, Anthony D.; Moreira-Leite, Flavia; Pepper, Stuart D.; Miller, Crispin; Saunders, Emma K.; White, Daniel J.; Will, Andrew M.; Eden, Tim; Ikeda, Hideyuki; Ullmann, Reinhard; Tuerkmen, Seval; Gerlach, Antje; Klopocki, Eva; Tönnies, Holger | | Date of Publication (YYYY-MM-DD): 2007-04-01 | | Title of Journal: Genes, Chromosomes and Cancer | | Volume: 46 | | Issue / Number: 4 | | Start Page: 359 | | End Page: 372 | | Document Type: Article | | ID: 334295.0 |
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| Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius |
| Authors: Klopocki, Eva; Schulze, Harald; Strauß, Gabriele; Ott, Claus-Eric; Hall, Judith; Trotier, Fabienne; Fleischhauer, Silke; Greenhalgh, Lynn; Newbury-Ecob, Ruth A.; Neumann, Luitgard M.; Habenicht, Rolf; König, Rainer; Seemanova, Eva; Megarbane, André; Ropers, Hans-Hilger; Ullmann, Reinhard; Mundlos, Stefan | | Date of Publication (YYYY-MM-DD): 2007-02-01 | | Title of Journal: American Journal of Human Genetics : AJHG / American Society of Human Genetics | | Volume: 80 | | Issue / Number: 2 | | Start Page: 232 | | End Page: 240 | | Document Type: Article | | ID: 334122.0 |
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| Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene |
| Authors: Klopocki, Eva; Neumann, Luitgard M.; Tönnies, Holger; Ropers, Hans-Hilger; Mundlos, Stefan; Ullmann, Reinhard | | Date of Publication (YYYY-MM-DD): 2006-12-01 | | Title of Journal: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics. | | Volume: 14 | | Issue / Number: 121 | | Start Page: 1274 | | End Page: 1279 | | Document Type: Article | | ID: 307698.0 |
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| Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene |
| Authors: Klopocki, Eva; Neumann, Luitgard M.; Tönnies, Holger; Ropers, Hans-Hilger; Mundlos, Stefan; Ullmann, Reinhard | | Date of Publication (YYYY-MM-DD): 2006-12-01 | | Title of Journal: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics. | | Volume: 14 | | Issue / Number: 121 | | Start Page: 1274 | | End Page: 1279 | | Document Type: Article | | ID: 307703.0 |
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