These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
101 related articles for article (PubMed ID: 11013454)
1. Homozygous familial hypercholesterolemia: A novel point mutation (W556R) in a Turkish patient. Gutierrez G; Schneider A; Jobs J; Schmidt H; Korte A; Manns MP; Stuhrmann M Hum Mutat; 2000 Oct; 16(4):374. PubMed ID: 11013454 [No Abstract] [Full Text] [Related]
2. A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene. Wang D; Wu B; Li Y; Heng W; Zhong H; Mu Y; Wang J J Hum Genet; 2001; 46(3):152-4. PubMed ID: 11310584 [TBL] [Abstract][Full Text] [Related]
4. [Identification of a novel splice mutation of low density lipoprotein receptor gene in a Chinese family with familial hypercholesterolemia]. Lin J; Wang LY; Liu S; Pan XD; Du LP; Shi FR; Qin YW; Zhao Q; Guo HY Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Feb; 21(1):14-8. PubMed ID: 14767901 [TBL] [Abstract][Full Text] [Related]
5. [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]
6. What homozygous familial hypercholesterolemia produces and the will to withstand its complications. Zamirian M Am J Cardiol; 2011 Dec; 108(12):1840-1. PubMed ID: 22133134 [No Abstract] [Full Text] [Related]
7. Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. Emre S; Gürakan F; Yüce A; Rolf A; Scott R; Ozen H Eur J Med Genet; 2008; 51(4):315-21. PubMed ID: 18586596 [TBL] [Abstract][Full Text] [Related]
8. Segregation of a novel LDLR gene mutation (I430T) with familial hypercholesterolaemia in a Greek pedigree. Miltiadous G; Elisaf M; Xenophontos S; Manoli P; Cariolou MA Hum Mutat; 2000 Sep; 16(3):277. PubMed ID: 10980548 [No Abstract] [Full Text] [Related]
10. Eight novel mutations and functional impairments of the LDL receptor in familial hypercholesterolemia in the north of Japan. Hattori H; Hirayama T; Nobe Y; Nagano M; Kujiraoka T; Egashira T; Ishii J; Tsuji M; Emi M J Hum Genet; 2002; 47(2):80-7. PubMed ID: 11916007 [TBL] [Abstract][Full Text] [Related]
11. [Homozygous familial hypercholesterolemia. Presentation of a case]. Augé JM; Balaguer I; Oriol A; Crexells C Rev Esp Cardiol; 1984; 37(2):149-52. PubMed ID: 6235553 [No Abstract] [Full Text] [Related]
12. Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1). Tamary H; Offret H; Dgany O; Foliguet B; Wickramasinghe SN; Krasnov T; Rumilly F; Goujard C; Fénéant-Thibault M; Cynober T; Delaunay J Eur J Haematol; 2008 Mar; 80(3):271-4. PubMed ID: 18081704 [TBL] [Abstract][Full Text] [Related]
13. [Tuberous xanthomas as the first manifestation of homozygous familial hypercholesterolaemia]. Hammami H; Benmously R; Marrak H; Debbiche A; Souissi A; Ayed MB; Fenniche S; Mokhtar I Ann Dermatol Venereol; 2008 Dec; 135(12):892-4. PubMed ID: 19084711 [No Abstract] [Full Text] [Related]
14. Vascular calcifications in homozygote familial hypercholesterolemia. Awan Z; Alrasadi K; Francis GA; Hegele RA; McPherson R; Frohlich J; Valenti D; de Varennes B; Marcil M; Gagne C; Genest J; Couture P Arterioscler Thromb Vasc Biol; 2008 Apr; 28(4):777-85. PubMed ID: 18239150 [TBL] [Abstract][Full Text] [Related]
15. Functional analysis of low-density lipoprotein receptor in homozygous familial hypercholesterolemia patients with novel 1439 C-->T mutation of low-density lipoprotein receptor gene. Lin J; Wang LY; Liu S; Xia JH; Yong Q; Du LP; Pan XD; Xue H; Chen BS; Jiang ZS Chin Med J (Engl); 2008 May; 121(9):776-81. PubMed ID: 18701038 [TBL] [Abstract][Full Text] [Related]
17. Familial homozygous hypercholesterolemia: report of two patients and review of the literature. Sethuraman G; Sugandhan S; Sharma G; Chandramohan K; Chandra NC; Dash SS; Komal A; Sharma VK Pediatr Dermatol; 2007; 24(3):230-4. PubMed ID: 17542869 [TBL] [Abstract][Full Text] [Related]
18. [Case of homozygous familial hypercholesterolemia in a family known for longevity]. Yamashita S; Nozaki S; Hara H; Kameda K; Tokunaga K; Kubo M; Hirobe K; Sudo H; Matsuzawa Y; Ishikawa K Nihon Naika Gakkai Zasshi; 1983 Sep; 72(9):1163-70. PubMed ID: 6663186 [No Abstract] [Full Text] [Related]
19. Aortic stenosis five years after coronary artery bypass grafting in a young patient with homozygous familial hypercholesterolemia. Nemati MH J Heart Valve Dis; 2009 Jan; 18(1):125-7. PubMed ID: 19301565 [TBL] [Abstract][Full Text] [Related]
20. The challenge produced by familial homozygous hypercholesterolemia when treating premature coronary arterial disease in the young. Shankarappa RK; Moorthy N; Bhat SP; Dwarakaprasad R; Nanjappa MC Cardiol Young; 2009 Jun; 19(3):257-63. PubMed ID: 19344536 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]