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5. 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]
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7. Saudi Familial Hypercholesterolemia Patients With Rare Awan ZA; Rashidi OM; Al-Shehri BA; Jamil K; Elango R; Al-Aama JY; Hegele RA; Banaganapalli B; Shaik NA Front Med (Lausanne); 2021; 8():694668. PubMed ID: 34249980 [TBL] [Abstract][Full Text] [Related]
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9. 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]
10. Systematic prediction of familial hypercholesterolemia caused by low-density lipoprotein receptor missense mutations. Guo J; Gao Y; Li X; He Y; Zheng X; Bi J; Hou L; Sa Y; Zhang M; Yin H; Jiang L Atherosclerosis; 2019 Feb; 281():1-8. PubMed ID: 30583242 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
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14. 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]
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17. 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]
18. 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]
19. Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene. Jiang L; Benito-Vicente A; Tang L; Etxebarria A; Cui W; Uribe KB; Pan XD; Ostolaza H; Yang SW; Zhou YJ; Martin C; Wang LY Atherosclerosis; 2017 Aug; 263():163-170. PubMed ID: 28645073 [TBL] [Abstract][Full Text] [Related]
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