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Evidence Search

Search reputable indexed orthopaedic literature from multiple scholarly sources, classify the evidence, and link papers directly to wiki topics and cases.

Sources: PubMed, Europe PMC, Crossref

Linking results to Wiki: Osteogenesis Imperfecta — Sillence Types
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Results are classified automatically from source metadata across PubMed, Europe PMC, and Crossref.
PubMed Crossref
PubMed Cohort / Comparative Study Evidence Moderate

Lung function in adult patients with osteogenesis imperfecta: a cohort study.

Orphanet journal of rare diseases | 2024 | Lenoir A, Aubry-Rozier B, Bregou A, Gonzalez Rodriguez E

[Indexed for MEDLINE] Conflict of interest statement: Declarations. Ethics approval and consent to participate: This study was approved by the Ethics Committee of canton Vaud, Switzerland (CER Vaud 2018–01673). Consent for publication: Not applicable. Competing interests: The authors declare that they have no competing interests. 13. Paediatr Anaesth. 2022 Jul;32(7):851-861. do...

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PubMed Narrative Review Evidence Moderate

Comprehensive risk assessments and anesthetic management for children with osteogenesis imperfecta: A retrospective review of 252 orthopedic procedures over 5 years.

Paediatric anaesthesia | 2022 | Liang X, Chen P, Chen C, Che W

[Indexed for MEDLINE] 14. Mol Syndromol. 2025 Nov 28. doi: 10.1159/000549437. Online ahead of print. Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report. de Freitas Netto F(1), de Oliveira Sobrinho RP(1), de Almeida TF(2), Steiner CE(1); Brazilian Rare Genomes Project Consortium. Author information: (1)Departamento de Gené...

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PubMed Narrative Review Evidence Moderate

Classification of osteogenesis imperfecta.

Wiener medizinische Wochenschrift (1946) | 2015 | Fratzl-Zelman N, Misof BM, Roschger P, Klaushofer K

[Indexed for MEDLINE] 4. Clin Transl Sci. 2020 Sep;13(5):960-971. doi: 10.1111/cts.12783. Epub 2020 Apr 3. Inter- and Intrafamilial Phenotypic Variability in Individuals with Collagen-Related Osteogenesis Imperfecta. Zhytnik L(1), Maasalu K(1)(2), Reimand T(3)(4)(5), Duy BH(6), Kõks S(7), Märtson A(1)(2). Author information: (1)Department of Traumatology and Orthopedics, Instit...

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PubMed Case Report / Series Evidence Low

Bathrocephaly and Serpentine Fibula as Underrated Features of Osteogenesis Imperfecta Type I: A Case Report.

Molecular syndromology | 2025 | de Freitas Netto F, de Oliveira Sobrinho RP, de Almeida TF, Steiner CE

Conflict of interest statement: The authors declare that they have no conflicts of interest. 15. Genes (Basel). 2022 Feb 24;13(3):407. doi: 10.3390/genes13030407. Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant. Zhytnik L(1)(2), Duy BH(3), Eekhoff M(4), Wisse L(1), Pals G(1), Reimann E(5), Kõks S(6)(7), Märtson A(2...

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PubMed Case Report / Series Evidence Low

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

Cureus | 2024 | Elhaddadi H, Ayyad A, Messaoudi S, Amrani R

Conflict of interest statement: The authors have declared that no competing interests exist. 17. Am J Med Genet A. 2012 Nov;158A(11):2714-8. doi: 10.1002/ajmg.a.35529. Epub 2012 Aug 7. Anthropometric measurements in Egyptian patients with osteogenesis imperfecta. Aglan MS(1), Zaki ME, Hosny L, El-Houssini R, Oteify G, Temtamy SA. Author information: (1)Department of Clinical Ge...

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PubMed Case Report / Series Evidence Low

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

Bone reports | 2022 | Bobyn A, Jetha M, Frohlich B, Campbell S

Conflict of interest statement: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. 7. Osteoporos Int. 2016 Nov;27(11):3331-3341. doi: 10.1007/s00198-016-3653-0. Epub 2016 Jun 2. Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations wi...

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PubMed Narrative Review Evidence Moderate

Osteogenesis Imperfecta: A Review with Clinical Examples.

Molecular syndromology | 2011 | van Dijk FS, Cobben JM, Kariminejad A, Maugeri A

12. Orphanet J Rare Dis. 2024 Dec 4;19(1):455. doi: 10.1186/s13023-024-03452-y. Lung function in adult patients with osteogenesis imperfecta: a cohort study. Lenoir A(#)(1), Aubry-Rozier B(#)(2), Bregou A(3), Gonzalez Rodriguez E(4), Paquier C(5), Tanniger J(5), Faouzi M(#)(6), Lazor R(#)(7)(8). Author information: (1)Department of Medicine V, LMU University Hospital, LMU, Muni...

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PubMed Original Article Evidence Unclassified

Height prediction of individuals with osteogenesis imperfecta by machine learning.

Orphanet journal of rare diseases | 2024 | Yang H, Zhu W, Li B, Wang H

[Indexed for MEDLINE] Conflict of interest statement: None of authors received any financial support that might pose a conflict of interest in connection with the submitted article. 10. J Am Acad Orthop Surg. 2008 Jun;16(6):356-66. doi: 10.5435/00124635-200806000-00008. Osteogenesis imperfecta: diagnosis and treatment. Burnei G(1), Vlad C, Georgescu I, Gavriliu TS, Dan D. Autho...

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PubMed Original Article Evidence Unclassified

Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta.

Journal of pediatric endocrinology & metabolism : JPEM | 2024 | Evin F, Atik T, Onay H, Goksen D

[Indexed for MEDLINE] 20. World J Clin Cases. 2023 Apr 26;11(12):2604-2620. doi: 10.12998/wjcc.v11.i12.2604. Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling. Panzaru MC(1), Florea A(2), Caba L(1), Gorduza EV(1). Author information: (1)Department of Medical Genetics, Faculty of Medicine, "Grigore T. Popa" University of Medicine and Ph...

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PubMed Narrative Review Evidence Moderate

Osteogenesis imperfecta: diagnosis and treatment.

The Journal of the American Academy of Orthopaedic Surgeons | 2008 | Burnei G, Vlad C, Georgescu I, Gavriliu TS

[Indexed for MEDLINE] 11. Mol Syndromol. 2011 Dec;2(1):1-20. doi: 10.1159/000332228. Epub 2011 Oct 12. Osteogenesis Imperfecta: A Review with Clinical Examples. van Dijk FS(1), Cobben JM, Kariminejad A, Maugeri A, Nikkels PG, van Rijn RR, Pals G. Author information: (1)Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands. Osteogenesis imperf...

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PubMed Original Article Evidence Unclassified

Patterns of femoral neck fracture and its treatment methods in patients with osteogenesis imperfecta.

Journal of pediatric orthopedics. Part B | 2022 | Hong WK, Lee DJ, Chung H, Lim C

[Indexed for MEDLINE] 6. Bone Rep. 2022 Feb 8;16:101171. doi: 10.1016/j.bonr.2022.101171. eCollection 2022 Jun. Metaphyseal and posterior rib fractures in osteogenesis imperfecta: Case report and review of the literature. Bobyn A(1), Jetha M(2), Frohlich B(2), Campbell S(3), Jaremko JL(4), Caluseriu O(1)(2)(5), Grimbly C(2). Author information: (1)Faculty of Medicine and Dentis...

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PubMed Original Article Evidence Unclassified

Phenotypic Variation in Vietnamese Osteogenesis Imperfecta Patients Sharing a Recessive P3H1 Pathogenic Variant.

Genes | 2022 | Zhytnik L, Duy BH, Eekhoff M, Wisse L

[Indexed for MEDLINE] Conflict of interest statement: The authors declare no conflict of interest. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript; or in the decision to publish the results. 16. Cureus. 2024 May 23;16(5):e60945. doi: 10.7759/cureus.60945. eCollection 2024 May. Osteogene...

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PubMed Original Article Evidence Unclassified

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

Clinical and translational science | 2020 | Zhytnik L, Maasalu K, Reimand T, Duy BH

[Indexed for MEDLINE] Conflict of interest statement: All authors declared no competing interests for this work. 5. J Pediatr Orthop B. 2022 Mar 1;31(2):e114-e121. doi: 10.1097/BPB.0000000000000887. Patterns of femoral neck fracture and its treatment methods in patients with osteogenesis imperfecta. Hong WK(1), Lee DJ(2), Chung H(3), Lim C(4), Shin CH(1)(5), Yoo WJ(1)(5), Cho T...

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PubMed Original Article Evidence Unclassified

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

Zhonghua er ke za zhi = Chinese journal of pediatrics | 2020 | Luo YF, Dilihuma J, Sun GH, Reyilanmu B

[Indexed for MEDLINE] 9. Orphanet J Rare Dis. 2024 Nov 9;19(1):420. doi: 10.1186/s13023-024-03433-1. Height prediction of individuals with osteogenesis imperfecta by machine learning. Yang H(#)(1), Zhu W(#)(1), Li B(#)(1), Wang H(2), Xing C(1), Xiong Y(1), Ren X(3), Ning G(4). Author information: (1)Department of Orthopedics, International Science and Technology Cooperation Bas...

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PubMed Original Article Evidence Unclassified

Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA | 2016 | Hald JD, Folkestad L, Harsløf T, Lund AM

[Indexed for MEDLINE] 8. Zhonghua Er Ke Za Zhi. 2020 Feb 2;58(2):135-139. doi: 10.3760/cma.j.issn.0578-1310.2020.02.013. [Genotypes and phenotypes of nine Uygur children with osteogenesis imperfecta in Xinjiang]. [Article in Chinese; Abstract available in Chinese from the publisher] Luo YF(1), Dilihuma J(1), Sun GH(1), Reyilanmu B(1), Liang L(1), Du XY(1), Mireguli M(1). Author...

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PubMed Narrative Review Evidence Moderate

Osteogenesis Imperfecta.

Journal unavailable | 2000 | Feingold KR, Adler RA, Ahmed SF, Anawalt B

2. Orthopade. 2012 Sep;41(9):773-82; quiz 83-4. doi: 10.1007/s00132-012-1959-y. [Osteogenesis imperfecta]. [Article in German] Wirth T(1). Author information: (1)Orthopädische Klinik, Olgahospital, Klinikum Stuttgart, Bismarckstr. 8, 70176 Stuttgart, Deutschland. t.wirth@klinikum-stuttgart.de The classic Sillence classification of the four types of osteogenesis imperfecta (OI)...

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PubMed Original Article Evidence Unclassified

Serum sclerostin levels are decreased in adult patients with different types of osteogenesis imperfecta.

The Journal of clinical endocrinology and metabolism | 2014 | Kocijan R, Muschitz C, Fahrleitner-Pammer A, Amrein K

[Indexed for MEDLINE] 19. J Pediatr Endocrinol Metab. 2024 Jul 3;37(8):693-700. doi: 10.1515/jpem-2024-0058. Print 2024 Aug 27. Effectiveness of whole exome sequencing analyses in the molecular diagnosis of osteogenesis imperfecta. Evin F(1), Atik T(2), Onay H(3), Goksen D(4), Darcan S(4), Cogulu O(2), Ozen S(4). Author information: (1)Pediatric Endocrinology, Çiğli Training an...

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PubMed Original Article Evidence Unclassified

[Osteogenesis imperfecta].

Der Orthopade | 2012 | Wirth T

[Indexed for MEDLINE] 3. Wien Med Wochenschr. 2015 Jul;165(13-14):264-70. doi: 10.1007/s10354-015-0368-3. Epub 2015 Jul 25. Classification of osteogenesis imperfecta. Fratzl-Zelman N(1), Misof BM, Roschger P, Klaushofer K. Author information: (1)Ludwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, 1st Med. Dept. Hanusch Hospital, He...

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PubMed Original Article Evidence Unclassified

Anthropometric measurements in Egyptian patients with osteogenesis imperfecta.

American journal of medical genetics. Part A | 2012 | Aglan MS, Zaki ME, Hosny L, El-Houssini R

[Indexed for MEDLINE] 18. J Clin Endocrinol Metab. 2014 Feb;99(2):E311-9. doi: 10.1210/jc.2013-2244. Epub 2013 Nov 7. Serum sclerostin levels are decreased in adult patients with different types of osteogenesis imperfecta. Kocijan R(1), Muschitz C, Fahrleitner-Pammer A, Amrein K, Pietschmann P, Haschka J, Dinu S, Kapiotis S, Resch H. Author information: (1)Medical Department II...

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