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Gene Review

GUST  -  Gustavson mental retardation syndrome...

Homo sapiens

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  1. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Delettre, C., Lenaers, G., Griffoin, J.M., Gigarel, N., Lorenzo, C., Belenguer, P., Pelloquin, L., Grosgeorge, J., Turc-Carel, C., Perret, E., Astarie-Dequeker, C., Lasquellec, L., Arnaud, B., Ducommun, B., Kaplan, J., Hamel, C.P. Nat. Genet. (2000) [Pubmed]
  2. Wolfram (DIDMOAD) syndrome. Barrett, T.G., Bundey, S.E. J. Med. Genet. (1997) [Pubmed]
  3. The mitochondrial 13513G>A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. Ruiter, E.M., Siers, M.H., van den Elzen, C., van Engelen, B.G., Smeitink, J.A., Rodenburg, R.J., Hol, F.A. Eur. J. Hum. Genet. (2007) [Pubmed]
  4. A variant of the "DIDMOAD" syndrome (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). Friedman, E., Blau, A., Farfel, Z. Clin. Genet. (1986) [Pubmed]
  5. Sarcoid masquerading as optic nerve sheath meningioma. Ing, E.B., Garrity, J.A., Cross, S.A., Ebersold, M.J. Mayo Clin. Proc. (1997) [Pubmed]
  6. A study of certain traits accompanying some inherted neurological disorders. Skre, H. Clin. Genet. (1975) [Pubmed]
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  9. Optic atrophy, hearing loss, and peripheral neuropathy. Hagemoser, K., Weinstein, J., Bresnick, G., Nellis, R., Kirkpatrick, S., Pauli, R.M. Am. J. Med. Genet. (1989) [Pubmed]
  10. Ocular findings in childhood lactic acidosis. Hayasaka, S., Yamaguchi, K., Mizuno, K., Miyabayashi, S., Narisawa, K., Tada, K. Arch. Ophthalmol. (1986) [Pubmed]
  11. Growth retardation, alopecia, pseudo-anodontia, and optic atrophy--the GAPO syndrome: report of a patient and review of the literature. Tipton, R.E., Gorlin, R.J. Am. J. Med. Genet. (1984) [Pubmed]
  12. A Novel OPA1 Mutation Responsible for Autosomal Dominant Optic Atrophy with High Frequency Hearing Loss in a Chinese Family. Chen, S., Zhang, Y., Wang, Y., Li, W., Huang, S., Chu, X., Wang, L., Zhang, M., Liu, Z. Am. J. Ophthalmol. (2007) [Pubmed]
  13. Optic atrophy following repeated courses of tartar emetic for the treatment of bilharziasis. Kassem, A., Hussein, H.A., Abaza, H., Sabry, N. Bulletin of the Ophthalmological Society of Egypt. (1976) [Pubmed]
  14. Optic atrophy with visual field defect in a worker occupationally exposed to lead for 30 years. Karai, I., Horiguchi, S., Nishikawa, N. J. Toxicol. Clin. Toxicol. (1982) [Pubmed]
  15. Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations. Cohn, A.C., Toomes, C., Potter, C., Towns, K.V., Hewitt, A.W., Inglehearn, C.F., Craig, J.E., Mackey, D.A. Am. J. Ophthalmol. (2007) [Pubmed]
  16. Optic atrophy treated with acupuncture. Wu, Z.S., Ye, X.L. Journal of traditional Chinese medicine = Chung i tsa chih ying wen pan / sponsored by All-China Association of Traditional Chinese Medicine, Academy of Traditional Chinese Medicine. (1989) [Pubmed]
  17. Pallor of the optic disc in children. Ouvrier, R.A. Australian and New Zealand journal of ophthalmology. (1990) [Pubmed]
  18. Optic atrophy, microcephaly, mental retardation and mosaic variegated aneuploidy: a human mitotic mutation. Bitoun, P., Martin-Pont, B., Tamboise, E., Gaudelus, J. Ann. Genet. (1994) [Pubmed]
  19. Ophthalmological findings in patients with spinocerebellar ataxia type 1 are not correlated with neurological anticipation. Abe, T., Abe, K., Tsuda, T., Itoyama, Y., Tamai, M. Graefes Arch. Clin. Exp. Ophthalmol. (2001) [Pubmed]
  20. Predictors of long-term neurological sequelae of tuberculous meningitis: a multivariate analysis. Kalita, J., Misra, U.K., Ranjan, P. Eur. J. Neurol. (2007) [Pubmed]
  21. Ophthalmic findings in GAPO syndrome. Ilker, S.S., Oztürk, F., Kurt, E., Temel, M., Gül, D., Sayli, B.S. Jpn. J. Ophthalmol. (1999) [Pubmed]
  22. Optic atrophy, diabetes mellitus, hypothlamic dysfunction and a small sella turcica. Hyams, S.W., Adar, H., Friedman, E. J. Pediatr. Ophthalmol. (1977) [Pubmed]
  23. Optic atrophy in Wolfram (DIDMOAD) syndrome. Barrett, T.G., Bundey, S.E., Fielder, A.R., Good, P.A. Eye (London, England) (1997) [Pubmed]
  24. Optic atrophy and cerebral infarcts caused by methanol intoxication: MRI. Hsu, H.H., Chen, C.Y., Chen, F.H., Lee, C.C., Chou, T.Y., Zimmerman, R.A. Neuroradiology. (1997) [Pubmed]
  25. Optic atrophy after propoxyphene overdose: report of a case. Weiss, I.S. Annals of ophthalmology. (1982) [Pubmed]
  26. Optic atrophy after irrigation of the lacrimal ducts with chloramphenicol. Rothkoff, L., Biedner, B., Shoham, K., Blumenthal, M. Annals of ophthalmology. (1979) [Pubmed]
  27. Modifying factors related to asymmetric diabetic retinopathy. Dogru, M., Inoue, M., Nakamura, M., Yamamoto, M. Eye (London, England) (1998) [Pubmed]
  28. Wolfram (DIDMOAD) syndrome: report of two patients. Lin, C.H., Lee, Y.J., Huang, C.Y., Shieh, J.W., Lin, H.C., Wang, A.M., Shih, B.F. Journal of pediatric endocrinology & metabolism : JPEM. (2004) [Pubmed]
  29. Optic atrophy in Marinesco-Sjögren syndrome: an additional ocular feature. Report of three cases in two families. Dotti, M.T., Bardelli, A.M., De Stefano, N., Federico, A., Malandrini, A., Vanni, M., Guazzi, G.C. Ophthalmic paediatrics and genetics. (1993) [Pubmed]
  30. Delayed-Onset Craniosynostosis. Concerning the Article by O'Hara et al: Case Report of Optic Atrophy in Pansynostosis: An Unusual Presentation of Scalp Edema from Hair Braiding (Pediatr Neurosurg 2006;42: 100-104). Mart??nez-Lage, J.F. Pediatric neurosurgery (2007) [Pubmed]
  31. Optic atrophy. Differential diagnosis by fundus observation alone. Trobe, J.D., Glaser, J.S., Cassady, J.C. Arch. Ophthalmol. (1980) [Pubmed]
  32. Optic atrophy following prophylactic chemotherapy and cranial radiation for acute lymphocytic leukemia. Fishman, M.L., Bean, S.C., Cogan, D.G. Am. J. Ophthalmol. (1976) [Pubmed]
  33. Conjunctival biopsy in infantile neuroaxonal dystrophy. Ferreira, R.C., Mierau, G.W., Bateman, J.B. Am. J. Ophthalmol. (1997) [Pubmed]
  34. Optic atrophy following jejunoileal bypass. Haag, J.R., Smith, J.L., Susac, J.O., Byrne, S.F. Journal of clinical neuro-ophthalmology. (1985) [Pubmed]
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