scholarly journals NOTCH3 Gene Mutation

2020 ◽  
Author(s):  
Keyword(s):  
Gene Mutation ◽  
Notch3 Gene

A novel Notch3 gene mutation not involving a cysteine residue in an Italian family with CADASIL

Neurology ◽  
2004 ◽  
Vol 63 (3) ◽  
pp. 561-564 ◽  
Author(s):  
R. Mazzei ◽  
F. L. Conforti ◽  
P. L. Lanza ◽  
T. Sprovieri ◽  
M. R. Lupo ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Cysteine Residue ◽  
Notch3 Gene ◽  
Italian Family

A Novel NOTCH3 Gene Mutation in a Polish CADASIL Family

2019 ◽  
Vol 28 (3) ◽  
pp. 574-576
Author(s):  
Karolina Machowska- Sempruch ◽  
Anna Bajer- Czajkowska ◽  
Karol Makarewicz ◽  
Karolina Zaryczańska ◽  
Adam Koryzma ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Notch3 Gene

NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family

2020 ◽  
Vol 29 (2) ◽  
pp. 104530 ◽  
Author(s):  
Andrés Gallardo ◽  
Verónica Latapiat ◽  
Alejandra Rivera ◽  
Beatriz Fonseca ◽  
Andrés Roldan ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Autosomal Dominant ◽  
Notch3 Gene

Clinical presentation of CADASIL in an Italian patient with a rare Gly528Cys exon 10 NOTCH3 gene mutation

2007 ◽  
Vol 28 (4) ◽  
pp. 181-184 ◽  
Author(s):  
M. Ragno ◽  
G. Cacchiò ◽  
G. M. Fabrizi ◽  
M. Scarcella ◽  
F. Silvaggio ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Clinical Presentation ◽  
Italian Patient ◽  
Notch3 Gene ◽  
Exon 10

Abstract #703: An Adult Patient with Severe Hypocalciuric Hypercalcemia with Negative Casr Gene Mutation

2015 ◽  
Vol 21 ◽  
pp. 124-125
Author(s):  
Grace Kim ◽  
Michael Marchese ◽  
Hassan Shawa ◽  
Matthew Leinung ◽  
Sara Clark
Keyword(s):  
Adult Patient ◽  
Gene Mutation ◽  
Casr Gene

SCREENING OF FSH RECEPTOR GENE MUTATION (C566T) IN AZOOSPERMIC MEN IN JAPAN

2006 ◽  
Vol 52 (1) ◽  
pp. 15-19 ◽  
Author(s):  
T. Ishikawa ◽  
M. Fujisawa ◽  
J. Tapanainen
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Fsh Receptor ◽  
Fsh Receptor Gene
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