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Journal Abstract Search

294 related items for 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, Italian Study Group of Homozygous Familial Hypercholesterolemia.
    Atherosclerosis; 2020 Nov; 312():72-78. PubMed ID: 32977124
    [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
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  • 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, LIPIGEN Group.
    Atheroscler Suppl; 2017 Oct; 29():17-24. PubMed ID: 28965616
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  • 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
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  • 6. Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
    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
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  • 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
    [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 Mar; 11(2):507-514. PubMed ID: 28502508
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  • 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
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  • 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 May; 13(2):272-278. PubMed ID: 30795984
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  • 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
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  • 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 Oct; 12(3):693-701. PubMed ID: 29576406
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  • 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 Oct; 10(4):944-952.e1. PubMed ID: 27578127
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  • 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 Oct; 10(3):547-555.e5. PubMed ID: 27206942
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  • 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
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