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2. Mutation screening in patients for familial hypercholesterolaemia (ADH). Taylor A; Patel K; Tsedeke J; Humphries SE; Norbury G Clin Genet; 2010 Jan; 77(1):97-9. PubMed ID: 19843101 [No Abstract] [Full Text] [Related]
3. The LDLR variant T705I does not cause the typical phenotype of familial hypercholesterolaemia. Graham CA; Wright WT; McIlhatton BP; Young IS; Nicholls DP Atherosclerosis; 2006 Sep; 188(1):218-9. PubMed ID: 16735037 [No Abstract] [Full Text] [Related]
4. Familial hypercholesterolaemia: A global call to arms. Vallejo-Vaz AJ; Kondapally Seshasai SR; Cole D; Hovingh GK; Kastelein JJ; Mata P; Raal FJ; Santos RD; Soran H; Watts GF; Abifadel M; Aguilar-Salinas CA; Akram A; Alnouri F; Alonso R; Al-Rasadi K; Banach M; Bogsrud MP; Bourbon M; Bruckert E; Car J; Corral P; Descamps O; Dieplinger H; Durst R; Freiberger T; Gaspar IM; Genest J; Harada-Shiba M; Jiang L; Kayikcioglu M; Lam CS; Latkovskis G; Laufs U; Liberopoulos E; Nilsson L; Nordestgaard BG; O'Donoghue JM; Sahebkar A; Schunkert H; Shehab A; Stoll M; Su TC; Susekov A; Widén E; Catapano AL; Ray KK Atherosclerosis; 2015 Nov; 243(1):257-9. PubMed ID: 26408930 [No Abstract] [Full Text] [Related]
5. 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]
6. Novel Data on the Prevalence, Identification, Scouting, and Treatment of Familial Hypercholesterolaemia. Doumas M; Imprialos K; Stavropoulos K; Athyros VG Curr Pharm Des; 2018; 24(31):3597-3598. PubMed ID: 30642238 [No Abstract] [Full Text] [Related]
7. Analysis of the Afrikaner mutation in exon 9 of the low-density lipoprotein receptor gene in a large Dutch kindred suffering from familial hypercholesterolaemia. Defesche JC; Lansberg PJ; Reymer PW; Lamping RJ; Kastelein JJ Neth J Med; 1993 Feb; 42(1-2):53-60. PubMed ID: 8446226 [TBL] [Abstract][Full Text] [Related]
8. Estimation of heritability of familial hypercholesterolemia among 335 family members of five hypercholesterolemic probands of Pakistani population. Imtiaz F J Ayub Med Coll Abbottabad; 2009; 21(1):58-61. PubMed ID: 20364742 [TBL] [Abstract][Full Text] [Related]
9. Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece. Diakou M; Miltiadous G; Xenophontos SL; Manoli P; Cariolou MA; Elisaf M Eur J Intern Med; 2011 Oct; 22(5):e55-9. PubMed ID: 21925044 [TBL] [Abstract][Full Text] [Related]
10. Common founder mutation in the LDL receptor gene causing familial hypercholesterolaemia in the Icelandic population. Gudnason V; Sigurdsson G; Nissen H; Humphries SE Hum Mutat; 1997; 10(1):36-44. PubMed ID: 9222758 [TBL] [Abstract][Full Text] [Related]
11. Genetic screening for familial hypercholesterolaemia in Hong Kong. Tan K; Cheung CL; Yeung CY; Siu D; Leung J; Pang HK Hong Kong Med J; 2018 Jun; 24 Suppl 3(3):7-10. PubMed ID: 29937437 [No Abstract] [Full Text] [Related]
12. Detection of the apolipoprotein B-100 arg(3500) > gl mutation in familial defective apoB-100 by temperature-gradient gel electrophoresis. Koch M; Pfohl M; Enderle M; Schnauder G; Seif FJ Z Gastroenterol; 1996 Jun; 34 Suppl 3():16-8. PubMed ID: 8767448 [TBL] [Abstract][Full Text] [Related]
13. Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia. Muller PY; Miserez AR Atheroscler Suppl; 2004 Dec; 5(5):1-5. PubMed ID: 15556092 [TBL] [Abstract][Full Text] [Related]
14. Genetic screening of patients with familial hypercholesterolaemia (FH): a New Zealand perspective. Laurie AD; Scott RS; George PM Atheroscler Suppl; 2004 Dec; 5(5):13-5. PubMed ID: 15556094 [TBL] [Abstract][Full Text] [Related]
15. [Molecular biology in the diagnosis and phenotypic expression of familial hypercholesterolemia in French Canadians]. Vohl MC; Moorjani S Union Med Can; 1995 Sep; 124(2):48-53. PubMed ID: 8846257 [No Abstract] [Full Text] [Related]
16. Characterization and geographic distribution of the low density lipoprotein receptor (LDLR) gene mutations in northwestern Greece. Miltiadous G; Elisaf M; Bairaktari H; Xenophontos SL; Manoli P; Cariolou MA Hum Mutat; 2001 May; 17(5):432-3. PubMed ID: 11317361 [TBL] [Abstract][Full Text] [Related]
17. [Application of gene technology in the diagnosis of familial hypercholesterolemia]. Leren TP; Bakken KS; Rødningen OK; Gundersen KE; Sundvold H; Berg K; Tonstad S; Ose L Tidsskr Nor Laegeforen; 1997 Feb; 117(5):678-81. PubMed ID: 9102960 [TBL] [Abstract][Full Text] [Related]
18. Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia. Defesche JC; Van Diermen DE; Hayden MR; Kastelein JP Gene Geogr; 1996 Apr; 10(1):1-10. PubMed ID: 8913716 [TBL] [Abstract][Full Text] [Related]
19. Results from a family and DNA based active identification programme for familial hypercholesterolaemia. ten Asbroek AH; de Mheen PJ; Defesche JC; Kastelein JJ; Gunning-Schepers LJ J Epidemiol Community Health; 2001 Jul; 55(7):500-2. PubMed ID: 11413180 [No Abstract] [Full Text] [Related]
20. Heterozygous familial hypercholesterolemia: a new point-mutation (1372del2) in the LDL-receptor gene which causes severe hypercholesterolemia. Widhalm K; Iro C; Lindemayr A; Schmidt H; Kostner G Hum Mutat; 1999 Oct; 14(4):357. PubMed ID: 10502834 [No Abstract] [Full Text] [Related] [Next] [New Search]