Claus-Eric Ott
Claus-Eric Ott
Institute for Medical Genetics and Human Genetics
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Citata da
Citata da
Clinical diagnostics in human genetics with semantic similarity searches in ontologies
S Köhler, MH Schulz, P Krawitz, S Bauer, S Dölken, CE Ott, C Mundlos, ...
The American Journal of Human Genetics 85 (4), 457-464, 2009
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia–absent radius syndrome
E Klopocki, H Schulze, G Strauß, CE Ott, J Hall, F Trotier, S Fleischhauer, ...
The American Journal of Human Genetics 80 (2), 232-240, 2007
Duplications involving a conserved regulatory element downstream of BMP2 are associated with brachydactyly type A2
K Dathe, KW Kjaer, A Brehm, P Meinecke, P Nürnberg, JC Neto, ...
The American Journal of Human Genetics 84 (4), 483-492, 2009
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome
E Klopocki, CE Ott, N Benatar, R Ullmann, S Mundlos, K Lehmann
Journal of medical genetics 45 (6), 370-375, 2008
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
A Michalk, S Stricker, J Becker, R Rupps, T Pantzar, J Miertus, G Botta, ...
The American Journal of Human Genetics 82 (2), 464-476, 2008
Deletions of chromosomal regulatory boundaries are associated with congenital disease
J Ibn-Salem, S Köhler, MI Love, HR Chung, N Huang, ME Hurles, ...
Genome biology 15 (9), 1-16, 2014
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3′ UTR and coding-sequence binding sites
CE Ott, J Grünhagen, M Jäger, D Horbelt, S Schwill, K Kallenbach, G Guo, ...
PloS one 6 (1), e16250, 2011
miR-181a promotes osteoblastic differentiation through repression of TGF-β signaling molecules
R Bhushan, J Grünhagen, J Becker, PN Robinson, CE Ott, P Knaus
The international journal of biochemistry & cell biology 45 (3), 696-705, 2013
Composite transcriptome assembly of RNA-seq data in a sheep model for delayed bone healing
M Jäger, CE Ott, J Grünhagen, J Hecht, H Schell, S Mundlos, GN Duda, ...
BMC genomics 12 (1), 158, 2011
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
CE Ott, G Leschik, F Trotier, L Brueton, HG Brunner, W Brussel, ...
Human mutation 31 (8), E1587-E1593, 2010
MiR‐497∼ 195 cluster microRNAs regulate osteoblast differentiation by targeting BMP signaling
J Grünhagen, R Bhushan, E Degenkolbe, M Jäger, P Knaus, S Mundlos, ...
Journal of Bone and Mineral Research 30 (5), 796-808, 2015
Biaxial cell stimulation: A mechanical validation
FH Bieler, CE Ott, MS Thompson, R Seidel, S Ahrens, DR Epari, ...
Journal of biomechanics 42 (11), 1692-1696, 2009
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1
B Fischer, B Callewaert, P Schröter, PJ Coucke, C Schlack, CE Ott, ...
Molecular genetics and metabolism 112 (4), 310-316, 2014
Promiscuous and depolarization‐induced immediate‐early response genes are induced by mechanical strain of osteoblasts
CE Ott, S Bauer, T Manke, S Ahrens, C Rödelsperger, J Grünhagen, ...
Journal of Bone and Mineral Research 24 (7), 1247-1262, 2009
Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice
G Guo, B Muñoz-García, CE Ott, J Grünhagen, SA Mousa, A Pletschacher, ...
Human Molecular Genetics 22 (3), 433-443, 2013
Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia
CE Ott, H Hein, S Lohan, J Hoogeboom, N Foulds, J Grünhagen, ...
Journal of medical genetics 49 (7), 437-441, 2012
The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta
S Schwill, P Seppelt, J Grünhagen, CE Ott, M Jugold, A Ruhparwar, ...
Journal of vascular surgery 57 (6), 1628-1636. e3, 2013
BMPs as new insulin sensitizers: enhanced glucose uptake in mature 3T3-L1 adipocytes via PPARγ and GLUT4 upregulation
I Schreiber, G Dörpholz, CE Ott, B Kragesteen, N Schanze, CT Lee, ...
Scientific reports 7 (1), 1-13, 2017
Impaired proteoglycan glycosylation, elevated TGF-β signaling, and abnormal osteoblast differentiation as the basis for bone fragility in a mouse model for gerodermia …
WL Chan, M Steiner, T Witkos, J Egerer, B Busse, S Mizumoto, JM Pestka, ...
PLoS genetics 14 (3), e1007242, 2018
Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation
N Brunetti‐Pierri, D del Gaudio, H Peters, H Justino, CE Ott, S Mundlos, ...
American Journal of Medical Genetics Part A 146 (21), 2804-2809, 2008
Il sistema al momento non può eseguire l'operazione. Riprova più tardi.
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