Research & Literature

Radiology of Osteogenesis Imperfecta, Rickets and Other Bony Fragility States.

Calder AD

Endocrine development 2015; (28()):56-71 doi:10.1159/000380992.

Classification of osteogenesis imperfecta.

Fratzl-Zelman N, Misof BM, Roschger P, Klaushofer K

Wiener medizinische Wochenschrift (1946) 2015; (165(13-14)):264-70 doi:10.1007/s10354-015-0368-3.

Pregnancy outcomes in women with osteogenesis imperfecta.

Yimgang DP, Shapiro JR

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2016; (29(14)):2358-62 doi:10.3109/14767058.2015.1085965.

Recent developments in osteogenesis imperfecta.

Shaker JL, Albert C, Fritz J, Harris G

F1000Research 2015; (4(F1000 Faculty Rev)):681 doi:10.12688/f1000research.6398.1.

Prevalence of Cardiovascular Disease and Cardiac Symptoms: Left and Right Ventricular Function in Adults With Osteogenesis Imperfecta.

Radunovic Z, Steine K

The Canadian journal of cardiology 2015; (31(11)):1386-92.

Genetic differentials of child abuse: Is your case rare or real?

Shur N, Carey JC

American journal of medical genetics. Part C, Seminars in medical genetics 2015; (169(4)):281-8 doi:10.1002/ajmg.c.31464.

What every clinical geneticist should know about testing for osteogenesis imperfecta in suspected child abuse cases.

Pepin MG, Byers PH

American journal of medical genetics. Part C, Seminars in medical genetics 2015; (169(4)):307-13 doi:10.1002/ajmg.c.31459.

Developmental Stage-dependent Regulation of Prolyl 3-Hydroxylation in Tendon Type I Collagen.

Taga Y, Kusubata M, Ogawa-Goto K, Hattori S

The Journal of biological chemistry 2016; (291(2)):837-47 doi:10.1074/jbc.M115.686105.

Initial report of the osteogenesis imperfecta adult natural history initiative.

Tosi LL, Oetgen ME, Floor MK, et al.

Orphanet journal of rare diseases 2015; (10()):146 doi:10.1186/s13023-015-0362-2.

Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.

Brizola E, Mattos EP, Ferrari J, et al.

Molecular syndromology 2015; (6(4)):164-72 doi:10.1159/000439506.

Evidence for a Role for Nanoporosity and Pyridinoline Content in Human Mild Osteogenesis Imperfecta.

Paschalis EP, Gamsjaeger S, Fratzl-Zelman N, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2016; (31(5)):1050-9 doi:10.1002/jbmr.2780.

Management of osteogenesis imperfecta type I in pregnancy; a review of literature applied to clinical practice.

Cozzolino M, Perelli F, Maggio L, et al.

Archives of gynecology and obstetrics 2016; (293(6)):1153-9 doi:10.1007/s00404-016-4012-2.

Synthetic, Register-Specific, AAB Heterotrimers to Investigate Single Point Glycine Mutations in Osteogenesis Imperfecta.

Acevedo-Jake AM, Clements KA, Hartgerink JD

Biomacromolecules 2016; (17(3)):914-21 doi:10.1021/acs.biomac.5b01562.

Functional Outcome of Humeral Rodding in Children With Osteogenesis Imperfecta.

Ashby E, Montpetit K, Hamdy RC, Fassier F

Journal of pediatric orthopedics 2018; (38(1)):49-53 doi:10.1097/BPO.0000000000000729.

Eight mutations including 5 novel ones in the COL1A1 gene in Czech patients with osteogenesis imperfecta.

Hruskova L, Fijalkowski I, Van Hul W, et al.

Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia 2016; (160(3)):442-7 doi:10.5507/bp.2016.022.

DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.

Bardai G, Moffatt P, Glorieux FH, Rauch F

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2016; (27(12)):3607-3613 doi:10.1007/s00198-016-3709-1.

Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.

Liu Y, Asan , Ma D, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2017; (28(10)):2985-2995 doi:10.1007/s00198-017-4143-8.

Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene.

Usta A, Karademir D, Sen E, et al.

The Pan African medical journal 2017; (27()):198 doi:10.11604/pamj.2017.27.198.12295.

Insight into the Pathology of a COL1A1 Signal Peptide Heterozygous Mutation Leading to Severe Osteogenesis Imperfecta.

Lindert U, Gnoli M, Maioli M, et al.

Calcified tissue international 2018; (102(3)):373-379 doi:10.1007/s00223-017-0359-z.

[Genetic mutation and clinical features of osteogenesis imperfecta type V].

Guan S, Bai X, Wang Y, et al.

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2017; (34(6)):797-801 doi:10.3760/cma.j.issn.1003-9406.2017.06.003.

Interferon-Induced Transmembrane Protein 5 Mutation Causing Type-V Osteogenesis Imperfecta: A Case Report.

Mathew SE, Santhanam M, Madhuri V

JBJS case connector 2015; (5(1)):e15 doi:10.2106/JBJS.CC.N.00122.

Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults.

Hald JD, Folkestad L, Swan CZ, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2018; (29(12)):2781-2789 doi:10.1007/s00198-018-4663-x.

Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community.

Swezey T, Reeve BB, Hart TS, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2019; (30(2)):507-511 doi:10.1007/s00198-018-4690-7.

Oral health-related quality of life in children and adolescents with osteogenesis imperfecta: cross-sectional study.

Najirad M, Ma MS, Rauch F, et al.

Orphanet journal of rare diseases 2018; (13(1)):187 doi:10.1186/s13023-018-0935-y.

Health-related quality of life in children with osteogenesis imperfecta: a large-sample study.

Song Y, Zhao D, Li L, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2019; (30(2)):461-468 doi:10.1007/s00198-018-4801-5.

Endoplasmic reticulum stress is induced in growth plate hypertrophic chondrocytes in G610C mouse model of osteogenesis imperfecta.

Scheiber AL, Guess AJ, Kaito T, et al.

Biochemical and biophysical research communications 2019; (509(1)):235-240 doi:10.1016/j.bbrc.2018.12.111.

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.

Retrouvey JM, Taqi D, Tamimi F, et al.

European journal of medical genetics 2019; (62(12)):103606 doi:10.1016/j.ejmg.2018.12.011.

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta.

Guillemyn B, Kayserili H, Demuynck L, et al.

Human molecular genetics 2019; (28(11)):1801-1809 doi:10.1093/hmg/ddz017.

Beware of Osteogenesis Imperfecta: Subdural Hematoma in a 10-Year-Old Child With Minor Head Trauma.

Dinca EB, Carron R

The Journal of nervous and mental disease 2019; (207(7)):575-576 doi:10.1097/NMD.0000000000001009.

Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta.

Ju M, Bai X, Zhang T, et al.

Journal of bone and mineral metabolism 2020; (38(2)):188-197 doi:10.1007/s00774-019-01039-3.

Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta.

Matsushita M, Mishima K, Yamashita S, et al.

Journal of bone and mineral metabolism 2020; (38(1)):109-116 doi:10.1007/s00774-019-01033-9.

Fatigue in adults with Osteogenesis Imperfecta.

Harsevoort AGJ, Gooijer K, van Dijk FS, et al.

BMC musculoskeletal disorders 2020; (21(1)):6 doi:10.1186/s12891-019-3000-7.

Osteogenesis imperfecta in a male holstein calf associated with a possible oligogenic origin.

Zhang X, Hirschfeld M, Beck J, et al.

The veterinary quarterly 2020; (40(1)):58-67 doi:10.1080/01652176.2020.1721611.

[Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang].

Luo YF, Dilihuma J, Sun GH, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2020; (58(2)):135-139 doi:10.3760/cma.j.issn.0578-1310.2020.02.013.

Spontaneous extracranial arterial dissections in a case of patient with osteogenesis imperfecta.

Tang X, Jian J, Luo Y, et al.

The International journal of neuroscience 2021; (131(3)):312-316 doi:10.1080/00207454.2020.1739674.

Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta.

Zhytnik L, Maasalu K, Reimand T, et al.

Clinical and translational science 2020; (13(5)):960-971 doi:10.1111/cts.12783.

Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype.

Tonelli F, Cotti S, Leoni L, et al.

Matrix biology : journal of the International Society for Matrix Biology 2020; (90()):40-60 doi:10.1016/j.matbio.2020.03.004.

Homozygous Loss-of-Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta.

Dubail J, Brunelle P, Baujat G, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2020; (35(8)):1470-1480 doi:10.1002/jbmr.4011.

Pharmacotherapy in Rare Skeletal Diseases.

Hoyer-Kuhn H, Schönau E

Handbook of experimental pharmacology 2020; (261()):87-104 doi:10.1007/164_2019_305.

Osteogenesis imperfecta: an update on clinical features and therapies.

Marom R, Rabenhorst BM, Morello R

European journal of endocrinology 2020; (183(4)):R95-R106.

Diagnosis and management of pediatric metabolic bone diseases associated with skeletal fragility.

Charoenngam N, Cevik MB, Holick MF

Current opinion in pediatrics 2020; (32(4)):560-573 doi:10.1097/MOP.0000000000000914.

Treatment response to long term antiresorptive therapy in osteogenesis imperfecta type VI: does genotype matter?

Celik NB, Gonc N, Ozon A, et al.

Journal of pediatric endocrinology & metabolism : JPEM 2020; (33(12)):1617-1624 doi:10.1515/jpem-2020-0260.

Human dentin characteristics of patients with osteogenesis imperfecta: insights into collagen-based biomaterials.

Pragnère S, Auregan JC, Bosser C, et al.

Acta biomaterialia 2021; (119()):259-267 doi:10.1016/j.actbio.2020.10.033.

Fragile and Brittle Bone Disease or Osteogenesis Imperfecta: A Case Report.

Krishnamurthy NH, Chikkanarasaiah N, Nanjappa A, Vathariparambath N

International journal of clinical pediatric dentistry 2020; (13(4)):425-428 doi:10.5005/jp-journals-10005-1792.

4-Phenylbutyric acid enhances the mineralization of osteogenesis imperfecta iPSC-derived osteoblasts.

Takeyari S, Kubota T, Ohata Y, et al.

The Journal of biological chemistry 2021; (296()):100027 doi:10.1074/jbc.RA120.014709.

Management of primary and secondary osteoporosis in children.

Sakka SD, Cheung MS

Therapeutic advances in musculoskeletal disease 2020; (12()):1759720X20969262 doi:10.1177/1759720X20969262.

[Rehabilitation of orphan diseases in adulthood: osteogenesis imperfecta].

Gehlen M, Schwarz-Eywill M, Hinz C, et al.

Zeitschrift fur Rheumatologie 2021; (80(1)):29-42 doi:10.1007/s00393-020-00927-8.

Telescopic rodding in children: Technical progression from Dubow-Bailey to Fassier-Duval™.

Fassier A

Orthopaedics & traumatology, surgery & research : OTSR 2021; (107(1S)):102759 doi:10.1016/j.otsr.2020.102759.

Osteoblasts mineralization and collagen matrix are conserved upon specific Col1a2 silencing.

Maruelli S, Besio R, Rousseau J, et al.

Matrix biology plus 2020; (6-7()):100028 doi:10.1016/j.mbplus.2020.100028.

Osteogenesis Imperfecta and Child Abuse From a Forensic Point of View.

Altalib A, Althomali A, Alshahrani A, et al.

Cureus 2021; (13(1)):e12790 doi:10.7759/cureus.12790.

A standard set of outcome measures for the comprehensive assessment of osteogenesis imperfecta.

Nijhuis W, Franken A, Ayers K, et al.

Orphanet journal of rare diseases 2021; (16(1)):140 doi:10.1186/s13023-021-01682-y.

Physiological Loading-Induced Interstitial Fluid Dynamics in Osteon of Osteogenesis Imperfecta Bone.

Shrivas NV, Tiwari AK, Kumar R, et al.

Journal of biomechanical engineering 2021; (143(8)) doi:10.1115/1.4050818.

Observed Frequency and Characteristics of Hearing Loss in Osteogenesis Imperfecta.

Waissbluth S, Lira K, Aracena K, et al.

Revista medica de Chile 2020; (148(12)):1781-1786 doi:10.4067/S0034-98872020001201781.

Osteogenesis Imperfecta: Mechanisms and Signaling Pathways Connecting Classical and Rare OI Types.

Jovanovic M, Guterman-Ram G, Marini JC

Endocrine reviews 2022; (43(1)):61-90 doi:10.1210/endrev/bnab017.

Current Overview of Osteogenesis Imperfecta.

Deguchi M, Tsuji S, Katsura D, et al.

Medicina (Kaunas, Lithuania) 2021; (57(5)) doi:10.3390/medicina57050464.

Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history.

Harrington J, AlSubaihin A, Dupuis L, et al.

Archives of osteoporosis 2021; (16(1)):88 doi:10.1007/s11657-021-00943-4.

Intraoperative Hardware Failure of the Fassier-Duval Rescue System in a Pediatric Patient with Osteogenesis Imperfecta.

Kahan ME, Angerett NR, Flanagan JC

Case reports in pediatrics 2021; (2021()):9982289 doi:10.1155/2021/9982289.

A roadmap to surgery in osteogenesis imperfecta: results of an international collaboration of patient organizations and interdisciplinary care teams.

Sakkers RJ, Montpetit K, Tsimicalis A, et al.

Acta orthopaedica 2021; (92(5)):608-614 doi:10.1080/17453674.2021.1941628.

Novel Mutations Within Collagen Alpha1(I) and Alpha2(I) Ligand-Binding Sites, Broadening the Spectrum of Osteogenesis Imperfecta - Current Insights Into Collagen Type I Lethal Regions.

Sałacińska K, Pinkier I, Rutkowska L, et al.

Frontiers in genetics 2021; (12()):692978 doi:10.3389/fgene.2021.692978.

Osteogenesis Imperfecta and hearing loss in the paediatric population.

Joseph JK, Maharaj SH

International journal of pediatric otorhinolaryngology 2021; (150()):110914 doi:10.1016/j.ijporl.2021.110914.

Type-I collagen produced by distinct fibroblast lineages reveals specific function during embryogenesis and Osteogenesis Imperfecta.

Chen Y, Yang S, Lovisa S, et al.

Nature communications 2021; (12(1)):7199 doi:10.1038/s41467-021-27563-3.

Standardizing genetic and metabolic consults for non-accidental trauma at a large pediatric academic center.

Hildebrandt C, Wilson CR, Kritzer A

Child abuse & neglect 2022; (125()):105480 doi:10.1016/j.chiabu.2021.105480.

Complications of Elongating Intramedullary Rods in the Treatment of Lower Extremity Fractures for Osteogenesis Imperfecta: A Meta-Analysis of 594 Patients in 40 Years.

Yong B, De Wouters S, Howard A

Journal of pediatric orthopedics 2022; (42(3)):e301-e308 doi:10.1097/BPO.0000000000002040.

Metaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature.

Bobyn A, Jetha M, Frohlich B, et al.

Bone reports 2022; (16()):101171 doi:10.1016/j.bonr.2022.101171.

Curative Cell and Gene Therapy for Osteogenesis Imperfecta.

Schindeler A, Lee LR, O'Donohue AK, et al.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2022; (37(5)):826-836 doi:10.1002/jbmr.4549.

Understanding Musculoskeletal Disorders Through Next-Generation Sequencing.

Garg B, Tomar N, Biswas A, et al.

JBJS reviews 2022; (10(4)) doi:10.2106/JBJS.RVW.21.00165.

Osteogenesis Imperfecta/Ehlers-Danlos Overlap Syndrome and Neuroblastoma-Case Report and Review of Literature.

Morabito LA, Allegri AEM, Capra AP, et al.

Genes 2022; (13(4)) doi:10.3390/genes13040581.

Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.

Tan W, Ji Y, Qian Y, et al.

Journal of immunology research 2022; (2022()):5068523 doi:10.1155/2022/5068523.

Biomechanical, Microstructural and Material Properties of Tendon and Bone in the Young Oim Mice Model of Osteogenesis Imperfecta.

Chretien A, Couchot M, Mabilleau G, Behets C

International journal of molecular sciences 2022; (23(17)) doi:10.3390/ijms23179928.

Safety and Efficacy of Zoledronic Acid in children with Osteogenesis Imperfecta.

Riaz M, Hafeez S, Ibrahim MN, et al.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP 2022; (32(9)):1165-1169 doi:10.29271/jcpsp.2022.09.1165.

Retrospective analyses of clinical features in 28 Chinese patients with type V osteogenesis imperfecta: new perspectives in an old issue.

Tan Z, Shek HT, Dong Z, et al.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA 2023; (34(2)):369-377 doi:10.1007/s00198-022-06581-x.

Osteogenesis imperfecta/ Ehlers-Danlos overlap syndrome (COL1-related disorder) and pregnancy.

Šinská Alexandra, Hostinská Eliška, Pilka Radovan

Ceska gynekologie 2022; (87(6)):396-400 doi:10.48095/cccg2022396.

Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.

Liu W, Lee B, Nagamani SCS, et al.

The Journal of clinical endocrinology and metabolism 2023; (108(7)):1787-1796 doi:10.1210/clinem/dgad035.

Systematic review of health related-quality of life in adults with osteogenesis imperfecta.

Mc Donald D, Mc Donnell T, Martin-Grace J, et al.

Orphanet journal of rare diseases 2023; (18(1)):36 doi:10.1186/s13023-023-02643-3.

From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.

Storoni S, Verdonk SJE, Zhytnik L, et al.

Biomolecules 2023; (13(2)) doi:10.3390/biom13020281.

Effect of physiotherapy rehabilitation on osteogenesis imperfecta with a midshaft tibial fracture in the 11-year-old patient: a case report.

Nangliya RM, Jain DS, Saklecha AV, Patil DS

The Pan African medical journal 2022; (43()):201 doi:10.11604/pamj.2022.43.201.34702.

A Fracture From a Physical Exam: A Case Report of Osteogenesis Imperfecta and the Use of Fassier-Duval Rods.

Rella RT, Brandon AS, Garrison IA, et al.

Cureus 2023; (15(4)):e37068 doi:10.7759/cureus.37068.

Efficacy and safety of intravenous Zolidronic acid in the treatment of pediatric osteogenesis imperfecta: a systematic review.

Mahmoud I, Bouden S, Sahli M, et al.

Journal of pediatric orthopedics. Part B 2024; (33(3)):283-289 doi:10.1097/BPB.0000000000001104.

Combination of osteogenesis imperfecta and hypophosphatasia in three children with multiple fractures, low bone mass and severe osteomalacia, a challenge for therapeutic management.

Fratzl-Zelman N, Linglart A, Bin K, et al.

European journal of medical genetics 2023; (66(11)):104856 doi:10.1016/j.ejmg.2023.104856.

Atypical cell death and insufficient matrix organization in long-bone growth plates from Tric-b-knockout mice.

Ichimura A, Miyazaki Y, Nagatomo H, et al.

Cell death & disease 2023; (14(12)):848 doi:10.1038/s41419-023-06285-y.

Imaging in osteogenesis imperfecta: Where we are and where we are going.

Gazzotti S, Sassi R, Aparisi Gómez MP, et al.

European journal of medical genetics 2024; (68()):104926 doi:10.1016/j.ejmg.2024.104926.

Influence of zoledronic acid and pamidronate on tooth eruption in children with osteogenesis imperfecta.

Del Rio Cantero N, Mourelle Martínez MR, Sagastizabal Cardelús B, De Nova García JM

Bone 2024; (182()):117069 doi:10.1016/j.bone.2024.117069.

Current and Developing Pharmacologic Agents for Improving Skeletal Health in Adults with Osteogenesis Imperfecta.

Liu W, Nicol L, Orwoll E

Calcified tissue international 2024; (115(6)):805-811 doi:10.1007/s00223-024-01188-2.

Extra-Skeletal Manifestations in Osteogenesis Imperfecta Mouse Models.

Crawford TK, Lafaver BN, Phillips CL

Calcified tissue international 2024; (115(6)):847-862 doi:10.1007/s00223-024-01213-4.

Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and their Genotype-phenotype Correlation

Özen S, Gökşen D, Evin F, et al.

Journal of clinical research in pediatric endocrinology 2024; (16(4)):431-442 doi:10.4274/jcrpe.galenos.2024.2022-12-8.

Osteogenesis Imperfecta: Skeletal and Non-skeletal Challenges in Adulthood.

Hald JD, Langdahl B, Folkestad L, et al.

Calcified tissue international 2024; (115(6)):863-872 doi:10.1007/s00223-024-01236-x.

Current situation of osteogenesis imperfecta in Spain: results from a Delphi study.

Sagastizabal B, Calvo I, Martínez-Ferrer À, et al.

Orphanet journal of rare diseases 2024; (19(1)):239 doi:10.1186/s13023-024-03248-0.

Osteogenesis Imperfecta Type II: The Lethal Newborn Form Diagnosed in the Postnatal Period.

Elhaddadi H, Ayyad A, Messaoudi S, Amrani R

Cureus 2024; (16(5)):e60945 doi:10.7759/cureus.60945.

A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.

Sillence DO

Calcified tissue international 2024; (115(6)):873-890 doi:10.1007/s00223-024-01248-7.

Pregnancy complications and birth outcome in patients with osteogenesis imperfecta - A population-based register study.

Lykking EK, Damkier P, Kammerlander H, et al.

Bone 2024; (187()):117202 doi:10.1016/j.bone.2024.117202.

Hearing impairment amongst people with Osteogenesis Imperfecta in Germany.

Felicio-Briegel A, Müller J, Pollotzek M, et al.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2025; (282(2)):765-771 doi:10.1007/s00405-024-08983-5.

Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta.

Batkovskyte D, Swolin-Eide D, Hammarsjö A, et al.

American journal of medical genetics. Part A 2025; (197(3)):e63935 doi:10.1002/ajmg.a.63935.

Adapting to Adulthood: A Review of Transition Strategies for Osteogenesis Imperfecta.

Celli L, Garrelfs MR, Sakkers RJB, et al.

Calcified tissue international 2024; (115(6)):960-975 doi:10.1007/s00223-024-01305-1.

Postpartum multiple vertebral fractures in a patient with osteogenesis imperfecta type I: A case report and literature review.

Miyazaki Y, Hosokawa M, Kudo S, et al.

Case reports in women's health 2024; (44()):e00666 doi:10.1016/j.crwh.2024.e00666.

Anesthetic management in pregnancy with osteogenesis imperfecta type XI: A comprehensive case report.

Punnaniti K, Sangkum L, Termpornlert S, et al.

International journal of surgery case reports 2025; (127()):110971 doi:10.1016/j.ijscr.2025.110971.

Cardiac health, type I collagen, and aging in the oim/oim mouse model of osteogenesis imperfecta and a cohort of adults with OI.

Lafaver BN, Lee L, Derocher CE, et al.

American journal of physiology. Heart and circulatory physiology 2025; (328(3)):H565-H580 doi:10.1152/ajpheart.00535.2024.

Comprehensive Review of Osteogenesis Imperfecta: Current Treatments and Future Innovations.

Chaugule S, Constantinou CK, John AA, et al.

Human gene therapy 2025; (36(5-6)):597-617 doi:10.1089/hum.2024.191.

Optimizing bone health with bisphosphonate therapies in pediatric osteogenesis imperfecta: a network meta-analysis of randomized trials.

Wang YY, Su YC, Lai PC, et al.

Archives of osteoporosis 2025; (20(1)):33 doi:10.1007/s11657-025-01515-6.

Plates for the treatment of long bone metaphyseal and diaphyseal fracture and deformity in osteogenesis imperfecta: A scoping review.

Louni Y, Hamdy R

Journal of children's orthopaedics 2025; (19(3)):199-206 doi:10.1177/18632521251332498.

Osteogenesis imperfecta: exploring an autoimmune and immunotherapy perspective.

Goddard JF, Mehrotra S, Mehrotra M

JBMR plus 2025; (9(6)):ziaf053 doi:10.1093/jbmrpl/ziaf053.

Enhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta.

Montagna G, Lee S, Baacke A, et al.

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.05.27.656429.

An observational study of the prevalence of classic metaphyseal fractures in children with osteogenesis imperfecta in the first two years of life.

Riley E, Elgarwany S, Arundel P, et al.

Clinical radiology 2025; (87()):106964 doi:10.1016/j.crad.2025.106964.

A Systematic Review on the Efficacy of Bisphosphonates on Osteogenesis Imperfecta.

Datir RR, Datir RR, Datir PR, Heyrani N

Cureus 2025; (17(6)):e86549 doi:10.7759/cureus.86549.

Rickets.

Narasimhan S, Lavik A, Auron M

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