Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 672 Records) |
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Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia. Circulation. Genomic and precision medicine 2023 9 e004103. Shirin Ibrahim, Jeroen van Rooij, Annemieke J M H Verkerk, Jard de Vries, Linda Zuurbier, Joep Defesche, Jorge Peter, Willemijn A M Schonck, Bahar Sedaghati-Khayat, G Kees Hovingh, André G Uitterlinden, Erik S G Stroes, Laurens F Reeska |
Impact of providing genetics-based future cardiovascular risk on LDL-C in patients with familial hypercholesterolemia. Journal of clinical lipidology 2023 9 . Akihiro Nomura, Hirofumi Okada, Atsushi Nohara, Masa-Aki Kawashiri, Masayuki Takamura, Hayato Ta |
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 |
Effects of LDLR variants rs5928, rs750518671 and rs879254797 on protein structure and functional activity in HepG2 cells transfected with CRISPR/Cas9 constructs. Gene 2023 9 147821. Augusto Akira Mori, Vanessa Barbosa Malaquias, Kennedy Bonjour, Glaucio Monteiro Ferreira, Raul Hernandes Bortolin, Jéssica Bassani Borges, Victor Fernandes de Oliveira, Rodrigo Marques Gonçalves, Andre Arpad Faludi, Gisele Monteiro Bastos, Helena Thurow, Marcelo Ferraz Sampaio, Rozana Mesquita Ciconelli, Adriano Namo Cury, Cristina Moreno Fajardo, Rosario Dominguez Crespo Hirata, Mário Hiroyuki Hira |
A Rare Case of Synchronous Fumarate Hydratase-Deficient Renal Cell Carcinoma and Clear Cell Renal Cell Carcinoma With Fumarate Hydratase and von Hippel-Lindau Gene Mutations: A Clinicopathologic and Molecular Study. International journal of surgical pathology 2023 9 10668969231195072. Hui Wen, Linmao Zheng, Mengxin Zhang, Xiuyi Pan, Duohao Wang, Jinyu Qian, Xingming Zhang, Qiao Zhou, Ni Ch |
Germline genetic variants associated with somatic TMPRSS2:ERG fusion status in prostate cancer: a genome-wide association study. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2023 8 . Chaoran Ma, Xiaoyu Wang, James Y Dai, Constance Turman, Peter Kraft, Konrad H Stopsack, Massimo Loda, Andreas Pettersson, Lorelei A Mucci, Janet L Stanford, Kathryn L Penn |
Contralateral hippocampal sclerosis following functional hemispherectomy in children: A report of three cases. Seizure 2023 8 111 147-150. Ranjith Kumar Manokaran, Ivanna Yau, Robyn Whitney, Ayako Ochi, Hiroshi Otsubo, Elysa Widjaja, George M Ibrahim, Elizabeth J Donner, Puneet Ja |
Amplified Risk of Intracranial Artery Stenosis/Occlusion Associated With RNF213 p.R4810K in Familial Hypercholesterolemia. JACC. Asia 2023 8 3 (4): 625-633. Kotaro Noda, Yorito Hattori, Mika Hori, Yuriko Nakaoku, Akito Tanaka, Takeshi Yoshimoto, Kunihiro Nishimura, Takanori Yokota, Mariko Harada-Shiba, Masafumi Iha |
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study. CMAJ open 2023 8 11 (4): E754-E764. Amanda Guerin, Iulia Iatan, Isabelle Ruel, Linda Fri Ngufor, Jacques Gene |
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 |
Cryptic splice mutation in the fumarate hydratase gene in patients with clinical manifestations of hereditary Leiomyomatosis and renal cell cancer (HLRCC). Human molecular genetics 2023 8 . Daniel R Crooks, G Mariah Cawthon, Christina M Fitzsimmons, Minervo Perez, Christopher J Ricketts, Cathy D Vocke, Ye Yang, Lindsay Middelton, Debbie Nielsen, Laura S Schmidt, Mayank Tandon, Maria J Merino, Mark W Ball, Jordan L Meier, Pedro J Batista, W Marston Lineh |
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction. Breast (Edinburgh, Scotland) 2023 12 73 103615. Anja Tüchler, Antoine De Pauw, Corinna Ernst, Amélie Anota, Inge M M Lakeman, Julia Dick, Nienke van der Stoep, Christi J van Asperen, Monika Maringa, Natalie Herold, Britta Blümcke, Robert Remy, Anke Westerhoff, Denise J Stommel-Jenner, Eléonore Frouin, Lisa Richters, Lisa Golmard, Nadine Kütting, Chrystelle Colas, Barbara Wappenschmidt, Kerstin Rhiem, Peter Devilee, Dominique Stoppa-Lyonnet, Rita K Schmutzler, Eric Hahn |
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, |
Complement alternative pathway determines disease susceptibility and severity in antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. Kidney international 2023 11 . Laura Lucientes-Continente, Gema Fernández-Juárez, Bárbara Márquez-Tirado, Laura Jiménez-Villegas, Mercedes Acevedo, Teresa Cavero, Luís Sánchez Cámara, Juliana Draibe, Paula Anton-Pampols, Fernando Caravaca-Fontán, Manuel Praga, Javier Villacorta, Elena Goicoechea de Jor |
Genetic association between vitamin D receptor gene and Saudi patients confirmed with Familial Hypercholesterolemia. Acta biochimica Polonica 2023 11 . May Salem Al-Nbahe |
Rate of Pathogenic Germline Variants in Patients With Lung Cancer. JCO precision oncology 2023 11 7 e2300190. Steven Sorscher, Jaclyn LoPiccolo, Brandie Heald, Elaine Chen, Sara L Bristow, Scott T Michalski, Sarah M Nielsen, Alix Lacoste, Emil Keyder, Hayan Lee, Robert L Nussbaum, Renato Martins, Edward D Espl |
Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction. Scientific reports 2023 10 13 (1): 16942. Wen-Jane Lee, Han-Ni Chuang, Tzu-Hung Hsiao, Wen-Lieng Lee, Jen-Pey Wu, Wayne H-H Sheu, Kae-Woei Lia |
Decreased Serum Stromal Cell-Derived Factor-1 in Patients with Familial Hypercholesterolemia and Its Strong Correlation with Lipoprotein Subfractions. International journal of molecular sciences 2023 10 24 (20): . Lilla Juhász, Hajnalka L?rincz, Anita Szentpéteri, Nóra Tóth, Éva Varga, György Paragh, Mariann Haran |
Genomic ancestry in kidney cancer: Correlations with clinical and molecular features. Cancer 2023 10 . Ritesh R Kotecha, Andrea Knezevic, Kanika Arora, Chaitanya Bandlamudi, Fengshen Kuo, Maria I Carlo, Kelly N Fitzgerald, Darren R Feldman, Neil J Shah, Ed Reznik, A Ari Hakimi, Jian Carrot-Zhang, Diana Mandelker, Michael Berger, Chung-Han Lee, Robert J Motzer, Martin H Vo |
Genetic backgrounds and diagnosis of familial hypercholesterolemia. Clinical genetics 2023 10 . Joanna Rogozik, Renata G?ówczy?ska, Marcin Grabows |
Analysis of the Correlation between FH and PCSK9 and APOB Gene Mutations in Han and Mongolian Populations of the Hulunbuir. Clinical laboratory 2024 5 70 (5): . Wanli Gao, Yu Ren, Zhifang Zheng, Hui Sun, Jing Wa |
Ocular manifestations of severe familial hypercholesterolemia. Heliyon 2024 5 10 (9): e30487. Alaa Bou Ghannam, Rachid Istambouli, Mohamed S Hamam, Jean M Chalhoub, Akl C Fahed, Rola N Ham |
Impact of changes in Achilles tendon thickening on cardiovascular events in patients with familial hypercholesterolemia. American journal of preventive cardiology 2024 4 18 100660. Hayato Tada, Nobuko Kojima, Yasuaki Takeji, Atsushi Nohara, Masa-Aki Kawashiri, Masayuki Takamu |
Impact of 12-SNP and 6-SNP Polygenic Scores on Predisposition to High LDL-Cholesterol Levels in Patients with Familial Hypercholesterolemia. Genes 2024 4 15 (4): . Giovanna Cardiero, Martina Ferrandino, Ilenia Lorenza Calcaterra, Gabriella Iannuzzo, Matteo Nicola Dario Di Minno, Raffaele Buganza, Ornella Guardamagna, Renata Auricchio, Maria Donata Di Taranto, Giuliana Fortuna |
Simplified Criteria for Identification of Familial Hypercholesterolemia in Children: Application in Real Life. Journal of cardiovascular development and disease 2024 4 11 (4): . Raffaele Buganza, Giulia Massini, Maria Donata Di Taranto, Giovanna Cardiero, Luisa de Sanctis, Ornella Guardamag |
Germline and Somatic Fumarate Hydratase Testing in Atypical Uterine Leiomyomata. Cancer prevention research (Philadelphia, Pa.) 2024 4 OF1-OF8. Lindsay M Kipnis, Katelyn M Breen, Diane R Koeller, Alison Schwartz Levine, Zelei Yang, Hyeji Jun, Nabihah Tayob, Samantha M Stokes, Connor P Hayes, Arezou A Ghazani, Sarah J Hill, Huma Q Ra |
Anti-factor B antibodies in atypical hemolytic uremic syndrome. Pediatric nephrology (Berlin, Germany) 2024 1 . Priyanka Khandelwal, Shreesha Nambiar, Rahul Saini, Savita Saini, Poonam Coshic, Aditi Sinha, Pankaj Hari, Jayanth Kumar Palanichamy, Arvind Bag |
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 |
A Case of Multiple Intracranial Major Artery Stenoses With Coexisting PCSK9 p.E32K and RNF213 p.R4810K Variants. Neurology. Genetics 2024 1 9 (5): e200099. Kotaro Noda, Yorito Hattori, Mika Hori, Mariko Harada-Shiba, Masafumi Iha |
A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas. F&S reports 2024 1 4 (4): 410-415. Yiyin Ruan, Weiwei Feng, Chenmin Ya |
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- Page last updated:May 20, 2024
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