Journal Article (420)

321.
Journal Article
Ratzka, A.; Kalus, I.; Moser, M.; Dierks, T.; Mundlos, S.; Vortkamp, A.: Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development. Developmental Dynamics 237 (2), pp. 339 - 353 (2008)
322.
Journal Article
Plöger, F.; Seemann, P.; Schmidt-von Kegler, M.; Lehmann, K.; Seidel, J.; Kjaer, K. W.; Pohl, J.; Mundlos, S.: Brachydactyly type A2 associated with a defect in proGDF5 processing. Human Molecular Genetics 17 (9), pp. 122 - 133 (2008)
323.
Journal Article
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)
324.
Journal Article
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)
325.
Journal Article
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)
326.
Journal Article
Kornak, U.; Reynders, E.; Dimopoulou, A.; van Reeuwijk, J.; Fischer, B.; Rajab, A.; Budde, B.; Nürnberg, P.; Foulquier, F.; Lefeber, D. et al.; Urban, Z.; Gruenewald, S.; Annaert, W.; Brunner, H. G.; van Bokhoven, H.; Wevers, R.; Morava, E.; Matthijs, G.; Van Maldergem, L.; Mundlos, S.: Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nature Genetics 40 (1), pp. 32 - 34 (2008)
327.
Journal Article
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)
328.
Journal Article
Schulz, M. H.; Bauer, S.; Robinson, P. N.: The generalised k-Truncated Suffix Tree for time- and space-efficient searches in multiple DNA or protein sequences. International Journal of Bioinformatics Research and Applications: Ijbra 4 (1), pp. 81 - 95 (2008)
329.
Journal Article
Abo-Dalo, B.; Kim, H.-G.; Roes, M.; Stefanova, M.; Higgins, A.; Shen, Y.; Mundlos, S.; Quade, B. J.; Gusella, J. F.; Kutsche, K.: Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. American Journal of Medical Genetics / Part A 143 (22), pp. 2668 - 2674 (2007)
330.
Journal Article
Seitz, V.; Stiege, A. C.; Mundlos, S.; Lenze, D.; Lammert, H.; Clermont, A.; Hirsch, B.; Von Der Wall, E.; Müller, H.; Kirsch, A. et al.; Diaz-Espada, F.; Uharek, L.; Anagnostopoulos, I.; Stein, H.; Hummel, M.: Immunoglobulin receptor evolution in follicular lymphoma and a review of literature. Leukemia & Lymphoma 48 (10), pp. 2063 - 2067 (2007)
331.
Journal Article
Uhrig, S.; Schlembach, D.; Waldispuehl-Geigl, J.; Schaffer, W.; Geigl, J.; Klopcki, E.; Mundlos, S.; Speicher, M. R.: Impact of array comparative genomic hybridization-derived information on genetic counseling demonstrated by prenatal diagnosis of the TAR (thrombocytopenia-absent-radius) syndrome-associated microdeletion 1q21.1. American Journal of Human Genetics: AJHG 81 (4), pp. 866 - 868 (2007)
332.
Journal Article
Grossmann, S.; Bauer, S.; Robinson, P. N.; Vingron, M.: Improved detection of overrepresentation of Gene-Ontology annotations with parent child analysis. Bioinformatics 23 (22), pp. 3024 - 3031 (2007)
333.
Journal Article
Lehmann, K.; Seemann, P.; Silan, F.; Goecke, T. O.; Irgang, M.; Kjaer, K. W.; Kjaergaard, S.; Mahoney, M. J.; Morlot, S.; Reissner, C. et al.; Kerr, B.; Wilkie, A. O. M.; Mundlos, S.: A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. The American Journal of Human Genetics: AJHG 81 (12), pp. 388 - 396 (2007)
334.
Journal Article
Reijntjes, S.; Stricker, S.; Mankoo, B. S.: A comparative analysis of Meox1 and Meox2 in the developing somites and limbs of the chick embryo. International Journal of Developmental Biology (Ijdb) 51 (8), pp. 753 - 759 (2007)
335.
Journal Article
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)
336.
Journal Article
Trepczi, B.; Lienau, J.; Schell, H.; Epari, D. R.; Thompson, M. S.; Hoffmann, J.-E.; Kadow-Romacker, A.; Mundlos, S.; Duda, G. N.: Endochondral ossification in vitro is influenced by mechanical bending. Bone 40 (3), pp. 597 - 603 (2007)
337.
Journal Article
Kolanczyk, M.; Kossler, N.; Kühnisch, J.; Lavitas, L.; Stricker, S.; Wilkening, U.; Manjubala, I.; Fratzl, P.; Spörle, R.; Herrmann, B. G. et al.; Parada, L. F.; Kornak, U.; Mundlos, S.: Multiple roles for neurofibromin in skeletal development and growth. Human Molecular Genetics 16 (8), pp. 232 - 240 (2007)
338.
Journal Article
Castori, M.; Brancati, F.; Mingarelli, R.; Mundlos, S.; Dallapiccola, B.: A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. American Journal of Medical Genetics/ Part A 143 (2), pp. 195 - 199 (2007)
339.
Journal Article
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)
340.
Journal Article
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)
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