scholarly journals Genetic spectrum of Familial Hypercholesterolemia and correlations with clinical expression: implications for diagnosis improvement

2021 ◽  
Author(s):  
Maria Donata Di Taranto ◽  
Carola Giacobbe ◽  
Daniela Palma ◽  
Gabriella Iannuzzo ◽  
Marco Gentile ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Clinical Expression

scholarly journals Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia

Medicine ◽  
2020 ◽  
Vol 99 (34) ◽  
pp. e21754
Author(s):  
Ane Bayona ◽  
Francisco Arrieta ◽  
Carmen Rodríguez-Jiménez ◽  
Francisco Cerrato ◽  
Sonia Rodríguez-Nóvoa ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Protective Factor ◽  
Loss Of Function ◽  
Clinical Expression

β-Thalassemia Is a Modifying Factor of the Clinical Expression of Familial Hypercholesterolemia

2004 ◽  
Vol 4 (03) ◽  
pp. 271-278 ◽  
Author(s):  
Sebastiano Calandra ◽  
Stefano Bertolini ◽  
Giovanni Mario Pes ◽  
Luca Deiana ◽  
Patrizia Tarugi ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Clinical Expression

2.W13.3 Familial hypercholesterolemia: Molecular genetics and clinical expression

1997 ◽  
Vol 134 (1-2) ◽  
pp. 110
Author(s):  
Joep C. Defesche ◽  
Marianne E. Wittekoek ◽  
John J.P. Kastelein
Keyword(s):  
Familial Hypercholesterolemia ◽  
Molecular Genetics ◽  
Clinical Expression

Intrafamilial variability in the clinical expression of familial hypercholesterolemia: importance of risk factor determination for genetic counselling

2008 ◽  
Vol 43 (6) ◽  
pp. 295-299 ◽  
Author(s):  
M. J. Kotze ◽  
H. J. Davis ◽  
S. Bissbort ◽  
E. Langenhoven ◽  
J. Brusnicky ◽  
...  
Keyword(s):  
Risk Factor ◽  
Familial Hypercholesterolemia ◽  
Genetic Counselling ◽  
Clinical Expression ◽  
Intrafamilial Variability

Gender effects on clinical expression and outcome of type 1 autoimmune hepatitis: Synergisms with known autoimmune promoters

2001 ◽  
Vol 120 (5) ◽  
pp. A354-A355
Author(s):  
A CZAJA ◽  
K AGARWAL ◽  
P DONALDSON
Keyword(s):  
Autoimmune Hepatitis ◽  
Gender Effects ◽  
Clinical Expression
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