HuGE Literature Finder
Records 1-30
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Genetic spectrum of Familial Hypercholesterolemia and correlations with clinical expression: implications for diagnosis improvement.
Clinical genetics 2021 Jul . Di Taranto Maria Donata, Giacobbe Carola, Palma Daniela, Iannuzzo Gabriella, Gentile Marco, Calcaterra Ilenia, Guardamagna Ornella, Auricchio Renata, Di Minno Matteo Nicola Dario, Fortunato Giulia |
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Genetic basis of hypercholesterolemia in adults.
NPJ genomic medicine 2021 Apr 6 (1): 28. Saadatagah Seyedmohammad, Jose Merin, Dikilitas Ozan, Alhabi Lubna, Miller Alexandra A, Fan Xiao, Olson Janet E, Kochan David C, Safarova Maya, Kullo Iftikhar |
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Screening of PCSK9 and LDLR genetic variants in Familial Hypercholesterolemia (FH) patients in India.
Journal of human genetics 2021 Apr . Reddy Lakshmi Lavanya, Shah Swarup A V, Ponde Chandrashekhar K, Dalal Jamshed J, Jatale Raj G, Dalal Reeta J, Rajani Rajesh M, Pillai Sudhir K, Vanjani Chander V, Ashavaid Tester |
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Combined hyperlipidemia is genetically similar to isolated hypertriglyceridemia.
Journal of clinical lipidology 2020 Nov . Gill Praneet K, Dron Jacqueline S, Berberich Amanda J, Wang Jian, McIntyre Adam D, Cao Henian, Hegele Robert |
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Genetics and biochemistry of familial hypercholesterolemia in Southwest of the Iberian Peninsula.
Clinica e investigacion en arteriosclerosis : publicacion oficial de la Sociedad Espanola de Arteriosclerosis 2020 Oct . Roa Garrido Jessica, Carrasco Salas Pilar, Toscano Pérez Clara, Arrobas Velilla Teresa, Vázquez Rico Ignacio, Díaz Fernández José Francis |
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Cascade Screening for Familial Hypercholesterolemia in South Africa: The Wits FIND-FH Program.
Arteriosclerosis, thrombosis, and vascular biology 2020 Sep ATVBAHA120315040. Raal Frederick J, Bahassi El Mustapha, Stevens Belinda, Turner Traci A, Stein Evan |
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Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.
Clinical genetics 2020 Aug . Rieck Lorenz, Bardey Frieda, Grenkowitz Thomas, Bertram Lars, Helmuth Johannes, Mischung Claudia, Spranger Joachim, Steinhagen-Thiessen Elisabeth, Bobbert Thomas, Kassner Ursula, Demuth Il |
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Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.
Journal of atherosclerosis and thrombosis 2020 Aug . Wang Hao, Yang Hang, Liu Zhaohui, Cui Kai, Zhang Yinhui, Zhang Yujing, Zhao Kun, Yin Kunlun, Li Wenke, Zhou Zh |
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Next-generation sequencing to confirm clinical familial hypercholesterolemia.
European journal of preventive cardiology 2020 Jul 2047487320942996. Reeskamp Laurens F, Tromp Tycho R, Defesche Joep C, Grefhorst Aldo, Stroes Erik Sg, Hovingh G Kees, Zuurbier Lin |
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The ZPR1 genotype predicts myocardial infarction in patients with familial hypercholesterolemia.
Journal of clinical lipidology 2020 Jul . Paquette Martine, Fantino Manon, Bernard Sophie, Baass Alex |
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Ascertainment Bias in the Association Between Elevated Lipoprotein(a) and Familial Hypercholesterolemia.
Journal of the American College of Cardiology 2020 Jun 75 (21): 2682-2693. Trinder Mark, DeCastro Maria L, Azizi Hawmid, Cermakova Luba, Jackson Linda M, Frohlich Jiri, Mancini G B John, Francis Gordon A, Brunham Liam |
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Higher Responsiveness to Rosuvastatin in Polygenic versus Monogenic Hypercholesterolaemia: A Propensity Score Analysis.
Life (Basel, Switzerland) 2020 May 10 (5): . Mickiewicz Agnieszka, Futema Marta, Cwiklinska Agnieszka, Kuchta Agnieszka, Jankowski Maciej, Kaszubowski Mariusz, Chmara Magdalena, Wasag Bartosz, Fijalkowski Marcin, Jaguszewski Milosz, Humphries Steve E, Gruchala Marc |
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Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.
Journal of cardiovascular development and disease 2020 May 7 (2): . Semenova Anna E, Sergienko Igor V, García-Giustiniani Diego, Monserrat Lorenzo, Popova Anna B, Nozadze Diana N, Ezhov Marat |
Polygenic Hyperlipidemias and Coronary Artery Disease Risk.
Circulation. Genomic and precision medicine 2020 Apr 13 (2): e002725. Ripatti Pietari, Rämö Joel T, Mars Nina J, Fu Yu, Lin Jake, Söderlund Sanni, Benner Christian, Surakka Ida, Kiiskinen Tuomo, Havulinna Aki S, Palta Priit, Freimer Nelson B, Widén Elisabeth, Salomaa Veikko, Tukiainen Taru, Pirinen Matti, Palotie Aarno, Taskinen Marja-Riitta, Ripatti Samuli, |
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The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia.
Lipids in health and disease 2020 Apr 19 (1): 62. Hori Mika, Takahashi Atsushi, Son Cheol, Ogura Masatsune, Harada-Shiba Mari |
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Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.
JAMA cardiology 2020 Feb . Trinder Mark, Francis Gordon A, Brunham Liam |
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ABCG5 and ABCG8 genetic variants in familial hypercholesterolemia.
Journal of clinical lipidology 2020 Jan . Reeskamp Laurens F, Volta Andrea, Zuurbier Linda, Defesche Joep C, Hovingh G Kees, Grefhorst Al |
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Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Nature communications 2020 08 11 (1): 3635. Fahed Akl C, Wang Minxian, Homburger Julian R, Patel Aniruddh P, Bick Alexander G, Neben Cynthia L, Lai Carmen, Brockman Deanna, Philippakis Anthony, Ellinor Patrick T, Cassa Christopher A, Lebo Matthew, Ng Kenney, Lander Eric S, Zhou Alicia Y, Kathiresan Sekar, Khera Amit |
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Analysis of HDL-microRNA panel in heterozygous familial hypercholesterolemia subjects with LDL receptor null or defective mutation.
Scientific reports 2019 Dec 9 (1): 20354. Scicali Roberto, Di Pino Antonino, Pavanello Chiara, Ossoli Alice, Strazzella Arianna, Alberti Antonia, Di Mauro Stefania, Scamporrino Alessandra, Urbano Francesca, Filippello Agnese, Piro Salvatore, Rabuazzo Agata Maria, Calabresi Laura, Purrello Frances |
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Cascade screening for familial hypercholesterolemia-identification of the C308Y mutation in multiple family members and relatives for the first time in mainland China.
BMC medical genetics 2019 Nov 20 (1): 173. Jin Weirong, Zhang Qiuwang, Wang Bei, Pan Lili, Qin Hongyou, Yang Daying, Zhou Xiangqun, Du Yongcai, Lin Ling, Kutryk Michael |
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Predicted pathogenic mutations in STAP1 are not associated with clinically defined familial hypercholesterolemia.
Atherosclerosis 2019 Nov 292 143-151. Lamiquiz-Moneo Itziar, Restrepo-Córdoba María Alejandra, Mateo-Gallego Rocío, Bea Ana María, Del Pino Alberiche-Ruano María, García-Pavía Pablo, Cenarro Ana, Martín Cesar, Civeira Fernando, Sánchez-Hernández Rosa Mar |
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Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Nature communications 2019 Oct 10 (1): 4897. Oetjens M T, Kelly M A, Sturm A C, Martin C L, Ledbetter D |
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Evaluation of the role of STAP1 in Familial Hypercholesterolemia.
Scientific reports 2019 Aug 9 (1): 11995. Danyel Magdalena, Ott Claus-Eric, Grenkowitz Thomas, Salewsky Bastian, Hicks Andrew A, Fuchsberger Christian, Steinhagen-Thiessen Elisabeth, Bobbert Thomas, Kassner Ursula, Demuth Il |
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Impact of LDLR and PCSK9 pathogenic variants in Japanese heterozygous familial hypercholesterolemia patients.
Atherosclerosis 2019 Aug 289 101-108. Hori Mika, Ohta Naotaka, Takahashi Atsushi, Masuda Hiroaki, Isoda Rieko, Yamamoto Suguru, Son Cheol, Ogura Masatsune, Hosoda Kiminori, Miyamoto Yoshihiro, Harada-Shiba Mari |
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In search of a genetic explanation for LDLc variability in an FH family: common SNPs and a rare mutation in MTTP explain only part of LDL variability in an FH family.
Journal of lipid research 2019 Aug . Winther Michael, Shpitzen Shoshi, Yaacov Or, Landau Jakob, Oren Limor, Foroozan-Rosenberg Linda, Lev Cohain Naama, Schurr Daniel, Meiner Vardiela, Szalat Auryan, Carmi Shai, Hayden Michael R, Leitersdorf Eran, Durst Ron |
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Statin treatment increases lipoprotein(a) levels in subjects with low molecular weight apolipoprotein(a) phenotype.
Atherosclerosis 2019 Jul . Yahya Reyhana, Berk Kirsten, Verhoeven Adrie, Bos Sven, van der Zee Leonie, Touw Jeanette, Erhart Gertraud, Kronenberg Florian, Timman Reinier, Sijbrands Eric, Roeters van Lennep Jeanine, Mulder Moniq |
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Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.
Lipids in health and disease 2019 Apr 18 (1): 95. Lee Chongyou, Cui Yuxia, Song Junxian, Li Sufang, Zhang Feng, Wu Manyan, Li Long, Hu Dan, Chen Ho |
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VEGFR2 and OPG genes modify the risk of subclinical coronary atherosclerosis in patients with familial hypercholesterolemia.
Atherosclerosis 2019 Mar 285 17-22. Miramontes-González José Pablo, Usategui-Martín Ricardo, Pérez de Isla Leopoldo, Alonso Rodrigo, Muñiz-Grijalvo Ovidio, Díaz-Díaz José Luis, Zambón Daniel, Jiménez Francisco Fuentes, Martín-Vallejo Javier, Rodríguez Gude Ana Elisa, Jiménez David León, Padro Teresa, Sarmiento Rogelio González, Mata Ped |
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SLC22A3 is associated with lipoprotein (a) concentration and cardiovascular disease in familial hypercholesterolemia.
Clinical biochemistry 2019 Feb . Paquette Martine, Bernard Sophie, Baass Alex |
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Effects of Genetic Variants Associated with Familial Hypercholesterolemia on Low-Density Lipoprotein-Cholesterol Levels and Cardiovascular Outcomes in the Million Veteran Program.
Circulation. Genomic and precision medicine 2018 Dec 11 (12): . Sun Yan V, Damrauer Scott M, Hui Qin, Assimes Themistocles L, Ho Yuk-Lam, Natarajan Pradeep, Klarin Derek, Huang Jie, Lynch Julie, DuVall Scott L, Pyarajan Saiju, Honerlaw Jacqueline P, Gaziano J Michael, Cho Kelly, Rader Daniel J, O'Donnell Christopher J, Tsao Philip S, Wilson Peter W |
- Page last reviewed:Oct 1, 2020
- Page last updated:Sep 22, 2021
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