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MeSH Review

Langer-Giedion Syndrome

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Disease relevance of Langer-Giedion Syndrome


High impact information on Langer-Giedion Syndrome


Chemical compound and disease context of Langer-Giedion Syndrome


Biological context of Langer-Giedion Syndrome


Anatomical context of Langer-Giedion Syndrome


Gene context of Langer-Giedion Syndrome


Analytical, diagnostic and therapeutic context of Langer-Giedion Syndrome


  1. A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I. Sasaki, T., Tonoki, H., Soejima, H., Niikawa, N. J. Med. Genet. (1997) [Pubmed]
  2. Autosomal-dominant branchio-otic (BO) syndrome is not allelic to the branchio-oto-renal (BOR) gene at 8q13. Kumar, S., Marres, H.A., Cremers, C.W., Kimberling, W.J. Am. J. Med. Genet. (1998) [Pubmed]
  3. Tetraparesis due to exostotic osteochondroma at upper cervical cord in a patient with multiple exostoses-mental retardation syndrome (Langer-Giedion syndrome). Miyamoto, K., Sakaguchi, Y., Hosoe, H., Mori, A., Yamazaki, S., Hattori, S., Shimizu, K. Spinal Cord (2005) [Pubmed]
  4. Lunatomalacia associated with congenital shortening of the ulna in Langer-Giedion syndrome: a case report. Schuind, F.A., Schiedts, D., Fumiere, E., Pasteels, J.L., Burny, F. The Journal of hand surgery. (1997) [Pubmed]
  5. Autosomal mendelian disorders and microcytogenetics. de Grouchy, J., Turleau, C. Recenti progressi in medicina. (1990) [Pubmed]
  6. Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). Ahn, J., Lüdecke, H.J., Lindow, S., Horton, W.A., Lee, B., Wagner, M.J., Horsthemke, B., Wells, D.E. Nat. Genet. (1995) [Pubmed]
  7. Abnormal expression of vimentin intermediate filaments in human lymphoid cell lines with deletion or translocation of the distal end of chromosome 8. Dellagi, K., Brouet, J.C., Portier, M.M., Lenoir, G.M. J. Natl. Cancer Inst. (1984) [Pubmed]
  8. Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Lüdecke, H.J., Johnson, C., Wagner, M.J., Wells, D.E., Turleau, C., Tommerup, N., Latos-Bielenska, A., Sandig, K.R., Meinecke, P., Zabel, B. Am. J. Hum. Genet. (1991) [Pubmed]
  9. Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Lüdecke, H.J., Wagner, M.J., Nardmann, J., La Pillo, B., Parrish, J.E., Willems, P.J., Haan, E.A., Frydman, M., Hamers, G.J., Wells, D.E. Hum. Mol. Genet. (1995) [Pubmed]
  10. Chromosomal localization of the human and mouse hyaluronan synthase genes. Spicer, A.P., Seldin, M.F., Olsen, A.S., Brown, N., Wells, D.E., Doggett, N.A., Itano, N., Kimata, K., Inazawa, J., McDonald, J.A. Genomics (1997) [Pubmed]
  11. Langer-Giedion syndrome associated with scimitar syndrome. Sinzig, M., Scheer, J., Willi, U.V. Pediatric radiology. (1999) [Pubmed]
  12. Integrity of the thyroglobulin locus in tricho-rhino-phalangeal syndrome II. Brocas, H., Bühler, E.M., Simon, P., Malik, N.J., Vassart, G. Hum. Genet. (1986) [Pubmed]
  13. BMP-1 sublocalization on human chromosome 8. Molecular anatomy and orthopaedic implications. Shore, E.M., Cook, A.L., Hahn, G.V., Kaplan, F.S., Wozney, J.M., Wagner, M.J., Wells, D.E. Clin. Orthop. Relat. Res. (1995) [Pubmed]
  14. Mapping of the bone morphogenetic protein 1 gene (BMP1) to 8p21: removal of BMP1 from candidacy for the bone disorder in Langer-Giedion syndrome. Yoshiura, K., Tamura, T., Hong, H.S., Ohta, T., Soejima, H., Kishino, T., Jinno, Y., Niikawa, N. Cytogenet. Cell Genet. (1993) [Pubmed]
  15. Pronounced short stature in a girl with tricho-rhino-phalangeal syndrome II (TRPS II, Langer-Giedion syndrome) and growth hormone deficiency. Riedl, S., Giedion, A., Schweitzer, K., Müllner-Eidenböck, A., Grill, F., Frisch, H., Lüdecke, H.J. Am. J. Med. Genet. A (2004) [Pubmed]
  16. The tricho-rhino-phalangeal syndromes: frequency and parental origin of 8q deletions. Nardmann, J., Tranebjaerg, L., Horsthemke, B., Lüdecke, H.J. Hum. Genet. (1997) [Pubmed]
  17. Terminal or interstitial deletion in chromosome 8 long arm in Langer-Giedion syndrome (TRP II syndrome)? Bühler, E.M., Bühler, U.K., Christen, R. Hum. Genet. (1983) [Pubmed]
  18. Tibial hemimelia in Langer-Giedion syndrome-possible gene location for tibial hemimelia at 8q. Stevens, C.A., Moore, C.A. Am. J. Med. Genet. (1999) [Pubmed]
  19. Langer-Giedion syndrome associated with submucous cleft palate. Morioka, D., Suse, T., Shimizu, Y., Ohkubo, F., Hosaka, Y. Plast. Reconstr. Surg. (1999) [Pubmed]
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