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Review 1. Monogenic hypercholesterolemia: new insights in pathogenesis and treatment.

Authors: Daniel J Rader; Jonathan Cohen; Helen H Hobbs
Journal: J Clin Invest Date: 2003-06 Impact factor: 14.808

2. Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia.

Authors: Christopher Jones; Rita Garuti; Peter Michaely; Wei-Ping Li; Nobuyo Maeda; Jonathan C Cohen; Joachim Herz; Helen H Hobbs
Journal: J Clin Invest Date: 2007-01 Impact factor: 14.808

3. A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia.

Authors: Samuel Canizales-Quinteros; Carlos A Aguilar-Salinas; Adriana Huertas-Vázquez; María L Ordóñez-Sánchez; Maribel Rodríguez-Torres; José L Venturas-Gallegos; Laura Riba; Salvador Ramírez-Jimenez; Rocío Salas-Montiel; Giovani Medina-Palacios; Ludivina Robles-Osorio; Angel Miliar-García; Luis Rosales-León; Blanca H Ruiz-Ordaz; Alejandro Zentella-Dehesa; Adrian Ferré-D'Amare; Francisco J Gómez-Pérez; Ma Teresa Tusié-Luna
Journal: Hum Genet Date: 2004-11-17 Impact factor: 4.132

4. [Corneal arcus and hyperlipoproteinemia (author's transl)].

Authors: M R Parwaresch; H Haacke; C Mäder; C Godt
Journal: Klin Wochenschr Date: 1976-05-15

5. Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Authors: Zahid Ahmad; Beverley Adams-Huet; Chiyuan Chen; Abhimanyu Garg
Journal: Circ Cardiovasc Genet Date: 2012-10-11

6. Common low-density lipoprotein receptor mutations in the French Canadian population.

Authors: E Leitersdorf; E J Tobin; J Davignon; H H Hobbs
Journal: J Clin Invest Date: 1990-04 Impact factor: 14.808

7. Common and rare gene variants affecting plasma LDL cholesterol.

Authors: John R Burnett; Amanda J Hooper
Journal: Clin Biochem Rev Date: 2008-02

8. Treatment of familial hypercholesterolemia by portacaval anastomosis: effect on cholesterol metabolism and pool sizes.

Authors: D J McNamara; E H Ahrens; R Kolb; C D Brown; T S Parker; N O Davidson; P Samuel; R M McVie
Journal: Proc Natl Acad Sci U S A Date: 1983-01 Impact factor: 11.205

9. Prenatal diagnosis of familial hypercholesterolemia caused by the "Lebanese" mutation at the low density lipoprotein receptor locus.

Authors: A Reshef; V Meiner; E J Dann; M Granat; E Leitersdorf
Journal: Hum Genet Date: 1992-05 Impact factor: 4.132

10. Hypercholesterolemia in five Israeli Christian-Arab kindreds is caused by the "Lebanese" allele at the low density lipoprotein receptor gene locus and by an additional independent major factor.

Authors: A Oppenheim; Y Friedlander; E J Dann; N Berkman; S P Schwartz; E Leitersdorf
Journal: Hum Genet Date: 1991-11 Impact factor: 4.132