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  • Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. 2010. A method and server for predicting damaging missense mutations. Nat Methods 7:248249.
  • Desbuquois G, Rossignol C. 1966. Ampicillin sachets: broad spectrum infantile penicillin. Annales de pediatrie 13:7880.
  • Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. 2009. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67.
  • Faden M, Al-Zahrani F, Arafah D, Alkuraya FS. 2010. Mutation of CANT1 causes Desbuquois dysplasia. Am J Med Genet 152A:11571160.
  • Faivre L, Le Merrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V. 2004. Clinical and genetic heterogeneity in Desbuquois dysplasia. Am J Med Genet 128A:2932.
  • Furuichi T, Dai J, Cho TJ, Sakazume S, Ikema M, Matsui Y, Baynam G, Nagai T, Miyake N, Matsumoto N et al. 2011. CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. J Med Genet 48:3237.
  • Harper GS, Hascall VC, Yanagishita M, Gahl WA. 1987. Proteoglycan synthesis in normal and Lowe syndrome fibroblasts. J Biol Chem 262:56375643.
  • Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafe L, Boccone L, Setzu V, Dutoit M, Sangiorgi L et al. 2008. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet 82:13681374.
  • Huber C, Oules B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP et al. 2009. Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet 85:706710.
  • Kim OH, Nishimura G, Song HR, Matsui Y, Sakazume S, Yamada M, Narumi Y, Alanay Y, Unger S, Cho TJ et al. 2010. A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases. Am J Med Genet 152A:875885.
  • Laccone F, Schoner K, Krabichler B, Kluge B, Schwerdtfeger R, Schulze B, Zschocke J, Rehder H. 2011. Desbuquois dysplasia type I and fetal hydrops due to novel mutations in the CANT1 gene. Euro J Hum Genet 19:11331137.
  • Le Merrer M, Young ID, Stanescu V, Maroteaux P. 1991. Desbuquois syndrome. Eur J Pediatr 150:793796.
  • Robinson HC, Brett MJ, Tralaggan PJ, Lowther DA, Okayama M. 1975. The effect of D-xylose, beta-D-xylosides and beta-D-galactosides on chondroitin sulphate biosynthesis in embryonic chicken cartilage. Biochem J 148:2534.
  • Rossi A, Kaitila I, Wilcox WR, Rimoin DL, Steinmann B, Cetta G, Superti-Furga A. 1998. Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production. Matrix Biol 17:361369.
  • Sobue M, Habuchi H, Ito K, Yonekura H, Oguri K, Sakurai K, Kamohara S, Ueno Y, Noyori R, Suzuki S. 1987. beta-D-xylosides and their analogues as artificial initiators of glycosaminoglycan chain synthesis. Aglycone-related variation in their effectiveness in vitro and in ovo. Biochem J 241:591601.
  • Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S. 2004. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci USA 101:1015510160.
  • Unger S, Lausch E, Rossi A, Megarbane A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B et al. 2010. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet 152A:2543259.
  • van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP. 2008. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am J Med Genet 146A:23762384.
  • Vigetti D, Genasetti A, Karousou E, Viola M, Clerici M, Bartolini B, Moretto P, De Luca G, Hascall VC, Passi A. 2009. Modulation of hyaluronan synthase activity in cellular membrane fractions. J Biol Chem 284:30684-30694.
  • Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M, Mortier G, Mundlos S, Nishimura G, Rimoin DL et al. 2011. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J med Genet 155A:943968.