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Fragilt X-syndrom

Senast uppdaterad: Publicerad:
Sakkunnig:
  1. Neri G, Opitz JM. Sixty years of X-linked mental retardation: a historical footnote. Am J Med Genet 2000; 97: 228-33. PubMed  
  2. Warren ST, Nelson DL. Advances in molecular analysis of fragile X syndrome. JAMA 1994; 271: 536-42. Journal of the American Medical Association  
  3. Wattendorf DJ, Muenke M. Diagnosis and management of fragile X syndrome. Am Fam Physician 2005; 72: 111-3. PubMed  
  4. Brown WT. Perspectives and molecular diagnosis of the fragile X syndrome. Clin Lab Med 1995; 15: 859-75. PubMed  
  5. Weinhausel A, Haas OA. Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR. Hum Genet 2001; 108: 450-8. PubMed  
  6. Oostra BA, Halley DJ. Complex behavior of simple repeats: the fragile X syndrome. Pediatr Res 1995; 38: 629-37. PubMed  
  7. Kenneson A, Warren ST. The female and the fragile X reviewed. Semin Reprod Med 2001; 19: 159-65. PubMed  
  8. Hessl D, Dyer-Friedman J, Glaser B, Wisbeck J, Barajas RG et al. The Influence of Environmental and Genetic Factors on Behavior Problems and Autistic Symptoms in Boys and Girls With Fragile X Syndrome. Pediatrics 2001; 108.
  9. Baumgardner TL, Reiss AL, Freund LS, Abrams MT. Specification of the neurobehavioral phenotype in males with fragile X syndrome. Pediatrics 1995; 95: 744-752. Pediatrics  
  10. Freund LS, Reiss AL, Abrams MT. Psychiatric disorders associated with fragile X in the young female. Pediatrics 1993; 91: 321-329. Pediatrics  
  11. Lachiewicz AM. Abnormal behaviors of young girls with fragile X syndrome. Am J Med Genet 1992; 43: 72-77. PubMed  
  12. Lachiewicz AM, Dawson DV. Behavior problems of young girls with fragile X syndrome: factor scores on the Conners' Parent's Questionnaire. Am J Med Genet 1994; 51: 364-369. PubMed  
  13. Davids JR, Hagerman RJ, Eilert RE. Orthopaedic aspects of fragile-X syndrome. J Bone Joint Surg Am 1990;72: 889-96. PubMed  
  14. Vuust J, Larsen LA, Grønskov K, Nørgaard-Pedersen B, Brøndum-Nielsen K. Screening for fragilt X-syndrom. Ugeskr Læger 2006; 168: 3704-8. PubMed  
  • Martin Jägervall, överläkare, Barn- och ungdomskliniken, Centrallasarettet Växjö

Tidigare sakkunniga

  • Terje Johannessen, professor i allmänmedicin, Institutt for samfunnsmedisinske fag, Norges teknisk-naturvitenskapelige universitet, Trondheim (anpassning till NEL)