scholarly journals FOXL2 Gene Mutation

2020 ◽  
Author(s):  
Keyword(s):  
Gene Mutation ◽  
Foxl2 Gene

A novel FOXL2 gene mutation and BMP15 variants in a woman with primary ovarian insufficiency and blepharophimosis–ptosis–epicanthus inversus syndrome

2015 ◽  
Vol 22 (11) ◽  
pp. 1264-1268 ◽  
Author(s):  
Nikolaos Settas ◽  
Margarita Anapliotou ◽  
Emmanuel Kanavakis ◽  
Helen Fryssira ◽  
Christalena Sofocleous ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Primary Ovarian Insufficiency ◽  
Ovarian Insufficiency ◽  
Foxl2 Gene

A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome

2010 ◽  
Vol 93 (3) ◽  
pp. 1006.e3-1006.e6 ◽  
Author(s):  
Frederico José Silva Corrêa ◽  
Adriano Bueno Tavares ◽  
Rinaldo Wellerson Pereira ◽  
Mauricio Simões Abrão
Keyword(s):  
Gene Mutation ◽  
Premature Ovarian Failure ◽  
Ovarian Failure ◽  
Foxl2 Gene

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

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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