Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients-Reference-Cited by-同舟云学术

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Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients

Published:2017-08-15 Issue:1 Volume:11 Page:
ISSN:1479-7364
Container-title:Human Genomics
language:en
Short-container-title:Hum Genomics

Author:

Zhytnik Lidiia,Maasalu Katre,Reimann Ene,Prans Ele,Kõks Sulev,Märtson Aare

Funder

Estonian Science Agency

European Regional Development Fund and Archimedes Foundation

University of Tartu Development Fund

University of Tartu Baseline Funding

European Union 7th Framework Programme

Publisher

Springer Science and Business Media LLC

Subject

Drug Discovery,Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s40246-017-0115-5.pdf

Reference41 articles.

1. Martin E, Shapiro JR. Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2009;5(3):91–7. doi: 10.1007/s11914-007-0023-z .

2. Byers PH, Steiner RD. Osteogenesis imperfecta. Annu Rev Med. 1992;43:269–82. doi: 10.1146/annurev.me.43.020192.001413 .

3. Martin E, Shapiro JR. Osteogenesis imperfecta: epidemiology and pathophysiology. Curr Osteoporos Rep. 2007;5(3):91–7. http://www.ncbi.nlm.nih.gov/pubmed/17925189 . Accessed 5 Apr 2017

4. Van Dijk FS, Sillence DO. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment. Am J Med Genet A. 2014;164A(6):1470–81. doi: 10.1002/ajmg.a.36545 .

5. Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979;16(2):101–16. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1012733&tool=pmcentrez&rendertype=abstract . Accessed 18 Sept 2014

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1. Osteogenesis Imperfecta: A study of the patient journey in 13 European countries;Orphanet Journal of Rare Diseases;2024-09-09

2. Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes;Frontiers in Endocrinology;2023-10-20

3. NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study;Frontiers in Endocrinology;2023-09-22

4. Cardiac PDGFRα⁺interstitial cells generate spontaneous inward currents that contribute to excitability in the heart;The FASEB Journal;2023-04-22

5. COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder;American Journal of Medical Genetics Part C: Seminars in Medical Genetics;2023-03-09

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