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Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen
Costantini, Alice, Mäkitie, Riikka E., Hartmann, Markus A., Fratzl‐Zelman, Nadja, Zillikens, M. Carola, Kornak, Uwe, Søe, Kent, Mäkitie, Outi
Published in Journal of Bone and Mineral Research (01.09.2022)
Published in Journal of Bone and Mineral Research (01.09.2022)
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Journal Article
Bone Matrix Mineralization and Response to Burosumab in Adult Patients With X‐Linked Hypophosphatemia: Results From the Phase 3, Single‐Arm International Trial
Fratzl‐Zelman, Nadja, Hartmann, Markus A., Gamsjaeger, Sonja, Rokidi, Stamatia, Paschalis, Eleftherios P., Blouin, Stéphane, Zwerina, Jochen
Published in Journal of bone and mineral research (01.09.2022)
Published in Journal of bone and mineral research (01.09.2022)
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Journal Article
A neomorphic variant in SP7 alters sequence specificity and causes a high-turnover bone disorder
Lui, Julian C., Raimann, Adalbert, Hojo, Hironori, Dong, Lijin, Roschger, Paul, Kikani, Bijal, Wintergerst, Uwe, Fratzl-Zelman, Nadja, Jee, Youn Hee, Haeusler, Gabriele, Baron, Jeffrey
Published in Nature communications (04.02.2022)
Published in Nature communications (04.02.2022)
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Journal Article
Hypermineralization and High Osteocyte Lacunar Density in Osteogenesis Imperfecta Type V Bone Indicate Exuberant Primary Bone Formation
Blouin, Stéphane, Fratzl‐Zelman, Nadja, Glorieux, Francis H, Roschger, Paul, Klaushofer, Klaus, Marini, Joan C, Rauch, Frank
Published in Journal of bone and mineral research (01.09.2017)
Published in Journal of bone and mineral research (01.09.2017)
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Journal Article
Reversible Deterioration in Hypophosphatasia Caused by Renal Failure With Bisphosphonate Treatment
Cundy, Tim, Michigami, Toshimi, Tachikawa, Kanako, Dray, Michael, Collins, John F, Paschalis, Eleftherios P, Gamsjaeger, Sonja, Roschger, Andreas, Fratzl‐Zelman, Nadja, Roschger, Paul, Klaushofer, Klaus
Published in Journal of bone and mineral research (01.09.2015)
Published in Journal of bone and mineral research (01.09.2015)
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Journal Article
Distinct Clinical and Pathological Features of Melorheostosis Associated With Somatic MAP2K1 Mutations
Jha, Smita, Fratzl‐Zelman, Nadja, Roschger, Paul, Papadakis, Georgios Z, Cowen, Edward W, Kang, Heeseog, Lehky, Tanya J, Alter, Katharine, Deng, Zuoming, Ivovic, Aleksandra, Flynn, Lauren, Reynolds, James C, Dasgupta, Abhijit, Miettinen, Markku, Lange, Eileen, Katz, James, Klaushofer, Klaus, Marini, Joan C, Siegel, Richard M, Bhattacharyya, Timothy
Published in Journal of bone and mineral research (01.01.2019)
Published in Journal of bone and mineral research (01.01.2019)
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Journal Article
Melorheostotic Bone Lesions Caused by Somatic Mutations in MAP2K1 Have Deteriorated Microarchitecture and Periosteal Reaction
Fratzl‐Zelman, Nadja, Roschger, Paul, Kang, Heeseog, Jha, Smita, Roschger, Andreas, Blouin, Stéphane, Deng, Zuoming, Cabral, Wayne A, Ivovic, Aleksandra, Katz, James, Siegel, Richard M, Klaushofer, Klaus, Fratzl, Peter, Bhattacharyya, Timothy, Marini, Joan C
Published in Journal of bone and mineral research (01.05.2019)
Published in Journal of bone and mineral research (01.05.2019)
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Journal Article
Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress
El‐Gazzar, Ahmed, Voraberger, Barbara, Rauch, Frank, Mairhofer, Mario, Schmidt, Katy, Guillemyn, Brecht, Mitulović, Goran, Reiterer, Veronika, Haun, Margot, Mayr, Michaela M, Mayr, Johannes A, Kimeswenger, Susanne, Drews, Oliver, Saraff, Vrinda, Shaw, Nick, Fratzl‐Zelman, Nadja, Symoens, Sofie, Farhan, Hesso, Högler, Wolfgang
Published in EMBO molecular medicine (11.04.2023)
Published in EMBO molecular medicine (11.04.2023)
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Journal Article
Fkbp10 Deletion in Osteoblasts Leads to Qualitative Defects in Bone
Lietman, Caressa D, Lim, Joohyun, Grafe, Ingo, Chen, Yuqing, Ding, Hao, Bi, Xiaohong, Ambrose, Catherine G, Fratzl‐Zelman, Nadja, Roschger, Paul, Klaushofer, Klaus, Wagermaier, Wolfgang, Schmidt, Ingo, Fratzl, Peter, Rai, Jyoti, Weis, MaryAnn, Eyre, David, Keene, Douglas R, Krakow, Deborah, Lee, Brendan H
Published in Journal of bone and mineral research (01.06.2017)
Published in Journal of bone and mineral research (01.06.2017)
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Journal Article
Novel PLS3 variants in X‐linked osteoporosis: Exploring bone material properties
Balasubramanian, Meena, Fratzl‐Zelman, Nadja, O'Sullivan, Rory, Bull, Mary, FA Peel, Nicola, Pollitt, Rebecca C, Jones, Rebecca, Milne, Elizabeth, Smith, Kath, Roschger, Paul, Klaushofer, Klaus, Bishop, Nicholas J
Published in American journal of medical genetics. Part A (01.07.2018)
Published in American journal of medical genetics. Part A (01.07.2018)
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Journal Article
Abnormally High and Heterogeneous Bone Matrix Mineralization After Childhood Solid Organ Transplantation: A Complex Pathology of Low Bone Turnover and Local Defects in Mineralization
Fratzl‐Zelman, Nadja, Valta, Helena, Pereira, Renata C, Misof, Barbara M, Roschger, Paul, Jalanko, Hannu, Wesseling‐Perry, Katherine, Klaushofer, Klaus, Mäkitie, Outi
Published in Journal of bone and mineral research (01.05.2017)
Published in Journal of bone and mineral research (01.05.2017)
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Journal Article
Abnormal Bone Tissue Organization and Osteocyte Lacunocanalicular Network in Early‐Onset Osteoporosis Due to SGMS2 Mutations
Mäkitie, Riikka E., Blouin, Stéphane, Välimäki, Ville‐Valtteri, Pihlström, Sandra, Määttä, Kirsi, Pekkinen, Minna, Fratzl‐Zelman, Nadja, Mäkitie, Outi, Hartmann, Markus A.
Published in JBMR plus (01.11.2021)
Published in JBMR plus (01.11.2021)
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Journal Article
Alterations of bone material properties in growing Ifitm5/BRIL p.S42 knock-in mice, a new model for atypical type VI osteogenesis imperfecta
Hedjazi, Ghazal, Guterman-Ram, Gali, Blouin, Stéphane, Schemenz, Victoria, Wagermaier, Wolfgang, Fratzl, Peter, Hartmann, Markus A., Zwerina, Jochen, Fratzl-Zelman, Nadja, Marini, Joan C.
Published in Bone (New York, N.Y.) (01.09.2022)
Published in Bone (New York, N.Y.) (01.09.2022)
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Journal Article
Quantitative Backscattered Electron Imaging of Bone Using a Thermionic or a Field Emission Electron Source
Hartmann, Markus A., Blouin, Stéphane, Misof, Barbara M., Fratzl-Zelman, Nadja, Roschger, Paul, Berzlanovich, Andrea, Gruber, Gerlinde M., Brugger, Peter C., Zwerina, Jochen, Fratzl, Peter
Published in Calcified tissue international (01.08.2021)
Published in Calcified tissue international (01.08.2021)
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Journal Article
Somatic activating mutations in MAP2K1 cause melorheostosis
Kang, Heeseog, Jha, Smita, Deng, Zuoming, Fratzl-Zelman, Nadja, Cabral, Wayne A., Ivovic, Aleksandra, Meylan, Françoise, Hanson, Eric P., Lange, Eileen, Katz, James, Roschger, Paul, Klaushofer, Klaus, Cowen, Edward W., Siegel, Richard M., Marini, Joan C., Bhattacharyya, Timothy
Published in Nature communications (11.04.2018)
Published in Nature communications (11.04.2018)
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Journal Article
Evidence for a Role for Nanoporosity and Pyridinoline Content in Human Mild Osteogenesis Imperfecta
Paschalis, Eleftherios P, Gamsjaeger, Sonja, Fratzl‐Zelman, Nadja, Roschger, Paul, Masic, Admir, Brozek, Wolfgang, Hassler, Norbert, Glorieux, Francis H, Rauch, Frank, Klaushofer, Klaus, Fratzl, Peter
Published in Journal of bone and mineral research (01.05.2016)
Published in Journal of bone and mineral research (01.05.2016)
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Journal Article
Delayed bone regeneration and low bone mass in a rat model of insulin-resistant type 2 diabetes mellitus is due to impaired osteoblast function
Hamann, Christine, Goettsch, Claudia, Mettelsiefen, Jan, Henkenjohann, Veit, Rauner, Martina, Hempel, Ute, Bernhardt, Ricardo, Fratzl-Zelman, Nadja, Roschger, Paul, Rammelt, Stefan, Günther, Klaus-Peter, Hofbauer, Lorenz C.
Published in American journal of physiology: endocrinology and metabolism (01.12.2011)
Published in American journal of physiology: endocrinology and metabolism (01.12.2011)
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Journal Article
Cardiac, bone and growth plate manifestations in hypocalcemic infants: revealing the hidden body of the vitamin D deficiency iceberg
Uday, Suma, Fratzl-Zelman, Nadja, Roschger, Paul, Klaushofer, Klaus, Chikermane, Ashish, Saraff, Vrinda, Tulchinsky, Ted, Thacher, Tom D., Marton, Tamas, Högler, Wolfgang
Published in BMC pediatrics (26.06.2018)
Published in BMC pediatrics (26.06.2018)
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Journal Article
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta
Lindahl, Katarina, Barnes, Aileen M., Fratzl-Zelman, Nadja, Whyte, Michael P., Hefferan, Theresa E., Makareeva, Elena, Brusel, Marina, Yaszemski, Michael J., Rubin, Carl-Johan, Kindmark, Andreas, Roschger, Paul, Klaushofer, Klaus, McAlister, William H., Mumm, Steven, Leikin, Sergey, Kessler, Efrat, Boskey, Adele L., Ljunggren, Östen, Marini, Joan C.
Published in Human mutation (01.06.2011)
Published in Human mutation (01.06.2011)
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Journal Article