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Page 1
CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays.
Windpassinger C, Piard J, Bonnard C, Alfadhel M, Lim S, Bisteau X, Blouin S, Ali NB, Ng AYJ, Lu H, Tohari S, Talib SZA, van Hul N, Caldez MJ, Van Maldergem L, Yigit G, Kayserili H, Youssef SA, Coppola V, de Bruin A, Tessarollo L, Choi H, Rupp V, Roetzer K, Roschger P, Klaushofer K, Altmüller J, Roy S, Venkatesh B, Ganger R, Grill F, Ben Chehida F, Wollnik B, Altunoglu U, Al Kaissi A, Reversade B, Kaldis P. Windpassinger C, et al. Among authors: roetzer k. Am J Hum Genet. 2017 Sep 7;101(3):391-403. doi: 10.1016/j.ajhg.2017.08.003. Am J Hum Genet. 2017. PMID: 28886341 Free PMC article.
Novel PHEX mutation associated with hypophosphatemic rickets.
Roetzer KM, Varga F, Zwettler E, Nawrot-Wawrzyniak K, Haller J, Forster E, Klaushofer K. Roetzer KM, et al. Nephron Physiol. 2007;106(1):p8-12. doi: 10.1159/000101487. Epub 2007 Apr 2. Nephron Physiol. 2007. PMID: 17406123
Effects of tumor-induced osteomalacia on the bone mineralization process.
Nawrot-Wawrzyniak K, Varga F, Nader A, Roschger P, Sieghart S, Zwettler E, Roetzer KM, Lang S, Weinkamer R, Klaushofer K, Fratzl-Zelman N. Nawrot-Wawrzyniak K, et al. Among authors: roetzer km. Calcif Tissue Int. 2009 Apr;84(4):313-23. doi: 10.1007/s00223-009-9216-z. Epub 2009 Feb 14. Calcif Tissue Int. 2009. PMID: 19219382 Free article.
Altered bone matrix mineralization in a patient with Rett syndrome.
Hofstaetter JG, Roetzer KM, Krepler P, Nawrot-Wawrzyniak K, Schwarzbraun T, Klaushofer K, Roschger P. Hofstaetter JG, et al. Among authors: roetzer km. Bone. 2010 Sep;47(3):701-5. doi: 10.1016/j.bone.2010.06.005. Epub 2010 Jun 18. Bone. 2010. PMID: 20601296
Extra phenotypic features in a girl with Miller syndrome.
Al Kaissi A, Roetzer KM, Ulz P, Heitzer E, Klaushofer K, Grill F. Al Kaissi A, et al. Among authors: roetzer km. Clin Dysmorphol. 2011 Apr;20(2):66-72. doi: 10.1097/MCD.0b013e3283416701. Clin Dysmorphol. 2011. PMID: 21346561
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Lionel AC, Vaags AK, Sato D, Gazzellone MJ, Mitchell EB, Chen HY, Costain G, Walker S, Egger G, Thiruvahindrapuram B, Merico D, Prasad A, Anagnostou E, Fombonne E, Zwaigenbaum L, Roberts W, Szatmari P, Fernandez BA, Georgieva L, Brzustowicz LM, Roetzer K, Kaschnitz W, Vincent JB, Windpassinger C, Marshall CR, Trifiletti RR, Kirmani S, Kirov G, Petek E, Hodge JC, Bassett AS, Scherer SW. Lionel AC, et al. Among authors: roetzer k. Hum Mol Genet. 2013 May 15;22(10):2055-66. doi: 10.1093/hmg/ddt056. Epub 2013 Feb 7. Hum Mol Genet. 2013. PMID: 23393157 Clinical Trial.
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