Universität zu Köln

Garbes, Lutz, Kim, Kyungho, Riess, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver ORCID: 0000-0003-0029-7556, Bohlander, Stefan K., Kim, Jinoh ORCID: 0000-0003-2841-147X and Netzer, Christian (2015). Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta. Am. J. Hum. Genet., 96 (3). S. 432 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Garbes, Lutz, Kim, Kyungho, Riess, Angelika, Hoyer-Kuhn, Heike, Beleggia, Filippo ORCID: 0000-0003-0234-7094, Bevot, Andrea, Kim, Mi Jeong, Huh, Yang Hoon, Kweon, Hee-Seok, Savarirayan, Ravi, Amor, David, Kakadia, Purvi M., Lindig, Tobias, Kagan, Karl Oliver, Becker, Jutta, Boyadjiev, Simeon A., Wollnik, Bernd, Semler, Oliver ORCID: 0000-0003-0029-7556, Bohlander, Stefan K., Kim, Jinoh ORCID: 0000-0003-2841-147X and Netzer, Christian (2015). Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta. Am. J. Hum. Genet., 96 (3). S. 432 - 440. CAMBRIDGE: CELL PRESS. ISSN 1537-6605

Holler, Finn, Hannes, Tobias ORCID: 0000-0002-8550-2282, Germund, Ingo, Emmel, Mathias, Hoyer-Kuhn, Heike, Khalil, Markus, Sreeram, Narayanswami and ten Cate, Floris E. A. Udink (2016). Low serum 25-hydroxyvitamin D levels and secondary hyperparathyroidism in Fontan patients. Cardiol. Young, 26 (5). S. 876 - 885. CAMBRIDGE: CAMBRIDGE UNIV PRESS. ISSN 1467-1107

Hoyer-Kuhn, Heike, Franklin, Jeremy ORCID: 0000-0003-1536-0925, Jones, Christine, Blum, Werner F. and Schoenau, Eckhard (2018). Growth response to growth hormone treatment in patients with SHOX deficiency can be predicted by the Cologne prediction model. J. Pediatr. Endocrinol. Metab., 31 (1). S. 25 - 32. BERLIN: WALTER DE GRUYTER GMBH. ISSN 2191-0251

Hoyer-Kuhn, Heike, Hoebing, Laura, Cassens, Julia, Schoenau, Eckhard and Semler, Oliver (2016). Children with severe Osteogenesis imperfecta and short stature present on average with normal IGF-I and IGFBP-3 levels. J. Pediatr. Endocrinol. Metab., 29 (7). S. 813 - 819. BERLIN: WALTER DE GRUYTER GMBH. ISSN 2191-0251

Hoyer-Kuhn, Heike, Huebner, Angela, Richter-Unruh, Anette, Bettendorf, Markus, Rohrer, Tilman, Kapelari, Klaus, Riedl, Stefan, Mohnike, Klaus, Doerr, Helmuth-Guenther, Roehl, Friedrich-Wilhelm, Fink, Katharina, Holl, Reinhard W. and Woelfle, Joachim (2021). Hydrocortisone dosing in children with classic congenital adrenal hyperplasia: results of the German/Austrian registry. Endocr. Connect., 10 (5). S. 561 - 570. BRISTOL: BIOSCIENTIFICA LTD. ISSN 2049-3614

Hoyer-Kuhn, Heike, Huebner, Angela, Richter-Unruh, Annette, Oeverink, Rudolf, Bettendorf, Markus, Rohrer, Tilman, Kapelari, Klaus, Roehl, Friedrich-Wilhelm, Holl, Reinhard and Woelfle, Joachim (2018). Hydrocortisone (HC) Dose in Children with Congenital Adrenal Hyperplasia (CAH). Horm. Res. Paediatr., 90. S. 138 - 140. BASEL: KARGER. ISSN 1663-2826

Hoyer-Kuhn, Heike, Knoop, Kai, Semler, Oliver ORCID: 0000-0003-0029-7556, Kuhr, Kathrin, Hellmich, Martin, Schoenau, Eckhard and Koerber, Friederike (2016). Comparison of DXA Scans and Conventional X-rays for Spine Morphometry and Bone Age Determination in Children. J. Clin. Densitom., 19 (2). S. 208 - 216. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1559-0747

Hoyer-Kuhn, Heike, Kohbrok, Sina, Volland, Ruth, Franklin, Jeremy ORCID: 0000-0003-1536-0925, Hero, Barbara, Beck, Bodo B. and Hoppe, Bernd (2014). Vitamin B6 in Primary Hyperoxaluria I: First Prospective Trial after 40 Years of Practice. Clin. J. Am. Soc. Nephrol., 9 (3). S. 468 - 478. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1555-905X

Hoyer-Kuhn, Heike, Netzer, Christian, Koerber, Friederike, Schoenau, Eckhard and Semler, Oliver ORCID: 0000-0003-0029-7556 (2014). Two years' experience with denosumab for children with Osteogenesis imperfecta type VI. Orphanet J. Rare Dis., 9. LONDON: BMC. ISSN 1750-1172

Hoyer-Kuhn, Heike, Netzer, Christian and Semler, Oliver ORCID: 0000-0003-0029-7556 (2015). Osteogenesis imperfecta: pathophysiology and treatment. Wien. Med. Wochenschr., 165 (13-14). S. 278 - 285. WIEN: SPRINGER WIEN. ISSN 1563-258X

Hoyer-Kuhn, Heike, Rehberg, Mirko, Netzer, Christian, Schoenau, Eckhard and Semler, Oliver ORCID: 0000-0003-0029-7556 (2019). Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort. Orphanet J. Rare Dis., 14 (1). LONDON: BMC. ISSN 1750-1172

Hoyer-Kuhn, Heike, Schoenau, Eckhard and Semler, Oliver (2017). Letter to the Editor: The Effect of Whole Body Vibration Training on Bone andMuscle Function in Children With Osteogenesis Imperfecta. J. Clin. Endocrinol. Metab., 102 (11). S. 4260 - 4262. CARY: OXFORD UNIV PRESS INC. ISSN 1945-7197

Hoyer-Kuhn, Heike, Semler, Oliver ORCID: 0000-0003-0029-7556, Garbes, Lutz, Zimmermann, Katharina, Becker, Jutta, Wollnik, Bernd, Schoenau, Eckhard and Netzer, Christian (2014). A Nonclassical IFITM5 Mutation Located in the Coding Region Causes Severe Osteogenesis Imperfecta With Prenatal Onset. J. Bone Miner. Res., 29 (6). S. 1387 - 1392. HOBOKEN: WILEY. ISSN 1523-4681

Hoyer-Kuhn, Heike, Semler, Oliver ORCID: 0000-0003-0029-7556 and Schoenau, Eckhard (2014). Effect of Denosumab on the Growing Skeleton in Osteogenesis Imperfecta. J. Clin. Endocrinol. Metab., 99 (11). S. 3954 - 3956. WASHINGTON: ENDOCRINE SOC. ISSN 1945-7197

Hoyer-Kuhn, Heike, Semler, Oliver ORCID: 0000-0003-0029-7556, Schoenau, Eckhard, Roschger, Paul, Klaushofer, Klaus and Rauch, Frank ORCID: 0000-0002-6261-0360 (2013). Hyperosteoidosis and Hypermineralization in the Same Bone: Bone Tissue Analyses in a Boy with a Homozygous BMP1 Mutation. Calcif. Tissue Int., 93 (6). S. 565 - 571. NEW YORK: SPRINGER. ISSN 1432-0827

Hoyer-Kuhn, Heike, Starke, Christina, Franklin, Jeremy ORCID: 0000-0003-1536-0925, Schoenau, Eckhard and Semler, Oliver (2017). Correlation of Bone Mineral Density on Quality of Life in Patients with Osteogenesis Imperfecta during Treatment with Denosumab. Pediatr. Endocrinol. Rev. PER, 15. S. 123 - 130. NETANYA: MEDICAL MEDIA. ISSN 1565-4753

Li, Guowei, Jin, Yanling, Levine, Mitchell A. H., Hoyer-Kuhn, Heike, Ward, Leanne and Adachi, Jonathan D. (2018). Systematic review of the effect of denosumab on children with osteogenesis imperfecta showed inconsistent findings. Acta Paediatr., 107 (3). S. 534 - 538. HOBOKEN: WILEY. ISSN 1651-2227

Rehberg, Mirko, Azim, Manuela, Martakis, Kyriakos, Winzenrieth, Renaud, Hoyer-Kuhn, Heike, Schoenau, Eckhard, Semler, Oliver and Duran, Ibrahim ORCID: 0000-0003-4044-8822 (2020). Bone Microarchitecture Assessed by Trabecular Bone Score Is Independent of Mobility Level or Height in Pediatric Patients with Cerebral Palsy. J. Bone Miner. Res., 35 (9). S. 1685 - 1695. HOBOKEN: WILEY. ISSN 1523-4681

Rehberg, Mirko, Semler, Oliver, Hoyer-Kuhn, Heike, Schoenau, Eckhard and Winzenrieth, Renaud (2016). Effect of Bisphosphonates and Denosumab on Trabecular Bone: Results of a Pilot Study in Children with Osteogenesis Imperfecta. Horm. Res. Paediatr., 86. S. 180 - 181. BASEL: KARGER. ISSN 1663-2826

Rehberg, Mirko, Winzenrieth, Renaud, Hoyer-Kuhn, Heike, Duran, Ibrahim ORCID: 0000-0003-4044-8822, Schoenau, Eckhard and Semler, Oliver (2019). TBS as a Tool to Differentiate the Impact of Antiresorptives on Cortical and Trabecular Bone in Children With Osteogenesis Imperfecta. J. Clin. Densitom., 22 (2). S. 229 - 236. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1559-0747

Semler, Oliver ORCID: 0000-0003-0029-7556, Rehberg, Mirko, Mehdiani, Nava, Jackels, Miriam and Hoyer-Kuhn, Heike (2019). Current and Emerging Therapeutic Options for the Management of Rare Skeletal Diseases. Pediatr. Drugs, 21 (2). S. 95 - 107. NORTHCOTE: ADIS INT LTD. ISSN 1179-2019

Semler, Oliver, Rehberg, Mirko, Neuburg, Lisa, Schoenau, Eckhard and Hoyer-Kuhn, Heike (2017). DENOSUMAB IN OSTEOGENESIS IMPERFECTA - INDIVIDUALIZED TREATMENT AFTER A PILOT TRIAL. Horm. Res. Paediatr., 88. S. 445 - 446. BASEL: KARGER. ISSN 1663-2826

Teller, Inga C., Hoyer-Kuhn, Heike, Broenneke, Hella, Nosthoff-Horstmann, Pia, Oosting, Annemarie, Lippach, Gregor, Wohlfarth, Maria, Rauh, Manfred, van der Beek, Eline M., Doetsch, Joerg and Nuesken, Kai D. (2018). Complex lipid globules in early-life nutrition improve long-term metabolic phenotype in intra-uterine growth-restricted rats. Br. J. Nutr., 120 (7). S. 763 - 777. CAMBRIDGE: CAMBRIDGE UNIV PRESS. ISSN 1475-2662

van Dijk, Fleur S., Semler, Oliver, Etich, Julia ORCID: 0000-0003-3238-6692, Koehler, Anna, Jimenez-Estrada, Juan A., Bravenboer, Nathalie, Claeys, Lauria, Riesebos, Elise, Gegic, Sejla, Piersma, Sander R., Jimenez, Connie R., Waisfisz, Quinten, Flores, Carmen-Lisset ORCID: 0000-0002-2439-5030, Nevado, Julian, Harsevoort, Arjan J., Janus, Guus J. M., Franken, Anton A. M., van der Sar, Astrid M., Meijers-Heijboer, Hanne, Heath, Karen E., Lapunzina, Pablo, Nikkels, Peter G. J., Santen, Gijs W. E., Nuechel, Julian, Plomann, Markus, Wagener, Raimund, Rehberg, Mirko, Hoyer-Kuhn, Heike, Eekhoff, Elisabeth M. W., Pals, Gerard, Morgelin, Matthias, Newstead, Simon, Wilson, Brian T., Ruiz-Perez, Victor L., Maugeri, Alessandra, Netzer, Christian, Zaucke, Frank and Micha, Dimitra ORCID: 0000-0001-7890-4411 (2020). Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2. Am. J. Hum. Genet., 107 (5). S. 989 - 1000. CAMBRIDGE: CELL PRESS. ISSN 1537-6605