Works matching DE "OSTEOGENESIS imperfecta"

Results: 1468

Flush and Bone: Funeralizing Alkaline Hydrolysis in the United States.
Published in:
Science, Technology & Human Values, 2014, v. 39, n. 5, p. 666, doi. 10.1177/0162243914530475
By:
- Olson, Philip R.
Publication type:
Article
Evaluation of high resolution thermal imaging to determine the effect of vertebral fractures on associated skin surface temperature in children with osteogenesis imperfecta.
Published in:
2018
By:
- Fane De Salis, Alexandra;
- Saatchi, Reza;
- Dimitri, Paul
Publication type:
journal article
Geometry reconstruction method for patient-specific finite element models for the assessment of tibia fracture risk in osteogenesis imperfecta.
Published in:
2017
By:
- Caouette, Christiane;
- Ikin, Nicole;
- Villemure, Isabelle;
- Arnoux, Pierre-Jean;
- Rauch, Frank;
- Aubin, Carl-Éric;
- Aubin, Carl-Éric
Publication type:
journal article
Dental Implications of Osteogenesis Imperfecta: Treatment with IV Bisphosphonate: Report of a Case.
Published in:
2011
By:
- Milano, Michael;
- Wright, Timothy;
- Loechner, Karen J.
Publication type:
Case Study
Abstracts of the Scientific Literature.
Published in:
2007
Publication type:
Abstract
Orthopedic Surgery in Osteogenesis Imperfecta in Adults.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 976, doi. 10.1007/s00223-024-01306-0
By:
- Bizot, Pascal
Publication type:
Article
Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 960, doi. 10.1007/s00223-024-01305-1
By:
- Celli, Luca;
- Garrelfs, Mark R.;
- Sakkers, Ralph J. B.;
- Elting, Mariet W.;
- Celli, Mauro;
- Bökenkamp, Arend;
- Smits, Cas;
- Goderie, Thadé;
- Smit, Jan Maerten;
- Schwarte, Lothar A.;
- Schober, Patrick R.;
- Lubbers, Wouter D.;
- Visser, Marieke C.;
- Kievit, Arthur J.;
- van Royen, Barend J.;
- Gilijamse, Marjolijn;
- Schreuder, Willem H.;
- Rustemeyer, Thomas;
- Pramana, Angela;
- Hendrickx, Jan-Jaap
Publication type:
Article
Osteogenesis Imperfecta from Bench to Bedside and from Cradle to Grave.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 775, doi. 10.1007/s00223-024-01304-2
By:
- Folkestad, Lars;
- Ralston, Stuart H.
Publication type:
Article
Zebrafish Models for Skeletal and Extraskeletal Osteogenesis Imperfecta Features: Unveiling Pathophysiology and Paving the Way for Drug Discovery.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 931, doi. 10.1007/s00223-024-01282-5
By:
- Masiero, Cecilia;
- Aresi, Carla;
- Forlino, Antonella;
- Tonelli, Francesca
Publication type:
Article
Skeletal and Non-skeletal Phenotypes in Children with Osteogenesis Imperfecta.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 923, doi. 10.1007/s00223-024-01276-3
By:
- Marulanda, Juliana;
- Retrouvey, Jean-Marc;
- Rauch, Frank
Publication type:
Article
Analyses of Osteogenesis Imperfecta in South Korea Using the Nationwide Health Insurance Service Claim Data: A Propensity Score-Matched Study.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 915, doi. 10.1007/s00223-024-01274-5
By:
- Park, Sin Hyung;
- Yoon, Ho;
- Yoon, Siyeong;
- Chung, Jaiwoo;
- Kim, Jae-hyun;
- Lee, Soonchul
Publication type:
Article
Update on the Genetics of Osteogenesis Imperfecta.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 891, doi. 10.1007/s00223-024-01266-5
By:
- Jovanovic, Milena;
- Marini, Joan C.
Publication type:
Article
Bone Quality and Mineralization and Effects of Treatment in Osteogenesis Imperfecta.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 777, doi. 10.1007/s00223-024-01263-8
By:
- Misof, Barbara M.;
- Fratzl-Zelman, Nadja
Publication type:
Article
A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 873, doi. 10.1007/s00223-024-01248-7
By:
- Sillence, David Owen
Publication type:
Article
Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 863, doi. 10.1007/s00223-024-01236-x
By:
- Hald, Jannie Dahl;
- Langdahl, Bente;
- Folkestad, Lars;
- Wekre, Lena Lande;
- Johnson, Riley;
- Nagamani, Sandesh C. S.;
- Raggio, Cathleen;
- Ralston, Stuart H.;
- Semler, Oliver;
- Tosi, Laura;
- Orwoll, Eric
Publication type:
Article
Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 847, doi. 10.1007/s00223-024-01213-4
By:
- Crawford, Tara K.;
- Lafaver, Brittany N.;
- Phillips, Charlotte L.
Publication type:
Article
Optimising Health-Related Quality of Life in Children With Osteogenesis Imperfecta.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 828, doi. 10.1007/s00223-024-01205-4
By:
- Hill, Claire L;
- Ford, Davina;
- Baker, Jill
Publication type:
Article
Medical Management for Fracture Prevention in Children with Osteogenesis Imperfecta.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 812, doi. 10.1007/s00223-024-01202-7
By:
- Arundel, Paul;
- Bishop, Nick
Publication type:
Article
Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta.
Published in:
Calcified Tissue International, 2024, v. 115, n. 6, p. 805, doi. 10.1007/s00223-024-01188-2
By:
- Liu, Winnie;
- Nicol, Lindsey;
- Orwoll, Eric
Publication type:
Article
Dental Abnormalities in Osteogenesis Imperfecta: A Systematic Review.
Published in:
Calcified Tissue International, 2024, v. 115, n. 5, p. 461, doi. 10.1007/s00223-024-01293-2
By:
- Ventura, Laura;
- Verdonk, Sara J. E.;
- Zhytnik, Lidiia;
- Ridwan-Pramana, Angela;
- Gilijamse, Marjolijn;
- Schreuder, Willem H.;
- van Gelderen-Ziesemer, Kirsten A.;
- Schoenmaker, Ton;
- Micha, Dimitra;
- Eekhoff, Elisabeth M. W.
Publication type:
Article
Evaluation of the Nordic Musculoskeletal Questionnaire for Measuring Prevalence and the Consequence of Pain in a Danish Adult OI Population: A Pilot Study.
Published in:
Calcified Tissue International, 2024, v. 115, n. 4, p. 405, doi. 10.1007/s00223-024-01262-9
By:
- Horn, Camilla Gehling;
- Jensen, Karsten;
- Hartvigsen, Jan;
- Wekre, Lena Lande;
- Skou, Søren T.;
- Folkestad, Lars
Publication type:
Article
The PATCH study: Prevalence of Hearing Loss During Ageing and Treatment Choices in Osteogenesis Imperfecta: A Danish Nationwide Register-Based Cohort Study.
Published in:
Calcified Tissue International, 2024, v. 115, n. 3, p. 260, doi. 10.1007/s00223-024-01253-w
By:
- Haumann, Sara Kretzschmar;
- Sørensen, Jesper Roed;
- Schmidt, Jesper Hvass;
- Folkestad, Lars
Publication type:
Article
Effect of Allele-Specific Clcn7G213R siRNA Delivered Via a Novel Nanocarrier on Bone Phenotypes in ADO2 Mice on 129S Background.
Published in:
Calcified Tissue International, 2024, v. 115, n. 1, p. 85, doi. 10.1007/s00223-024-01222-3
By:
- Saffie-Siebert, Suzanne;
- Alam, Imranul;
- Sutera, Flavia Maria;
- Dehsorkhi, Ashkan;
- Torabi-Pour, Nissim;
- Baran-Rachwalska, Paulina;
- Iamartino, Luca;
- Teti, Anna;
- Maurizi, Antonio;
- Gerard-O'Riley, Rita L.;
- Acton, Dena;
- Econs, Michael J.
Publication type:
Article
Is Osteogenesis Imperfecta Associated with Cardiovascular Abnormalities? A Systematic Review of the Literature.
Published in:
Calcified Tissue International, 2024, v. 114, n. 3, p. 210, doi. 10.1007/s00223-023-01171-3
By:
- Verdonk, Sara J. E.;
- Storoni, Silvia;
- Micha, Dimitra;
- van den Aardweg, Joost G.;
- Versacci, Paolo;
- Celli, Luca;
- de Vries, Ralph;
- Zhytnik, Lidiia;
- Kamp, Otto;
- Bugiani, Marianna;
- Eekhoff, Elisabeth M. W.
Publication type:
Article
Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1.
Published in:
Calcified Tissue International, 2023, v. 113, n. 2, p. 186, doi. 10.1007/s00223-023-01101-3
By:
- Verdonk, S. J. E.;
- Storoni, S.;
- Zhytnik, L.;
- Zhong, W.;
- Pals, G.;
- van Royen, B. J.;
- Elting, M. W.;
- Maugeri, A.;
- Eekhoff, E. M. W.;
- Micha, D.
Publication type:
Article
Mitigating the Denosumab-Induced Rebound Phenomenon with Alternating Short- and Long-Acting Anti-resorptive Therapy in a Young Boy with Severe OI Type VI.
Published in:
2023
By:
- Seale, Emily;
- Molina, Maria Ochoa;
- Carsen, Sasha;
- Sheffield, Holden;
- Koujok, Khaldoun;
- Robinson, Marie-Eve;
- Feber, Janusz;
- Smit, Kevin;
- Page, Marika;
- Walker, Scott;
- Khan, Nasrin;
- Konji, Victor N.;
- Rauch, Frank;
- Ward, Leanne M.
Publication type:
Case Study
Rare Association Between Osteogenesis Imperfecta and Chondrosarcoma: Could a Pathogenic Variant in the Gene SERPINF1 Explain It?
Published in:
2023
By:
- Amorim, Débora Meira Ramos;
- Koga, Gustavo Kendy Camargo;
- dos Santos, Rodrigo Nolasco;
- Secundo, Paulo Fernando Carvalho;
- de Ávila Fernandes, Eloy;
- Cardili, Leonardo;
- Maeda, Sergio Setsuo;
- da Rocha Corrêa Fernandes, Artur;
- Lazaretti-Castro, Marise
Publication type:
Case Study
Specific Characteristic of Hyperplastic Callus in a Larger Cohort of Osteogenesis Imperfecta Type V.
Published in:
Calcified Tissue International, 2022, v. 110, n. 4, p. 451, doi. 10.1007/s00223-021-00932-2
By:
- Zheng, Wen-bin;
- Hu, Jing;
- Zhang, Jia;
- Yang, Zheng;
- Wang, Ou;
- Jiang, Yan;
- Xia, Wei-bo;
- Xing, Xiao-ping;
- Yu, Wei;
- Li, Mei
Publication type:
Article
Pamidronate Therapy Increases Trabecular Bone Complexity of Mandibular Condyles in Individuals with Osteogenesis Imperfecta.
Published in:
Calcified Tissue International, 2022, v. 110, n. 3, p. 303, doi. 10.1007/s00223-021-00915-3
By:
- Pantoja, Letícia L. Quirino;
- Lustosa, Mariana;
- Yamaguti, Paulo Márcio;
- Rosa, Lídia S.;
- Leite, André Ferreira;
- Figueiredo, Paulo Tadeu S.;
- Castro, Luiz Claudio;
- Acevedo, Ana Carolina
Publication type:
Article
Long-Term Follow-Up Outcomes of 19 Patients with Osteogenesis Imperfecta Type XI and Bruck Syndrome Type I Caused by FKBP10 Variants.
Published in:
Calcified Tissue International, 2021, v. 109, n. 6, p. 633, doi. 10.1007/s00223-021-00879-4
By:
- Yüksel Ülker, Aylin;
- Uludağ Alkaya, Dilek;
- Elkanova, Leyla;
- Şeker, Ali;
- Akpınar, Evren;
- Akarsu, Nurten Ayşe;
- Uyguner, Zehra Oya;
- Tüysüz, Beyhan
Publication type:
Article
A Novel IFITM5 Variant Associated with Phenotype of Osteoporosis with Calvarial Doughnut Lesions: A Case Report.
Published in:
Calcified Tissue International, 2021, v. 109, n. 6, p. 626, doi. 10.1007/s00223-021-00878-5
By:
- Mäkitie, R. E.;
- Pekkinen, M.;
- Morisada, N.;
- Kobayashi, D.;
- Yonezawa, Y.;
- Nishimura, G.;
- Ikegawa, S.;
- Mäkitie, O.
Publication type:
Article
Abnormalities in Tooth Formation after Early Bisphosphonate Treatment in Children with Osteogenesis Imperfecta.
Published in:
Calcified Tissue International, 2021, v. 109, n. 2, p. 121, doi. 10.1007/s00223-021-00835-2
By:
- Malmgren, Barbro;
- Thesleff, Irma;
- Dahllöf, Göran;
- Åström, Eva;
- Tsilingaridis, Georgios
Publication type:
Article
Whole-Exome Sequencing Identifies Novel Compound Heterozygous ZNF469 Mutations in Two Siblings with Mild Brittle Cornea Syndrome.
Published in:
2020
By:
- Rolvien, Tim;
- Kornak, Uwe;
- Linke, Stephan J.;
- Amling, Michael;
- Oheim, Ralf
Publication type:
journal article
Bisphosphonate Therapy and Tooth Development in Children and Adolescents with Osteogenesis Imperfecta.
Published in:
Calcified Tissue International, 2020, v. 107, n. 2, p. 143, doi. 10.1007/s00223-020-00707-1
By:
- Malmgren, Barbro;
- Tsilingaridis, Georgios;
- Monsef-Johansson, Nina;
- Qahtani, Zaina Haif Al;
- Dahllöf, Göran;
- Åström, Eva
Publication type:
Article
Sclerostin-Antibody Treatment Decreases Fracture Rates in Axial Skeleton and Improves the Skeletal Phenotype in Growing oim/oim Mice.
Published in:
2020
By:
- Cardinal, Mickaël;
- Dessain, Alicia;
- Roels, Thomas;
- Lafont, Sébastien;
- Ominsky, Michael S.;
- Devogelaer, Jean-Pierre;
- Chappard, Daniel;
- Mabilleau, Guillaume;
- Ammann, Patrick;
- Nyssen-Behets, Catherine;
- Manicourt, Daniel H.
Publication type:
journal article
Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia.
Published in:
2019
By:
- Hepp, Nicola;
- Frederiksen, Anja Lisbeth;
- Dunø, Morten;
- Jørgensen, Niklas Rye;
- Langdahl, Bente;
- Vedtofte, Poul;
- Hove, Hanne B.;
- Hindsø, Klaus;
- Jensen, Jens-Erik Beck
Publication type:
journal article
Fibrogenesis Imperfecta Ossium.
Published in:
2019
By:
- Bhadada, Sanjay Kumar;
- Dhaliwal, Ruban;
- Dhiman, Vandana;
- Rao, Sudhaker D.
Publication type:
journal article
Bone Marrow Transplantation for Treatment of the Col1a2+/G610C Osteogenesis Imperfecta Mouse Model.
Published in:
2019
By:
- Lee, Lucinda R.;
- Peacock, Lauren;
- Ginn, Samantha L.;
- Cantrill, Laurence C.;
- Cheng, Tegan L.;
- Little, David G.;
- Munns, Craig F.;
- Schindeler, Aaron
Publication type:
journal article
Early Fracture Healing is Delayed in the Col1a2+/G610C Osteogenesis Imperfecta Murine Model.
Published in:
2018
By:
- Besio, Roberta;
- Maruelli, Silvia;
- Battaglia, Severine;
- Leoni, Laura;
- Villani, Simona;
- Layrolle, Pierre;
- Rossi, Antonio;
- Trichet, Valerie;
- Forlino, Antonella
Publication type:
journal article
Diagnosis of Recurrent Fracture in a Pediatric Cohort.
Published in:
2018
By:
- Fiscaletti, M.;
- Coorey, C. P.;
- Biggin, A.;
- Briody, J.;
- Little, D. G.;
- Schindeler, A.;
- Munns, C. F.
Publication type:
journal article
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis.
Published in:
2018
By:
- Rolvien, Tim;
- Stürznickel, Julian;
- Schmidt, Felix N.;
- Butscheidt, Sebastian;
- Schmidt, Tobias;
- Busse, Björn;
- Mundlos, Stefan;
- Schinke, Thorsten;
- Kornak, Uwe;
- Amling, Michael;
- Oheim, Ralf
Publication type:
journal article
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation.
Published in:
2018
By:
- Costantini, Alice;
- Tournis, Symeon;
- Kämpe, Anders;
- Ul Ain, Noor;
- Taylan, Fulya;
- Doulgeraki, Artemis;
- Mäkitie, Outi
Publication type:
journal article
Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.
Published in:
2018
By:
- Lindert, U.;
- Gnoli, M.;
- Maioli, M.;
- Bedeschi, M.F.;
- Sangiorgi, L.;
- Rohrbach, M.;
- Giunta, C.
Publication type:
journal article
Novel Mutations in PLOD2 Cause Rare Bruck Syndrome.
Published in:
2018
By:
- Lv, Fang;
- Xu, Xiaojie;
- Song, Yuwen;
- Li, Lujiao;
- Asan;
- Wang, Jian;
- Yang, Huanming;
- Wang, Ou;
- Jiang, Yan;
- Xia, Weibo;
- Xing, Xiaoping;
- Li, Mei
Publication type:
journal article
Health-Related Quality of Life in Adults with Osteogenesis Imperfecta.
Published in:
2017
By:
- Hald, Jannie;
- Folkestad, Lars;
- Harsløf, Torben;
- Brixen, Kim;
- Langdahl, Bente;
- Hald, Jannie Dahl;
- Harsløf, Torben
Publication type:
journal article
Muscle Function in Osteogenesis Imperfecta Type IV.
Published in:
2017
By:
- Veilleux, Louis-Nicolas;
- Darsaklis, Vasiliki;
- Montpetit, Kathleen;
- Glorieux, Francis;
- Rauch, Frank;
- Darsaklis, Vasiliki B;
- Glorieux, Francis H
Publication type:
journal article
Effect of SDF-1/Cxcr4 Signaling Antagonist AMD3100 on Bone Mineralization in Distraction Osteogenesis.
Published in:
2017
By:
- Xu, Jia;
- Chen, Yuanfeng;
- Liu, Yang;
- Zhang, Jinfang;
- Kang, Qinglin;
- Ho, Kiwai;
- Chai, Yimin;
- Li, Gang
Publication type:
journal article
Long-term Effects of Neridronate in Adults with Osteogenesis Imperfecta: An Observational Three-Year Italian Study.
Published in:
2017
By:
- Viapiana, O.;
- Idolazzi, L.;
- Fassio, A.;
- Orsolini, G.;
- Rossini, M.;
- Adami, G.;
- Bertoldo, F.;
- Gatti, D.
Publication type:
journal article
Theobromine Upregulates Osteogenesis by Human Mesenchymal Stem Cells In Vitro and Accelerates Bone Development in Rats.
Published in:
2017
By:
- Clough, Bret;
- Ylostalo, Joni;
- Browder, Elizabeth;
- McNeill, Eoin;
- Bartosh, Thomas;
- Rawls, H.;
- Nakamoto, Tetsuo;
- Gregory, Carl;
- Clough, Bret H;
- McNeill, Eoin P;
- Bartosh, Thomas J;
- Rawls, H Ralph;
- Gregory, Carl A
Publication type:
journal article
Novel Mutations in SERPINF1 Result in Rare Osteogenesis Imperfecta Type VI.
Published in:
2017
By:
- Wang, Jian-yi;
- Liu, Yi;
- Song, Li-jie;
- Lv, Fang;
- Xu, Xiao-jie;
- San, A.;
- Wang, Jian;
- Yang, Huan-ming;
- Yang, Zi-ying;
- Jiang, Yan;
- Wang, Ou;
- Xia, Wei-bo;
- Xing, Xiao-ping;
- Li, Mei
Publication type:
journal article