123 related articles for article (PubMed ID: 29153781)
1. Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred.
Spina R; Noto D; Barbagallo CM; Monastero R; Ingrassia V; Valenti V; Baschi R; Pipitone A; Giammanco A; La Spada MP; Misiano G; Scrimali C; Cefalù AB; Averna MR
J Clin Lipidol; 2018; 12(1):145-151. PubMed ID: 29153781
[TBL] [Abstract][Full Text] [Related]
2. Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia.
Filigheddu F; Quagliarini F; Campagna F; Secci T; Degortes S; Zaninello R; Argiolas G; Verna R; Pitzoi S; Frau F; Troffa C; Bulla E; Bertolini S; Glorioso N; Arca M
Atherosclerosis; 2009 Nov; 207(1):162-7. PubMed ID: 19477448
[TBL] [Abstract][Full Text] [Related]
3. Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis.
Arca M; Zuliani G; Wilund K; Campagna F; Fellin R; Bertolini S; Calandra S; Ricci G; Glorioso N; Maioli M; Pintus P; Carru C; Cossu F; Cohen J; Hobbs HH
Lancet; 2002 Mar; 359(9309):841-7. PubMed ID: 11897284
[TBL] [Abstract][Full Text] [Related]
4. Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH).
Fellin R; Zuliani G; Arca M; Pintus P; Pacifico A; Montali A; Corsini A; Maioli M
Nutr Metab Cardiovasc Dis; 2003 Oct; 13(5):278-86. PubMed ID: 14717060
[TBL] [Abstract][Full Text] [Related]
5. The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification.
Fellin R; Arca M; Zuliani G; Calandra S; Bertolini S
Gene; 2015 Jan; 555(1):23-32. PubMed ID: 25225128
[TBL] [Abstract][Full Text] [Related]
6. Autosomal recessive hypercholesterolemia: Case report.
Petrulioniene Z; Gargalskaite U; Mikstiene V; Norvilas R; Skiauteryte E; Utkus A
J Clin Lipidol; 2019; 13(6):887-893. PubMed ID: 31734096
[TBL] [Abstract][Full Text] [Related]
7. Autosomal recessive hypercholesterolemia in Spain.
Sánchez-Hernández RM; Prieto-Matos P; Civeira F; Lafuente EE; Vargas MF; Real JT; Goicoechea FG; Fuentes FJ; Pocovi M; Boronat M; Wägner AM; Masana L
Atherosclerosis; 2018 Feb; 269():1-5. PubMed ID: 29245109
[TBL] [Abstract][Full Text] [Related]
8. Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.
Pisciotta L; Priore Oliva C; Pes GM; Di Scala L; Bellocchio A; Fresa R; Cantafora A; Arca M; Calandra S; Bertolini S
Atherosclerosis; 2006 Oct; 188(2):398-405. PubMed ID: 16343504
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene.
Quagliarini F; Vallvé JC; Campagna F; Alvaro A; Fuentes-Jimenez FJ; Sirinian MI; Meloni F; Masana L; Arca M
Mol Genet Metab; 2007 Nov; 92(3):243-8. PubMed ID: 17686643
[TBL] [Abstract][Full Text] [Related]
12. Proprotein Convertase Subtilisin Kexin Type 9 Inhibition for Autosomal Recessive Hypercholesterolemia-Brief Report.
Thedrez A; Sjouke B; Passard M; Prampart-Fauvet S; Guédon A; Croyal M; Dallinga-Thie G; Peter J; Blom D; Ciccarese M; Cefalù AB; Pisciotta L; Santos RD; Averna M; Raal F; Pintus P; Cossu M; Hovingh K; Lambert G
Arterioscler Thromb Vasc Biol; 2016 Aug; 36(8):1647-50. PubMed ID: 27079874
[TBL] [Abstract][Full Text] [Related]
13. Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein.
Garcia CK; Wilund K; Arca M; Zuliani G; Fellin R; Maioli M; Calandra S; Bertolini S; Cossu F; Grishin N; Barnes R; Cohen JC; Hobbs HH
Science; 2001 May; 292(5520):1394-8. PubMed ID: 11326085
[TBL] [Abstract][Full Text] [Related]
14. Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene.
Barbagallo CM; Emmanuele G; Cefalù AB; Fiore B; Noto D; Mazzarino MC; Pace A; Brogna A; Rizzo M; Corsini A; Notarbartolo A; Travali S; Averna MR
Atherosclerosis; 2003 Feb; 166(2):395-400. PubMed ID: 12535754
[TBL] [Abstract][Full Text] [Related]
15. Autosomal recessive hypercholesterolaemia: discrimination of ARH protein and LDLR function in the homozygous FH phenotype.
Abera AB; Marais AD; Raal FJ; Leisegang F; Jones S; George P; Henderson HE
Clin Chim Acta; 2007 Mar; 378(1-2):33-7. PubMed ID: 17150201
[TBL] [Abstract][Full Text] [Related]
16. Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández RM; Civeira F; Stef M; Perez-Calahorra S; Almagro F; Plana N; Novoa FJ; Sáenz-Aranzubía P; Mosquera D; Soler C; Fuentes FJ; Brito-Casillas Y; Real JT; Blanco-Vaca F; Ascaso JF; Pocovi M
Circ Cardiovasc Genet; 2016 Dec; 9(6):504-510. PubMed ID: 27784735
[TBL] [Abstract][Full Text] [Related]
17. Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
Stitziel NO; Fouchier SW; Sjouke B; Peloso GM; Moscoso AM; Auer PL; Goel A; Gigante B; Barnes TA; Melander O; Orho-Melander M; Duga S; Sivapalaratnam S; Nikpay M; Martinelli N; Girelli D; Jackson RD; Kooperberg C; Lange LA; Ardissino D; McPherson R; Farrall M; Watkins H; Reilly MP; Rader DJ; de Faire U; Schunkert H; Erdmann J; Samani NJ; Charnas L; Altshuler D; Gabriel S; Kastelein JJ; Defesche JC; Nederveen AJ; Kathiresan S; Hovingh GK;
Arterioscler Thromb Vasc Biol; 2013 Dec; 33(12):2909-14. PubMed ID: 24072694
[TBL] [Abstract][Full Text] [Related]
18. Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia.
Buonuomo PS; Iughetti L; Pisciotta L; Rabacchi C; Papadia F; Bruzzi P; Tummolo A; Bartuli A; Cortese C; Bertolini S; Calandra S
Atherosclerosis; 2017 Jul; 262():71-77. PubMed ID: 28521186
[TBL] [Abstract][Full Text] [Related]
19. Autosomal recessive hypercholesterolemia in a kindred of Syrian ancestry.
Martinsen MH; Klausen IC; Tybjaerg-Hansen A; Hedegaard BS
J Clin Lipidol; 2020; 14(4):419-424. PubMed ID: 32636080
[TBL] [Abstract][Full Text] [Related]
20. Autosomal recessive hypercholesterolemia.
Soutar AK; Naoumova RP
Semin Vasc Med; 2004 Aug; 4(3):241-8. PubMed ID: 15630633
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]