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LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development.
Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM, Wang H, Cundy T, Glorieux FH, Lev D, Zacharin M, Oexle K, Marcelino J, Suwairi W, Heeger S, Sabatakos G, Apte S, Adkins WN, Allgrove J, Arslan-Kirchner M, Batch JA, Beighton P, Black GC, Boles RG, Boon LM, Borrone C, Brunner HG, Carle GF, Dallapiccola B, De Paepe A, Floege B, Halfhide ML, Hall B, Hennekam RC, Hirose T, Jans A, Jüppner H, Kim CA, Keppler-Noreuil K, Kohlschuetter A, LaCombe D, Lambert M, Lemyre E, Letteboer T, Peltonen L, Ramesar RS, Romanengo M, Somer H, Steichen-Gersdorf E, Steinmann B, Sullivan B, Superti-Furga A, Swoboda W, van den Boogaard MJ, Van Hul W, Vikkula M, Votruba M, Zabel B, Garcia T, Baron R, Olsen BR, Warman ML; Osteoporosis-Pseudoglioma Syndrome Collaborative Group. Gong Y, et al. Cell. 2001 Nov 16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2. Cell. 2001. PMID: 11719191 Free article.
Deletion mapping on chromosome 17p in medulloblastoma.
Steichen-Gersdorf E, Baumgartner M, Kreczy A, Maier H, Fink FM. Steichen-Gersdorf E, et al. Br J Cancer. 1997;76(10):1284-7. doi: 10.1038/bjc.1997.549. Br J Cancer. 1997. PMID: 9374372 Free PMC article.
Activity of childhood lupus nephritis is linked to altered T cell and cytokine homeostasis.
Edelbauer M, Kshirsagar S, Riedl M, Billing H, Tönshoff B, Haffner D, Cortina G, Amon O, Ross S, Dötsch J, Wechselberger G, Weber LT, Dablander M, Anliker M, Griesmacher A, Steichen-Gersdorf E. Edelbauer M, et al. J Clin Immunol. 2012 Jun;32(3):477-87. doi: 10.1007/s10875-011-9637-0. Epub 2012 Jan 8. J Clin Immunol. 2012. PMID: 22228566
Homozygous SYNE1 mutation causes congenital onset of muscular weakness with distal arthrogryposis: a genotype-phenotype correlation.
Baumann M, Steichen-Gersdorf E, Krabichler B, Petersen BS, Weber U, Schmidt WM, Zschocke J, Müller T, Bittner RE, Janecke AR. Baumann M, et al. Among authors: steichen gersdorf e. Eur J Hum Genet. 2017 Feb;25(2):262-266. doi: 10.1038/ejhg.2016.144. Epub 2016 Oct 26. Eur J Hum Genet. 2017. PMID: 27782104 Free PMC article.
32 results