Information

References


 1. Hodapp, R. M. (1997). Direct and Indirect Behavioral Effects of Different Genetic Disorders of Mental Retardation. American Journal on Mental Retardation, 102, 67-79.

 2. Bryson, Y., Sakati, N., Nyhan, W., & Fish, C. (1971). Self-mutilative behavior in the Cornelia de Lange Syndrome. American Journal of Mental Deficiency, 76, 319-324.

 3. Shear, C., Nyhan, W., Kirman, B., & Stern, J. (1971). Self-mutilative behavior as a feature of the de Lange Syndrome. The Journal of Pediatrics, 78, 506-508.

 4. Nyhan, W. (1972). Clinical features of the Lesch- Nyhan Syndrome. Archives of International Medicine, 130, 187.

 5. Dykens, E. M. (1995). Measuring Behavioral Phenotypes: Provocations From the ‘New Genetics’. American Journal on Mental Retardation, 99, 522-532.

 6. Dykens, E. M., Hodapp, R. M., & Finucane, B. (2000). Genetics and Mental Retardation Syndromes. London: Paul H Brookes Publishing Co.

 7. Hodapp, R. M. (1999). Indirect effects of genetic mental retardation disorders: Theoretical and methodological issues. International Review of Research in Mental Retardation, 22, 27-47.

 8. Beck, B. & Fenger, K. (1985). Mortality, pathological findings and causes of death in the de Lange Syndrome. Acta Paediatrica Scandinavia, 74, 765- 769.

 9. Ireland, M., English, C., Cross, I., Houlsby, W. T & Burn, J. (1991). A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange Syndrome. Journal of Medical Genetics, 28, 639-640.

 10. Ireland, M., English, C., Cross, I., Lindsay, S., & Strachan, T. (1995). Partial trisomy-3q and the mild Cornelia-de-Lange-Syndrome phenotype. Journal of Medical Genetics, 32, 837-838.

 11. Ireland, M., Donnai, D., & Burn, J. (1993). Brachmann-de Lange Syndrome - delineation of the clinical phenotype. American Journal of Medical Genetics, 47, 959-964.

 12. Jackson, L., Kline, A. D., Barr, M. A., & Koch, S. (1993). De Lange-Syndrome - a clinical review of 310 individuals. American Journal of Medical Genetics, 47, 940-946.

 13. Berney, T. P., Ireland, M., & Burn, J. (1999). Behavioural phenotype of Cornelia de Lange Syndrome. Archives of Disease in Childhood, 81, 333-336.

 14. Beck, B. (1987). Psycho-social assessment of 36 de Lange patients. Journal of Mental Deficiency Research, 31, 251-257.

 15. Sarimski, K. (1997). Communication, social-emotional development and parenting stress in Cornelia-de-Lange Syndrome. Journal of Intellectual Disability Research, 41, 70-75.

 16. Hyman, P., Oliver, C., & Hall, S. (2002). Self-injurious behavior, self-restraint, and compulsive Behaviors in Cornelia de Lange Syndrome. American Journal on Mental Retardation, 107, 146-154.

 17. Clayton-Smith, J., & Pembrey, M. E. (1992). Angelman Syndrome. Journal of Medical Genetics, 29, 412-415.

 18. Steffenburg, S., Gillberg, C. L., Steffenburg, U., & Kyllerman, M. (1996). Autism in Angelman Syndrome: A population-based study. Pediatric Neurology, 14, 131-136.

 19. Chan, C. T. J., Clayton-Smith, J., Cheng, X. J., Buxton, J., Webb, T., Pembrey, M. E., & Malcolm, S. (1993). Molecular mechanisms in Angelman Syndrome: a survey of 93 patients. Journal of Medical Genetics, 30, 895-902.

 20. Clayton-Smith, J. (1993). Clinical Research on Angelman Syndrome in the United Kingdom: Observations on 82 affected individuals. American Journal of Medical Genetics, 46, 12-15.

 21. Smith, A., Wiles, C., Haan, E., McGill, J., Wallace, G., Dixon, J., Selby, R., Colley, A., Marks, R., & Trent, R. J. (1996). Clinical features in 27 patients with Angelman Syndrome resulting from DNA deletion. Journal of Medical Genetics, 33, 107-112.

 22. Summers, J. A. & Feldman, M. A. (1999). Distinctive pattern of behavioral functioning in Angelman Syndrome. American Journal on Mental Retardation, 104, 376-384.

 23. Summers, J. A., Allison, D. B., Lynch, P. S., & Sandler, L. (1995). Behavior problems in Angelman Syndrome. Journal of Intellectual Disability Research, 39, 97-106.

 24. Overhauser, J., Huang, X., Gersh, M., Wilson, W., McMahon, J., Bengtsson U., Rojas, K., Meyer, M.. & Wasmuth, J. J. (1994). Molecular and phenotypic mapping of the short arm of chromosome 5: Sublocalization of the critical region for the Cri du Chat Syndrome. Human Molecular Genetics, 63, 301-304.

 25. Cornish, K. M., Munir, F., & Bramble, D. (1998). Adaptive and maladaptive behaviour in children with Cri-du-chat Syndrome. Journal of Applied Research in Intellectual Disabilities, 11, 239-246.

 26. Dykens, E. M. & Clarke, D. J. (1997). Correlates of maladaptive behavior in individuals with 5p-(Cri du Chat) syndrome. Developmental Medicine and Child Neurology, 39, 752-756.

 27. Collins, M. S. R. & Cornish, K. (2002). A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat Syndrome. Journal of Intellectual Disability Research, 46, 133-140.

 28. Crawhall, J. C., Henderson, J. F., & Kelley, W. M. (1972). Diagnosis and treatment of the Lesch- Nyhan Syndrome. Pediatric Research, 6, 504-513. 29. Stout & Caskey (1989; O’Brien, G. & Yule, W. (1995). Behavioral Phenotypes. London, Mac Keith Press.

 30. O’Brien, G. & Yule, W. (1995). Behavioral Phenotypes. London, Mac Keith Press. 31. Christie, R., Bay, C., Kaufman, I. A., Bakay, B., Borden, M., & Nyhan, W. L. (1982). Lesch-Nyhan disease: Clinical experience with nineteen patients. Developmental Medicine and Child Neurology, 24, 293-306.

 32. Anderson, L. T., & Ernst, M. (1994). Self-injury in Lesch-Nyhan disease. Journal of Autism and Developmental Disorders, 24, 67 - 81. 33. Hagberg, B. (1985). Rett’s Syndrome: A prevalence and impact on progressive severe mental retardation in girls. Acta Paediatrica Scandinavia, 74, 405-408.

 34. Ellison, K. A., Fill, C. P., Terwilliger, J., DeGennaro, A., Martin-Gallardo, Anvret, M., Percy, A. K., Ott, J., & Zoghbi, H. (1992). Examination of X chromosome markers in Rett Syndrome: Exclusion mapping with a novel variation on multilocus linkage analysis. American Journal of Human Genetics, 50, 278-287.

 35. Perry, A. (1991). Rett Syndrome: A comprehensive review of the literature. American Journal on Mental Retardation, 96, 275-290.

 36. Van Acker, R. (1991). Rett Syndrome: A review of current knowledge. Journal of Autism and Developmental Disorder, 21, 381-406.

 37. Coleman, M., Brubaker, J., Hunter, K., & Smith, G. (1988). Rett Syndrome: A survey of North American patients. Journal of Mental Deficiency Research, 32, 117-124.

 38. Mount, R., Hastings, R., Reilly, S., Cass, H., & Charman, T. (2001). Behavioural and emotional features in Rett Syndrome. Disability and Rehabilitation, 23, 129-138.

 39. Sansom, D., Krishnan, V. H. R., Corbett, J., & Kerr, A. (1993). Emotional and behavioral-aspects of Rett Syndrome. Developmental Medicine and Child Neurology, 35, 340-345.

 40. Burd, L., Vesely, B., Martsolf, J., & Kerbeshian, J. (1990). Prevalence study of Prader-Willi Syndrome in North Dakota. American Journal of Medical Genetics, 37, 97 - 99.

 41. Ledbetter, D. H., Mascarello, J. T., Riccardo, V. M., Harper, V. D., Aairhart, S. D., & Strobel, R. J. (1982). Chromosome 15 abnormalities and the Prader-Willi Syndrome: A follow up report of 40 cases. American Journal of Human Genetics, 34, 278 - 285.

 42. Donaldson, M. D. C., Chi, C. E., Cooke, A., Wilson, A., Greene, S. A., Stephenson, J. B. P. (1994). The Prader-Willi Syndrome. Archives of Disease in Childhood, 70, 58-63.

 43. Couper, R. T. L. (1999). Prader-Willi Syndrome. Journal of Paediatric and Child Health, 35, 331 - 334.

 44. Cassidy, S. B. (1997). Prader-Willi Syndrome. Journal of Medical Genetics, 34, 917 - 923.

 45. Greenberg, F., Guzzetta, V., de Oca-Luna, R. M., Magenis, R. E., Smith, A. C. M., Richter, S. F., Kondo, I., Dobyns, W. B., Patel, P. I., & Lupski, J. R. (1991). Molecular analysis of the Smith- Magenis Syndrome: A possible contiguous gene syndrome associated with del (17)(p11.2). American Journal of Human Genetics, 49, 1207 - 1218.

 46. Smith, A. C. M., McGavran, L., Robinson, J., Waldstein, G., Macfarlane, J., Zonona, J., Reiss, J., Lahr, M., Allen, L., & Magenis, E. (1986). Interstitial deletion of (17)(p11.2p11.2) in nine patients. American Journal of Medical Genetics, 24, 393 - 414.

 47. Allanson, J. E, Greenberg, F., & Smith, A. C. M. (1999). The face of Smith-Magenis Syndrome: a subjective and objective study. Journal of Medical Genetics, 36, 394-397.

 48. Greenberg, F., Guzzetta, V., de Oca-Luna, R. M., Magenis, R. E., Smith, A. C. M., Richter, S. F., Kondo, I., Dobyns, W. B., Patel, P. I., & Lupski, J. R. (1991). Molecular analysis of the Smith- Magenis Syndrome: A possible contiguous gene syndrome associated with del (17)(p11.2). American Journal of Human Genetics, 49, 1207 - 1218.

 49. Greenberg, F., Lewis, R. A. Potocki, L., Glaze, D., Parkem J., Killian, J., Murphy, M. A., Williamson, D., Brown, F., Dutton, R., McCluggage, C., Friedman, E., Sulek, M., & Lupski, J. R. (1996). Multi-disciplinary clinical study of Smith-Magenis Syndrome (deletion 17p11.2). American Journal of Medical Genetics, 62, 247 - 254.

 50. Colley, A. F., Leversha, M. A., Voullaire, L. E. & Rogers, J. G. (1990). Five cases demonstrating the distinctive behavioural features of chromosome deletion 17 (p11.2 p11.2) (Smith-Magenis Syndrome). Journal of Paediatrics and Child Health, 26, 17 - 21.

 51. Dykens. E. M., (1999). Direct Effects Genetic Mental Retardation Syndromes: Maladaptive Behavior and Psychopathology. International Review of Research in Mental Retardation, 22, 1- 26.

 52. Finucane, B. M., Konar, D., Haas-Givler, B. Kurtz, M., & Scott, C. I. (1993). Self-hugging as a diagnostic marker in Smith-Magenis Syndrome. American Journal of Human Genetics, 53, 431.

 53. Finucane, B. M., Konar, D., Haas-Givler, B. Kurtz, M., & Scott, C. I. (1994). The spasmodic upper body squeeze: a characteristic behavior in Smith- Magenis Syndrome. Developmental Medicine and Child Neurology, 36, 70 - 83.

Chris Oliver

by Chris Oliver Jo Moss Jane Petty Kate Arron Jenny Sloneem Scott Hall

Source:
Page history
Last modified by Gerritjan Koekkoek on 2023/07/14 08:45
Created by Gerritjan Koekkoek on 2021/05/23 22:33

About the website contents

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: info@cdlsWorld.org