BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

260 related articles for article (PubMed ID: 34297352)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
    Tichý L; Freiberger T; Zapletalová P; Soška V; Ravčuková B; Fajkusová L
    Atherosclerosis; 2012 Aug; 223(2):401-8. PubMed ID: 22698793
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
    Reijman MD; Defesche JC; Wiegman A
    Curr Opin Lipidol; 2023 Dec; 34(6):287-295. PubMed ID: 36752612
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil.
    de Paiva Silvino JP; Jannes CE; Tada MT; Lima IR; Silva IFO; Pereira AC; Gomes KB
    Mol Biol Rep; 2020 Dec; 47(12):9279-9288. PubMed ID: 33231818
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Identification of New Copy Number Variation and the Evaluation of a CNV Detection Tool for NGS Panel Data in Polish Familial Hypercholesterolemia Patients.
    Rutkowska L; Pinkier I; Sałacińska K; Kępczyński Ł; Salachna D; Lewek J; Banach M; Matusik P; Starostecka E; Lewiński A; Płoski R; Stawiński P; Gach A
    Genes (Basel); 2022 Aug; 13(8):. PubMed ID: 36011335
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. 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]  

  • 16. Identification of New Genetic Determinants in Pediatric Patients with Familial Hypercholesterolemia Using a Custom NGS Panel.
    Rutkowska L; Sałacińska K; Salachna D; Matusik P; Pinkier I; Kępczyński Ł; Piotrowicz M; Starostecka E; Lewiński A; Gach A
    Genes (Basel); 2022 Jun; 13(6):. PubMed ID: 35741760
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
    Pek SLT; Dissanayake S; Fong JCW; Lin MX; Chan EZL; Tang JI; Lee CW; Ong HY; Sum CF; Lim SC; Tavintharan S
    Atherosclerosis; 2018 Feb; 269():106-116. PubMed ID: 29353225
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 13.