482 related articles for article (PubMed ID: 36011335)
1. 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]
2. 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]
3. Use of next-generation sequencing to detect
Iacocca MA; Wang J; Dron JS; Robinson JF; McIntyre AD; Cao H; Hegele RA
J Lipid Res; 2017 Nov; 58(11):2202-2209. PubMed ID: 28874442
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.
Madar L; Juhász L; Szűcs Z; Kerkovits L; Harangi M; Balogh I
Genes (Basel); 2022 Jan; 13(1):. PubMed ID: 35052492
[TBL] [Abstract][Full Text] [Related]
6. Genetic analysis of familial hypercholesterolemia in Asian Indians: A single-center study.
Setia N; Movva S; Balakrishnan P; Biji IK; Sawhney JPS; Puri R; Arora A; Puri RD; Saxena R; Mishra S; Apte S; Kulshrestha S; Ramprasad VL; Verma IC
J Clin Lipidol; 2020; 14(1):35-45. PubMed ID: 32044282
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Whole-Gene Duplication of PCSK9 as a Novel Genetic Mechanism for Severe Familial Hypercholesterolemia.
Iacocca MA; Wang J; Sarkar S; Dron JS; Lagace T; McIntyre AD; Lau P; Robinson JF; Yang P; Knoll JH; Cao H; McPherson R; Hegele RA
Can J Cardiol; 2018 Oct; 34(10):1316-1324. PubMed ID: 30269829
[TBL] [Abstract][Full Text] [Related]
9. Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.
Totoń-Żurańska J; Wołkow P; Kapusta M; Wójcik M; Starzyk J; Kawalec E; Idzior-Waluś B; Waluś-Miarka M
Pol Arch Intern Med; 2023 Jun; 133(6):. PubMed ID: 36648309
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. 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]
14. Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Huang CC; Niu DM; Charng MJ
J Atheroscler Thromb; 2022 May; 29(5):639-653. PubMed ID: 33994402
[TBL] [Abstract][Full Text] [Related]
15. A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia.
Reeskamp LF; Hartgers ML; Peter J; Dallinga-Thie GM; Zuurbier L; Defesche JC; Grefhorst A; Hovingh GK
Circ Genom Precis Med; 2018 Dec; 11(12):e002385. PubMed ID: 30562117
[TBL] [Abstract][Full Text] [Related]
16. Identification of a novel large duplication (exon2_6dup): copy number variation in the LDLR gene in a large family with familial hypercholesterolemia by whole-genome sequencing.
Hori M; Takahashi A; Hosoda K; Harada-Shiba M
J Clin Lipidol; 2022; 16(2):167-172. PubMed ID: 35131226
[TBL] [Abstract][Full Text] [Related]
17. Intronic variant screening with targeted next-generation sequencing reveals first pseudoexon in LDLR in familial hypercholesterolemia.
Reeskamp LF; Balvers M; Peter J; van de Kerkhof L; Klaaijsen LN; Motazacker MM; Grefhorst A; van Riel NAW; Hovingh GK; Defesche JC; Zuurbier L
Atherosclerosis; 2021 Mar; 321():14-20. PubMed ID: 33601267
[TBL] [Abstract][Full Text] [Related]
18. Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.
Benedek P; Jiao H; Duvefelt K; Skoog T; Linde M; Kiviluoma P; Kere J; Eriksson M; Angelin B
J Intern Med; 2021 Aug; 290(2):404-415. PubMed ID: 33955087
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. The island of Gran Canaria: A genetic isolate for familial hypercholesterolemia.
Sánchez-Hernández RM; Tugores A; Nóvoa FJ; Brito-Casillas Y; Expósito-Montesdeoca AB; Garay P; Bea AM; Riaño M; Pocovi M; Civeira F; Wägner AM; Boronat M
J Clin Lipidol; 2019; 13(4):618-626. PubMed ID: 31153816
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
