المؤلفون: Richard, Ssekabembe¹ (AUTHOR), Robert, Natumanya² (AUTHOR), Sambo, Vanusa Da Consolação¹ (AUTHOR), Daniel, Abonga^1,3 (AUTHOR), Ronald, Okidi^1,3 (AUTHOR) ronnieokidi@gmail.com

المصدر: Journal of Medical Case Reports. 1/20/2025, Vol. 19 Issue 1, p1-5. 5p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *RESOURCE-limited settings, *MEDICAL sciences, *BONE health, *BONE density

المؤلفون: Dalle Carbonare, Luca¹ (AUTHOR) luca.dallecarbonare@univr.it, Braggio, Michele² (AUTHOR) michele.braggio@univr.it, Minoia, Arianna¹ (AUTHOR) arianna.minoia@univr.it, Cominacini, Mattia¹ (AUTHOR) mattia.cominacini@univr.it, Romanelli, Maria Grazia² (AUTHOR) mariagrazia.romanelli@univr.it, Pessoa, João³ (AUTHOR) joao.pessoa@ua.pt, Tiso, Natascia⁴ (AUTHOR) natascia.tiso@unipd.it, Valenti, Maria Teresa² (AUTHOR) mariateresa.valenti@univr.it

المصدر: Cells (2073-4409). Jan2025, Vol. 14 Issue 1, p28. 24p.

مصطلحات موضوعية: *DUCHENNE muscular dystrophy, *OSTEOGENESIS imperfecta, *MUSCULOSKELETAL system diseases, *BONE diseases, *ZEBRA danio, *BRACHYDANIO

المؤلفون: Sakamoto, Kei¹ (AUTHOR), Miyazaki, Osamu¹ (AUTHOR) miyazaki-o@ncchd.go.jp, Imai, Ayako¹ (AUTHOR), Okamoto, Reiko¹ (AUTHOR), Tsutsumi, Yoshiyuki¹ (AUTHOR), Miyasaka, Mikiko¹ (AUTHOR), Seki, Atsuhito² (AUTHOR), Yoshioka, Takako³ (AUTHOR), Nosaka, Shunsuke¹ (AUTHOR)

المصدر: Skeletal Radiology. Jan2025, Vol. 54 Issue 1, p147-151. 5p.

مصطلحات موضوعية: *MAGNETIC resonance angiography, *OSTEOGENESIS imperfecta, *SPONTANEOUS fractures, *TIBIAL fractures, *MEDICAL sciences

المؤلفون: Chen, Po-Jung¹ (AUTHOR) pchen@unmc.edu, Wang, Ke² (AUTHOR), Lin, Meng-Hsuan³ (AUTHOR), Sharma, Radhika⁴ (AUTHOR), Kalajzic, Zana⁵ (AUTHOR), O'Brien, Mara⁵ (AUTHOR), Yadav, Sumit¹ (AUTHOR)

المصدر: Scientific Reports. 1/2/2025, Vol. 15 Issue 1, p1-12. 12p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *CORRECTIVE orthodontics, *PERIODONTAL ligament, *MEDICAL sciences, *BONE growth, *BONE resorption

المؤلفون: Lenoir, Alexandra¹ (AUTHOR) alexandra.lenoir@med.uni-muenchen.de, Aubry-Rozier, Bérengère² (AUTHOR) berengere.rozieraubry@hirslanden.ch, Bregou, Aline³ (AUTHOR) aline.bregou@chuv.ch, Gonzalez Rodriguez, Elena⁴ (AUTHOR) elena.gonzalez-rodriguez@chuv.ch, Paquier, Célia⁵ (AUTHOR) c.paquier@physioss.ch, Tanniger, Joëlle⁵ (AUTHOR) joelle.tanniger@chuv.ch, Faouzi, Mohamed⁶ (AUTHOR) mohamed.faouzi@unisante.ch, Lazor, Romain^7,8 (AUTHOR) romain.lazor@chuv.ch

المصدر: Orphanet Journal of Rare Diseases. 12/4/2024, Vol. 19 Issue 1, p1-12. 12p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *NATURAL history, *LUNG diseases, *GENETIC disorders, *BONE diseases

المؤلفون: Ning, Haiping¹ (AUTHOR), Liang, Cuili² (AUTHOR), Mei, Huifen² (AUTHOR), Yuan, Dejian³ (AUTHOR), Wei, Xiaobao³ (AUTHOR), Huang, Xiao¹ (AUTHOR), Tan, Dongdong¹ (AUTHOR), Tan, Jianqiang¹ (AUTHOR) tjq198103@163.com

المصدر: Clinical Genetics. Dec2024, p1. 7p. 3 Illustrations.

مصطلحات موضوعية: *HEREDITY, *OSTEOGENESIS imperfecta, *CHINESE people, *MISSENSE mutation, *GENETIC variation

المؤلفون: Mangiantini, Pietro (AUTHOR), Mallone, Fabiana (AUTHOR), D'Andrea, Mattia (AUTHOR), Albanesi, Lorenzo (AUTHOR), Lucchino, Luca (AUTHOR), Celli, Luca (AUTHOR), Celli, Mauro (AUTHOR), Lambiase, Alessandro (AUTHOR), Moramarco, Antonietta (AUTHOR)

المصدر: Clinical Ophthalmology. Dec2024, Vol. 18, p3977-3988. 12p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *NERVE fibers, *DENDRITIC cells, *CONFOCAL microscopy, *CORNEA

المؤلفون: Bizot, Pascal¹ (AUTHOR) pascal.bizot@aphp.fr

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p976-988. 13p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *ORTHOPEDIC surgery, *CHRONIC pain, *OPERATIVE surgery, *GENETIC disorders

المؤلفون: Masiero, Cecilia¹ (AUTHOR), Aresi, Carla¹ (AUTHOR), Forlino, Antonella¹ (AUTHOR) antonella.forlino@unipv.it, Tonelli, Francesca¹ (AUTHOR)

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p931-959. 29p.

مصطلحات موضوعية: *DRUG discovery, *OSTEOGENESIS imperfecta, *HEART valves, *PULMONARY valve, *MUSCLE weakness

المؤلفون: Marulanda, Juliana¹ (AUTHOR), Retrouvey, Jean-Marc² (AUTHOR), Rauch, Frank¹ (AUTHOR) frank.rauch@mcgill.ca

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p923-930. 8p.

مصطلحات موضوعية: *CRANIOFACIAL abnormalities, *OSTEOGENESIS imperfecta, *SHORT stature, *MUSCLE weakness, *CONNECTIVE tissues

المؤلفون: Jovanovic, Milena^1,2 (AUTHOR), Marini, Joan C.¹ (AUTHOR) oidoc@helix.nih.gov

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p891-914. 24p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *SKELETAL dysplasia, *CYTOLOGY, *CONNECTIVE tissues, *GENETICS, *DYSPLASIA

المؤلفون: Misof, Barbara M.^1,2 (AUTHOR), Fratzl-Zelman, Nadja^1,2 (AUTHOR) nadja.fratzl-zelman@osteologie.lbg.ac.at

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p777-804. 28p.

مصطلحات موضوعية: *DUAL-energy X-ray absorptiometry, *OSTEOGENESIS imperfecta, *BONE density, *BONE remodeling, *WATER purification, *DYSPLASIA

المؤلفون: Hald, Jannie Dahl^1,2 (AUTHOR) jannie.hald@midt.rm.dk, Langdahl, Bente^1,3 (AUTHOR), Folkestad, Lars^4,5 (AUTHOR), Wekre, Lena Lande⁶ (AUTHOR), Johnson, Riley⁷ (AUTHOR), Nagamani, Sandesh C. S.^8,9 (AUTHOR), Raggio, Cathleen¹⁰ (AUTHOR), Ralston, Stuart H.¹¹ (AUTHOR), Semler, Oliver¹² (AUTHOR), Tosi, Laura¹³ (AUTHOR), Orwoll, Eric⁷ (AUTHOR)

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p863-872. 10p.

مصطلحات موضوعية: *QUALITY of life, *OSTEOGENESIS imperfecta, *CARDIOPULMONARY system, *GASTROINTESTINAL system, *POST-translational modification

المؤلفون: Crawford, Tara K.¹ (AUTHOR), Lafaver, Brittany N.¹ (AUTHOR), Phillips, Charlotte L.² (AUTHOR) phillipscl@missouri.edu

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p847-862. 16p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *BONE density, *CONNECTIVE tissues, *POST-translational modification, *SHORT stature

المؤلفون: Hill, Claire L¹ (AUTHOR) claire.hill28@nhs.net, Ford, Davina¹ (AUTHOR), Baker, Jill¹ (AUTHOR)

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p828-846. 19p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *QUALITY of life, *MEDICAL personnel, *BASILAR invagination, *SHORT stature

المؤلفون: Sillence, David Owen^1,2 (AUTHOR) david.sillence@sydney.edu.au

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p873-890. 18p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *SKELETAL dysplasia, *MEDICAL scientists, *GENETIC disorders, *NOSOLOGY

المؤلفون: Arundel, Paul¹ (AUTHOR), Bishop, Nick² (AUTHOR) n.j.bishop@sheffield.ac.uk

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p812-827. 16p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *STEM cell treatment, *MESENCHYMAL stem cells, *TREATMENT of fractures, *CLINICAL trials

المؤلفون: Liu, Winnie¹ (AUTHOR) lwin@ohsu.edu, Nicol, Lindsey² (AUTHOR), Orwoll, Eric³ (AUTHOR)

المصدر: Calcified Tissue International. Dec2024, Vol. 115 Issue 6, p805-811. 7p.

مصطلحات موضوعية: *OSTEOGENESIS imperfecta, *BONE density, *BONE diseases, *STEM cell treatment, *GENETIC disorders

المؤلفون: Yang, Hongjiang¹ (AUTHOR), Zhu, Wenbiao¹ (AUTHOR), Li, Bo¹ (AUTHOR), Wang, Hao² (AUTHOR), Xing, Cong¹ (AUTHOR), Xiong, Yang¹ (AUTHOR), Ren, Xiuzhi³ (AUTHOR) renxiuzhi7320@suda.edu.cn, Ning, Guangzhi¹ (AUTHOR) gzning@tmu.edu.cn

المصدر: Orphanet Journal of Rare Diseases. 11/9/2024, Vol. 19 Issue 1, p1-11. 11p.

مصطلحات موضوعية: *ARTIFICIAL neural networks, *OSTEOGENESIS imperfecta, *LEARNING curve, *FEATURE selection, *MACHINE learning

المؤلفون: Mengxiao Ma¹, Dubey, Ramin¹, Jen, Annie², Pusapati, Ganesh V.¹, Singal, Bharti³, Shishkova, Evgeni^4,5, Overmyer, Katherine A^6,7, Cormier-Daire, Valérie⁸, Fedry, Juliette⁹, Aravind, L.¹⁰, Coon, Joshua J.^2,5,11,12, Rohatgi, Rajat¹ rrohatgi@stanford.edu

المصدر: Science. 11/8/2024, Vol. 386 Issue 6722, p667-672. 6p. 4 Diagrams.

مصطلحات موضوعية: *CELL receptors, *OSTEOGENESIS imperfecta, *PEPTIDES, *ENDOPLASMIC reticulum, *MOLECULAR chaperones