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■ Abbreviation / Long Form : OI / osteogenesis imperfecta

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Abbreviation:   OI  (>> Co-occurring Abbreviation)
Long Form:   osteogenesis imperfecta
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2019 A Case of Osteogenesis Imperfecta Type II With Additional Balanced Translocation t(1;20)(p13;p11.2). ---
2019 A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. COPII, CREB3L1, OASIS
2019 A Multicenter Observational Cohort Study to Evaluate the Effects of Bisphosphonate Exposure on Bone Mineral Density and Other Health Outcomes in Osteogenesis Imperfecta. aBMD, BPN, LS
2019 A novel missense mutation in P4HB causes mild osteogenesis imperfecta. BMD, PDI
2019 A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly. EDS
2019 A novel transgenic murine model with persistently brittle bones simulating osteogenesis imperfecta type I. ADSCs, YAP
2019 Acute and long-term effects of zoledronate in adult patients with osteogenesis imperfecta. An observational Spanish study with five years of follow-up. BMD
2019 An update on the role of RANKL-RANK/osteoprotegerin and WNT-ss-catenin signaling pathways in pediatric diseases. AKU, DKK1, OBs, OCs, PWS, T1DM
2019 Aortic aneurysm/dissection and osteogenesis imperfecta: Four new families and review of the literature. ---
10  2019 Assessing a possible vulnerability to dental caries in individuals with rare genetic diseases that affect the skeletal development. MPS
11  2019 Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. ER, WNT, WT
12  2019 Beware of Osteogenesis Imperfecta: Subdural Hematoma in a 10-Year-Old Child With Minor Head Trauma. SDH
13  2019 Bleeding and bruising in Osteogenesis Imperfecta: International Society on Thrombosis and Haemostasis bleeding assessment tool and haemostasis laboratory assessment in 22 individuals. BS, ISTH-BAT
14  2019 Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes. ---
15  2019 Bone Marrow Transplantation for Treatment of the Col1a2+/G610C Osteogenesis Imperfecta Mouse Model. BMD, BMT, BV, WT
16  2019 Bruck syndrome 2 variant lacking congenital contractures and involving a novel compound heterozygous PLOD2 mutation. AR, BRKS, ExAC
17  2019 Calcium intake improvement after nutritional intervention in paediatric patients with osteogenesis imperfecta. BMD, BMR, NI
18  2019 Caries prevalence and experience in individuals with osteogenesis imperfecta: A cross-sectional multicenter study. CPE, DI
19  2019 Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate. 4-PBA, CRTAP, ER, p-PERK, P3H1
20  2019 Challenges of delivery of dental care and dental pathologies in children and young people with osteogenesis imperfecta. DNA
21  2019 Clinical pathologies of bone fracture modelled in zebrafish. ---
22  2019 Co-occurrence of heterozygous mutations in COL1A1 and SERPINF1 in a high-risk pregnancy complicated by osteogenesis imperfecta. ---
23  2019 COL1A1 C-propeptide mutations cause ER mislocalization of procollagen and impair C-terminal procollagen processing. ---
24  2019 COL1A1/2 Pathogenic Variants and Phenotype Characteristics in Ukrainian Osteogenesis Imperfecta Patients. ---
25  2019 COL1A2 p.Gly1066Val variant identified in a Han Chinese family with osteogenesis imperfecta type I. DI
26  2019 Complex spine deformities in young patients with severe osteogenesis imperfecta: current concepts review. ---
27  2019 Compound heterozygosity for a frameshift mutation and an upstream deletion that reduces expression of SERPINH1 in siblings with a moderate form of osteogenesis imperfecta. ---
28  2019 Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in COL1A1 and COL5A1. EDS
29  2019 Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta. NGS
30  2019 Compromised Exercise Capacity and Mitochondrial Dysfunction in the Osteogenesis Imperfecta Murine (oim) Mouse Model. oim
31  2019 Cone-Beam Computed Tomography of Osteogenesis Imperfecta Types III and IV: Three-Dimensional Evaluation of Craniofacial Features and Upper Airways. CBCT, ENT
32  2019 Current concepts in osteogenesis imperfecta: bone structure, biomechanics and medical management. ---
33  2019 Cyclic pamidronate treatment for osteogenesis imperfecta: Report from a Brazilian reference center. BMD, DXA
34  2019 De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta. ---
35  2019 Dental alterations on panoramic radiographs of patients with osteogenesis imperfecta in relation to clinical diagnosis, severity, and bisphosphonate regimen aspects: a STROBE-compliant case-control study. PRs
36  2019 Dental and craniofacial characteristics caused by the p.Ser40Leu mutation in IFITM5. ---
37  2019 Dentinogenesis imperfecta in Osteogenesis imperfecta type XI in South Africa: a genotype-phenotype correlation. ---
38  2019 Developing pathways to clarify pathogenicity of unclassified variants in Osteogenesis Imperfecta genetic analysis. VUS
39  2019 Development of scoliosis in young children with osteogenesis imperfecta undergoing intravenous bisphosphonate therapy. PAM
40  2019 Do femoral fractures in adult patients with osteogenesis imperfecta imitate atypical femoral fractures? A case series. AFF, AFFs, BP
41  2019 Effect of Anti-TGF-beta Treatment in a Mouse Model of Severe Osteogenesis Imperfecta. TGF-beta
42  2019 Effect of rapamycin on bone mass and strength in the alpha2(I)-G610C mouse model of osteogenesis imperfecta. ER
43  2019 Effects of zoledronic acid on vertebral shape of children and adolescents with osteogenesis imperfecta. PA, VCF, ZOL
44  2019 Elastic intramedullary nailing of the femur fracture in patients affected by osteogenesis imperfecta type 3: Indications, limits and pitfalls. ROM, SN, TEN
45  2019 Endoplasmic reticulum stress is induced in growth plate hypertrophic chondrocytes in G610C mouse model of osteogenesis imperfecta. ER
46  2019 Evidence for a de novo, dominant germ-line mutation causative of osteogenesis imperfecta in two Red Angus calves. ---
47  2019 Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review. CRP, ESR
48  2019 Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments. ---
49  2019 Exploring the impact of Osteogenesis Imperfecta on families: A mixed-methods systematic review. ---
50  2019 Gait Deviations in Children With Osteogenesis Imperfecta Type I. MTL
51  2019 Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients. ---
52  2019 Genotype-phenotype relationship in a large cohort of osteogenesis imperfecta patients with COL1A1 mutations revealed by a new scoring system. DI
53  2019 Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta. ---
54  2019 Growth characteristics in individuals with osteogenesis imperfecta in North America: results from a multicenter study. BMI
55  2019 Health-related quality of life in children with osteogenesis imperfecta: a large-sample study. BMD, HRQoL, QOL
56  2019 Hearing impairment and osteogenesis imperfecta: Literature review. ---
57  2019 Humeral Shaft Non-union in a Patient with Osteogenesis Imperfecta Treated with Mandible Locking Plate Fixation: A Case Report. ---
58  2019 IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients. ---
59  2019 Impact of fracture characteristics and disease-specific complications on health-related quality of life in osteogenesis imperfecta. HRQoL, PCS, SF-36
60  2019 Incidence of Fractures From Perioperative Blood Pressure Cuff Use, Tourniquet Use, and Patient Positioning in Osteogenesis Imperfecta. NIBP
61  2019 Incorporating the patient perspective in the study of rare bone disease: insights from the osteogenesis imperfecta community. BBDC, PRO
62  2019 Increased Rates of Vitamin D Insufficiency in Boys With Duchenne Muscular Dystrophy Despite Higher Vitamin D3 Supplementation. DMD, SLE
63  2019 Individualized treatment with denosumab in children with osteogenesis imperfecta - follow up of a trial cohort. aBMD
64  2019 Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series. VUS
65  2019 Kinetic and Kinematic Analysis of Gait in Type IV Osteogenesis Imperfecta Patients: A Comparative Study. GRF
66  2019 Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen. BMI, CDC, GAMLSS
67  2019 Management of Catastrophic Proximal Junctional Failure Following Spinal Deformity Correction in an Adult with Osteogenesis Imperfecta: Case Report and Technical Note. ASD, PJF
68  2019 Mendelian bone fragility disorders. ---
69  2019 Mesenchymal Cell-Derived Juxtacrine Wnt1 Signaling Regulates Osteoblast Activity and Osteoclast Differentiation. ---
70  2019 Mobility in osteogenesis imperfecta: a multicenter North American study. ---
71  2019 Morphology of Osteogenesis Imperfecta Collagen Mimetic Peptide Assemblies Correlates with the Identity of Glycine-Substituting Residue. ---
72  2019 Mutation spectrum of COL1A1/COL1A2 screening by high-resolution melting analysis of Chinese patients with osteogenesis imperfecta. HRM, WES
73  2019 Neutral Sphingomyelinase 2 (SMPD3) Deficiency in Mice Causes Chondrodysplasia with Unimpaired Skeletal Mineralization. ---
74  2019 Novel ActRIIB ligand trap increases muscle mass and improves bone geometry in a mouse model of severe osteogenesis imperfecta. ---
75  2019 Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta. NGS
76  2019 NOVEL MUTATIONS IN THE WNT1, TMEM38B, P4HB, AND PLS3 GENES IN FOUR UNRELATED CHINESE FAMILIES WITH OSTEOGENESIS IMPERFECTA. ---
77  2019 Olecranon Fractures in Pediatric Patients With Osteogenesis Imperfecta. ---
78  2019 Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome. HPE, PHD, PSIS
79  2019 Osteogenesis imperfecta in Brazilian patients. ---
80  2019 Osteogenesis Imperfecta: New Perspectives From Clinical and Translational Research. ---
81  2019 Osteogenesis Imperfecta: Skeletal Outcomes After Bisphosphonate Discontinuation at Final Height. BMD
82  2019 Outcomes following intravenous bisphosphonate infusion in pediatric patients: A 7-year retrospective chart review. AFF, APR, BMD, GIO, IV-BP, LS, ONJ, PAM, ZA
83  2019 Personalized surgery approach in severe form of osteogenesis imperfecta type III: point of view. ---
84  2019 Pregnancy-associated osteoporosis: a UK case series and literature review. BMD, LMWH, PAO, RNHRD
85  2019 Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta. AR
86  2019 Radiotherapy Late Effects and Osteogenesis Imperfecta: Dos and Don'ts in Clinical Practice. ---
87  2019 Results of Rodding and Impact on Ambulation and Refracture in Osteogenesis Imperfecta: Study of 21 Children. FD, H and B
88  2019 Results of stapedotomy in otosurgical treatment of adult patients with osteogenesis imperfecta. ABG, HG
89  2019 Sclerostin Antibody-Induced Changes in Bone Mass are Site Specific in Developing Crania. Scl-Ab
90  2019 Scoliosis and Cardiopulmonary Outcomes in Osteogenesis Imperfecta Patients. FEV1, FVC
91  2019 Solanum muricatum Ameliorates the Symptoms of Osteogenesis Imperfecta In Vivo. SM
92  2019 Splice receptor-site mutation c.697-2A>G of the COL1A1 gene in a Chinese family with osteogenesis imperfecta. ---
93  2019 Stakeholder views and attitudes towards prenatal and postnatal transplantation of fetal mesenchymal stem cells to treat Osteogenesis Imperfecta. MSCs
94  2019 Stress, Depression, and Quality of Life Among Caregivers of Children With Osteogenesis Imperfecta. QOL
95  2019 The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta. ADO, NGS, PGD, SNP
96  2019 The effect of bisphosphonate medication on orthodontics and orthognathic surgery in patients with osteogenesis imperfecta. ---
97  2019 The first family with adult osteogenesis imperfecta caused by a novel homozygous mutation in CREB3L1. ---
98  2019 The management of osteogenesis imperfecta in adults: state of the art. ---
99  2019 The Osteocyte Transcriptome Is Extensively Dysregulated in Mouse Models of Osteogenesis Imperfecta. WT
100  2019 Treatment of tibial deformities with the Fassier-Duval telescopic nail and minimally invasive percutaneous osteotomies in patients with osteogenesis imperfecta type III. FD