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Claus-Eric Ott
Claus-Eric Ott
Institute for Medical Genetics and Human Genetics
E-mailová adresa ověřena na: charite.de
Název
Citace
Citace
Rok
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
5492009
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
3542007
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
1982009
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, 1-16, 2014
1682014
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
1582013
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
1472008
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
1422008
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
1392011
Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants
DR Barnes, MA Rookus, L McGuffog, G Leslie, TM Mooij, J Dennis, ...
Genetics in Medicine 22 (10), 1653-1666, 2020
1052020
PEDIA: prioritization of exome data by image analysis
TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ...
Genetics in Medicine 21 (12), 2807-2814, 2019
892019
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, 1-12, 2011
842011
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
802010
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
732015
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
582009
Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness
VL Patel, EL Busch, TM Friebel, A Cronin, G Leslie, L McGuffog, J Adlard, ...
Cancer research 80 (3), 624-638, 2020
542020
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
542018
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), 17192, 2017
532017
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
462014
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
452013
Efficiency of computer-aided facial phenotyping (DeepGestalt) in individuals with and without a genetic syndrome: diagnostic accuracy study
JT Pantel, N Hajjir, M Danyel, J Elsner, AT Abad-Perez, P Hansen, ...
Journal of medical Internet research 22 (10), e19263, 2020
412020
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Články 1–20