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Osteogenesis imperfecta
JC Marini, WA Cabral
Genetics of bone biology and skeletal disease, 397-420, 2018
8262018
Exome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfecta
J Becker, O Semler, C Gilissen, Y Li, HJ Bolz, C Giunta, C Bergmann, ...
The American Journal of Human Genetics 88 (3), 362-371, 2011
4072011
A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus
O Semler, L Garbes, K Keupp, D Swan, K Zimmermann, J Becker, S Iden, ...
The American Journal of Human Genetics 91 (2), 349-357, 2012
3012012
Mutations in WNT1 cause different forms of bone fragility
K Keupp, F Beleggia, H Kayserili, AM Barnes, M Steiner, O Semler, ...
The American Journal of Human Genetics 92 (4), 565-574, 2013
2962013
Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish
PV Asharani, K Keupp, O Semler, W Wang, Y Li, H Thiele, G Yigit, E Pohl, ...
The American Journal of Human Genetics 90 (4), 661-674, 2012
2372012
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial
N Bishop, S Adami, SF Ahmed, J Antón, P Arundel, CP Burren, ...
The Lancet 382 (9902), 1424-1432, 2013
2002013
Measuring procedures to determine the Cobb angle in idiopathic scoliosis: a systematic review
S Langensiepen, O Semler, R Sobottke, O Fricke, J Franklin, E Schönau, ...
European Spine Journal 22, 2360-2371, 2013
1992013
Results of the SIOP 93-01/GPOH trial and study for the treatment of patients with unilateral nonmetastatic Wilms Tumor
H Reinhard, O Semler, D Bürger, U Bode, M Flentje, U Göbel, P Gutjahr, ...
Klinische Pädiatrie 216 (03), 132-140, 2004
1812004
Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta
L Garbes, K Kim, A Rieß, H Hoyer-Kuhn, F Beleggia, A Bevot, MJ Kim, ...
The American Journal of Human Genetics 96 (3), 432-439, 2015
1632015
Safety and efficacy of denosumab in children with osteogenesis imperfecta-a first prospective trial
H Hoyer-Kuhn, J Franklin, G Allo, M Kron, C Netzer, P Eysel, B Hero, ...
Journal of musculoskeletal & neuronal interactions 16 (1), 24, 2016
1582016
First use of the RANKL antibody denosumab in osteogenesis imperfecta type VI
O Semler, C Netzer, H Hoyer-Kuhn, J Becker, P Eysel, E Schoenau
J Musculoskelet Neuronal Interact 12 (3), 183-8, 2012
1562012
Two years’ experience with denosumab for children with osteogenesis imperfecta type VI
H Hoyer-Kuhn, C Netzer, F Koerber, E Schoenau, O Semler
Orphanet journal of rare diseases 9, 1-8, 2014
1392014
Preliminary results on the mobility after whole body vibration in immobilized children and adolescents
O Semler, O Fricke, K Vezyroglou, C Stark, E Schoenau
Journal of Musculoskeletal and Neuronal Interactions 7 (1), 77, 2007
1172007
Effect of a new physiotherapy concept on bone mineral density, muscle force and gross motor function in children with bilateral cerebral palsy
C Stark, P Nikopoulou-Smyrni, A Stabrey, O Semler, E Schoenau
International Society of Musculoskeletal and Neuronal Interactions, 2010
1162010
Results of a prospective pilot trial on mobility after whole body vibration in children and adolescents with osteogenesis imperfecta
O Semler, O Fricke, K Vezyroglou, C Stark, A Stabrey, E Schoenau
Clinical rehabilitation 22 (5), 387-394, 2008
1092008
Surgery of cavoatrial tumor thrombus in nephroblastoma: a report of the SIOP/GPOH study
P Szavay, T Luithle, O Semler, N Graf, J Fuchs
Pediatric blood & cancer 43 (1), 40-45, 2004
942004
A specialized rehabilitation approach improves mobility in children with osteogenesis imperfecta
H Hoyer-Kuhn, O Semler, C Stark, N Struebing, O Goebel, E Schoenau
J Musculoskelet Neuronal Interact 14 (4), 445-53, 2014
922014
Consensus statement on physical rehabilitation in children and adolescents with osteogenesis imperfecta
B Mueller, R Engelbert, F Baratta-Ziska, B Bartels, N Blanc, E Brizola, ...
Orphanet journal of rare diseases 13, 1-14, 2018
872018
Wormian bones in osteogenesis imperfecta: correlation to clinical findings and genotype
O Semler, MS Cheung, FH Glorieux, F Rauch
American journal of medical genetics Part A 152 (7), 1681-1687, 2010
812010
Whole body vibration: a new therapeutic approach to improve muscle function in cystic fibrosis?
E Rietschel, S van Koningsbruggen, O Fricke, O Semler, E Schoenau
International Journal of Rehabilitation Research 31 (3), 253-256, 2008
812008
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