Publications of Hans-Hilger Ropers

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)

Tzschach, A.; Bozorgmehr, B.; Hadavi, V.; Kahrizi, K.; Garshasbi, M.; Motazacker, M. M.; Ropers, H.-H.; Kuss, A.; Najmabad, H.: Alopecia-mental retardation syndrome: clinical and molecular characterization of four patients. British Journal of Dermatology 159 (3), pp. 748 - 751 (2008)

Garshasbi, M.; Hadavi, V.; Habibi, H.; Kahrizi, K.; Kariminejad, R.; Behjati, F.; Tzschach, A.; Najmabadi, H.; Ropers, H.-H.; Kuss, A. W.: A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. The American Journal of Human Genetics 82 (5), pp. 1158 - 1164 (2008)

Mller, R. S.; Kübart, S.; Hoeltzenbein, M.; Heye, B.; Vogel, I.; Hansen, C. P.; Menzel, C.; Ullmann, R.; Tommerup, N.; Ropers, H.-H. et al.; Tümer, Z.; Kalscheuer, V. M.: Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly. The American Journal of Human Genetics 82 (5), pp. 1165 - 1170 (2008)

Frints, S. G. M.; Lenzner, S.; Bauters, M.; Jensen, L. R.; Van Esch, H.; des Portes, V.; Moog, U.; Macville, M. V. E.; van Roozendaal, K.; Schrander-Stumpel, C. T. R. M. et al.; Tzschach, A.; Marynen, P.; Fryns, J.-P.; Hame, B.; van Bokhoven, H.; Chelly, J.; Beldjord, C.; Turner, G.; Gecz, J.; Moraine, C.; Raynaud, M.; Ropers, H. H.; Froyen, G.; Kuss, A. W.: MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. European Journal of Human Genetics 16 (9), pp. 1029 - 1037 (2008)

Chen, W.; Kalscheuer, V.; Tzschach, A.; Menzel, C.; Ullmann, R.; Schulz, M. H.; Erdogan, F.; Na, L.; Kijas, Z.; Arkesteijn, G. et al.; Pajares, I. L.; Goetz-Sothmann, M.; Heinrich, U.; Rost, I.; Dufke, A.; Grasshoff, U.; Glaeser, B.; Vingron, M.; Ropers, H. H.: Mapping translocation breakpoints by next-generation sequencing. Genome Research 18 (7), pp. 1143 - 1149 (2008)

Kirov, G.; Gumus, D.; Chen, W.; Norton, N.; Georgieva, L.; Sari, M.; O’Donovan, M. C.; Erdogan, F.; Owen, M. J.; Ropers, H.-H. et al.; Ullmann, R.: Comparative genome hybridization suggests a role for NRXN1 and APBA2 in schizophrenia. Human Molecular Genetics 17 (3), pp. 458 - 465 (2008)

Tzschach, A.; Kelbova, C.; Weidensee, S.; Peters, H.; Ropers, H.-H.; Ullmann, R.; Erdogan, F.; Jurkatis, J.; Menzel, C.; Kalscheuer, V. M. et al.; Demuth, S.: Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23). Ophthalmic Genetics 29 (1), pp. 37 - 40 (2008)

Scheffer, I. E.; Turner, S. J.; Dibbens, L. M.; Bayly, M. A.; Friend, K.; Hodgson, B.; Burrows, L.; Shaw, M.; Chen, W.; Ullmann, R. et al.; Ropers, H.-H.; Szepetowski, P.; Haan, E.; Mazarib, A.; Afawi, Z.; Neufeld, M. Y.; Andrews, P. I.; Wallace, G.; Kivity, S.; Lev, D.; Lerman-Sagie, T.; Derry, C. P.; Korczyn, A. D.; Gecz, J.; Mulley, J. C.; Berkovic, S. F.: Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain 131 (4), pp. 918 - 927 (2008)

Froyen, G.; Corbett, M.; Vandewalle, J.; Jarvela, I.; Lawrence, O.; Meldrum, C.; Bauters, M.; Govaerts, K.; Vandeleur, L.; Van Esch, H. et al.; Chelly, J.; Sanlaville, D.; van Bokhoven, H.; Ropers, H.-H.; Laumonnier, F.; Ranieri, E.; Schwartz, C. E.; Abidi, F.; Tarpey, P. S.; Futreal, P. A.; Whibley, A.; Raymond, F. L.; Stratton, M. R.; Fryns, J.-P.; Scott, R.; Peippo, M.; Sipponen, M.; Partington, M.; Mowat, D.; Field, M.; Hackett, A.; Marynen, P.; Turner, G.; Gécz, J.: Submicroscopic duplications of th hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. The American Journal of Human Genetics, 82 (2), pp. 432 - 443 (2008)

Walczak-Sztulpa, J.; Wisniewska, M.; Latos-Bielenska, A.; Linné, M.; Kelbova, C.; Belitz, B.; Pfeiffer, L.; Kalscheuer, V. M.; Erdogan, F.; Kuss, A. W. et al.; Ropers, H.-H.; Ullmann, R.; Tzschach, A.: Chromosome deletions in 13q33-34: Report of four patients and review of the literature. American Journal of Medical Genetics Part A 146 (3), pp. 337 - 342 (2008)

Gilling, M.; Lauritsen, M. B.; Møller, M.; Henriksen, K. F.; Vicente, A.; Oliveira, G.; Cintin, C.; Eiberg, H.; Andersen, P. S.; Mors, O. et al.; Rosenberg, T.; Brøndum-Nielsen, K.; Cotterill, R. M. J.; Lundsteen, C.; Ropers, H.-H.; Ullmann, R.; Bache, I.; Tümer, Z.; Tommerup, N.: A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. European Journal of Human Genetics 16 (3), pp. 312 - 319 (2008)

Moheb, L. A.; Tzschach, A.; Garshasbi, M.; Kahrizi, K.; Darvish, H.; Heshmati, Y.; Kordi, A.; Najmabadi, H.; Ropers, H.-H.; Kuss, A. W.: Identification of nonsense mutation in the very low density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. European Journal of Human Genetics 16, pp. 270 - 273 (2008)

Tzschach, A.; Chen, W.; Erdogan, F.; Hoeller, A.; Ropers, H.-H.; Castellan, C.; Ullmann, R.; Schinzel, A.: Characterization of Interstitial Xp duplications in two families by tiling path array CGH. American Journal of Medical Genetics. American Journal of Medical Genetics Part A 146A (2), pp. 197 - 203 (2008)

Møller, R. S.; Hansen, C. P.; Jackson, G. D.; Ullmann, R.; Ropers, H.-H.; Tommerup, N.; Tümer, Z.: Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. Clinical Genetics 72 (6), pp. 593 - 598 (2007)

Mefford, H. C.; Clauin, S.; Sharp, A. J.; Moller, R. S.; Ullmann, R.; Kapur, R.; Pinkel, D.; Cooper, G. M.; Ventura, M.; Ropers, H.-H. et al.; Tommerup, N.; Eichler, E. E.; Bellanne-Chantelot, C.: Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes and epilepsy. American Journal of Human Genetics: AJHG 81 (5), pp. 1057 - 1069 (2007)

Motazacker, M. M.; Rost, B. R.; Hucho, T.; Garshasb, M.; Kahriz, K.; Ullmann, R.; Abedini, S. S.; Nieh, S. E.; Amini, S. H.; Goswami, C. et al.; Tzschach, A.; Jensen, L. R.; Schmitz, D.; Ropers, H.-H.; Najmabadi, H.; Kuss, A. W.: A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. The American Journal of Human Genetics: AJHG 81 (4), pp. 792 - 798 (2007)

Kousoulidou, L.; Parkel, S.; Zilina, O.; Palta, P.; Puusepp, H.; Remm, M.; Turner, G.; Boyle, J.; van Bokhoven, H.; de Brouwer, A. et al.; Van Esch, H.; Froyen, G.; Ropers, H.-H.; Chelly, J.; Moraine, C.; Gecz, J.; Kurg, A.; Patsalis, P. C.: Screening of 20 patients with X-linked mental retardation using chromosome X-specific array-MAPH. European Journal of Medical Genetics 50 (6), pp. 399 - 410 (2007)

Ropers, H.-H.: New perspectives for the elucidation of genetic disorders. American Journal of Human Genetics: AJHG 81 (2), pp. 199 - 207 (2007)

Engenheiro, E.; Saraiva,, J.; Carreira, I.; Ramos, L.; Ropers, H.-H.; Silva, E.; Tommerup, N.; Tümer, Z.: Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome. Clinical Genetics: an International Journal of Genetics in Medicine 72 (5), pp. 464 - 470 (2007)