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Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein.
Brunkow ME, Gardner JC, Van Ness J, Paeper BW, Kovacevich BR, Proll S, Skonier JE, Zhao L, Sabo PJ, Fu Y, Alisch RS, Gillett L, Colbert T, Tacconi P, Galas D, Hamersma H, Beighton P, Mulligan J. Brunkow ME, et al. Among authors: tacconi p. Am J Hum Genet. 2001 Mar;68(3):577-89. doi: 10.1086/318811. Epub 2001 Feb 9. Am J Hum Genet. 2001. PMID: 11179006 Free PMC article.
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST).
Balemans W, Ebeling M, Patel N, Van Hul E, Olson P, Dioszegi M, Lacza C, Wuyts W, Van Den Ende J, Willems P, Paes-Alves AF, Hill S, Bueno M, Ramos FJ, Tacconi P, Dikkers FG, Stratakis C, Lindpaintner K, Vickery B, Foernzler D, Van Hul W. Balemans W, et al. Among authors: tacconi p. Hum Mol Genet. 2001 Mar 1;10(5):537-43. doi: 10.1093/hmg/10.5.537. Hum Mol Genet. 2001. PMID: 11181578
Sclerosteosis: report of a case in a black African man.
Tacconi P, Ferrigno P, Cocco L, Cannas A, Tamburini G, Bergonzi P, Giagheddu M. Tacconi P, et al. Clin Genet. 1998 Jun;53(6):497-501. doi: 10.1111/j.1399-0004.1998.tb02603.x. Clin Genet. 1998. PMID: 9712543
Cerebral toxoplasmosis in AIDS. Case report.
Costa B, Tacconi P, Cannas A, Pinna L, Fiaschi A. Costa B, et al. Among authors: tacconi p. Ital J Neurol Sci. 1988 Apr;9(2):161-3. doi: 10.1007/BF02337464. Ital J Neurol Sci. 1988. PMID: 3397271
Visual evoked potentials in hypothyroidism: a long-term evaluation.
Tamburini G, Tacconi P, Ferrigno P, Cannas A, Massa GM, Mastinu R, Velluzzi F, Loviselli A, Giagheddu M. Tamburini G, et al. Among authors: tacconi p. Electromyogr Clin Neurophysiol. 1998 Jun;38(4):201-5. Electromyogr Clin Neurophysiol. 1998. PMID: 9651692
Comparison of MRI, EEG, EPs and ECD-SPECT in Wilson's disease.
Giagheddu M, Tamburini G, Piga M, Tacconi P, Giagheddu A, Serra A, Siotto P, Satta L, Demelia L, Marrosu F. Giagheddu M, et al. Among authors: tacconi p. Acta Neurol Scand. 2001 Feb;103(2):71-81. doi: 10.1034/j.1600-0404.2001.103002071.x. Acta Neurol Scand. 2001. PMID: 11227135
45 results