115 related articles for article (PubMed ID: 28323660)
21. Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
Fouchier SW; Kastelein JJ; Defesche JC
Hum Mutat; 2005 Dec; 26(6):550-6. PubMed ID: 16250003
[TBL] [Abstract][Full Text] [Related]
22. APOE gene variants in primary dyslipidemia.
Khalil YA; Rabès JP; Boileau C; Varret M
Atherosclerosis; 2021 Jul; 328():11-22. PubMed ID: 34058468
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
Allard D; Amsellem S; Abifadel M; Trillard M; Devillers M; Luc G; Krempf M; Reznik Y; Girardet JP; Fredenrich A; Junien C; Varret M; Boileau C; Benlian P; Rabès JP
Hum Mutat; 2005 Nov; 26(5):497. PubMed ID: 16211558
[TBL] [Abstract][Full Text] [Related]
25. Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.
Saint-Jore B; Varret M; Dachet C; Rabès JP; Devillers M; Erlich D; Blanchard P; Krempf M; Mathé D; Chanu B; Jacotot B; Farnier M; Bonaïti-Péllié C; Junien C; Boileau C
Eur J Hum Genet; 2000 Aug; 8(8):621-30. PubMed ID: 10952765
[TBL] [Abstract][Full Text] [Related]
26. Increased intestinal cholesterol absorption in autosomal dominant hypercholesterolemia and no mutations in the low-density lipoprotein receptor or apolipoprotein B genes.
García-Otín AL; Cofán M; Junyent M; Recalde D; Cenarro A; Pocoví M; Ros E; Civeira F
J Clin Endocrinol Metab; 2007 Sep; 92(9):3667-73. PubMed ID: 17566095
[TBL] [Abstract][Full Text] [Related]
27. Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.
Vaca G; Vàzquez A; Magaña MT; Ramìrez ML; Dàvalos IP; Martìnez E; Marìn B; Carrillo G
Atherosclerosis; 2011 Oct; 218(2):391-6. PubMed ID: 21722902
[TBL] [Abstract][Full Text] [Related]
28. Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.
Fouchier SW; Dallinga-Thie GM; Meijers JC; Zelcer N; Kastelein JJ; Defesche JC; Hovingh GK
Circ Res; 2014 Aug; 115(6):552-5. PubMed ID: 25035151
[TBL] [Abstract][Full Text] [Related]
29. Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.
Fouchier SW; Hutten BA; Defesche JC
J Med Genet; 2015 Feb; 52(2):80-4. PubMed ID: 25412742
[TBL] [Abstract][Full Text] [Related]
30. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.
Sjouke B; Kusters DM; Kindt I; Besseling J; Defesche JC; Sijbrands EJ; Roeters van Lennep JE; Stalenhoef AF; Wiegman A; de Graaf J; Fouchier SW; Kastelein JJ; Hovingh GK
Eur Heart J; 2015 Mar; 36(9):560-5. PubMed ID: 24585268
[TBL] [Abstract][Full Text] [Related]
31. [Familial hypercholesterolemia in Tunisia].
Jelassi A; Jguirim I; Najah M; Maatouk F; Ben Hamda K; Slimane MN
Pathol Biol (Paris); 2009 Jul; 57(5):444-50. PubMed ID: 19041195
[TBL] [Abstract][Full Text] [Related]
32. Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
Garcia-Garcia AB; Ivorra C; Martinez-Hervas S; Blesa S; Fuentes MJ; Puig O; Martín-de-Llano JJ; Carmena R; Real JT; Chaves FJ
Atherosclerosis; 2011 Oct; 218(2):423-30. PubMed ID: 21868016
[TBL] [Abstract][Full Text] [Related]
33. A new PCSK9 gene promoter variant affects gene expression and causes autosomal dominant hypercholesterolemia.
Blesa S; Vernia S; Garcia-Garcia AB; Martinez-Hervas S; Ivorra C; Gonzalez-Albert V; Ascaso JF; Martín-Escudero JC; Real JT; Carmena R; Casado M; Chaves FJ
J Clin Endocrinol Metab; 2008 Sep; 93(9):3577-83. PubMed ID: 18559913
[TBL] [Abstract][Full Text] [Related]
34. An NPC1L1 gene promoter variant is associated with autosomal dominant hypercholesterolemia.
Martín B; Solanas-Barca M; García-Otín AL; Pampín S; Cofán M; Ros E; Rodríguez-Rey JC; Pocoví M; Civeira F
Nutr Metab Cardiovasc Dis; 2010 May; 20(4):236-42. PubMed ID: 19747803
[TBL] [Abstract][Full Text] [Related]
35. APOE and familial hypercholesterolemia.
Civeira F; Martín C; Cenarro A
Curr Opin Lipidol; 2024 Aug; 35(4):195-199. PubMed ID: 38640077
[TBL] [Abstract][Full Text] [Related]
36. Identification and Functional Analysis of
Rodríguez-Jiménez C; de la Peña G; Sanguino J; Poyatos-Peláez S; Carazo A; Martínez-Hernández PL; Arrieta F; Mostaza JM; Gómez-Coronado D; Rodríguez-Nóvoa S
Int J Mol Sci; 2023 Apr; 24(8):. PubMed ID: 37108800
[TBL] [Abstract][Full Text] [Related]
37. Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.
Ahmad Z; Adams-Huet B; Chen C; Garg A
Circ Cardiovasc Genet; 2012 Dec; 5(6):666-75. PubMed ID: 23064986
[TBL] [Abstract][Full Text] [Related]
38. Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: integration and evolution of genetic diagnosis.
Di Taranto MD; D'Agostino MN; Fortunato G
Nutr Metab Cardiovasc Dis; 2015 Nov; 25(11):979-87. PubMed ID: 26165249
[TBL] [Abstract][Full Text] [Related]
39. 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
[TBL] [Abstract][Full Text] [Related]
40. Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.
Fernández-Higuero JA; Etxebarria A; Benito-Vicente A; Alves AC; Arrondo JL; Ostolaza H; Bourbon M; Martin C
Sci Rep; 2015 Dec; 5():18184. PubMed ID: 26643808
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]