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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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