Autosomal dominant atretic cephalocele with phenotype variability: Report of a Brazilian family with six affected in four generations

2006 ◽  
Vol 140A (13) ◽  
pp. 1458-1462 ◽  
Author(s):  
D.R. Carvalho ◽  
L.R. Giuliani ◽  
G.N. Simão ◽  
A.C. Santos ◽  
J.M. Pina-Neto
Keyword(s):  
Autosomal Dominant ◽  
Phenotype Variability ◽  
Atretic Cephalocele

Familial autosomal dominant cortico-basal degeneration with the P301S mutation in the tau gene: an example of phenotype variability

2005 ◽  
Vol 252 (12) ◽  
pp. 1546-1548 ◽  
Author(s):  
W. Casseron ◽  
J. P. Azulay ◽  
E. Guedj ◽  
J. L. Gastaut ◽  
J. Pouget
Keyword(s):  
Autosomal Dominant ◽  
Phenotype Variability ◽  
P301s Mutation

859: Autosomal Dominant Tranmission of Genitovaginal Prolapse

2005 ◽  
Vol 173 (4S) ◽  
pp. 233-234
Author(s):  
Gregory S. Jack ◽  
Raviender Bukkapatnam ◽  
Ganka Nicolav ◽  
Eric Vilain ◽  
Larissa V. Rodriguez
Keyword(s):  
Autosomal Dominant

A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant
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