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Clinical Utility Gene Card for: Fibrodysplasia ossificans progressiva.
Bravenboer N, Micha D, Triffit JT, Bullock AN, Ravazollo R, Bocciardi R, di Rocco M, Netelenbos JC, Ten Dijke P, Sánchez-Duffhues G, Kaplan FS, Shore EM, Pignolo RJ, Seemann P, Ventura F, Beaujat G, Eekhoff EM, Pals G. Bravenboer N, et al. Among authors: micha d. Eur J Hum Genet. 2015 Oct;23(10):1431. doi: 10.1038/ejhg.2014.274. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604857 Free PMC article. No abstract available.
Bone Microarchitecture and Strength Changes During Teriparatide and Zoledronic Acid Treatment in a Patient with Pregnancy and Lactation-Associated Osteoporosis with Multiple Vertebral Fractures.
Treurniet S, Bevers MSAM, Wyers CE, Micha D, Teunissen BP, Elting MW, van den Bergh JP, Eekhoff EMW. Treurniet S, et al. Among authors: micha d. Calcif Tissue Int. 2023 May;112(5):621-627. doi: 10.1007/s00223-023-01066-3. Epub 2023 Feb 10. Calcif Tissue Int. 2023. PMID: 36764958 Free PMC article.
Key4OI Recommendations for Lung Function Guidance in Osteogenesis Imperfecta: Based on an Internationally Performed Comprehensive International Consortium for Health Outcomes Measurement Procedure.
Chaney H, Mekking D, De Bakker D, Beeri E, Eekhoff EMW, Franken A, Kamp O, Micha D, Barreiros C, Tomlow B, van den Aardweg JG, LoMauro A, Folkestad L. Chaney H, et al. Among authors: micha d. Chest. 2023 May;163(5):1201-1213. doi: 10.1016/j.chest.2022.12.047. Epub 2023 Jan 12. Chest. 2023. PMID: 36640996
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: micha d. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis.
van de Laar IM, Oldenburg RA, Pals G, Roos-Hesselink JW, de Graaf BM, Verhagen JM, Hoedemaekers YM, Willemsen R, Severijnen LA, Venselaar H, Vriend G, Pattynama PM, Collée M, Majoor-Krakauer D, Poldermans D, Frohn-Mulder IM, Micha D, Timmermans J, Hilhorst-Hofstee Y, Bierma-Zeinstra SM, Willems PJ, Kros JM, Oei EH, Oostra BA, Wessels MW, Bertoli-Avella AM. van de Laar IM, et al. Among authors: micha d. Nat Genet. 2011 Feb;43(2):121-6. doi: 10.1038/ng.744. Epub 2011 Jan 9. Nat Genet. 2011. PMID: 21217753
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