Lenoir A, Aubry-Rozier B, Bregou A, Rodriguez E, Paquier C, Tanniger J
Orphanet J Rare Dis. 2024; 19(1):455.
PMID: 39627862
PMC: 11616175.
DOI: 10.1186/s13023-024-03452-y.
Dimori M, Toulany M, Sultana L, Onal M, Thostenson J, Carroll J
J Bone Miner Res. 2024; 40(1):114-124.
PMID: 39566076
PMC: 11700621.
DOI: 10.1093/jbmr/zjae189.
Park S, Yoon H, Yoon S, Chung J, Kim J, Lee S
Calcif Tissue Int. 2024; 115(6):915-922.
PMID: 39150494
DOI: 10.1007/s00223-024-01274-5.
Blokland L, Arponen H, Ahmad A, Colijn S, Gjorup H, John R
Orphanet J Rare Dis. 2024; 19(1):294.
PMID: 39138478
PMC: 11320983.
DOI: 10.1186/s13023-024-03308-5.
Tan Z, Chen P, Zhang J, Shek H, Li Z, Zhou X
J Bone Miner Res. 2024; 39(9):1253-1267.
PMID: 39126373
PMC: 11371906.
DOI: 10.1093/jbmr/zjae123.
A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.
Sillence D
Calcif Tissue Int. 2024; 115(6):873-890.
PMID: 38942908
PMC: 11607092.
DOI: 10.1007/s00223-024-01248-7.
Unraveling the Link of Altered TGFβ Signaling with Scoliotic Vertebral Malformations in Osteogenesis Imperfecta: A Comprehensive Review.
Kaspiris A, Vasiliadis E, Tsalimas G, Melissaridou D, Lianou I, Panagopoulos F
J Clin Med. 2024; 13(12).
PMID: 38930011
PMC: 11204596.
DOI: 10.3390/jcm13123484.
Metabolic Bone Diseases Affecting Tooth Eruption: A Narrative Review.
Papadopoulou C, Sifakakis I, Tournis S
Children (Basel). 2024; 11(6).
PMID: 38929327
PMC: 11202066.
DOI: 10.3390/children11060748.
A Retrospective Study of the Presentation, Diagnosis, Management, and Outcomes of 27 Patients with Osteogenesis Imperfecta at a Single Center in Türkiye.
Gokmen M, Mirioglu A, Kundakci B, Boga I, Bicer O
Med Sci Monit. 2024; 30:e944364.
PMID: 38807347
PMC: 11469422.
DOI: 10.12659/MSM.944364.
The IMPACT survey: a mixed methods study to understand the experience of children, adolescents and adults with osteogenesis imperfecta and their caregivers.
Westerheim I, Hart T, van Welzenis T, Wekre L, Semler O, Raggio C
Orphanet J Rare Dis. 2024; 19(1):128.
PMID: 38515144
PMC: 10956293.
DOI: 10.1186/s13023-024-03126-9.
Bronchial obstruction in osteogenesis imperfecta can be detected by forced oscillation technique.
Storoni S, Verdonk S, Micha D, Jak P, Bugiani M, Eekhoff E
Front Med (Lausanne). 2024; 10:1301873.
PMID: 38179272
PMC: 10764585.
DOI: 10.3389/fmed.2023.1301873.
The recombinant BMP-2 loaded silk fibroin microspheres improved the bone phenotype of mild osteogenesis imperfecta mice.
Fu T, Liu Y, Wang Z, Jing Y, Zhao Y, Shao C
PeerJ. 2023; 11:e16191.
PMID: 37927786
PMC: 10621593.
DOI: 10.7717/peerj.16191.
Scoliosis in osteogenesis imperfecta: identifying the genetic and non-genetic factors affecting severity and progression from longitudinal data of 290 patients.
Chen P, Zhou Y, Tan Z, Lin Y, Lin D, Wu J
Orphanet J Rare Dis. 2023; 18(1):295.
PMID: 37730650
PMC: 10510243.
DOI: 10.1186/s13023-023-02906-z.
The patient-related factors in revision procedures on tibia of patients with osteogenesis imperfecta treated with the Peter-Williams nail.
Zhu W, Xiong Y, Li B, Yang H, Xing C, Ren X
J Orthop Surg Res. 2023; 18(1):532.
PMID: 37496046
PMC: 10373316.
DOI: 10.1186/s13018-023-03952-w.
From Genetics to Clinical Implications: A Study of 675 Dutch Osteogenesis Imperfecta Patients.
Storoni S, Verdonk S, Zhytnik L, Pals G, Treurniet S, Elting M
Biomolecules. 2023; 13(2).
PMID: 36830650
PMC: 9953243.
DOI: 10.3390/biom13020281.
Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira C, Mortier G, Ali H, Bertola D, Calder A
Am J Med Genet A. 2023; 191(5):1164-1209.
PMID: 36779427
PMC: 10081954.
DOI: 10.1002/ajmg.a.63132.
Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.
Chen P, Tan Z, Qiu A, Yin S, Zhou Y, Dong Z
Orphanet J Rare Dis. 2022; 17(1):249.
PMID: 35765008
PMC: 9238011.
DOI: 10.1186/s13023-022-02394-7.
Mutational Screening of Skeletal Genes in 14 Chinese Children with Osteogenesis Imperfecta Using Targeted Sequencing.
Tan W, Ji Y, Qian Y, Lin Y, Ye R, Wu W
J Immunol Res. 2022; 2022:5068523.
PMID: 35647203
PMC: 9135566.
DOI: 10.1155/2022/5068523.
Prevalence and Hospital Admissions in Patients With Osteogenesis Imperfecta in The Netherlands: A Nationwide Registry Study.
Storoni S, Treurniet S, Maugeri A, Pals G, van den Aardweg J, van der Pas S
Front Endocrinol (Lausanne). 2022; 13:869604.
PMID: 35546999
PMC: 9082351.
DOI: 10.3389/fendo.2022.869604.
Identification of a Rare Variant of c.1777G>A (p.G593S) in the Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing.
Zhuang J, Chen C, Chen Y, Luo Q, Wang Y, Jiang Y
Front Pediatr. 2022; 10:816090.
PMID: 35463886
PMC: 9028459.
DOI: 10.3389/fped.2022.816090.
