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Items: 1 to 20 of 500

1.
Decreased Bone Mineral Density in Subjects Carrying Familial Defective Apolipoprotein B-100
Laura M. Yerges-Armstrong, Haiqing Shen, Kathleen A. Ryan, Elizabeth A. Streeten, Alan R. Shuldiner, Braxton D. Mitchell
J Clin Endocrinol Metab. 2013 Dec; 98(12): E1999–E2005. Published online 2013 Oct 8. doi: 10.1210/jc.2013-2471
PMCID:
PMC3849668
AbstractArticle
2.
Familial Defective Apolipoprotein B-100 and Increased Low-Density Lipoprotein Cholesterol and Coronary Artery Calcification in the Old Order Amish
Haiqing Shen, Coleen M. Damcott, Evadnie Rampersaud, Toni I. Pollin, Richard B. Horenstein, Patrick F. McArdle, Patricia A. Peyser, Lawrence F. Bielak, Wendy S. Post, Yen-Pei C. Chang, Kathleen A. Ryan, Michael Miller, John A. Rumberger, Patrick F. Sheedy, II, John Shelton, Jeffrey R. O’Connell, Alan R. Shuldiner, Braxton D. Mitchell
Arch Intern Med. Author manuscript; available in PMC 2013 Mar 4.
Published in final edited form as: Arch Intern Med. 2010 Nov 8; 170(20): 1850–1855. doi: 10.1001/archinternmed.2010.384
PMCID:
PMC3587042
AbstractArticlePDF–913K
3.
Familial defective apolipoprotein B-100: low density lipoproteins with abnormal receptor binding.
T L Innerarity, K H Weisgraber, K S Arnold, R W Mahley, R M Krauss, G L Vega, S M Grundy
Proc Natl Acad Sci U S A. 1987 Oct; 84(19): 6919–6923. doi: 10.1073/pnas.84.19.6919
PMCID:
PMC299196
SummaryPage BrowsePDF–1.0M
4.
Accumulation of "small dense" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor.
W März, M W Baumstark, H Scharnagl, V Ruzicka, S Buxbaum, J Herwig, T Pohl, A Russ, L Schaaf, A Berg, et al.
J Clin Invest. 1993 Dec; 92(6): 2922–2933. doi: 10.1172/JCI116915
PMCID:
PMC288496
SummaryPage BrowsePDF–2.5M
5.
Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.
L F Soria, E H Ludwig, H R Clarke, G L Vega, S M Grundy, B J McCarthy
Proc Natl Acad Sci U S A. 1989 Jan; 86(2): 587–591. doi: 10.1073/pnas.86.2.587
PMCID:
PMC286517
SummaryPage BrowsePDF–1.1M
6.
Familial defective apolipoprotein B-100: enhanced binding of monoclonal antibody MB47 to abnormal low density lipoproteins.
K H Weisgraber, T L Innerarity, Y M Newhouse, S G Young, K S Arnold, R M Krauss, G L Vega, S M Grundy, R W Mahley
Proc Natl Acad Sci U S A. 1988 Dec; 85(24): 9758–9762. doi: 10.1073/pnas.85.24.9758
PMCID:
PMC282860
SummaryPage BrowsePDF–1.0M
7.
An Integrated Transcriptomics and Proteomics Analysis of the Secretome of the Helminth Pathogen Fasciola hepatica: PROTEINS ASSOCIATED WITH INVASION AND INFECTION OF THE MAMMALIAN HOST
Mark W. Robinson, Ranjeeta Menon, Sheila M. Donnelly, John P. Dalton, Shoba Ranganathan
Mol Cell Proteomics. 2009 Aug; 8(8): 1891–1907. Published online 2009 May 14. doi: 10.1074/mcp.M900045-MCP200
PMCID:
PMC2722771
AbstractArticlePDF–450K
8.
Use of DNA haplotype analysis in diagnosis of familial hypercholesterolaemia in 31 German families.
H Schuster, G Rauh, C Gerl, C Keller, G Wolfram, N Zöllner
J Med Genet. 1991 Dec; 28(12): 865–870. doi: 10.1136/jmg.28.12.865
PMCID:
PMC1017165
SummaryPage BrowsePDF–811K
9.
Improved Efficiency of the Clinical Diagnostic Criteria for Familial Hypercholesterolemia in Children: A Comparison of the Japan Atherosclerosis Society Guidelines of 2017 and 2022
Hai Ying Fu, Keiji Matsunaga, Tomoko Inoue, Ryosuke Tani, Kenzo Funatsuki, Takashi Iwase, Sonoko Kondo, Katsufumi Nishioka, Shigeru Ito, Tsuyoshi Sasaki, Ichiro Yokota, Yoichi Hoshikawa, Katsunori Yokoyama, Takuji Fujisawa, Masa-aki Kawashiri, Hayato Tada, Masayuki Takamura, Takashi Kusaka, Tetsuo Minamino
J Atheroscler Thromb. 2024 Jul 1; 31(7): 1048–1057. Published online 2024 Feb 2. doi: 10.5551/jat.64513
PMCID:
PMC11224690
AbstractArticlePDF–224K
10.
Influence of Polygenic Background on the Clinical Presentation of Familial Hypercholesterolemia
Mark Trinder, Lubomira Cermakova, Isabelle Ruel, Alexis Baass, Martine Paquette, Jian Wang, Brooke A. Kennedy, Robert A. Hegele, Jacques Genest, Liam R. Brunham
Arterioscler Thromb Vasc Biol. 2024 Jul; 44(7): 1683–1693. Published online 2024 May 23. doi: 10.1161/ATVBAHA.123.320287
PMCID:
PMC11208056
AbstractArticlePDF–533K
11.
Familial hypercholesterolemia in children and the importance of early treatment
Sibbeliene E. van den Bosch, Barbara A. Hutten, Willemijn E. Corpeleijn, D. Meeike Kusters
Curr Opin Lipidol. 2024 Jun; 35(3): 126–132. Published online 2024 Feb 14. doi: 10.1097/MOL.0000000000000926
PMCID:
PMC11188623
AbstractArticlePDF–730K
12.
LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia
Jialing Deng, Ju Zhang, Shirui Meng, Nan Ding, Yu Hao, Hui Zeng, Jie Lin
Lipids Health Dis. 2024; 23: 182. Published online 2024 Jun 12. doi: 10.1186/s12944-024-02173-2
PMCID:
PMC11167941
AbstractArticlePDF–2.7M
13.
Evinacumab: Mechanism of action, clinical, and translational science
Robert Dingman, Sébastien Bihorel, Viktoria Gusarova, Jeanne Mendell, Robert Pordy
Clin Transl Sci. 2024 Jun; 17(6): e13836. Published online 2024 Jun 6. doi: 10.1111/cts.13836
PMCID:
PMC11157145
AbstractArticlePDF–4.3M
14.
Implementation of a primary-tertiary shared care model to improve the detection of familial hypercholesterolaemia (FH): a mixed methods pre-post implementation study protocol
Karen Birkenhead, David Sullivan, Claire Trumble, Catherine Spinks, Shubha Srinivasan, Andrew Partington, Luke Elias, Charlotte Mary Hespe, Gabrielle Fleming, Stephen Li, Madeline Calder, Elizabeth Robertson, Ronald Trent, Mitchell N Sarkies
BMJ Open. 2024; 14(5): e082699. Published online 2024 May 1. doi: 10.1136/bmjopen-2023-082699
PMCID:
PMC11086381
AbstractArticlePDF–2.9M
15.
Resilient Older Subjects with Heterozygous Familial Hypercholesterolemia, Baseline Differences and Associated Factors
Elisenda Climent, Antón González-Guerrero, Victoria Marco-Benedí, María-del-Mar García-Andreu, Juan Diego Mediavilla-García, Manuel Suárez-Tembra, David Benaiges, Xavier Pintó, Juan Pedro-Botet
Int J Mol Sci. 2024 May; 25(9): 4831. Published online 2024 Apr 29. doi: 10.3390/ijms25094831
PMCID:
PMC11084769
AbstractArticlePDF–251K
16.
Algorithm for detection and screening of familial hypercholesterolemia in Lithuanian population
Urte Aliosaitiene, Zaneta Petrulioniene, Egidija Rinkuniene, Antanas Mainelis, Egle Brazdziuniene, Urte Smailyte, Vaida Sileikiene, Aleksandras Laucevicius
Lipids Health Dis. 2024; 23: 136. Published online 2024 May 7. doi: 10.1186/s12944-024-02124-x
PMCID:
PMC11077833
AbstractArticlePDF–1.4M
17.
It is Time to Screen for Homozygous Familial Hypercholesterolemia in the United States
Samuel S. Gidding, Christie M. Ballantyne, Marina Cuchel, Sarah de Ferranti, Lisa Hudgins, Allison Jamison, Mary P. McGowan, Amy L. Peterson, Robert D. Steiner, Melissa K. Uveges, Yunshu Wang
Glob Heart. 2024; 19(1): 43. Published online 2024 May 3. doi: 10.5334/gh.1316
PMCID:
PMC11067975
AbstractArticlePDF–1.0M
18.
Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia
Giovanna Cardiero, Martina Ferrandino, Ilenia Lorenza Calcaterra, Gabriella Iannuzzo, Matteo Nicola Dario Di Minno, Raffaele Buganza, Ornella Guardamagna, Renata Auricchio, Maria Donata Di Taranto, Giuliana Fortunato
Genes (Basel) 2024 Apr; 15(4): 462. Published online 2024 Apr 6. doi: 10.3390/genes15040462
PMCID:
PMC11050365
AbstractArticlePDF–1.2M
19.
Evolocumab Treatment in Pediatric Patients With Homozygous Familial Hypercholesterolemia: Pooled Data From Three Open-Label Studies
Frederick J. Raal, Robert A. Hegele, Andrea Ruzza, J. Antonio G. López, Ajay K. Bhatia, Johnny Wu, Huei Wang, Daniel Gaudet, Albert Wiegman, Jian Wang, Raul D. Santos
Arterioscler Thromb Vasc Biol. 2024 May; 44(5): 1156–1164. Published online 2024 Mar 28. doi: 10.1161/ATVBAHA.123.320268
PMCID:
PMC11042515
AbstractArticlePDF–784K
20.
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States
Vivienne Souter, Emily Becraft, Samantha Brummitt, Bryan J. Gall, Brittany Prigmore, Yang Wang, Peter Benn
Circ Genom Precis Med. 2024 Apr; 17(2): e004457. Published online 2024 Mar 20. doi: 10.1161/CIRCGEN.123.004457
PMCID:
PMC11019987
AbstractArticlePDF–217K

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