Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 254 Records) |
| Query Trace: Hypercholesterolemia and LDLR[original query] |
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| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| [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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Cholesterol contributes to risk, severity, and machine learning-driven diagnosis of Lyme disease. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 2023 5 . Iain S Forrest, Anya J O'Neal, Joao H F Pedra, Ron |
| 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 |
| 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 |
| 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 |
| 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:May 30, 2023
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