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Page 1
Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center.
Eekhoff EMW, Micha D, Forouzanfar T, de Vries TJ, Netelenbos JC, Klein-Nulend J, van Loon JJWA, Lubbers WD, Schwarte L, Schober P, Raijmakers PGHM, Teunissen BP, de Graaf P, Lammertsma AA, Yaqub MM, Botman E, Treurniet S, Smilde BJ, Bökenkamp A, Boonstra A, Kamp O, Nieuwenhuijzen JA, Visser MC, Baayen HJC, Dahele M, Eeckhout GAM, Goderie TPM, Smits C, Gilijamse M, Karagozoglu KH, van de Valk P, Dickhoff C, Moll AC, Verbraak FFD, Curro-Tafili KKR, Ghyczy EAE, Rustemeyer T, Saeed P, Maugeri A, Pals G, Ridwan-Pramana A, Pekel E, Schoenmaker T, Lems W, Winters HAH, Botman M, Giannakópoulos GF, Koolwijk P, Janssen JJWM, Kloen P, Bravenboer N, Smit JM, Helder MN. Eekhoff EMW, et al. Among authors: micha d. Front Endocrinol (Lausanne). 2020 Aug 11;11:481. doi: 10.3389/fendo.2020.00481. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32849274 Free PMC article.
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.
PLS3 mutations in X-linked osteoporosis with fractures.
van Dijk FS, Zillikens MC, Micha D, Riessland M, Marcelis CL, de Die-Smulders CE, Milbradt J, Franken AA, Harsevoort AJ, Lichtenbelt KD, Pruijs HE, Rubio-Gozalbo ME, Zwertbroek R, Moutaouakil Y, Egthuijsen J, Hammerschmidt M, Bijman R, Semeins CM, Bakker AD, Everts V, Klein-Nulend J, Campos-Obando N, Hofman A, te Meerman GJ, Verkerk AJ, Uitterlinden AG, Maugeri A, Sistermans EA, Waisfisz Q, Meijers-Heijboer H, Wirth B, Simon ME, Pals G. van Dijk FS, et al. Among authors: micha d. N Engl J Med. 2013 Oct 17;369(16):1529-36. doi: 10.1056/NEJMoa1308223. Epub 2013 Oct 2. N Engl J Med. 2013. PMID: 24088043 Free article.
Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome.
Franken R, den Hartog AW, Radonic T, Micha D, Maugeri A, van Dijk FS, Meijers-Heijboer HE, Timmermans J, Scholte AJ, van den Berg MP, Groenink M, Mulder BJ, Zwinderman AH, de Waard V, Pals G. Franken R, et al. Among authors: micha d. Circ Cardiovasc Genet. 2015 Apr;8(2):383-8. doi: 10.1161/CIRCGENETICS.114.000950. Epub 2015 Jan 22. Circ Cardiovasc Genet. 2015. PMID: 25613431 Clinical Trial.
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