Associated Papers
LDL-cholesterol in newborns and children with genetically verified familial hypercholesterolaemia: implications for cholesterol-based screening.
Bogsrud MP et al.
European Heart Journal, 2025
Early-onset Alzheimer's disease due to novel LDLR gene mutation.
Perković R et al.
Acta Neurologica Belgica, 2024
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.
D'Erasmo L et al.
Orphanet Journal of Rare Diseases, 2021
Structure-Function Relationships of LDL Receptor Missense Mutations Using Homology Modeling.
Porntadavity S et al.
The Protein Journal, 2019
Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity.
Klaus G et al.
Pediatric Nephrology (berlin, Germany), 2018
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.
Gabčová D et al.
Physiological Research, 2017
Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
Mollaki V et al.
Atherosclerosis, 2014
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.
Huijgen R et al.
European Heart Journal, 2012
Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
Diakou M et al.
European Journal of Internal Medicine, 2011
Increased intima-media thickness in carriers of the ldl-receptor defective gene versus noncarriers with newly detected asymptomatic severe hypercholesterolemia.
Vladimirova-Kitova LG et al.
Echocardiography (mount Kisco, N.y.), 2011
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.
Tosi I et al.
Atherosclerosis, 2007
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K et al.
Journal of Inherited Metabolic Disease, 2007
Analysis of LDLR mutations in familial hypercholesterolemia patients in Greece by use of the NanoChip microelectronic array technology.
Laios E et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
Different genes and polymorphisms affecting high-density lipoprotein cholesterol levels in Greek familial hypercholesterolemia patients.
Dedoussis GV et al.
Genetic Testing, 2006
Apolipoprotein E polymorphism is not associated with lipid levels and coronary artery disease in Greek patients with familial hypercholesterolaemia.
Pitsavos C et al.
Clinical and Experimental Medicine, 2005
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
Muller PY et al.
Atherosclerosis. Supplements, 2004
Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis.
Sozen M et al.
Atherosclerosis. Supplements, 2004
Current management of severe homozygous hypercholesterolaemias.
Naoumova RP et al.
Current Opinion in Lipidology, 2004
FH clinical phenotype in Greek patients with LDL-R defective vs. negative mutations.
Dedoussis GV et al.
European Journal of Clinical Investigation, 2004
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
Dedoussis GV et al.
Human Mutation, 2004
Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.
Mihaylov VA et al.
Journal of Human Genetics, 2004
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
Nauck MS et al.
Human Mutation, 2001
Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece.
Miltiadous G et al.
Human Mutation, 2001
Analysis of low density lipoprotein receptor gene mutations and microsatellite haplotypes in Greek FH heterozygous children: six independent ancestors account for 60% of probands.
Traeger-Synodinos J et al.
Human Genetics, 1998
A high incidence of mutations in exon 6 of the low-density lipoprotein receptor gene in Greek familial hypercholesterolemia patients, including a novel mutation.
Mavroidis N et al.
Human Mutation, 1997
Characterization of mutations in the low density lipoprotein (LDL)-receptor gene in patients with homozygous familial hypercholesterolemia, and frequency of these mutations in FH patients in the United Kingdom.
Webb JC et al.
Journal of Lipid Research, 1996
Molecular genetics of the LDL receptor gene in familial hypercholesterolemia.
Hobbs HH et al.
Human Mutation, 1992
Management of a patient with a null low-density lipoprotein receptor mutation: a case report.
Kolovou GD et al.
Angiology, 0
Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.
Mollaki V et al.
Journal of Clinical Lipidology, 0
[Homocystinuria: case reports with a note on hyperhomocysteinemia as a risk factor for the early onset of vascular disease].
Barić I et al.
Lijecnicki Vjesnik, 0