BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

295 related articles for article (PubMed ID: 36834635)

  • 1. Genetic Heterogeneity of Familial Hypercholesterolemia: Repercussions for Molecular Diagnosis.
    Di Taranto MD; Fortunato G
    Int J Mol Sci; 2023 Feb; 24(4):. PubMed ID: 36834635
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.
    Medeiros AM; Alves AC; Miranda B; Chora JR; Bourbon M;
    J Lipid Res; 2024 Feb; 65(2):100490. PubMed ID: 38122934
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Molecular genetics of familial hypercholesterolemia in Israel-revisited.
    Durst R; Ibe UK; Shpitzen S; Schurr D; Eliav O; Futema M; Whittall R; Szalat A; Meiner V; Knobler H; Gavish D; Henkin Y; Ellis A; Rubinstein A; Harats D; Bitzur R; Hershkovitz B; Humphries SE; Leitersdorf E
    Atherosclerosis; 2017 Feb; 257():55-63. PubMed ID: 28104544
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.
    Di Taranto MD; Giacobbe C; Fortunato G
    Eur J Med Genet; 2020 Apr; 63(4):103831. PubMed ID: 31883481
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.
    Nagahara K; Nishibukuro T; Ogiwara Y; Ikegawa K; Tada H; Yamagishi M; Kawashiri MA; Ochi A; Toyoda J; Nakano Y; Adachi M; Mizuno K; Hasegawa Y; Dobashi K
    J Atheroscler Thromb; 2022 May; 29(5):667-677. PubMed ID: 34011801
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.
    Hori M; Ohta N; Takahashi A; Masuda H; Isoda R; Yamamoto S; Son C; Ogura M; Hosoda K; Miyamoto Y; Harada-Shiba M
    Atherosclerosis; 2019 Oct; 289():101-108. PubMed ID: 31491741
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.
    Hori M; Takahashi A; Hosoda K; Ogura M; Harada-Shiba M
    J Clin Endocrinol Metab; 2023 Jan; 108(2):422-432. PubMed ID: 36190978
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.
    Reeskamp LF; Volta A; Zuurbier L; Defesche JC; Hovingh GK; Grefhorst A
    J Clin Lipidol; 2020; 14(2):207-217.e7. PubMed ID: 32088153
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study.
    Pirillo A; Garlaschelli K; Arca M; Averna M; Bertolini S; Calandra S; Tarugi P; Catapano AL;
    Atheroscler Suppl; 2017 Oct; 29():17-24. PubMed ID: 28965616
    [TBL] [Abstract][Full Text] [Related]  

  • 10. The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.
    Mariano C; Alves AC; Medeiros AM; Chora JR; Antunes M; Futema M; Humphries SE; Bourbon M
    Clin Genet; 2020 Mar; 97(3):457-466. PubMed ID: 31893465
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia.
    Grenkowitz T; Kassner U; Wühle-Demuth M; Salewsky B; Rosada A; Zemojtel T; Hopfenmüller W; Isermann B; Borucki K; Heigl F; Laufs U; Wagner S; Kleber ME; Binner P; März W; Steinhagen-Thiessen E; Demuth I
    Atherosclerosis; 2016 Oct; 253():88-93. PubMed ID: 27596133
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank.
    Gandhi GD; Aamer W; Krishnamoorthy N; Syed N; Aliyev E; Al-Maraghi A; Kohailan M; Alenbawi J; Elanbari M; ; Mifsud B; Mokrab Y; Abi Khalil C; Fakhro KA
    J Transl Med; 2022 Nov; 20(1):502. PubMed ID: 36329474
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Genotypic and phenotypic features in homozygous familial hypercholesterolemia caused by proprotein convertase subtilisin/kexin type 9 (PCSK9) gain-of-function mutation.
    Mabuchi H; Nohara A; Noguchi T; Kobayashi J; Kawashiri MA; Inoue T; Mori M; Tada H; Nakanishi C; Yagi K; Yamagishi M; Ueda K; Takegoshi T; Miyamoto S; Inazu A; Koizumi J;
    Atherosclerosis; 2014 Sep; 236(1):54-61. PubMed ID: 25014035
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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]  

  • 15. Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.
    Rieck L; Bardey F; Grenkowitz T; Bertram L; Helmuth J; Mischung C; Spranger J; Steinhagen-Thiessen E; Bobbert T; Kassner U; Demuth I
    Clin Genet; 2020 Nov; 98(5):457-467. PubMed ID: 32770674
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.
    Chaudhry A; Trinder M; Vesely K; Cermakova L; Jackson L; Wang J; Hegele RA; Brunham LR
    Circ Genom Precis Med; 2023 Apr; 16(2):e003887. PubMed ID: 36960729
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India.
    Reddy LL; Shah SAV; Ponde CK; Dalal JJ; Jatale RG; Dalal RJ; Rajani RM; Pillai SK; Vanjani CV; Ashavaid TF
    J Hum Genet; 2021 Oct; 66(10):983-993. PubMed ID: 33864011
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The impact of gene variants on the thickness and softness of the Achilles tendon in familial hypercholesterolemia.
    Michikura M; Hori M; Ogura M; Hosoda K; Harada-Shiba M
    Atherosclerosis; 2022 Oct; 358():41-46. PubMed ID: 36087353
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
    Sánchez-Hernández RM; Civeira F; Stef M; Perez-Calahorra S; Almagro F; Plana N; Novoa FJ; Sáenz-Aranzubía P; Mosquera D; Soler C; Fuentes FJ; Brito-Casillas Y; Real JT; Blanco-Vaca F; Ascaso JF; Pocovi M
    Circ Cardiovasc Genet; 2016 Dec; 9(6):504-510. PubMed ID: 27784735
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis.
    Di Costanzo A; Minicocci I; D'Erasmo L; Commodari D; Covino S; Bini S; Ghadiri A; Ceci F; Maranghi M; Catapano AL; Gazzotti M; Casula M; Montali A; Arca M
    J Clin Lipidol; 2021; 15(6):822-831. PubMed ID: 34756585
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.