192 related articles for article (PubMed ID: 35441343)
21. Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.
Radovica-Spalvina I; Latkovskis G; Silamikelis I; Fridmanis D; Elbere I; Ventins K; Ozola G; Erglis A; Klovins J
BMC Med Genet; 2015 Sep; 16():86. PubMed ID: 26415676
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Elevated plasma PCSK9 level is equally detrimental for patients with nonfamilial hypercholesterolemia and heterozygous familial hypercholesterolemia, irrespective of low-density lipoprotein receptor defects.
Lambert G; Petrides F; Chatelais M; Blom DJ; Choque B; Tabet F; Wong G; Rye KA; Hooper AJ; Burnett JR; Barter PJ; Marais AD
J Am Coll Cardiol; 2014 Jun; 63(22):2365-73. PubMed ID: 24632287
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. [Genotype-phenotype analysis of a homozygous familial hypercholesterolemia pedigree].
Wang DY; Zhang YM; Che FY; Chu JP; Zhang LY; Li H; Liu BL; Yao ZY; Zhao YW
Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):101-106. PubMed ID: 32102145
[No Abstract] [Full Text] [Related]
27. The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia.
Hori M; Takahashi A; Son C; Ogura M; Harada-Shiba M
Lipids Health Dis; 2020 Apr; 19(1):62. PubMed ID: 32252761
[TBL] [Abstract][Full Text] [Related]
28. The Proprotein Convertase Subtilisin/Kexin Type 9-resistant R410S Low Density Lipoprotein Receptor Mutation: A NOVEL MECHANISM CAUSING FAMILIAL HYPERCHOLESTEROLEMIA.
Susan-Resiga D; Girard E; Kiss RS; Essalmani R; Hamelin J; Asselin MC; Awan Z; Butkinaree C; Fleury A; Soldera A; Dory YL; Baass A; Seidah NG
J Biol Chem; 2017 Feb; 292(5):1573-1590. PubMed ID: 27998977
[TBL] [Abstract][Full Text] [Related]
29. [Identification of a novel mutation at the point of low density lipoprotein receptor gene from a subject with familial hypercholesterolemia].
Liu YR; Tao QM; Chen JZ; Tao M; Guo XG; Shang YP; Zhu JH; Zhang FR; Zheng LR; Wang XX
Sheng Li Xue Bao; 2004 Oct; 56(5):566-72. PubMed ID: 15497035
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Whole-exome sequencing in an extended family with myocardial infarction unmasks familial hypercholesterolemia.
Brænne I; Reiz B; Medack A; Kleinecke M; Fischer M; Tuna S; Hengstenberg C; Deloukas P; Erdmann J; Schunkert H;
BMC Cardiovasc Disord; 2014 Aug; 14():108. PubMed ID: 25154303
[TBL] [Abstract][Full Text] [Related]
32. Compound heterozygous familial hypercholesterolemia in a Chinese boy with a de novo and transmitted low-density lipoprotein receptor mutation.
Ma Y; Gong Y; Garg A; Zhou H
J Clin Lipidol; 2018; 12(1):230-235.e6. PubMed ID: 29233637
[TBL] [Abstract][Full Text] [Related]
33. Lipoprotein(a) in Familial Hypercholesterolemia With Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) Gain-of-Function Mutations.
Tada H; Kawashiri MA; Yoshida T; Teramoto R; Nohara A; Konno T; Inazu A; Mabuchi H; Yamagishi M; Hayashi K
Circ J; 2016; 80(2):512-8. PubMed ID: 26632531
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with familial hypercholesterolemia: A single center real-world study.
Iannuzzo G; Buonaiuto A; Calcaterra I; Gentile M; Forte F; Tripaldella M; Di Taranto MD; Giacobbe C; Fortunato G; Rubba PO; Di Minno MND
Nutr Metab Cardiovasc Dis; 2022 Mar; 32(3):684-691. PubMed ID: 34991937
[TBL] [Abstract][Full Text] [Related]
36. Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.
Wang H; Yang H; Liu Z; Cui K; Zhang Y; Zhang Y; Zhao K; Yin K; Li W; Zhou Z
J Atheroscler Thromb; 2020 Dec; 27(12):1288-1298. PubMed ID: 32759540
[TBL] [Abstract][Full Text] [Related]
37. Pharmacogenetic aspects in familial hypercholesterolemia with the special focus on FHMarburg (FH p.W556R).
Schaefer JR; Kurt B; Sattler A; Klaus G; Soufi M
Clin Res Cardiol Suppl; 2012 Jun; 7(Suppl 1):2-6. PubMed ID: 22528129
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. 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]
40. Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.
Brænne I; Kleinecke M; Reiz B; Graf E; Strom T; Wieland T; Fischer M; Kessler T; Hengstenberg C; Meitinger T; Erdmann J; Schunkert H
Eur J Hum Genet; 2016 Feb; 24(2):191-7. PubMed ID: 26036859
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]