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399 results

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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. Among authors: steinmann b. Cell. 2001 Nov 16;107(4):513-23. doi: 10.1016/s0092-8674(01)00571-2. Cell. 2001. PMID: 11719191 Free article.
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13.
Gong Y, Vikkula M, Boon L, Liu J, Beighton P, Ramesar R, Peltonen L, Somer H, Hirose T, Dallapiccola B, De Paepe A, Swoboda W, Zabel B, Superti-Furga A, Steinmann B, Brunner HG, Jans A, Boles RG, Adkins W, van den Boogaard MJ, Olsen BR, Warman ML. Gong Y, et al. Among authors: steinmann b. Am J Hum Genet. 1996 Jul;59(1):146-51. Am J Hum Genet. 1996. PMID: 8659519 Free PMC article.
Osteoporosis-pseudoglioma or osteogenesis imperfecta?
Superti-Furga A, Steinmann B, Perfumo F. Superti-Furga A, et al. Among authors: steinmann b. Clin Genet. 1986 Feb;29(2):184-5. doi: 10.1111/j.1399-0004.1986.tb01249.x. Clin Genet. 1986. PMID: 3955875 No abstract available.
Type III collagen deficiency.
Superti-Furga A, Steinmann B, Byers PH. Superti-Furga A, et al. Among authors: steinmann b. Lancet. 1989 Apr 22;1(8643):903-4. doi: 10.1016/s0140-6736(89)92899-7. Lancet. 1989. PMID: 2564982 No abstract available.
Congenital dopamine beta-hydroxylase deficiency.
Superti-Furga A, Royce PM, Steinmann B. Superti-Furga A, et al. Among authors: steinmann b. Lancet. 1987 Mar 21;1(8534):693. doi: 10.1016/s0140-6736(87)90466-1. Lancet. 1987. PMID: 2882120 No abstract available.
399 results