These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

293 related articles for article (PubMed ID: 32977124)

  • 1. Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features.
    Bertolini S; Calandra S; Arca M; Averna M; Catapano AL; Tarugi P;
    Atherosclerosis; 2020 Nov; 312():72-78. PubMed ID: 32977124
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 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. Phenotypical, Clinical, and Molecular Aspects of Adults and Children With Homozygous Familial Hypercholesterolemia in Iberoamerica.
    Alves AC; Alonso R; Diaz-Diaz JL; Medeiros AM; Jannes CE; Merchan A; Vasques-Cardenas NA; Cuevas A; Chacra AP; Krieger JE; Arroyo R; Arrieta F; Schreier L; Corral P; Bañares VG; Araujo MB; Bustos P; Asenjo S; Stoll M; Dell'Oca N; Reyes M; Ressia A; Campo R; Magaña-Torres MT; Metha R; Aguilar-Salinas CA; Ceballos-Macias JJ; Morales ÁJR; Mata P; Bourbon M; Santos RD
    Arterioscler Thromb Vasc Biol; 2020 Oct; 40(10):2508-2515. PubMed ID: 32757650
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. Additive Effect of
    Marmontel O; Abou-Khalil Y; Bluteau O; Cariou B; Carreau V; Charrière S; Divry E; Gallo A; Moulin P; Paillard F; Peretti N; Rabès JP; Varret M; Carrié A; Di Filippo M
    Arterioscler Thromb Vasc Biol; 2023 Jul; 43(7):e270-e278. PubMed ID: 37128917
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab.
    Thedrez A; Blom DJ; Ramin-Mangata S; Blanchard V; Croyal M; Chemello K; Nativel B; Pichelin M; Cariou B; Bourane S; Tang L; Farnier M; Raal FJ; Lambert G
    Arterioscler Thromb Vasc Biol; 2018 Mar; 38(3):592-598. PubMed ID: 29284604
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Plasma lipoprotein(a) levels in patients with homozygous autosomal dominant hypercholesterolemia.
    Sjouke B; Yahya R; Tanck MWT; Defesche JC; de Graaf J; Wiegman A; Kastelein JJP; Mulder MT; Hovingh GK; Roeters van Lennep JE
    J Clin Lipidol; 2017; 11(2):507-514. PubMed ID: 28502508
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
    Sjouke B; Defesche JC; Hartgers ML; Wiegman A; Roeters van Lennep JE; Kastelein JJ; Hovingh GK
    J Clin Lipidol; 2016; 10(6):1462-1469. PubMed ID: 27919364
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
    Slimani A; Jelassi A; Jguirim I; Najah M; Rebhi L; Omezzine A; Maatouk F; Hamda KB; Kacem M; Rabès JP; Abifadel M; Boileau C; Rouis M; Slimane MN; Varret M
    Atherosclerosis; 2012 May; 222(1):158-66. PubMed ID: 22417841
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.
    Sjouke B; Kusters DM; Kindt I; Besseling J; Defesche JC; Sijbrands EJ; Roeters van Lennep JE; Stalenhoef AF; Wiegman A; de Graaf J; Fouchier SW; Kastelein JJ; Hovingh GK
    Eur Heart J; 2015 Mar; 36(9):560-5. PubMed ID: 24585268
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.
    Luirink IK; Braamskamp MJAM; Wiegman A; Hartgers ML; Sjouke B; Defesche JC; Hovingh GK
    J Clin Lipidol; 2019; 13(2):272-278. PubMed ID: 30795984
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.
    Pisciotta L; Priore Oliva C; Pes GM; Di Scala L; Bellocchio A; Fresa R; Cantafora A; Arca M; Calandra S; Bertolini S
    Atherosclerosis; 2006 Oct; 188(2):398-405. PubMed ID: 16343504
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Next-generation sequencing to confirm clinical familial hypercholesterolemia.
    Reeskamp LF; Tromp TR; Defesche JC; Grefhorst A; Stroes ESG; Hovingh GK; Zuurbier L
    Eur J Prev Cardiol; 2021 Jul; 28(8):875-883. PubMed ID: 34298557
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.
    Hernández Flores TJ; González García JR; Colima Fausto AG; Vázquez Cárdenas NA; Sánchez López Y; Zarate Morales CA; Magaña Torres MT
    J Clin Lipidol; 2018; 12(3):693-701. PubMed ID: 29576406
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia.
    Rubba P; Gentile M; Marotta G; Iannuzzi A; Sodano M; De Simone B; Jossa F; Iannuzzo G; Giacobbe C; Di Taranto MD; Fortunato G
    Eur J Prev Cardiol; 2017 Jul; 24(10):1051-1059. PubMed ID: 28353356
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.
    Alonso R; Díaz-Díaz JL; Arrieta F; Fuentes-Jiménez F; de Andrés R; Saenz P; Ariceta G; Vidal-Pardo JI; Almagro F; Argueso R; Prieto-Matos P; Miramontes JP; Pintó X; Rodriguez-Urrego J; Perez de Isla L; Mata P
    J Clin Lipidol; 2016; 10(4):953-961. PubMed ID: 27578128
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Proprotein convertase subtilisin/kexin 9 V4I variant with LDLR mutations modifies the phenotype of familial hypercholesterolemia.
    Ohta N; Hori M; Takahashi A; Ogura M; Makino H; Tamanaha T; Fujiyama H; Miyamoto Y; Harada-Shiba M
    J Clin Lipidol; 2016; 10(3):547-555.e5. PubMed ID: 27206942
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
    Bertolini S; Pisciotta L; Rabacchi C; Cefalù AB; Noto D; Fasano T; Signori A; Fresa R; Averna M; Calandra S
    Atherosclerosis; 2013 Apr; 227(2):342-8. PubMed ID: 23375686
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.