Rett syndrome in Northern Tuscany (Italy): Family tree studies

Clinical Genetics

Volumn 50, Issue 6, 1996, Pages 486-490

  Pini, Giorgio ^a   Milan, Mario ^b   Zappella, Michele ^c  

^a Serv di Neuropsichiatria Inf UO   (Italy)

^b UNIVERSITY OF FERRARA   (Italy)

^c UNIVERSITY HOSPITAL OF SIENA   (Italy)

Author keywords

Clinical variability; Genealogy genetic epidemiology; Rett syndrome

Indexed keywords

ARTICLE; CHILD; CONSANGUINITY; FEMALE; GENETIC EPIDEMIOLOGY; HEREDITY; HUMAN; ITALY; MAJOR CLINICAL STUDY; POPULATION GENETICS; PRESCHOOL CHILD; PREVALENCE; PRIORITY JOURNAL; RETT SYNDROME; SCHOOL CHILD; TWINS;

EID: 0030478329     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.1996.tb02718.x     Document Type: Article

References (21)

1. Åkesson HO, Hagberg B, Wahlstrom J, Wiit Engerstrom I. Rett syndrome: a search for gene sources. Am J Med Genet 1992: 42: 104-108.
2. Åkesson HO, Hagberg B, Wahlstrom J, Witt Engerstrom I, Hagberg B. Rett syndrome: potential gene sources-phenotypical variability. Clin Genet 1995: 48: 169-172.
3. Benedetti L, Munnich A, Melki J, Tardieu M, Turleau C. Parental origin of the X chromosome in Rett syndrome. Am J Med Genet 1992: 44: 121-122.
4. Boltshauser E, Kunzle C. Prevalence of Rett syndrome in Switzerland. Helv Paediatr Acta 1987: 42: 407-411.
5. Bühler EM, Malik NJ, Alkan M. Another model for the inheritance of Rett syndrome. Am J Med Genet 1990: 36: 126-131.
6. Cavalli-Sforza LL, Bodmer WE The genetics of human populations. San Francisco: W H Freeman and Company. 1971: 351.
7. Coleman M, Brubaker J, Hunter K, Smith G. Rett syndrome: a survey of North American patients. J Ment Defic Res 1988: 32: 117-124.
8. Comings DE. The genetics of Rett syndrome: the consequence of a disorder where every case is a new mutation. Am J Med Genet 1986: 24: 383-388.
9. Hagberg B, Aicardi J, Dias K, Ramos O. A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett syndrome: report of 35 cases. Ann Neurol 1983: 14: 471-479.
10. Hagberg B. Rett syndrome: Swedish approach to analysis of prevalence and cause. Brain Dev 1985: 7: 227-280.
11. Hagberg B, Skjeldal O. Rett variants: a suggested model for inclusion criteria. Pediatr Neurol 1994: 11(1): 5-11.
12. Kozinetz CA, Skender ML, MacNaughton N, Almes MJ, Schultz RJ, Percy AK, Glaze DG. Epidemiology of Rett syndrome: a population-based registry. Pediatrics 1993: 91(2): 445-450.
13. Migeon BR, Dunn ML, Thomas G, Schmeckpeper BJ, Naidu S. Studies of X inactivation and isodisomy in twins provide further evidence that the X chromosome is not involved in Rett syndrome. Am J Hum Genet 1995: 56: 647-653.
14. Nomura Y, Segawa M, Hasegawa M. Rett syndrome: clinical studies and pathophysiological considerations. Brain Dev 1984: 6: 475-486.
15. Rett A. Über ein eigenaertiges hirnatrophisches Syndrom bei Hiperammonamie im Kindesalter. Wien med Wochenschr 1966: 116: 723-738.
16. Riccardi VM. The Rett syndrome: genetics and the future. Am J Med Genet 1986: 24: 389-402.
17. Ruch A, Kurczinski TW. Velasco ME. Mitochondrial alterations in Rett syndrome. Pediatr Neurol 1989: 5: 320-323.
18. The Rett Syndrome Diagnostic Criteria Work Group. Diagnostic criteria for Rett syndrome. Ann Neurol 1988: 23: 425-428.
19. Wahlström J. Practical and theoretical considerations concerning the genetics of the Rett syndrome. Brain Dev 1987: 9: 466-468.
20. Zappella M, Cerioli M. High prevalence of Rett syndrome in a small area. Brain Dev 1987: 9: 479-80.
21. Zappella M. The Rett girls with preserved speech. Brain Dev 1992: 14: 98-101.