BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

225 related articles for article (PubMed ID: 32489792)

  • 1. Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.
    Alnouri F; Al-Allaf FA; Athar M; Abduljaleel Z; Alabdullah M; Alammari D; Alanazi M; Alkaf F; Allehyani A; Alotaiby MA; Alshehri A; Bouazzaoui A; Karrar H; Taher MM
    Glob Heart; 2020 Feb; 15(1):19. PubMed ID: 32489792
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Next generation sequencing to identify novel genetic variants causative of autosomal dominant familial hypercholesterolemia associated with increased risk of coronary heart disease.
    Al-Allaf FA; Athar M; Abduljaleel Z; Taher MM; Khan W; Ba-Hammam FA; Abalkhail H; Alashwal A
    Gene; 2015 Jul; 565(1):76-84. PubMed ID: 25839937
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia.
    Alnouri F; Athar M; Al-Allaf FA; Abduljaleel Z; Taher MM; Bouazzaoui A; Al Ammari D; Karrar H; Albabtain M
    Atherosclerosis; 2018 Oct; 277():425-433. PubMed ID: 30270081
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of Novel and Known LDLR Variants Triggering Severe Familial Hypercholesterolemia in Saudi Families.
    Alnouri F; Al-Allaf FA; Athar M; Al-Rasadi K; Alammari D; Alanazi M; Abduljaleel Z; Awan Z; Bouazzaoui A; Dairi G; Elbjeirami WM; Karra H; Kinsara AJ; Taher MM
    Curr Vasc Pharmacol; 2022; 20(4):361-369. PubMed ID: 35249492
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Compound heterozygous LDLR variant in severely affected familial hypercholesterolemia patient.
    Al-Allaf FA; Alashwal A; Abduljaleel Z; Taher MM; Bouazzaoui A; Abalkhail H; Al-Allaf AF; Athar M
    Acta Biochim Pol; 2017; 64(1):75-79. PubMed ID: 27878139
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Identification of a recurrent frameshift mutation at the LDLR exon 14 (c.2027delG, p.(G676Afs*33)) causing familial hypercholesterolemia in Saudi Arab homozygous children.
    Al-Allaf FA; Alashwal A; Abduljaleel Z; Taher MM; Siddiqui SS; Bouazzaoui A; Abalkhail H; Aun R; Al-Allaf AF; AbuMansour I; Azhar Z; Ba-Hammam FA; Khan W; Athar M
    Genomics; 2016 Jan; 107(1):24-32. PubMed ID: 26688439
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel low-density lipoprotein receptor variant in a Ukrainian patient: a case report and overview of the disease-causing low-density lipoprotein receptor variants associated to familial hypercholesterolemia.
    Moffa S; Onori ME; De Paolis E; Ricciardi Tenore C; Perrucci A; Pontecorvi A; Giaccari A; Urbani A; Minucci A
    Mol Biol Rep; 2022 Feb; 49(2):1623-1630. PubMed ID: 34846648
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Severe xanthomatosis in heterozygous familial hypercholesterolemia.
    Aljenedil S; Ruel I; Watters K; Genest J
    J Clin Lipidol; 2018; 12(4):872-877. PubMed ID: 29778561
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
    Jensen HK
    Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
    [TBL] [Abstract][Full Text] [Related]  

  • 10. DIAgnosis and Management Of familial hypercholesterolemia in a Nationwide Design (DIAMOND-FH): Prevalence in Switzerland, clinical characteristics and the diagnostic value of clinical scores.
    Miserez AR; Martin FJ; Spirk D
    Atherosclerosis; 2018 Oct; 277():282-288. PubMed ID: 30270060
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Universal screening for familial hypercholesterolemia in children: The Slovenian model and literature review.
    Groselj U; Kovac J; Sustar U; Mlinaric M; Fras Z; Podkrajsek KT; Battelino T
    Atherosclerosis; 2018 Oct; 277():383-391. PubMed ID: 30270075
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.
    Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J
    J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree].
    Wang DY; Zhang YM; Che FY; Chu JP; Zhang LY; Li H; Liu BL; Yao ZY; Zhao YW
    Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):101-106. PubMed ID: 32102145
    [No Abstract]   [Full Text] [Related]  

  • 14. [Homozygous familial hypercholesterolemia: development and a case illustration].
    Choukri M; Laaroussi N; Taheri H; Chabraoui L
    Ann Biol Clin (Paris); 2013; 71(1):99-103. PubMed ID: 23396432
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a novel LDLR disease-causing variant using capture-based next-generation sequencing screening of familial hypercholesterolemia patients in Taiwan.
    Hsiung YC; Lin PC; Chen CS; Tung YC; Yang WS; Chen PL; Su TC
    Atherosclerosis; 2018 Oct; 277():440-447. PubMed ID: 30270083
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
    Reeskamp LF; Hartgers ML; Peter J; Dallinga-Thie GM; Zuurbier L; Defesche JC; Grefhorst A; Hovingh GK
    Circ Genom Precis Med; 2018 Dec; 11(12):e002385. PubMed ID: 30562117
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Evaluation of clinical and laboratory parameters used in the identification of index cases for genetic screening of familial hypercholesterolemia in Brazil.
    Silva PRS; Jannes CE; Oliveira TGM; Miname MH; Rocha VZ; Chacra AP; Gurgel MHC; Montenegro RM; Rodrigues Sobrinho CRM; Bello Moreira AS; Assad MHV; Pinto MRC; Tada MT; Santos RD; Pereira AC; Krieger JE
    Atherosclerosis; 2017 Aug; 263():257-262. PubMed ID: 28689098
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
    Di Taranto MD; Giacobbe C; Palma D; Iannuzzo G; Gentile M; Calcaterra I; Guardamagna O; Auricchio R; Di Minno MND; Fortunato G
    Clin Genet; 2021 Nov; 100(5):529-541. PubMed ID: 34297352
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.
    Rabacchi C; Bigazzi F; Puntoni M; Sbrana F; Sampietro T; Tarugi P; Bertolini S; Calandra S
    J Clin Lipidol; 2016; 10(4):944-952.e1. PubMed ID: 27578127
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Homozygous familial hypercholesterolaemia in Vietnam: Case series, genetics and cascade testing of families.
    Truong TH; Kim NT; Nguyen MNT; Pang J; Hooper AJ; Watts GF; Do DL
    Atherosclerosis; 2018 Oct; 277():392-398. PubMed ID: 30270076
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.