Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 164 Records) |
| Query Trace: Hypercholesterolemia and PCSK9[original query] |
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| Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J. Journal of atherosclerosis and thrombosis 2021 9 29 (8): 1201-1212. Harada-Shiba Mariko, Ako Junya, Hirayama Atsushi, Nakamura Masato, Nohara Atsushi, Sato Kayoko, Murakami Yoshitaka, Koshida Ryusuke, Ozaki Asuka, Arai Hideno |
| Relations of physical signs to genotype, lipid and inflammatory markers, coronary stenosis or calcification, and outcomes in patients with heterozygous familial hypercholesterolemia. Journal of translational medicine 2021 12 19 (1): 498. Liu Ming-Ming, Peng Jia, Guo Yuan-Lin, Zhu Cheng-Gang, Wu Na-Qiong, Xu Rui-Xia, Dong Qian, Li Jian-J |
| Atorvastatin-associated rhabdomyolysis in a patient with a novel variant of the SLCO1B1 gene: A case report. Journal of clinical lipidology 2021 12 16 (1): 23-27. Kiage James, Venkatanarayan Ajay, Roth Mendel, Elam Marsha |
| Polygenic contribution for familial hypercholesterolemia (FH). Current opinion in lipidology 2021 11 32 (6): 392-395. Medeiros Ana Margarida, Bourbon Mafal |
| Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis. Journal of clinical lipidology 2021 11 15 (6): 822-831. Di Costanzo Alessia, Minicocci Ilenia, D'Erasmo Laura, Commodari Daniela, Covino Stella, Bini Simone, Ghadiri Ameneh, Ceci Fabrizio, Maranghi Marianna, Catapano Alberico L, Gazzotti Marta, Casula Manuela, Montali Anna, Arca Marcel |
| Multiplex Protein Biomarker Profiling in Patients with Familial Hypercholesterolemia. Genes 2021 10 12 (10): . Dlouha Dana, Blaha Milan, Rohlova Eva, Hubacek Jaroslav A, Lanska Vera, Visek Jakub, Blaha Vladim |
Genome-Wide Association of Proprotein Convertase Subtilisin/Kexin Type 9 Plasma Levels in the ELSA-Brasil Study.
Frontiers in genetics 2021 10 12 728526. Bensenor Isabela, Padilha Kallyandra, Lima Isabella Ramos, Santos Raul Dias, Lambert Gilles, Ramin-Mangata Stéphane, Bittencourt Marcio S, Goulart Alessandra C, Santos Itamar S, Mill Jose G, Krieger Jose E, Lotufo Paulo A, Pereira Alexandre |
| Implementation of a biochemical, clinical, and genetic screening programme for familial hypercholesterolemia in 26 centres in Spain: The ARIAN study. Frontiers in genetics 2022 9 13 971651. Arrobas Velilla Teresa, Brea Ángel, Valdivielso Ped |
| The impact of gene variants on the thickness and softness of the Achilles tendon in familial hypercholesterolemia. Atherosclerosis 2022 Oct 358 41-46. Michikura Masahito, Hori Mika, Ogura Masatsune, Hosoda Kiminori, Harada-Shiba Mari |
| The Prevalence and Genetic Spectrum of Familial Hypercholesterolemia in Qatar Based on Whole Genome Sequencing of 14,000 Subjects. Frontiers in genetics 2022 8 13 927504. Diboun Ilhame, Al-Sarraj Yasser, Toor Salman M, Mohammed Shaban, Qureshi Nadeem, Al Hail Moza S H, Jayyousi Amin, Al Suwaidi Jassim, Albagha Omar M |
| APOE Molecular Spectrum in a French Cohort with Primary Dyslipidemia. International journal of molecular sciences 2022 5 23 (10): . Abou Khalil Yara, Marmontel Oriane, Ferrières Jean, Paillard François, Yelnik Cécile, Carreau Valérie, Charrière Sybil, Bruckert Eric, Gallo Antonio, Giral Philippe, Philippi Anne, Bluteau Olivier, Boileau Catherine, Abifadel Marianne, Di-Filippo Mathilde, Carrié Alain, Rabès Jean-Pierre, Varret Mathil |
| A Very Rare Variant in SREBF2, a Possible Cause of Hypercholesterolemia and Increased Glycemic Levels. Biomedicines 2022 5 10 (5): . García-García Ana-Bárbara, Martínez-Hervás Sergio, Vernia Santiago, Ivorra Carmen, Pulido Inés, Martín-Escudero Juan-Carlos, Casado Marta, Carretero Julián, Real José T, Chaves Felipe Javi |
| Lipid Metabolic Genes and Maternal Supraphysiological Hypercholesterolemia: An Analysis of Maternal-fetal Interaction. The Journal of clinical endocrinology and metabolism 2022 May . Cai Xiaxia, Liang Ning, Cai Xueping, Zhou Qi, Dang Qinyu, Hu Zhuo, Yu Huanli |
| Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia. Metabolites 2022 3 12 (3): . Ghaleb Youmna, Elbitar Sandy, Philippi Anne, El Khoury Petra, Azar Yara, Andrianirina Miangaly, Loste Alexia, Abou-Khalil Yara, Nicolas Gaël, Le Borgne Marie, Moulin Philippe, Di-Filippo Mathilde, Charrière Sybil, Farnier Michel, Yelnick Cécile, Carreau Valérie, Ferrières Jean, Lecerf Jean-Michel, Derksen Alexa, Bernard Geneviève, Gauthier Marie-Soleil, Coulombe Benoit, Lütjohann Dieter, Fin Bertrand, Boland Anne, Olaso Robert, Deleuze Jean-François, Rabès Jean-Pierre, Boileau Catherine, Abifadel Marianne, Varret Mathil |
| [Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents]. Revista medica de Chile 2022 3 149 (9): 1267-1274. Sánchez Andrea, Bustos Paulina, Honorato Paula, Sáez Katia, Elim-Jannes Cinthia, Barriga Natalia, Ibieta Guillermo, Pérez Luis, Alonso Rodrigo, Radojkovic Claudia, Asenjo Sylv |
| Coronary Artery Disease Risk of Familial Hypercholesterolemia Genetic Variants Independent of Clinically Observed Longitudinal Cholesterol Exposure. Circulation. Genomic and precision medicine 2022 Feb CIRCGEN121003501. Clarke Shoa L, Tcheandjieu Catherine, Hilliard Austin T, Lee Kyung Min, Lynch Julie, Chang Kyong-Mi, Miller Donald, Knowles Joshua W, O'Donnell Christopher, Tsao Philip S, Rader Daniel J, Wilson Peter W, Sun Yan V, Gaziano J Michael, Assimes Themistocles L, |
| [Analysis of clinical phenotypes and variants of LDLR gene in two Chinese patients with familial hypercholesterolemia]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 39 (12): 1344-1348. Wang Kexin, Sun Tao, Zhang Xiaoping, Zhang Yahui, Gao Hai, Ren Yanlong, Li Xiaoy |
| Improvement of Definite Diagnosis of Familial Hypercholesterolemia Using an Expanding Genetic Analysis. JACC. Asia 2022 11 1 (1): 82-89. Cao Ye-Xuan, Sun Di, Liu Hui-Hui, Jin Jing-Lu, Li Sha, Guo Yuan-Lin, Wu Na-Qiong, Zhu Cheng-Gang, Liu Geng, Dong Qian, Sun Jing, Chen Xie-Hui, Li Jian-J |
| Whole-exome sequencing identifies novel protein-altering variants associated with serum apolipoprotein and lipid concentrations. Genome medicine 2022 11 14 (1): 132. Sandholm Niina, Hotakainen Ronja, Haukka Jani K, Jansson Sigfrids Fanny, Dahlström Emma H, Antikainen Anni A, Valo Erkka, Syreeni Anna, Kilpeläinen Elina, Kytölä Anastasia, Palotie Aarno, Harjutsalo Valma, Forsblom Carol, Groop Per-Henrik, |
| A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia. The Journal of clinical endocrinology and metabolism 2022 10 108 (2): 422-432. Hori Mika, Takahashi Atsushi, Hosoda Kiminori, Ogura Masatsune, Harada-Shiba Mari |
| Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with familial hypercholesterolemia: A single center real-world study. Nutrition, metabolism, and cardiovascular diseases : NMCD 2022 1 32 (3): 684-691. Iannuzzo Gabriella, Buonaiuto Alessio, Calcaterra Ilenia, Gentile Marco, Forte Francesco, Tripaldella Maria, Di Taranto Maria D, Giacobbe Carola, Fortunato Giuliana, Rubba Paolo O, Di Minno Matteo N Dar |
| Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia. Genes 2022 1 13 (1): . Madar László, Juhász Lilla, Sz?cs Zsuzsanna, Kerkovits Lóránt, Harangi Mariann, Balogh Istv |
| Low Detection Rates of Genetic FH in Cohort of Patients With Severe Hypercholesterolemia in the United Arabic Emirates. Frontiers in genetics 2022 1 12 809256. Rimbert Antoine, Daggag Hinda, Lansberg Peter, Buckley Adam, Viel Martijn, Kanninga Roan, Johansson Lennart, Dullaart Robin P F, Sinke Richard, Al Tikriti Alia, Kuivenhoven Jan Albert, Barakat Maha Tays |
| Genetic Testing Enables the Diagnosis of Familial Hypercholesterolemia Underdiagnosed by Clinical Criteria: Analysis of Japanese Early-Onset Coronary Artery Disease Patients. Cardiology research and practice 2023 5 2023 2236422. Hiroshi Miyama, Yoshinori Katsumata, Mizuki Momoi, Genki Ichihara, Taishi Fujisawa, Jin Endo, Takashi Kawakami, Masaharu Kataoka, Shinsuke Yuasa, Motoaki Sano, Kazuki Sato, Keiichi Fuku |
| Identification of pathogenic variants in the Brazilian cohort with Familial hypercholesterolemia using exon-targeted gene sequencing. Gene 2023 5 875 147501. Jéssica Bassani Borges, Victor Fernandes Oliveira, Carolina Dagli-Hernandez, Glaucio Monteiro Ferreira, Thais Kristini Almendros Afonso Barbosa, Elisangela da Silva Rodrigues Marçal, Bruna Los, Vanessa Barbosa Malaquias, Raul Hernandes Bortolin, Renata Caroline Costa Freitas, Augusto Akira Mori, Gisele Medeiros Bastos, Rodrigo Marques Gonçalves, Daniel Branco Araújo, Henry Zatz, Adriana Bertolami, André Arpad Faludi, Marcelo Chiara Bertolami, Amanda Guerra de Moraes Rego Souza, João Ítalo Dias França, Helena Strelow Thurow, Thiago Dominguez Crespo Hirata, Helder Takashi Imoto Nakaya, Cinthia Elim Jannes, Alexandre da Costa Pereira, Vivian Nogueira Silbiger, André Ducati Luchessi, Jéssica Nayara Góes Araújo, Marcelo Arruda Nakazone, Tayanne Silva Carmo, Dorotéia Rossi Silva Souza, Patricia Moriel, Jaqueline Yu Ting Wang, Michel Satya Naslavsky, Renata Gorjão, Tania Cristina Pithon-Curi, Rui Curi, Cristina Moreno Fajardo, Hui-Tzu Lin Wang, Adriana Regina Garófalo, Alvaro Cerda, Marcelo Ferraz Sampaio, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hira |
| Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients. International journal of molecular sciences 2023 4 24 (8): . Carmen Rodríguez-Jiménez, Gema de la Peña, Javier Sanguino, Sara Poyatos-Peláez, Ana Carazo, Pedro L Martínez-Hernández, Francisco Arrieta, José M Mostaza, Diego Gómez-Coronado, Sonia Rodríguez-Nóv |
| Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia. Circulation. Genomic and precision medicine 2023 3 e003887. Chaudhry Ahsen, Trinder Mark, Vesely Kristin, Cermakova Lubomira, Jackson Linda, Wang Jian, Hegele Robert A, Brunham Liam |
| Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia. Journal of clinical medicine 2023 2 12 (3): . Aparicio Andrea, Villazón Francisco, Suárez-Gutiérrez Lorena, Gómez Juan, Martínez-Faedo Ceferino, Méndez-Torre Edelmiro, Avanzas Pablo, Álvarez-Velasco Rut, Cuesta-Llavona Elías, García-Lago Claudia, Neuhalfen David, Coto Eliecer, Lorca Rebe |
| Targeted sequencing of a gene panel in patients with Familial Hypercholesterolemia from Southern Poland. Polish archives of internal medicine 2023 1 . Toto?-?ura?ska Justyna, Wo?kow Pawe?, Kapusta Maria, Wójcik Ma?gorzata, Starzyk Jerzy, Kawalec Ewa, Idzior-Walu? Barbara, Walu?-Miarka Ma?gorza |
| Novel protein-truncating variant in the APOB gene may protect from coronary artery disease and adverse cardiovascular events. Atherosclerosis plus 2023 1 49 42-46. Mango Gabriele, Osti Nicola, Udali Silvia, Vareschi Anna, Malerba Giovanni, Giorgetti Alejandro, Pizzolo Francesca, Friso Simonetta, Girelli Domenico, Olivieri Oliviero, Castagna Annalisa, Martinelli Nico |
- Page last reviewed:Feb 1, 2023
- Page last updated:Jun 02, 2023
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