234 related articles for article (PubMed ID: 34666015)
1. Genetic testing for familial hypercholesterolemia-past, present, and future.
Futema M; Taylor-Beadling A; Williams M; Humphries SE
J Lipid Res; 2021; 62():100139. PubMed ID: 34666015
[TBL] [Abstract][Full Text] [Related]
2. Clinical utility of the polygenic LDL-C SNP score in familial hypercholesterolemia.
Futema M; Bourbon M; Williams M; Humphries SE
Atherosclerosis; 2018 Oct; 277():457-463. PubMed ID: 30270085
[TBL] [Abstract][Full Text] [Related]
3. The molecular genetic basis and diagnosis of familial hypercholesterolemia in Denmark.
Jensen HK
Dan Med Bull; 2002 Nov; 49(4):318-45. PubMed ID: 12553167
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
7. Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia.
Trinder M; Li X; DeCastro ML; Cermakova L; Sadananda S; Jackson LM; Azizi H; Mancini GBJ; Francis GA; Frohlich J; Brunham LR
J Am Coll Cardiol; 2019 Jul; 74(4):512-522. PubMed ID: 31345425
[TBL] [Abstract][Full Text] [Related]
8. Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Durst R; Ibe UK; Shpitzen S; Schurr D; Eliav O; Futema M; Whittall R; Szalat A; Meiner V; Knobler H; Gavish D; Henkin Y; Ellis A; Rubinstein A; Harats D; Bitzur R; Hershkovitz B; Humphries SE; Leitersdorf E
Atherosclerosis; 2017 Feb; 257():55-63. PubMed ID: 28104544
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
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]
13. Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.
Sharifi M; Higginson E; Bos S; Gallivan A; Harvey D; Li KW; Abeysekera A; Haddon A; Ashby H; Shipman KE; Cooper JA; Futema M; Roeters van Lennep JE; Sijbrands EJG; Labib M; Nair D; Humphries SE
Atherosclerosis; 2017 Aug; 263():405-411. PubMed ID: 28549500
[TBL] [Abstract][Full Text] [Related]
14. Polygenic contribution for familial hypercholesterolemia (FH).
Medeiros AM; Bourbon M
Curr Opin Lipidol; 2021 Dec; 32(6):392-395. PubMed ID: 34751168
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing.
Borges JB; Oliveira VF; Dagli-Hernandez C; Ferreira GM; Barbosa TKAA; da Silva Rodrigues Marçal E; Los B; Malaquias VB; Bortolin RH; Freitas RCC; Mori AA; Bastos GM; Gonçalves RM; Araújo DB; Zatz H; Bertolami A; Faludi AA; Bertolami MC; de Moraes Rego Souza AG; França JÍD; Thurow HS; Hirata TDC; Nakaya HTI; Jannes CE; da Costa Pereira A; Silbiger VN; Luchessi AD; Araújo JNG; Nakazone MA; Carmo TS; Souza DRS; Moriel P; Wang JYT; Naslavsky MS; Gorjão R; Pithon-Curi TC; Curi R; Fajardo CM; Wang HL; Garófalo AR; Cerda A; Sampaio MF; Hirata RDC; Hirata MH
Gene; 2023 Jul; 875():147501. PubMed ID: 37217153
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.
Mariano C; Alves AC; Medeiros AM; Chora JR; Antunes M; Futema M; Humphries SE; Bourbon M
Clin Genet; 2020 Mar; 97(3):457-466. PubMed ID: 31893465
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]