C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

2007 ◽  
Vol 39 (9) ◽  
pp. 1068-1070 ◽  
Author(s):  
Anna Richards ◽  
Arn M J M van den Maagdenberg ◽  
Joanna C Jen ◽  
David Kavanagh ◽  
Paula Bertram ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Exonuclease Trex1

Hereditary phlebectasis of the lips. An autosomal dominant disorder

1976 ◽  
Vol 112 (5) ◽  
pp. 712-714
Author(s):  
W. B. Reed
Keyword(s):  
Autosomal Dominant ◽  
Autosomal Dominant Disorder

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

Information provided by pairs of distantly affected relatives to search for genes involved in rare autosomal dominant diseases

1997 ◽  
Vol 61 (1) ◽  
pp. 25-36 ◽  
Author(s):  
E. GÉNIN ◽  
G. BELLIS ◽  
F. CLERGET-DARPOUX
Keyword(s):  
Autosomal Dominant

Frequency analysis of autosomal dominant cerebellar ataxias in Japanese patients and clinical characterization of spinocerebellar ataxia type 6

1998 ◽  
Vol 53 (1) ◽  
pp. 13-19 ◽  
Author(s):  
Hidetaka Watanabe ◽  
Fumiaki Tanaka ◽  
Michiyo Matsumoto ◽  
Manabu Doyu ◽  
Tetsuo Ando ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Frequency Analysis ◽  
Autosomal Dominant ◽  
Japanese Patients ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 6 ◽  
Cerebellar Ataxias

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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