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28. Diagnosis of familial hypercholesterolemia in general practice using clinical diagnostic criteria or genetic testing as part of cascade genetic screening. Leren TP; Finborud TH; Manshaus TE; Ose L; Berge KE Community Genet; 2008; 11(1):26-35. PubMed ID: 18196915 [TBL] [Abstract][Full Text] [Related]
29. Effectiveness of screening for known mutations in Sicilian patients with "probable" familial hypercholesterolemia. Cefalù AB; Emmanuele G; Marino G; Fiore B; Caldarella R; Vivona N; Noto D; Barbagallo CM; Costa S; Gueli MC; Bertolini S; Notarbartolo A; Travali S; Averna MR Nutr Metab Cardiovasc Dis; 2001 Dec; 11(6):394-400. PubMed ID: 12055704 [TBL] [Abstract][Full Text] [Related]
30. 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]
32. [Direct detection of mutations in the LDL receptor gene in patients with familial hypercholesterolemia]. Freiberger T; Kuhrová V; Kozák L; Soska V; Pekarík V; Mĕrínská L; Fajkusová L; Francová H Cas Lek Cesk; 1998 Dec; 137(24):750-2. PubMed ID: 10081189 [TBL] [Abstract][Full Text] [Related]
33. Oligonucleotide ligation assay (OLA) for the diagnosis of familial hypercholesterolemia. Baron H; Fung S; Aydin A; Bähring S; Luft FC; Schuster H Nat Biotechnol; 1996 Oct; 14(10):1279-82. PubMed ID: 9631093 [TBL] [Abstract][Full Text] [Related]
34. Haplotype of the angiotensinogen gene is associated with coronary heart disease in familial hypercholesterolemia. van der Net JB; Isaacs A; Dallinga-Thie GM; Kastelein JJ; Defesche JC; Steyerberg EW; Sijbrands EJ J Hypertens; 2008 Mar; 26(3):462-7. PubMed ID: 18300856 [TBL] [Abstract][Full Text] [Related]
35. 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]
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37. Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics. Van Gaal LF; Peeters AV; De Block CE; de Leeuw IH; Thiart R; Kotze MJ Mol Cell Probes; 2001 Dec; 15(6):329-36. PubMed ID: 11851376 [TBL] [Abstract][Full Text] [Related]
38. Autosomal recessive hypercholesterolemia in three sisters with phenotypic homozygous familial hypercholesterolemia: diagnostic and therapeutic procedures. Thomas HP; Vogt A; Wilund KR; Schliesser C; Steinhagen-Thiessen E; Kassner U Ther Apher Dial; 2004 Aug; 8(4):275-80. PubMed ID: 15274677 [TBL] [Abstract][Full Text] [Related]