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MeSH Review

Septo-Optic Dysplasia

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Disease relevance of Septo-Optic Dysplasia


High impact information on Septo-Optic Dysplasia


Chemical compound and disease context of Septo-Optic Dysplasia


Biological context of Septo-Optic Dysplasia


Anatomical context of Septo-Optic Dysplasia


Gene context of Septo-Optic Dysplasia


  1. Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation. Schuelke, M., Krude, H., Finckh, B., Mayatepek, E., Janssen, A., Schmelz, M., Trefz, F., Trijbels, F., Smeitink, J. Ann. Neurol. (2002) [Pubmed]
  2. Is the thyrotropin-releasing hormone test necessary in the diagnosis of central hypothyroidism in children. Mehta, A., Hindmarsh, P.C., Stanhope, R.G., Brain, C.E., Preece, M.A., Dattani, M.T. J. Clin. Endocrinol. Metab. (2003) [Pubmed]
  3. Optic nerve morphology may reveal adverse events during prenatal and perinatal life--digital image analysis. Hellström, A. Survey of ophthalmology. (1999) [Pubmed]
  4. Septo-optic dysplasia as a manifestation of valproic acid embryopathy. McMahon, C.L., Braddock, S.R. Teratology (2001) [Pubmed]
  5. Developmental neurogenetics and neuro-ophthalmology. Bennett, J.L. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society. (2002) [Pubmed]
  6. Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Dattani, M.T., Martinez-Barbera, J.P., Thomas, P.Q., Brickman, J.M., Gupta, R., Mårtensson, I.L., Toresson, H., Fox, M., Wales, J.K., Hindmarsh, P.C., Krauss, S., Beddington, R.S., Robinson, I.C. Nat. Genet. (1998) [Pubmed]
  7. Heterozygous HESX1 mutations associated with isolated congenital pituitary hypoplasia and septo-optic dysplasia. Thomas, P.Q., Dattani, M.T., Brickman, J.M., McNay, D., Warne, G., Zacharin, M., Cameron, F., Hurst, J., Woods, K., Dunger, D., Stanhope, R., Forrest, S., Robinson, I.C., Beddington, R.S. Hum. Mol. Genet. (2001) [Pubmed]
  8. Septo-optic dysplasia and WS1 in the proband of a WS1 family segregating for a novel mutation in PAX3 exon 7. Carey, M.L., Friedman, T.B., Asher, J.H., Innis, J.W. J. Med. Genet. (1998) [Pubmed]
  9. Arrhythmicity in a child with septo-optic dysplasia and establishment of sleep-wake cyclicity with melatonin. Rivkees, S.A. J. Pediatr. (2001) [Pubmed]
  10. Growth hormone deficiency of hypothalamic origin in septo-optic dysplasia. Yukizane, S., Kimura, Y., Yamashita, Y., Matsuishi, T., Horikawa, H., Ando, H., Yamashita, F. Eur. J. Pediatr. (1990) [Pubmed]
  11. Multiple pituitary hormone deficiency: management of puberty for optimal auxological results. Stanhope, R., De Luca, F., Delemarre-Van de Waal, H.A., Liotta, A., Norjavaara, E., Salvatoni, A., Wu, F. Journal of pediatric endocrinology & metabolism : JPEM. (2001) [Pubmed]
  12. The molecular basis for developmental disorders of the pituitary gland in man. Dattani, M.T., Robinson, I.C. Clin. Genet. (2000) [Pubmed]
  13. Magnetic resonance imaging of pituitary stalk hypoplasia. A discrete midline anomaly associated with endocrine abnormalities in septo-optic dysplasia. Kaufman, L.M., Miller, M.T., Mafee, M.F. Arch. Ophthalmol. (1989) [Pubmed]
  14. Craniotelencephalic dysplasia in sisters: further delineation of a possible syndrome. Hughes, H.E., Harwood-Nash, D.C., Becker, L.E. Am. J. Med. Genet. (1983) [Pubmed]
  15. Mutation analysis of POUF-1, PROP-1 and HESX-1 show low frequency of mutations in children with sporadic forms of combined pituitary hormone deficiency and septo-optic dysplasia. Rainbow, L.A., Rees, S.A., Shaikh, M.G., Shaw, N.J., Cole, T., Barrett, T.G., Kirk, J.M. Clin. Endocrinol. (Oxf) (2005) [Pubmed]
  16. Neuroendocrine study of a male infant with septo-optic dysplasia. Sirota, L., Dickerman, Z., Laron, Z., Weitz, R., Dulitzky, F. Isr. J. Med. Sci. (1985) [Pubmed]
  17. Growth hormone treatment in the United States: demographic and diagnostic features of 2331 children. August, G.P., Lippe, B.M., Blethen, S.L., Rosenfeld, R.G., Seelig, S.A., Johanson, A.J., Compton, P.G., Frane, J.W., McClellan, B.H., Sherman, B.M. J. Pediatr. (1990) [Pubmed]
  18. The clinical, neuroradiographic, and endocrinologic profile of patients with bilateral optic nerve hypoplasia. Siatkowski, R.M., Sanchez, J.C., Andrade, R., Alvarez, A. Ophthalmology (1997) [Pubmed]
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