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Van der Hoeve's syndrome相关文献:
Current Overview of Osteogenesis Imperfecta.
Deguchi M, Tsuji S, Katsura D, Kasahara K, Kimura F, Murakami T.
Medicina (Kaunas). 2021 May 10;57(5):464. doi: 10.3390/medicina57050464.
PMID:34068551
Osteogenesis imperfecta: an update on clinical features and therapies.
Marom R, Rabenhorst BM, Morello R.
Eur J Endocrinol. 2020 Oct;183(4):R95-R106. doi: 10.1530/EJE-20-0299.
PMID:32621590
Osteogenesis imperfecta: advancements in genetics and treatment.
Rossi V, Lee B, Marom R.
Curr Opin Pediatr. 2019 Dec;31(6):708-715. doi: 10.1097/MOP.0000000000000813.
PMID:31693577
Osteogenesis imperfecta.
Rauch F, Glorieux FH.
Lancet. 2004 Apr 24;363(9418):1377-85. doi: 10.1016/S0140-6736(04)16051-0.
PMID:15110498
Osteogenesis Imperfecta: Current and Prospective Therapies.
Botor M, Fus-Kujawa A, Uroczynska M, Stepien KL, Galicka A, Gawron K, Sieron AL.
Biomolecules. 2021 Oct 10;11(10):1493. doi: 10.3390/biom11101493.
PMID:34680126
Osteogenesis imperfecta: diagnosis and treatment.
Palomo T, Vilaça T, Lazaretti-Castro M.
Curr Opin Endocrinol Diabetes Obes. 2017 Dec;24(6):381-388. doi: 10.1097/MED.0000000000000367.
PMID:28863000
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
Van Dijk FS, Sillence DO.
Am J Med Genet A. 2014 Jun;164A(6):1470-81. doi: 10.1002/ajmg.a.36545. Epub 2014 Apr 8.
PMID:24715559
Identification of a family with van der Hoeve's syndrome harboring a novel COL1A1 mutation and generation of patient-derived iPSC lines and CRISPR/Cas9-corrected isogenic iPSCs.
Li S, Mei L, He C, Cai X, Wu H, Wu X, Liu Y, Feng Y, Song J.
Hum Cell. 2024 May;37(3):817-831. doi: 10.1007/s13577-024-01028-3. Epub 2024 Feb 20.
PMID:38379122
Algodystrophy in conjunction with van der Hoeve's syndrome.
Chérié-Lignière G, Tamborini U, Grosso P.
Clin Exp Rheumatol. 1995 May-Jun;13(3):361-5.
PMID:7554566
Setrusumab for the treatment of osteogenesis imperfecta: 12-month results from the phase 2b asteroid study.
Glorieux FH, Langdahl B, Chapurlat R, De Beur SJ, Sutton VR, Poole KES, Dahir KM, Orwoll ES, Willie BM, Mikolajewicz N, Zimmermann E, Hosseinitabatabaei S, Ominsky MS, Saville C, Clancy J, MacKinnon A, Mistry A, Javaid MK.
J Bone Miner Res. 2024 Sep 2;39(9):1215-1228. doi: 10.1093/jbmr/zjae112.
PMID:39012717
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