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MeSH Review

Chondrodysplasia Punctata

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Disease relevance of Chondrodysplasia Punctata


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Chemical compound and disease context of Chondrodysplasia Punctata


Biological context of Chondrodysplasia Punctata


Anatomical context of Chondrodysplasia Punctata


Gene context of Chondrodysplasia Punctata


Analytical, diagnostic and therapeutic context of Chondrodysplasia Punctata


  1. A cluster of sulfatase genes on Xp22.3: mutations in chondrodysplasia punctata (CDPX) and implications for warfarin embryopathy. Franco, B., Meroni, G., Parenti, G., Levilliers, J., Bernard, L., Gebbia, M., Cox, L., Maroteaux, P., Sheffield, L., Rappold, G.A. Cell (1995) [Pubmed]
  2. Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme. Heikoop, J.C., van Roermund, C.W., Just, W.W., Ofman, R., Schutgens, R.B., Heymans, H.S., Wanders, R.J., Tager, J.M. J. Clin. Invest. (1990) [Pubmed]
  3. Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti. Das, S., Metzenberg, A., Pai, G.S., Gitschier, J. Am. J. Hum. Genet. (1994) [Pubmed]
  4. The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. Has, C., Bruckner-Tuderman, L., Müller, D., Floeth, M., Folkers, E., Donnai, D., Traupe, H. Hum. Mol. Genet. (2000) [Pubmed]
  5. Léri-Weill syndrome as part of a contiguous gene syndrome at Xp22.3. Spranger, S., Schiller, S., Jauch, A., Wolff, K., Rauterberg-Ruland, I., Hager, D., Tariverdian, G., Tröger, J., Rappold, G. Am. J. Med. Genet. (1999) [Pubmed]
  6. Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. Derry, J.M., Gormally, E., Means, G.D., Zhao, W., Meindl, A., Kelley, R.I., Boyd, Y., Herman, G.E. Nat. Genet. (1999) [Pubmed]
  7. Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndrome. Braverman, N., Lin, P., Moebius, F.F., Obie, C., Moser, A., Glossmann, H., Wilcox, W.R., Rimoin, D.L., Smith, M., Kratz, L., Kelley, R.I., Valle, D. Nat. Genet. (1999) [Pubmed]
  8. Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome. Ballabio, A., Bardoni, B., Carrozzo, R., Andria, G., Bick, D., Campbell, L., Hamel, B., Ferguson-Smith, M.A., Gimelli, G., Fraccaro, M. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  9. Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. Herman, G.E. Hum. Mol. Genet. (2003) [Pubmed]
  10. The human protein kinase gene PKX1 on Xp22.3 displays Xp/Yp homology and is a site of chromosomal instability. Klink, A., Schiebel, K., Winkelmann, M., Rao, E., Horsthemke, B., Lüdecke, H.J., Claussen, U., Scherer, G., Rappold, G. Hum. Mol. Genet. (1995) [Pubmed]
  11. Cloning of an emopamil-binding protein (EBP)-like protein that lacks sterol delta8-delta7 isomerase activity. Moebius, F.F., Fitzky, B.U., Wietzorrek, G., Haidekker, A., Eder, A., Glossmann, H. Biochem. J. (2003) [Pubmed]
  12. Management of deep venous thrombosis and pulmonary embolism during pregnancy. Tawes, R.L., Kennedy, P.A., Harris, E.J., Brown, W.H., Scribner, R.G., Sydorak, G.R., Beare, J.P. Am. J. Surg. (1982) [Pubmed]
  13. Chondrodysplasia punctata (CDP) with features of the tibia-metacarpal type and maternal phenytoin treatment during pregnancy. Wester, U., Brandberg, G., Larsson, M., Lönnerholm, T., Annerén, G. Prenat. Diagn. (2002) [Pubmed]
  14. Genetically transmitted, generalized disorders of cornification. The ichthyoses. Williams, M.L., Elias, P.M. Dermatologic clinics. (1987) [Pubmed]
  15. Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. Bick, D.P., Schorderet, D.F., Price, P.A., Campbell, L., Huff, R.W., Shapiro, L.J., Moore, C.M. Prenat. Diagn. (1992) [Pubmed]
  16. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Daniele, A., Parenti, G., d'Addio, M., Andria, G., Ballabio, A., Meroni, G. Am. J. Hum. Genet. (1998) [Pubmed]
  17. Close linkage of the murine locus bare patches to the X-linked visual pigment gene: implications for mapping human X-linked dominant chondrodysplasia punctata. Herman, G.E., Walton, S.J. Genomics (1990) [Pubmed]
  18. Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata. Shirahama, S., Miyahara, A., Kitoh, H., Honda, A., Kawase, A., Yamada, K., Mabuchi, A., Kura, H., Yokoyama, Y., Tsutsumi, M., Ikeda, T., Tanaka, N., Nishimura, G., Ohashi, H., Ikegawa, S. Hum. Genet. (2003) [Pubmed]
  19. Heterozygous expression of X-linked chondrodysplasia punctata. Complex chromosome aberration including deletion of MIC2 and STS. Wöhrle, D., Barbi, G., Schulz, W., Steinbach, P. Hum. Genet. (1990) [Pubmed]
  20. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. Parenti, G., Buttitta, P., Meroni, G., Franco, B., Bernard, L., Rizzolo, M.G., Brunetti-Pierri, N., Ballabio, A., Andria, G. Am. J. Med. Genet. (1997) [Pubmed]
  21. Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts. Heikoop, J.C., Ossendorp, B.C., Wanders, R.J., Wirtz, K.W., Tager, J.M. FEBS Lett. (1992) [Pubmed]
  22. PTS2 protein import into mammalian peroxisomes. Legakis, J.E., Terlecky, S.R. Traffic (2001) [Pubmed]
  23. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Puca, A.A., Zollo, M., Repetto, M., Andolfi, G., Guffanti, A., Simon, G., Ballabio, A., Franco, B. Genomics (1997) [Pubmed]
  24. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. König, A., Happle, R., Bornholdt, D., Engel, H., Grzeschik, K.H. Am. J. Med. Genet. (2000) [Pubmed]
  25. Refinement of the locus for X-linked recessive chondrodysplasia punctata. Muroya, K., Ogata, T., Rappold, G., Klink, A., Nakahori, Y., Fukushima, Y., Aizu, K., Matsuo, N. Hum. Genet. (1995) [Pubmed]
  26. Genetic and physical mapping of the biglycan gene on the mouse X chromosome. Chatterjee, A., Faust, C.J., Herman, G.E. Mamm. Genome (1993) [Pubmed]
  27. Genetic heterogeneity of peroxisome biogenesis disorders among Japanese patients: evidence for a founder haplotype for the most common PEX10 gene mutation. Shimozawa, N., Nagase, T., Takemoto, Y., Ohura, T., Suzuki, Y., Kondo, N. Am. J. Med. Genet. A (2003) [Pubmed]
  28. Fine mapping of the human biglycan (BGN) gene within the Xq28 region employing a hybrid cell panel. Traupe, H., van den Ouweland, A.M., van Oost, B.A., Vogel, W., Vetter, U., Warren, S.T., Rocchi, M., Darlison, M.G., Ropers, H.H. Genomics (1992) [Pubmed]
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