Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 295 Records) |
| Query Trace: Disease and REST[original query] |
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| Osteoarthritis and cardiovascular disease: A Mendelian randomization study. Frontiers in cardiovascular medicine 2022 12 9 1025063. Wang Zhao, Kang Chan, Xu Pai, Zhang Shuyi, Song Jae Hwang, Wang Dongyang, Yuan Shuai, Lee Hyun Jong, Zhang Meng, Wang Zhihui, Sun Hao, Fan Ruobi |
| Testicular Adrenal Rest Tumors in Congenital Adrenal Hyperplasia: Study of a Cohort of Patients from a Single Italian Center. Children (Basel, Switzerland) 2023 9 10 (9): . Rita Ortolano, Alessandra Cassio, Randa S Alqaisi, Egidio Candela, Valeria Di Natale, Valentina Assirelli, Luca Bernardini, Elisa Bortolamedi, Erika Cantarelli, Beniamino Corcioni, Matteo Renzulli, Antonio Balsamo, Federico Baron |
| Double heterozygous pathogenic mutations in KIF3C and ZNF513 cause hereditary gingival fibromatosis. International journal of oral science 2023 9 15 (1): 46. Jianfan Chen, Xueqing Xu, Song Chen, Ting Lu, Yingchun Zheng, Zhongzhi Gan, Zongrui Shen, Shunfei Ma, Duocai Wang, Leyi Su, Fei He, Xuan Shang, Huiyong Xu, Dong Chen, Leitao Zhang, Fu Xio |
| Clinical and genetic characterization of RDH12-retinal dystrophy in a South American cohort. Ophthalmology. Retina 2023 9 . Malena Daich Varela, Rene Moya, Rebeca Azevedo Souza Amaral, Patricio G Schlottmann, Alejandro Álvarez Mendiara, Aníbal Francone, Rosane Guazi Resende, Luciana Capalbo, Nancy Gelvez, Greizy López, Ana M Morales-Acevedo, Rafael H Ossa, Gavin Arno, Michel Michaelides, Martha L Tamayo, Juliana Maria Ferraz Sall |
| Acute Exercise Effect on Neurocognitive Function among Cognitively Normal Late-Middle-Aged Adults with/without Genetic Risk of AD: The Moderating Role of Exercise Volume and APOE Genotype. The journals of gerontology. Series A, Biological sciences and medical sciences 2023 8 . Yu-Kai Chang, Jennifer L Etnier, Ruei-Hong Li, Fei-Fei Ren, Jing-Yi Ai, Chien-Heng C |
| Awareness of celiac disease among the public in Kuwait: a cross-sectional survey. BMC research notes 2023 7 16 (1): 133. Wafaa A Qasem, Ali Al Roumi, Khaled Al Mojil, Hind Sakijha, Nouf AlMugham |
| Clinical Exome Gene Panel Analysis of a Cohort of Urothelial Bladder Cancer Patients from Sri Lanka. Asian Pacific journal of cancer prevention : APJCP 2023 5 24 (5): 1533-1542. Ajith Malalasekera, Nilaksha Neththikumara, Praveenan Somasundaram, Sajeewani Pathirana, Chathumadavi Ediriweera, Dileepa Ediriweera, Serozsha As Goonewardena, Neville D Perera, Anuruddha Abeygunasekara, Rohan W Jayasekara, Kalum Wettasinghe, M Dilani S Lokuhetty, Vajira H W Dissanaye |
| A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India. BMC ophthalmology 2023 5 23 (1): 210. Shiwali Goyal, Kabir Singh, Aashna Uppal, Vanita Vani |
| Novel Variants in MPV17, PRX, GJB1, and SACS Cause Charcot-Marie-Tooth and Spastic Ataxia of Charlevoix-Saguenay Type Diseases. Genes 2023 2 14 (2): . Zaman Qaiser, Khan Muhammad Abbas, Sahar Kalsoom, Rehman Gauhar, Khan Hamza, Rehman Mehwish, Najumuddin , Ahmad Ilyas, Tariq Muhmmad, Muthaffar Osama Yousef, Abdulkareem Angham Abdulrhman, Bibi Fehmida, Naseer Muhammad Imran, Faisal Muhammad Shah, Wasif Naveed, Jelani Musharr |
| Intronic Variants of the Angiotensin-Converting Enzyme 2 Gene Modulate Plasma ACE2 Levels and Possibly Confer Protection against Severe COVID-19. BioMed research international 2023 11 2023 5705076. Rubaiat Ahmed, Abdullah Al Saba, Anik Paul, Jasmin Nur, Md Sohrab Alam, Sajib Chakraborty, Md Zakir Hossain Howlader, Laila N Islam, A H M Nurun Na |
| Potential Modifying Effect of the APOE?4 Allele on Age of Onset and Clinical Manifestations in Patients with Early-Onset Alzheimer's Disease with and without a Pathogenic Variant in PSEN1 in a Sample of the Mexican Population. International journal of molecular sciences 2023 11 24 (21): . César A Valdez-Gaxiola, Eric Jonathan Maciel-Cruz, Rubiceli Hernández-Peña, Sofía Dumois-Petersen, Frida Rosales-Leycegui, Martha Patricia Gallegos-Arreola, José Miguel Moreno-Ortiz, Luis E Figue |
| Genetic Analysis of Alpha-Thalassemia Mutations in Thi-Gar Province, Iraq. Archives of Razi Institute 2023 1 77 (3): 976-980. Odah Al-Musawi A H, Jumaah Alhussna A, Hussein Jalood |
| Parkinson's disease-associated 18 bp promoter variant of DJ-1 alters REST binding and regulates its expression. Neuroscience letters 2023 1 795 137051. Pal Prosenjit, Roy Shubhrajit, Chowdhury Abhishek, Chatterjee Raghunath, Ray Kunal, Ray Jhar |
| Relationship between Arachidonate 5-Lipoxygenase-Activating Protein Gene and Peripheral Arterial Disease in Elderly Patients Undergoing General Surgery: A Retrospective Observational Study. International journal of environmental research and public health 2023 1 20 (2): . Jin Sejong, Choi Eun-Ji, Choi Yoon Ji, Min Won Kee, Park Ju Yeon, Yoon Seung Zh |
| Severe COVID-19 May Impact Hepatic Fibrosis /Hepatic Stellate Cells Activation as Indicated by a Pathway and Population Genetic Study. Genes 2023 1 14 (1): . Moya Leire, Farashi Samaneh, Suravajhala Prashanth, Janaththani Panchadsaram, Batra Jyots |
| The impact of genotype on age at loss of ambulation in individuals with Duchenne muscular dystrophy treated with corticosteroids: A single-center study of 555 patients. Muscle & nerve 2024 9 . Alexander Zygmunt, Brenda Wong, David Moon, Paul Horn, Richard Rathbun, Joshua Lambert, Jean Bange, Irina Rybalsky, Lisa Reebals, Cuixia Ti |
| Germline RTEL1 Variants in Telomere Biology Disorders. American journal of medical genetics. Part A 2024 9 e63882. Ashley S Thompson, Marena R Niewisch, Neelam Giri, Lisa J McReynolds, Sharon A Sava |
| The association between rs6859 in NECTIN2 gene and Alzheimer's disease is partly mediated by pTau. Frontiers in aging neuroscience 2024 8 16 1388363. Aravind Lathika Rajendrakumar, Konstantin G Arbeev, Olivia Bagley, Anatoliy I Yashin, Svetlana Ukraintse |
| The association between rs6859 in NECTIN2 gene and Alzheimer's disease is partly mediated by pTau. medRxiv : the preprint server for health sciences 2024 7 . Aravind Lathika Rajendrakumar, Konstantin G Arbeev, Olivia Bagley, Anatoliy I Yashin, Svetlana Ukraintse |
| Sleep, 24-Hour Activity Rhythms, and Subsequent Amyloid-? Pathology. JAMA neurology 2024 6 . Phuong Thuy Nguyen Ho, Sanne J W Hoepel, Maria Rodriguez-Ayllon, Annemarie I Luik, Meike W Vernooij, Julia Neitz |
| Prevalence and effect of PIK3CA H1047R somatic mutation among Indian head and neck cancer patients. Saudi journal of biological sciences 2024 6 31 (8): 104029. Arjita Ghosh, Anbalagan Moort |
| The long and winding road to biomarkers for immunotherapy: a retrospective analysis of samples from patients with triple-negative breast cancer treated with pembrolizumab. ESMO open 2024 5 9 (5): 102964. L Buisseret, Y Bareche, D Venet, E Girard, A Gombos, P Emonts, S Majjaj, G Rouas, M Serra, V Debien, E Agostinetto, S Garaud, K Willard-Gallo, D Larsimont, J Stagg, F Rothé, C Sotiri |
| Interactions between physical exercise, associative memory, and genetic risk for Alzheimer's disease. Cerebral cortex (New York, N.Y. : 1991) 2024 5 34 (5): . Kinga Igloi, Blanca Marin Bosch, Noémie Kuenzi, Aurélien Thomas, Estelle Lauer, Aurélien Bringard, Sophie Schwar |
| HLA variations in patients with diffuse large B-cell lymphoma and association with disease risk and prognosis: a case-control study. Frontiers in genetics 2024 4 15 1341822. Ioanna Diamanti, Asimina Fylaktou, Evgenia Verrou, Efthimia Vlachaki, Manolis Sinakos, Eirini Katodritou, Konstantinos Ouranos, Fani Minti, Georgia Giou |
| Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma-affected patients: a pilot study. Frontiers in oncology 2024 11 14 1480302. Chiara Dal Secco, Alessandro Tel, Lorenzo Allegri, Federica Baldan, Francesco Curcio, Salvatore Sembronio, Flavio Faletra, Massimo Robiony, Giuseppe Damante, Catia M |
| Long-Term Air Pollution Exposure and Severity of Idiopathic Pulmonary Fibrosis: Data from the IPF-PRO Registry. Annals of the American Thoracic Society 2024 11 . Coralynn Sack, Daniel M Wojdyla, Maeve G MacMurdo, Amanda Gassett, Joel D Kaufman, Ganesh Raghu, Carrie A Redlich, Peide Li, Amy L Olson, Thomas B Leonard, Jamie L Todd, Megan L Neely, Laurie D Snyder, Mridu Gula |
| Elexacaftor/tezacaftor/ivacaftor efficacy in intestinal organoids with rare CFTR variants in comparison to CFTR-F508del and CFTR-wild type controls. Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society 2024 11 . Suzanne Kroes, Marlou C Bierlaagh, Juliet W Lefferts, Alessandra Boni, Danya Muilwijk, Carla Viscomi, Natascha D A Keijzer-Nieuwenhuijze, Luca Cristiani, Paul J Niemöller, Tibo F Verburg, Renato Cutrera, Alessandro G Fiocchi, Vincenzina Lucidi, Cornelis K van der Ent, Jeffrey M Beekman, Federico Alghisi, Fabiana Ciciriel |
| A novel GWAS locus influences microvascular response to mental stress and predicts adverse cardiovascular events. Scientific reports 2024 10 14 (1): 23479. Zakaria Almuwaqqat, Chang Liu, Jeong Hwan Kim, Muhammad Hammadah, Ayman Alkhoder, Paolo Raggi, Amit J Shah, J Douglas Bremner, Viola Vaccarino, Yan V Sun, Arshed A Quyyu |
| Matrix Gla protein polymorphism rs1800802 is associated with atheroma plaque progression and with cardiovascular events in a chronic kidney disease cohort. Clinical kidney journal 2024 1 17 (1): sfad257. Serafí Cambray, Marcelino Bermúdez-López, Alicia Garcia-Carrasco, Jose M Valdivielso, |
| Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China. Annals of medicine 2025 1 57 (1): 2447421. Chuan Huang, Li-Ming Chu, Bo Liang, Hui-Lan Wu, Bai-Shun Li, Shuai Ren, Mei-Ling Hou, Hong-Chuan Nie, Ling-Yin Kong, Li-Qing Fan, Juan Du, Wen-Bing Z |
- Page last reviewed:Feb 1, 2024
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