Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 42 Records) |
| Query Trace: Hypercholesterolemia and LDLRAP1[original query] |
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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 |
| 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 |
| Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features. Atherosclerosis 2020 9 312 72-78. Bertolini Stefano, Calandra Sebastiano, Arca Marcello, Averna Maurizio, Catapano Alberico L, Tarugi Patrizia, |
| 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 |
| Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil. Molecular biology reports 2020 11 47 (12): 9279-9288. de Paiva Silvino Júnea Paolucci, Jannes Cinthia Elim, Tada Mauricio Teruo, Lima Isabella Ramos, Silva Iêda de Fátima Oliveira, Pereira Alexandre Costa, Gomes Karina Bra |
| Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort. Journal of the Endocrine Society 2020 1 4 (1): bvz015. Garg Abhimanyu, Fazio Sergio, Duell P Barton, Baass Alexis, Udata Chandrasekhar, Joh Tenshang, Riel Tom, Sirota Marina, Dettling Danielle, Liang Hong, Garzone Pamela D, Gumbiner Barry, Wan Ho |
| 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 |
| Next-generation sequencing to confirm clinical familial hypercholesterolemia. European journal of preventive cardiology 2021 7 28 (8): 875-883. Reeskamp Laurens F, Tromp Tycho R, Defesche Joep C, Grefhorst Aldo, Stroes Erik S G, Hovingh G Kees, Zuurbier Lin |
| Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia. Journal of atherosclerosis and thrombosis 2021 5 29 (5): 667-677. Nagahara Keiko, Nishibukuro Tsuyoshi, Ogiwara Yasuko, Ikegawa Kento, Tada Hayato, Yamagishi Masakazu, Kawashiri Masa-Aki, Ochi Ayako, Toyoda Junya, Nakano Yuya, Adachi Masanori, Mizuno Katsumi, Hasegawa Yukihiro, Dobashi Kazushi |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| LDLR and PCSK9 3´UTR variants and their putative effects on microRNA molecular interactions in familial hypercholesterolemia: a computational approach. Molecular biology reports 2023 9 . Renata Caroline Costa de Freitas, Raul Hernandes Bortolin, Jessica Bassani Borges, Victor Fernandes de Oliveira, Carolina Dagli-Hernandez, Elisangela da Silva Rodrigues Marçal, Gisele Medeiros Bastos, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Vivian Nogueira Silbiger, André Ducati Luchessi, Rosario Dominguez Crespo Hirata, Mario Hiroyuki Hira |
| Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing. Journal of clinical medicine 2023 8 12 (15): . Gustavs Latkovskis, Raimonds Rescenko-Krums, Georgijs Nesterovics, Monta Briviba, Vita Saripo, Dainus Gilis, Elizabete Terauda, Ruta Meiere, Gunda Skudrina, Andrejs Erglis, Joana Rita Chora, Mafalda Bourbon, Janis Klovi |
| 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 |
| Unravelling the genetic background of individuals with a clinical Familial Hypercholesterolemia phenotype. Journal of lipid research 2023 12 100490. Ana Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, Joana Rita Chora, Mafalda Bourbon, |
| Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning. Vavilovskii zhurnal genetiki i selektsii 2023 10 27 (5): 522-529. D E Ivanoshchuk, A B Kolker, O V Timoshchenko, S E Semaev, E V Shakhtshneid |
| Novel Finnish-enriched variants causing severe hypercholesterolemia and their clinical impact on coronary artery disease. Atherosclerosis 2023 10 117327. Nella Junna, Sanni Ruotsalainen, Pietari Ripatti, FinnGen, Samuli Ripatti, Elisabeth Wid |
| 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 |
| Mayo Clinic Tapestry Study: A Large-Scale Decentralized Whole Exome Sequencing Study for Clinical Practice, Research Discovery, and Genomic Education. Mayo Clinic proceedings 2024 12 . Lorelei A Bandel, Robert A Vierkant, Teresa M Kruisselbrink, Michelle L Bublitz, Tammy A Wilson, Sebastian M Armasu, Jan B Egan, Richard J Presutti, Niloy Jewel J Samadder, Aleksandar Sekulic, Rory J Olson, Jennifer Tan-Arroyo, Joel A Morales-Rosado, Eric W Klee, Matthew J Ferber, Jennifer L Kemppainen, Jennifer L Anderson, Jessa S Bidwell, Joseph J Wick, Victor E Ortega, William V Bobo, Pavel N Pichurin, Jessica M Mcmillan, DeAnna M Weaver, Douglas L Riegert-Johnson, Alanna M Cera, Lauren M Boucher, Iftikhar J Kullo, Sarah K Mantia, Matthew T Jones, Nicholas B Larson, Tony C Luehrs, Jon W Leitzke, Hugues Sicotte, Shulan Tian, Jennifer R Stavlund, Joel E Pacyna, Richard R Sharp, Akwasi A Asabere, James Lu, Tammy M McAllister, T'Nita S Walker, A Keith Stewart, Gianrico Farrugia, Konstantinos N Lazarid |
| Genetic heterogeneity of familial hypercholesterolaemia in two populations from two different countries. European journal of internal medicine 2024 1 . Asiiat Alieva, Alessia Di Costanzo, Marta Gazzotti, Olga Reutova, Elena Usova, Viktoria Bakaleiko, Marcello Arca, Laura D'Erasmo, Fabio Pellegatta, Federica Galimberti, Elena Olmastroni, Alberico L Catapano, Manuela Casu |
| Familial hypercholesterolemia - Targeted whole gene sequencing as a diagnostic approach. Atherosclerosis plus 2025 1 59 1-9. Emma Adolfsson, Nils Johan Fredriksson, Jon Jonasson, Anna Nordenskjöld, Anna Gre |
- Page last reviewed:Feb 1, 2024
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