Publications of E. Klopocki

Kantaputra, P. N.; Klopocki, E.; Hennig, B. P.; Praphanphoj, V.; Le Caignec, C.; Isidor, B.; Kwee, M. L.; Shears, D. J.; Mundlos, S.: Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q. European Journal of Human Genetics 18 (12), pp. 1310 - 1314 (2010)

Ott, C. E.; Leschik, G.; Trotier, F.; Brueton, L.; Brunner, H. G.; Brussel, W.; Guillen-Navarro, E.; Haase, C.; Kohlhase, J.; Kotzot, D. et al.; Lane, A.; Lee-Kirsch, M. A.; Morlot, S.; Simon, M. E.; Steichen-Gersdorf, E.; Tegay, D. H.; Peters, H.; Mundlos, S.; Klopocki, E.: Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. Human Mutation 31 (8), pp. E1587 - 93 (2010)

Kramer, M.; Backhaus, O.; Rosenstiel, P.; Horn, D.; Klopocki, E.; Birkenmeier, G.; Schreiber, S.; Platzer, M.; Hampe, J.; Huse, K.: Analysis of relative gene dosage and expression differences of the paralogs RABL2A and RABL2B by Pyrosequencing. Gene 455 (1-2), pp. 1 - 7 (2010)

Klopocki, E.; Hennig, B. P.; Dathe, K.; Koll, R.; de Ravel, T.; Baten, E.; Blom, E.; Gillerot, Y.; Weigel, J. F.; Krüger, G. et al.; Hiort, O.; Seemann, P.; Mundlos, S.: Deletion and point mutations of PTHLH cause brachydactyly type E. The American Journal of Human Genetics 86 (3), pp. 434 - 439 (2010)

Najm, J.; Horn, D.; Wimplinger, I.; Golden, J. A.; Chizhikov, V. V.; Sudi, J.; Christian, S. L.; Ullmann, R.; Kuechler, A.; Haas, C. A. et al.; Flubacher, A.; Charnas, L. R.; Uyanik, G.; Frank, U.; Klopocki, E.; Dobyns, W. B.; Kutsche, K.: Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics 40 (9), pp. 1065 - 1067 (2009)

Kurth, I.; Klopocki, E.; Stricker, S.; van Oosterwijk, J.; Vanek, S.; Altmann, J.; Santos, H. G.; van Harssel, J. J. T.; de Ravel, T.; Wilkie, A. O. M. et al.; Gal, A.; Mundlos, S.: Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia. Nature Genetics 41 (8), pp. 862 - 863 (2009)

Raile, K.; Klopocki, E.; Holder, M.; Wessel, T.; Galler, A.; Deiss, D.; Müller, D.; Riebel, T.; Horn, D.; Maringa, M. et al.; Weber, J.; Ullmann, R.; Grüters, A.: Expanded clinical spectrum in hepatocyte nuclear factor 1B-maturity-onset diabetes of the young. Journal of Clinical Endocrinology & Metabolism 94 (7), pp. 2658 - 2664 (2009)

Klopocki, E.; Graul-Neumann, L. M.; Grieben, U.; Tönnies, H.; Ropers, H.-H.; Horn, D.; Mundlos, S.; Ullmann, R.: A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics 167 (8), pp. 903 - 908 (2008)

Busche, A.; Klopocki, E.; Ullmann, R.; Mundlos, S.; Horn, D.: 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. European Journal of Medical Genetics 51 (6), pp. 615 - 621 (2008)

Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), pp. 370 - 375 (2008)

Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), pp. 370 - 375 (2008)

Klopocki, E.; Ott, C.-E.; Benatar, N.; Ullmann, R.; Mundlos, S.; Lehmann, K.: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 45 (6), pp. 370 - 375 (2008)

Raile, K.; Klopocki, E.; Wessel, T.; Deiss, D.; Horn, D.; Müller, D.; Ullmann, R.; Grüters, A.: HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects. Diabetes Care 31, p. e83 - e83 (2008)

Meyer, S.; Fergusson, W. D.; Whetton, A. D.; Moreira-Leite, F.; Pepper, S. D.; Miller, C.; Saunders, E. K.; White, D. J.; Will, A. M.; Eden, T. et al.; Ikeda, H.; Ullmann, R.; Tuerkmen, S.; Gerlach, A.; Klopocki, E.; Tönnies, H.: Amplification and translocation of 3q26 with overexpression of EVI1 in Fanconi anemia-derived childhood acute myeloid leukemia with biallelic FANCD1/BRCA2 disruption. Genes, Chromosomes and Cancer 46 (4), pp. 359 - 372 (2007)

Klopocki, E.; Schulze, H.; Strauß, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M. et al.; Habenicht, R.; König, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Mundlos, S.: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics 80 (2), pp. 232 - 240 (2007)

Klopocki, E.; Schulze, H.; Strauß, G.; Ott, C.-E.; Hall, J.; Trotier, F.; Fleischhauer, S.; Greenhalgh, L.; Newbury-Ecob, R. A.; Neumann, L. M. et al.; Habenicht, R.; König, R.; Seemanova, E.; Megarbane, A.; Ropers, H.-H.; Ullmann, R.; Mundlos, S.: Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius. American Journal of Human Genetics: AJHG / American Society of Human Genetics 80 (2), pp. 232 - 240 (2007)

Klopocki, E.; Neumann, L. M.; Tönnies, H.; Ropers, H.-H.; Mundlos, S.; Ullmann, R.: Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics. 14 (121), pp. 1274 - 1279 (2006)

Klopocki, E.; Neumann, L. M.; Tönnies, H.; Ropers, H.-H.; Mundlos, S.; Ullmann, R.: Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. European Journal of Human Genetics: the Official Journal of the European Society of Human Genetics. 14 (121), pp. 1274 - 1279 (2006)

Müller, D.; Klopocki, E.; Neumann, L. E.; Mundlos, S.; Taupitz, M.; Schulze, I.; Ropers, H.-H.; Querfeld, U.; Ullmann, R.: A complex phenotype with cystic renal disease. Kidney International: Official Journal of the International Society of Nephrology 70 (9), pp. 1656 - 1660 (2006)

Müller, D.; Klopocki, E.; Neumann, L. E.; Mundlos, S.; Taupitz, M.; Schulze, I.; Ropers, H.-H.; Querfeld, U.; Ullmann, R.: A complex phenotype with cystic renal disease. Kidney International: Official Journal of the International Society of Nephrology 70 (9), pp. 1656 - 1660 (2006)