Cascade screening for familial hypercholesterolaemia and its effectiveness in the prevention of vascular disease

K Herman, C Van Heyningen… - The British Journal of …, 2009 - journals.sagepub.com
We describe cascade screening for familial hypercholesterolaemia (FH) and review the
evidence for its effectiveness. We consider how it will be implemented into primary and …

Genetics and kinetics of familial hypercholesterolemia, with the special focus on FH-Marburg p. W556R

M Soufi, B Kurt, H Schweer, AM Sattler, G Klaus… - Atherosclerosis …, 2009 - Elsevier
OBJECTIVE: Familial hypercholesterolemia (FH) is an autosomal dominant inherited
disorder, caused by mutations in the low density lipoprotein receptor (LDLR) gene. FH is …

Perfil genómico de riesgo en la práctica clínica

V Raggio, L Roche - Revista Médica del Uruguay, 2009 - scielo.edu.uy
En los últimos diez años se ha visto un aumento exponencial tanto de los conocimientos en
genética médica como en la capacidad de analizar el genoma humano. En los próximos …

Genetics of atherosclerosis

R Roberts, R McPherson… - … Genetics and Genomics, 2009 - Wiley Online Library
152 Part II Specific Cardiovascular Disease identical among humans, leaving the remaining
0.1% to account for all individual variations including predisposition or resistance to disease …

L'hypercholestérolémie familiale en Tunisie

A Jelassi, I Jguirim, M Najah, F Maatouk, KB Hamda… - Pathologie …, 2009 - Elsevier
Familial hypercholesterolemia or autosomal dominant hypercholesterolemia is
characterized by raised serum LDL (low density lipoproteins)-cholesterol levels, which result …

Una nueva mutación en el promotor del gen del receptor de las lipoproteínas de baja densidad asociada a hipercolesterolemia familiar en homocigosis y …

P Esperón, V Raggio, M Stoll - Clínica e investigación en arteriosclerosis, 2009 - Elsevier
La hipercolesterolemia familiar (HF) es una enfermedad hereditaria, relativamente frecuente
y asociada al desarrollo de ateroesclerosis y enfermedad coronaria prematuras. En este …

Analysis of genetic markers for cardiovascular disorders in a portuguese population with familial hypercholesterolemia

APR Gomes - 2009 - repositorio.ul.pt
Familial Hypercholesterolemia (FH) is a genetic disorder that leads to an increase in the
levels of total and low density lipoprotein cholesterol promoting atherosclerosis (ATH) and …

[PDF][PDF] L'hypercholestérolémie familiale en Tunisie Familial hypercholesterolemia in Tunisia

A Jelassi, I Jguirim, M Najah, F Maatouk… - Pathologie …, 2009 - researchgate.net
Familial hypercholesterolemia or autosomal dominant hypercholesterolemia is
characterized by raised serum LDL (low density lipoproteins)-cholesterol levels, which result …

[PDF][PDF] GENETICAL AND MOLECULAR ANALYSIS OF FAMILIAL HYPERCHOLESTEREMIA DISEASE

AHM Al-Faisal - 2009 - iasj.net
The mendelian autosomal dominant diseases are a group of diseases which raised by a
dominant mutated allele of a single gene. Most of these dominant genes are heterozygous …

Grosor de la íntima-media carotídea en la hipercolesterolemia familiar heterocigótica: factores asociados y variación al año de tratamiento

C Lahoz, JM Mostaza, MA San Martín, MFG Iglesias… - Medicina clínica, 2009 - Elsevier
Fundamento y objetivo Estudiar los factores asociados al grosor íntima-media (GIM) y las
placas carotídeas en pacientes con hipercolesterolemia familiar y valorar su evolución tras …