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MeSH Review

Ectopia Lentis

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Disease relevance of Ectopia Lentis


High impact information on Ectopia Lentis


Chemical compound and disease context of Ectopia Lentis


Biological context of Ectopia Lentis

  • FBN1 mutations have been found not only in MFS but also in a range of connective tissue disorders collectively termed fibrillinopathies ranging from mild phenotypes, such as isolated ectopia lentis, to severe disorders including neonatal MFS, which generally leads to death within the first two years of life [15].

Anatomical context of Ectopia Lentis


Gene context of Ectopia Lentis


  1. Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism. Shih, V.E., Abroms, I.F., Johnson, J.L., Carney, M., Mandell, R., Robb, R.M., Cloherty, J.P., Rajagopalan, K.V. N. Engl. J. Med. (1977) [Pubmed]
  2. Reduction of false negative results in screening of newborns for homocystinuria. Peterschmitt, M.J., Simmons, J.R., Levy, H.L. N. Engl. J. Med. (1999) [Pubmed]
  3. Mitral valve dimensions and motion in Marfan patients with and without mitral valve prolapse. Comparison to primary mitral valve prolapse and normal subjects. Pini, R., Roman, M.J., Kramer-Fox, R., Devereux, R.B. Circulation (1989) [Pubmed]
  4. A new skeletal dysplasia: clinical, radiologic, and pathologic findings. Burton, B.K., Sumner, T., Langer, L.O., Rimoin, D.L., Adomian, G.E., Lachman, R.S., Nicastro, J.F., Kelly, D.L., Weaver, R.G. J. Pediatr. (1986) [Pubmed]
  5. Strabismus in the Marfan syndrome. Izquierdo, N.J., Traboulsi, E.I., Enger, C., Maumenee, I.H. Am. J. Ophthalmol. (1994) [Pubmed]
  6. Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes. Schrijver, I., Liu, W., Brenn, T., Furthmayr, H., Francke, U. Am. J. Hum. Genet. (1999) [Pubmed]
  7. A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype. Shih, V.E., Fringer, J.M., Mandell, R., Kraus, J.P., Berry, G.T., Heidenreich, R.A., Korson, M.S., Levy, H.L., Ramesh, V. Am. J. Hum. Genet. (1995) [Pubmed]
  8. Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome. Loeys, B., Nuytinck, L., Delvaux, I., De Bie, S., De Paepe, A. Arch. Intern. Med. (2001) [Pubmed]
  9. Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome. Ganesh, A., Smith, C., Chan, W., Unger, S., Quercia, N., Godfrey, M., Kraft, S., Buncic, R., Levin, A. Arch. Ophthalmol. (2006) [Pubmed]
  10. Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance. Quercia, N.L., Teebi, A.S. Am. J. Med. Genet. (2002) [Pubmed]
  11. Homocystinuria: pathogenetic mechanisms. Grieco, A.J. Am. J. Med. Sci. (1977) [Pubmed]
  12. Emergency use of pilocarpine and pupil block glaucoma in ectopia lentis. Madill, S.A., Bain, K.E., Patton, N., Bennett, H., Singh, J. Eye (London, England) (2005) [Pubmed]
  13. Delay in diagnosis of homocystinuria: retrospective study of consecutive patients. Cruysberg, J.R., Boers, G.H., Trijbels, J.M., Deutman, A.F. BMJ (1996) [Pubmed]
  14. Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome. Rommel, K., Karck, M., Haverich, A., von Kodolitsch, Y., Rybczynski, M., Müller, G., Singh, K.K., Schmidtke, J., Arslan-Kirchner, M. Hum. Mutat. (2005) [Pubmed]
  15. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Robinson, P.N., Booms, P., Katzke, S., Ladewig, M., Neumann, L., Palz, M., Pregla, R., Tiecke, F., Rosenberg, T. Hum. Mutat. (2002) [Pubmed]
  16. Management of ectopia lentis in a family with Marfan syndrome. Koenig, S.B., Mieler, W.F. Arch. Ophthalmol. (1996) [Pubmed]
  17. Weill-Marchesani syndrome and secondary glaucoma associated with ectopia lentis. Chu, B.S. Clinical & experimental optometry : journal of the Australian Optometrical Association. (2006) [Pubmed]
  18. The molecular genetics of cardiovascular disease. Anderson, P.A. Curr. Opin. Cardiol. (1995) [Pubmed]
  19. Retinitis pigmentosa associated with ectopia lentis. Sato, H., Wada, Y., Abe, T., Kawamura, M., Wakusawa, R., Tamai, M. Arch. Ophthalmol. (2002) [Pubmed]
  20. Scleral suspension pars-plana lensectomy for ectopia lentis followed by suture fixation of intraocular lens. Mitra, S., Ganesh, A. Indian journal of ophthalmology. (2001) [Pubmed]
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