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PPIB mutations cause severe osteogenesis imperfecta.
van Dijk FS, Nesbitt IM, Zwikstra EH, Nikkels PG, Piersma SR, Fratantoni SA, Jimenez CR, Huizer M, Morsman AC, Cobben JM, van Roij MH, Elting MW, Verbeke JI, Wijnaendts LC, Shaw NJ, Högler W, McKeown C, Sistermans EA, Dalton A, Meijers-Heijboer H, Pals G. van Dijk FS, et al. Among authors: hogler w. Am J Hum Genet. 2009 Oct;85(4):521-7. doi: 10.1016/j.ajhg.2009.09.001. Epub 2009 Sep 24. Am J Hum Genet. 2009. PMID: 19781681 Free PMC article.
TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.
Cangul H, Aycan Z, Saglam H, Forman JR, Cetinkaya S, Tarim O, Bober E, Cesur Y, Kurtoglu S, Darendeliler F, Bas V, Eren E, Demir K, Kiraz A, Aydin BK, Karthikeyan A, Kendall M, Boelaert K, Shaw NJ, Kirk J, Högler W, Barrett TG, Maher ER. Cangul H, et al. Among authors: hogler w. J Pediatr Endocrinol Metab. 2012;25(5-6):419-26. doi: 10.1515/jpem-2012-0053. J Pediatr Endocrinol Metab. 2012. PMID: 22876533
Phenotypic variability in patients with osteogenesis imperfecta caused by BMP1 mutations.
Pollitt RC, Saraff V, Dalton A, Webb EA, Shaw NJ, Sobey GJ, Mughal MZ, Hobson E, Ali F, Bishop NJ, Arundel P, Högler W, Balasubramanian M. Pollitt RC, et al. Among authors: hogler w. Am J Med Genet A. 2016 Dec;170(12):3150-3156. doi: 10.1002/ajmg.a.37958. Epub 2016 Aug 30. Am J Med Genet A. 2016. PMID: 27576954 Free article.
Phenotypic Spectrum in Osteogenesis Imperfecta Due to Mutations in TMEM38B: Unraveling a Complex Cellular Defect.
Webb EA, Balasubramanian M, Fratzl-Zelman N, Cabral WA, Titheradge H, Alsaedi A, Saraff V, Vogt J, Cole T, Stewart S, Crabtree NJ, Sargent BM, Gamsjaeger S, Paschalis EP, Roschger P, Klaushofer K, Shaw NJ, Marini JC, Högler W. Webb EA, et al. Among authors: hogler w. J Clin Endocrinol Metab. 2017 Jun 1;102(6):2019-2028. doi: 10.1210/jc.2016-3766. J Clin Endocrinol Metab. 2017. PMID: 28323974 Free PMC article.
174 results