HuGE Literature Finder
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| Association of CELSR2, APOB100, ABCG5/8, LDLR, and APOE polymorphisms and their genetic risks with lipids among the Thai subjects. Saudi journal of biological sciences 2023 1 30 (2): 103554. Nuinoon Manit, Saiphak Wutthichai, Nawaka Nantiya, Rattanawan Chutima, Pussadhamma Burabha, Jeenduang Nutjar |
| Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION. International journal of molecular sciences 2023 3 24 (5): . Nazarenko Maria S, Sleptcov Aleksei A, Zarubin Aleksei A, Salakhov Ramil R, Shevchenko Alexander I, Tmoyan Narek A, Elisaphenko Eugeny A, Zubkova Ekaterina S, Zheltysheva Nina V, Ezhov Marat V, Kukharchuk Valery V, Parfyonova Yelena V, Zakian Suren M, Zakharova Irina |
| 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 |
| 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 |
| 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 |
| Gene Sequencing Identifies Perturbation in Nitric Oxide Signaling as a Nonlipid Molecular Subtype of Coronary Artery Disease. Circulation. Genomic and precision medicine 2022 Oct 101161CIRCGEN121003598. Khera Amit V, Wang Minxian, Chaffin Mark, Emdin Connor A, Samani Nilesh J, Schunkert Heribert, Watkins Hugh, McPherson Ruth, Erdmann Jeanette, Elosua Roberto, Boerwinkle Eric, Ardissino Diego, Butterworth Adam S, Di Angelantonio Emanuele, Naheed Aliya, Danesh John, Chowdhury Rajiv, Krumholz Harlan M, Sheu Wayne H-H, Rich Stephen S, Rotter Jerome I, Chen Yii-der Ida, Gabriel Stacey, Lander Eric S, Saleheen Danish, Kathiresan Sek |
| 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 |
| Impact of variants of uncertain significance of LDL receptor on phenotypes of familial hypercholesterolemia. Journal of clinical lipidology 2022 Sep . Tada Hayato, Kojima Nobuko, Yamagami Kan, Nomura Akihiro, Nohara Atsushi, Usui Soichiro, Sakata Kenji, Hayashi Kenshi, Fujino Noboru, Takamura Masayuki, Kawashiri Masa-A |
| 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 |
| Psychiatric manifestations of rare variation in medically actionable genes: a PheWAS approach. BMC genomics 2022 May 23 (1): 385. Feng Yen-Chen A, Stanaway Ian B, Connolly John J, Denny Joshua C, Luo Yuan, Weng Chunhua, Wei Wei-Qi, Weiss Scott T, Karlson Elizabeth W, Smoller Jordan |
| 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 |
| [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 |
| 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 |
| 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 |
| An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential of early cardiovascular disease intervention. HGG advances 2022 10 3 (4): 100118. Jørsboe Emil, Andersen Mette K, Skotte Line, Stæger Frederik F, Færgeman Nils J, Hanghøj Kristian, Santander Cindy G, Senftleber Ninna K, Diaz Lars J, Overvad Maria, Waples Ryan K, Geller Frank, Bjerregaard Peter, Melbye Mads, Larsen Christina V L, Feenstra Bjarke, Anders Koch , Jørgensen Marit E, Grarup Niels, Moltke Ida, Albrechtsen Anders, Hansen Torb |
| Analysis of Clinical and Biochemical Characteristics of Patients With Genetically Confirmed Familial Hypercholesterolemia in Russian North Western District Residents. Kardiologiia 2022 12 62 (11): 33-39. Korneva V A, Zacharova F M, Mandelstam M Yu, Bogoslovskaya T Yu, Orlov A V, Vasilyev V B, Kuznetsova T |
| 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 |
| Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients. Atherosclerosis 2022 3 347 63-67. Noto Davide, Spina Rossella, Giammanco Antonina, Barbagallo Carlo M, Ganci Antonina, Scrimali Chiara, Brucato Federica, Misiano Gabriella, Ciaccio Marcello, Caldarella Rosalia, Cefalù Angelo B, Averna Mauriz |
| Differential distribution of gene polymorphisms associated with hypercholesterolemia, hypertriglyceridemia, and hypoalphalipoproteinemia among Native American and Mestizo Mexicans. World journal of hepatology 2022 9 14 (7): 1408-1420. Torres-Valadez Rafael, Roman Sonia, Ojeda-Granados Claudia, Gonzalez-Aldaco Karina, Panduro Artu |
| 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 |
| 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 |
| 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 |
| LDLR missense variants disturb structural conformation and LDLR activity in T-lymphocytes of Familial hypercholesterolemia patients. Gene 2022 12 853 147084. Barbosa Thais Kristini Almendros, Hirata Rosario Dominguez Crespo, Ferreira Glaucio Monteiro, Borges Jéssica Bassani, Oliveira Victor Fernandes de, Gorjão Renata, Marçal Elisangela Rodrigues da Silva, Gonçalves Rodrigo Marques, Faludi André Arpad, Freitas Renata Caroline Costa de, Dagli-Hernandez Carolina, Bortolin Raul Hernandes, Bastos Gisele Medeiros, Pithon-Curi Tania Cristina, Nader Helena Bonciani, Hirata Mario Hiroyu |
| Long-term cancer risk in heterozygous familial hypercholesterolemia relatives: a 25-year cohort study. Lipids in health and disease 2022 7 21 (1): 56. Kjærgaard Kasper Aalbæk, Harborg Sixten, Jensen Henrik Kjærulf, Borgquist Sig |
| 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 |
| Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia. iScience 2022 11 25 (11): 105334. Du Zhiyong, Li Fan, Li Linyi, Wang Yu, Li Jianping, Yang Ya, Jiang Long, Wang Luya, Qin Yanw |
| Prevalence of genetically defined familial hypercholesterolemia and the impact on acute myocardial infarction in Taiwanese population: A hospital-based study. Frontiers in cardiovascular medicine 2022 9 9 994662. Chen Yen-Ju, Chen I-Chieh, Chen Yi-Ming, Hsiao Tzu-Hung, Wei Chia-Yi, Chuang Han-Ni, Lin Wei-Wen, Lin Ching-He |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2023
- Page last updated:Mar 30, 2023
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