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.
43. Detection of the Pro664-Leu mutation in the low-density lipoprotein receptor and its relation to lipoprotein(a) levels in patients with familial hypercholesterolemia of Dutch ancestry from The Netherlands and Canada. Defesche JC, van de Ree MA, Kastelein JJ, van Diermen DE, Janssens NW, van Doormaal JJ, Hayden MR. Clin Genet; 1992 Dec; 42(6):273-80. PubMed ID: 1493640 [Abstract] [Full Text] [Related]
44. LDL-receptor mutations in Europe. Dedoussis GV, Schmidt H, Genschel J. Hum Mutat; 2004 Dec; 24(6):443-59. PubMed ID: 15523646 [Abstract] [Full Text] [Related]
46. Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia. Civeira F, Ros E, Jarauta E, Plana N, Zambon D, Puzo J, Martinez de Esteban JP, Ferrando J, Zabala S, Almagro F, Gimeno JA, Masana L, Pocovi M. Am J Cardiol; 2008 Nov 01; 102(9):1187-93, 1193.e1. PubMed ID: 18940289 [Abstract] [Full Text] [Related]
47. Preemptive liver transplantation in a child with familial hypercholesterolemia. Maiorana A, Nobili V, Calandra S, Francalanci P, Bernabei S, El Hachem M, Monti L, Gennari F, Torre G, de Ville de Goyet J, Bartuli A. Pediatr Transplant; 2011 Mar 01; 15(2):E25-9. PubMed ID: 20846238 [Abstract] [Full Text] [Related]
48. Two novel mutations in exon 3 and 4 of low density lipoprotein (LDL) receptor gene in patients with heterozygous familial hypercholesterolemia. Khan SP, Ghani R, Ahmed KZ, Yaqoob Z. J Coll Physicians Surg Pak; 2011 Jul 01; 21(7):403-6. PubMed ID: 21777527 [Abstract] [Full Text] [Related]
50. A combined LDL receptor/LDL receptor adaptor protein 1 mutation as the cause for severe familial hypercholesterolemia. Soufi M, Rust S, Walter M, Schaefer JR. Gene; 2013 May 25; 521(1):200-3. PubMed ID: 23510778 [Abstract] [Full Text] [Related]
52. Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. Huijgen R, Kindt I, Fouchier SW, Defesche JC, Hutten BA, Kastelein JJ, Vissers MN. Hum Mutat; 2010 Jun 25; 31(6):752-60. PubMed ID: 20506408 [Abstract] [Full Text] [Related]
53. Effect of Statin Therapy in 4-Year-Old Dichorionic Diamniotic Twins with Familial Hypercholesterolemia Showing Multiple Xanthomas. Miyagi Y, Harada-Shiba M, Ohta T. J Atheroscler Thromb; 2016 Jun 25; 23(1):112-7. PubMed ID: 26510755 [Abstract] [Full Text] [Related]
54. [LDL receptors]. Ducobu J. Rev Med Brux; 1990 Dec 25; 11(10):481-92. PubMed ID: 2293288 [Abstract] [Full Text] [Related]
55. Molecular basis of familial hypercholesterolemia. Russell DW, Esser V, Hobbs HH. Arteriosclerosis; 1989 Dec 25; 9(1 Suppl):I8-13. PubMed ID: 2643429 [Abstract] [Full Text] [Related]
56. Familial hypercholesterolemia in Utah kindred with novel 2412-6 Ins G mutations in exon 17 of the LDL receptor gene. Nobe Y, Emi M, Katsumata H, Nakajima T, Hirayama T, Wu LL, Stephenson SH, Hopkins PN, Williams RR. Jpn Heart J; 1999 Jul 25; 40(4):435-41. PubMed ID: 10611908 [Abstract] [Full Text] [Related]
57. Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation. Fahed AC, Safa RM, Haddad FF, Bitar FF, Andary RR, Arabi MT, Azar ST, Nemer G. Mol Genet Metab; 2011 Feb 25; 102(2):181-8. PubMed ID: 21145767 [Abstract] [Full Text] [Related]
58. Flow cytometric measurement of low density lipoprotein receptor activity validated by DNA analysis in diagnosing heterozygous familial hypercholesterolemia. Urdal P, Leren TP, Tonstad S, Lund PK, Ose L. Cytometry; 1997 Oct 15; 30(5):264-8. PubMed ID: 9383100 [Abstract] [Full Text] [Related]
59. Differences in characteristics and risk of cardiovascular disease in familial hypercholesterolemia patients with and without tendon xanthomas: a systematic review and meta-analysis. Oosterveer DM, Versmissen J, Yazdanpanah M, Hamza TH, Sijbrands EJ. Atherosclerosis; 2009 Dec 15; 207(2):311-7. PubMed ID: 19439299 [Abstract] [Full Text] [Related]
60. [Clinico-pathological evaluation of patients with homozygous familial hypercholesterolemia]. D'Armiento FP, Di Gregorio F, Napoli C, Colasanti P, Posca T, Calì A. Recenti Prog Med; 1991 Sep 15; 82(9):443-8. PubMed ID: 1745828 [Abstract] [Full Text] [Related] Page: [Previous] [Next] [New Search]