Gillespie Syndrome References


39. Dollfus, H., Joanny Flinois, O., Doco Fenzy, M., Veyre, L.; Joanny Flinois, L.; Khoury, M.; Jonveaux, P.; Abitbol, M.; Dufier, J. L. 
Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation. 
Am-J-Ophthalmol. 1998 Mar; 125(3): 397- 9; ISSN: 0002-9394. UNITED-STATES. 

Gillespie FD Aniridia, cerebellar ataxia, and oligophrenia in siblings. Arch Ophth, 1965, 73:338-41  

Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).Francois J, Lentini F, de Rouck F

Glaser T, Ton CC, Mueller R, Petzl-Erler ML, Oliver C, Nevin NC, Housman DE, Maas RL. Department of Medicine and Howard Hughes Medical Institute, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02115.

Lechtenberg R, Ferreti C Ataxia with aniridia of Gillespie: a case report. Neurology, 1981, 31:95-7 [MEDLINE] 

Gillespie syndrome: a report of two further cases. Nelson J, Flaherty M, Grattan-Smith P. 

Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome. Nevin NC, Lim JH.

Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers. Wittig EO, Moreira CA, Freire-Maia N, Vianna-Morgante AM. 

Sarsfield JK The syndrome of congenital cerebellar ataxia, aniridia and mental retardation. Dev Med Child Neur, 1971, 13:508-11 
 
Sommer A et al A syndrome of partial aniridia, unilateral renal agenesis, and mild psychomotor retardation in siblings. J Pediat, 1974, 85:870-2 [MEDLINE] 

Verhulst S et al Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. Bull Soc Belg Ophth, 1993, 250:37-42  

Wittig EO et al Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers. Am J Med Genet, 1988, 30:703-8 [MEDLINE] 

Autosomal Dominant Gillespie syndrome in 4 generations with highly variable expressivity and incomplete penetrance. J. Gaudelus, B. Heron, P. Bitoun. Dept Pediatrie, NeuroPediatrie & Genet Med,CHU Paris-Nord, BONDY,93143cedex France.