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Gene Review

KFM  -  Klippel-Feil malformation

Homo sapiens

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Disease relevance of KFM


Psychiatry related information on KFM


High impact information on KFM


Chemical compound and disease context of KFM


Biological context of KFM


Anatomical context of KFM


Associations of KFM with chemical compounds

  • The receptor antagonists caffeine, the xanthine derivative KFM 19 and the carbamazepine analogue oxcarbazepine displaced [3H]DPCPX binding homogeneously without any marked difference between the individual layers in the investigated hippocampal subregions (n = 4) [24].
  • Antagonism of endogenous adenosine at A1 receptors may thus explain part of the clinical effects of caffeine in humans and possibly exclusively the behavioral effects of KFM 19 in non-human primates [24].

Other interactions of KFM


Analytical, diagnostic and therapeutic context of KFM


  1. Risk assessment of alcohol withdrawal seizures with a Kohonen feature map. Kurth, C., Wegerer, V., Degner, D., Sperling, W., Kornhuber, J., Paulus, W., Bleich, S. Neuroreport (2001) [Pubmed]
  2. Rubral lateropulsion due to vertebral artery dissection in a patient with Klippel-Feil syndrome. Karimi, M., Razavi, M., Fattal, D. Arch. Neurol. (2004) [Pubmed]
  3. Intervertebral disk calcification associated with spine fusion. Dussault, R.G., Kaye, J.J. Radiology. (1977) [Pubmed]
  4. Posterior fossa dermoid cysts and the Klippel-Feil syndrome. Dickey, W., Hawkins, S.A., Kirkpatrick, D.H., McKinstry, C.S., Gray, W.J. J. Neurol. Neurosurg. Psychiatr. (1991) [Pubmed]
  5. Concomitant use of tamoxifen with radiotherapy enhances subcutaneous breast fibrosis in hypersensitive patients. Azria, D., Gourgou, S., Sozzi, W.J., Zouhair, A., Mirimanoff, R.O., Kramar, A., Lemanski, C., Dubois, J.B., Romieu, G., Pelegrin, A., Ozsahin, M. Br. J. Cancer (2004) [Pubmed]
  6. Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. A new syndrome? Kozlowski, K., Sillence, D., Taylor, F. Pediatric radiology. (1993) [Pubmed]
  7. Familial Klippel-Feil syndrome and paracentric inversion inv(8)(q22.2q23.3). Clarke, R.A., Singh, S., McKenzie, H., Kearsley, J.H., Yip, M.Y. Am. J. Hum. Genet. (1995) [Pubmed]
  8. Split cervical spinal cord with Klippel-Feil syndrome: seven cases. David, K.M., Copp, A.J., Stevens, J.M., Hayward, R.D., Crockard, H.A. Brain (1996) [Pubmed]
  9. Mirror movements studied in a patient with Klippel-Feil syndrome. Farmer, S.F., Ingram, D.A., Stephens, J.A. J. Physiol. (Lond.) (1990) [Pubmed]
  10. Mutations in PAX1 may be associated with Klippel-Feil syndrome. McGaughran, J.M., Oates, A., Donnai, D., Read, A.P., Tassabehji, M. Eur. J. Hum. Genet. (2003) [Pubmed]
  11. Severe motor tics causing cervical myelopathy in Tourette's syndrome. Krauss, J.K., Jankovic, J. Mov. Disord. (1996) [Pubmed]
  12. A case of basilar impression complicated with left frontal meningioma. Asamoto, S., Nestler, U., Shulz, C., Böker, D.K. No shinkei geka. Neurological surgery. (2003) [Pubmed]
  13. Symptomatic cervical disc herniation in a pediatric Klippel-Feil patient: the risk of neural injury associated with extensive congenitally fused vertebrae and a hypermobile segment. Samartzis, D., Lubicky, J.P., Herman, J., Kalluri, P., Shen, F.H. Spine (2006) [Pubmed]
  14. Anaesthetic management of caesarean section for a mother with pre-eclampsia, the Klippel-Feil syndrome and congenital hydrocephalus. Burns, A.M., Dorje, P., Lawes, E.G., Nielsen, M.S. British journal of anaesthesia. (1988) [Pubmed]
  15. Congenital limb deficiences associated with Klippel-Feil syndrome: a survey of 57 subjects. Thomsen, M., Kröber, M., Schneider, U., Carstens, C. Acta orthopaedica Scandinavica. (2000) [Pubmed]
  16. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Thomsen, M.N., Schneider, U., Weber, M., Johannisson, R., Niethard, F.U. Spine. (1997) [Pubmed]
  17. Patterned expression in familial Klippel-Feil syndrome. Clarke, R.A., Kearsley, J.H., Walsh, D.A. Teratology (1996) [Pubmed]
  18. Multiple anesthetic challenges in a patient with Klippel-Feil Syndrome undergoing cardiac surgery. Farid, I.S., Omar, O.A., Insler, S.R. J. Cardiothorac. Vasc. Anesth. (2003) [Pubmed]
  19. Klippel-Feil syndrome. Smith, B.A., Griffin, C. Annals of emergency medicine. (1992) [Pubmed]
  20. Removal of an anterior spinal dermoid cyst with fenestra corpectomy in Klippel-Feil syndrome: technical case report. Kaya, R.A., Türkmenoğlu, O., Dalkiliç, T., Aydin, Y. Neurosurgery (2003) [Pubmed]
  21. Prolapse of the mitral valve in Klippel-Feil syndrome. Algom, M., Schlesinger, Z. Chest (1981) [Pubmed]
  22. Congenital neural abnormalities presenting with mirror movements in a patient with Klippel-Feil syndrome. Case report. Whittle, I.R., Besser, M. J. Neurosurg. (1983) [Pubmed]
  23. Cultured mucosal cell sheet with a double layer of keratinocytes and fibroblasts on a collagen membrane. Imaizumi, F., Asahina, I., Moriyama, T., Ishii, M., Omura, K. Tissue engineering. (2004) [Pubmed]
  24. Adenosine A1 receptors in human hippocampus: inhibition of [3H]8-cyclopentyl-1,3-dipropylxanthine binding by antagonist drugs. Deckert, J., Berger, W., Kleopa, K., Heckers, S., Ransmayr, G., Heinsen, H., Beckmann, H., Riederer, P. Neurosci. Lett. (1993) [Pubmed]
  25. Case report: Klippel-Feil syndrome with coexistent hypoparathyroidism. Bhandari, S., Farr, M.J. Am. J. Med. Sci. (1996) [Pubmed]
  26. Bilateral sagittal split mandibular osteotomies as an adjunct to the transoral approach to the anterior craniovertebral junction. Technical note. Vishteh, A.G., Beals, S.P., Joganic, E.F., Reiff, J.L., Dickman, C.A., Sonntag, V.K., Spetzler, R.F. J. Neurosurg. (1999) [Pubmed]
  27. Frontonasal dysplasia in the Klippel-Feil syndrome: a new associated malformation. Fragoso, R., Cid-García, A., Hernández, A., Nazará, Z., Cantú, J.M. Clin. Genet. (1982) [Pubmed]
  28. Aural abnormalities in Klippel-Feil syndrome. Ohtani, I., Dubois, C.N. The American journal of otology. (1985) [Pubmed]
  29. Klippel-Feil syndrome and conductive deafness. Stewart, E.J., O'Reilly, B.F. The Journal of laryngology and otology. (1989) [Pubmed]
  30. Anaesthesia for caesarean section in a patient with Klippel-Feil syndrome. The use of a microspinal catheter. Dresner, M.R., Maclean, A.R. Anaesthesia. (1995) [Pubmed]
  31. Thoracic epidural anesthesia for bilateral reduction mammoplasty in a patient with Klippel-Feil syndrome. O'Connor, P.J., Moysa, G.L., Finucane, B.T. Anesth. Analg. (2001) [Pubmed]
  32. Genitourinary anomalies associated with Klippel-Feil syndrome. Moore, W.B., Matthews, T.J., Rabinowitz, R. The Journal of bone and joint surgery. American volume. (1975) [Pubmed]
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