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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1993 1
1995 1
1998 2
1999 3
2000 3
2003 2
2005 2
2006 2
2007 1
2008 2
2010 1
2012 1
2013 2
2014 2
2016 2
2017 1
2019 3
2020 3
2022 2
2024 0

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35 results

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Page 1
Analysis of the clinical and genetic characteristics of a Chinese family with osteogenesis imperfecta type I.
Niu Z, Lai Y, Zhou W, Liu L, Tan S, He G, Li J, Tang F, Su Y, Xu Y, Liu L, Xie L, Fang Q, Tang A. Niu Z, et al. Mol Genet Genomic Med. 2022 Sep;10(9):e2019. doi: 10.1002/mgg3.2019. Epub 2022 Jul 19. Mol Genet Genomic Med. 2022. PMID: 35855543 Free PMC article.
BACKGROUND: Osteogenesis imperfecta type I (OI-I) is a rare genetic disorder characterized by skeletal deformity, bone fragility, blue sclerae, dentinogenesis imperfecta, and hearing loss. ...
BACKGROUND: Osteogenesis imperfecta type I (OI-I) is a rare genetic disorder characterized by skeletal deformity …
Delineation of dual molecular diagnosis in patients with skeletal deformity.
Liu L, Sun L, Chen Y, Wang M, Yu C, Huang Y, Zhao S, Du H, Chen S, Fan X, Tian W, Wu Z; Deciphering Disorders Involving Scoliosis and COmorbidities (DISCO) study group; Qiu G, Zhang TJ, Wu N. Liu L, et al. Orphanet J Rare Dis. 2022 Mar 28;17(1):139. doi: 10.1186/s13023-022-02293-x. Orphanet J Rare Dis. 2022. PMID: 35346302 Free PMC article.
Patients with dual molecular diagnosis presented blended phenotypes of two genetic diseases. Mendelian disorders occurred more than once include Osteogenesis Imperfecta Type I (COL1A1, MIM:166200), Neurofibromatosis, Type I (NF1, MIM:162200) and Marfan …
Patients with dual molecular diagnosis presented blended phenotypes of two genetic diseases. Mendelian disorders occurred more than once inc …
Otoscopic Manifestations of Osteogenesis Imperfecta Type I.
Azmy MC, Kandinov A, Patel TD, Jyung RW. Azmy MC, et al. Ear Nose Throat J. 2020 Jan;99(1):30-31. doi: 10.1177/0145561319842512. Epub 2019 May 9. Ear Nose Throat J. 2020. PMID: 31072201 Free article. No abstract available.
Hypercalciuria in osteogenesis imperfecta type I.
Ammenti A, Nitsch M. Ammenti A, et al. Klin Padiatr. 2003 Sep-Oct;215(5):283-5. doi: 10.1055/s-2003-42665. Klin Padiatr. 2003. PMID: 14520592
BACKGROUND: In Osteogenesis Imperfecta severity of disease and reduced physical activity have been considered the main factors contributing to hypercalciuria; however, its pathogenesis in Osteogenesis Imperfecta Type I, in which mobility is normal, is …
BACKGROUND: In Osteogenesis Imperfecta severity of disease and reduced physical activity have been considered the main factors contributing …
Studies of type I collagen in osteogenesis imperfecta.
Edwards MJ, Graham JM Jr. Edwards MJ, et al. J Pediatr. 1990 Jul;117(1 Pt 1):67-72. doi: 10.1016/s0022-3476(05)82445-x. J Pediatr. 1990. PMID: 2370612
We used the results of skin fibroblast type I collagen analysis to improve the accuracy of diagnosis and genetic counseling for six patients with osteogenesis imperfecta. The fibroblasts of two patients with osteogenesis imperfecta type I synthesized a …
We used the results of skin fibroblast type I collagen analysis to improve the accuracy of diagnosis and genetic counseling for six patients …
A review on the genetics of otosclerosis.
Moumoulidis I, Axon P, Baguley D, Reid E. Moumoulidis I, et al. Clin Otolaryngol. 2007 Aug;32(4):239-47. doi: 10.1111/j.1365-2273.2007.01475.x. Clin Otolaryngol. 2007. PMID: 17651264 Review.
While clinical similarities and some unreplicated genetic association studies suggest an aetiological relationship between otosclerosis and osteogenesis imperfecta-type I, there is no definite evidence of a common pathological process between the two d …
While clinical similarities and some unreplicated genetic association studies suggest an aetiological relationship between otosclerosis and …
35 results