Human Genome Epidemiology Literature Finder
Rare Diseases
|
Records 1 - 30 (of 935 Records) |
| Query Trace: Focal Or Multifocal Malformations In Neuronal Migration[original query] |
|---|
| Systemic lupus erythematosus and epilepsy: A Mendelian randomization study. Epilepsia open 2024 9 . Yang Hu, Duo Lin, Dongmei Wu, Yuqing Zhang, Gongbo |
| Synergistic Effect between the APOE ?4 Allele with Genetic Variants of GSK3B and MAPT: Differential Profile between Refractory Epilepsy and Alzheimer Disease. International journal of molecular sciences 2024 9 25 (18): . Danira Toral-Rios, Pavel Pichardo-Rojas, Elizabeth Ruiz-Sánchez, Óscar Rosas-Carrasco, Rosa Carvajal-García, Dey Carol Gálvez-Coutiño, Nancy Lucero Martínez-Rodríguez, Ana Daniela Rubio-Chávez, Myr Alcántara-Flores, Arely López-Ramírez, Alma Rosa Martínez-Rosas, Ángel Alberto Ruiz-Chow, Mario Alonso-Vanegas, Victoria Campos-Pe |
| Association of SCN1A Polymorphisms rs3812718 and rs2298771 with Epilepsy. Genes 2024 9 15 (9): . Martha-Spyridoula Katsarou, Anna Siatouni, Danae Tsikrika, Elena Kokkiou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Stylianos Gatzonis, Nikolaos Drakoulis, Maria Papasav |
| Prevalence of Hypertrophic Cardiomyopathy and ALMS1 Variant in Sphynx Cats in New Zealand. Animals : an open access journal from MDPI 2024 9 14 (18): . Joonbum Seo, Yvonne Loh, David J Connolly, Virginia Luis Fuentes, Emily Dutton, Hayley Hunt, John S Mund |
| The causal association between epilepsy and amyotrophic lateral sclerosis: A two-sample Mendelian randomization study. Brain and behavior 2024 9 14 (10): e70018. Yayong Cui, Junyu Chen, Hong Li, Dong Zheng, Xiaolei S |
| Genomic landscape of hepatocellular carcinoma in Egyptian patients by whole exome sequencing. BMC medical genomics 2024 8 17 (1): 202. Perihan Hamdy Kassem, Iman Fawzy Montasser, Ramy Mohamed Mahmoud, Rasha Ahmed Ghorab, Dina A AbdelHakam, Marium El Sayed Ahmad Fathi, Marwa A Abdel Wahed, Khaled Mohey, Mariam Ibrahim, Mohamed El Hadidi, Yasmine M Masssoud, Manar Salah, Arwa Abugable, Mohamad Bahaa, Sherif El Khamisy, Mahmoud El Metei |
| [Prostate cancer with BRCA2 pathogenic mutation: a clinicopathological analysis]. Zhonghua bing li xue za zhi = Chinese journal of pathology 2024 8 53 (8): 789-796. D H Wang, W L Yin, X Y Pan, M N Zhang, L Nie, X Q Chen, H Zeng, Q Zhou, N Ch |
| Genetic associations between ULK3 and epilepsy: a two-sample Mendelian randomization study. Frontiers in neurology 2024 8 15 1376314. Baolai Liu, Keyi Fan, Xinyi Zheng, Yaochen Zhang, Shangkai Bai, Zhentong Liu, Shuhan Xu, Zhihao Su, Huiting Cao, Heyi Zhang, Shengxiao Zha |
| Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations. Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association 2024 8 107947. Gustavo da Fontoura Galvão, Luisa Menezes Trefilio, Andreza Lemos Salvio, Elielson Veloso da Silva, Soniza Vieira Alves-Leon, Fabrícia Lima Fontes-Dantas, Jorge Marcondes de Sou |
| Exploring the role of interleukin-6 receptor blockade in epilepsy and associated neuropsychiatric conditions through a mendelian randomization study. World journal of psychiatry 2024 8 14 (8): 1244-1253. Yan-Mei Yu, Gui-Hong Jin, Chong Zhong, Hao Qian, Lei Wang, Feng Zh |
| Case report: ATM A1159T mutation in malignant peritoneal mesothelioma may be associated with tumor recurrence. SAGE open medical case reports 2024 8 12 2050313X241271818. Ying Li, Jintao Yang, Bei Zheng, Na Yan, Wenjuan Yang, Xinling Xie, Guoshu Xu, Meiling Zha |
| Atopic diseases and the risk of alopecia areata among pre-teens and teenagers in Taiwan. Indian journal of dermatology, venereology and leprology 2024 8 1-6. Ying-Yi Lu, Ming-Kung Wu, Chun-Ching Lu, Wei-Ting Wang, Chieh-Hsin |
| Phenotypic and genotypic characteristics of children with PCDH19 clustering epilepsy in China. Seizure 2024 8 121 95-104. Weixing Feng, Zihan Wang, Xiaohui Wang, Shuhua Chen, Xiaoyi Chen, Chunhong Chen, Jie Deng, Xiuwei Zhuo, Jing Wa |
| Copy number alterations in metastatic and early breast tumours: prognostic and acquired biomarkers of resistance to CDK4/6 inhibitors. British journal of cancer 2024 8 . Marie-Paule Sablin, Pierre Gestraud, Sarah Flora Jonas, Constance Lamy, Magali Lacroix-Triki, Thomas Bachelot, Thomas Filleron, Ludovic Lacroix, Alicia Tran-Dien, Pascal Jézéquel, Marjorie Mauduit, Janice Barros Monteiro, Marta Jimenez, Stefan Michiels, Valery Attignon, Isabelle Soubeyran, Keltouma Driouch, Nicolas Servant, Christophe Le Tourneau, Maud Kamal, Fabrice André, Ivan Bièc |
| Kataegis associated mutational processes linked to adverse prostate cancer presentation in African men. Research square 2024 7 . Vanessa Hayes, Jue Jiang, Avraam Tapinos, Ruotian Huang, Riana Bornman, Phillip Stricker, Shingai Mutambirwa, David Wedge, Weerachai Jaratlerdsi |
| Identification of differentially expressed genes to predict the risk of heart failure in older patients with hypertrophic cardiomyopathy. Aging 2024 7 16 . Hao Dong, Chufan Yin, Dongping Xiao, Yong Ta |
| Whole-exome sequencing reveals novel cancer genes and actionable targets in biliary tract cancers in primary sclerosing cholangitis. Hepatology communications 2024 7 8 (7): . Marit M Grimsrud, Michael Forster, Benjamin Goeppert, Georg Hemmrich-Stanisak, Irmi Sax, Krzysztof Grzyb, Peder R Braadland, Alphonse Charbel, Carmen Metzger, Thomas Albrecht, Tim Alexander Steiert, Matthias Schlesner, Michael P Manns, Arndt Vogel, Sheraz Yaqub, Tom H Karlsen, Peter Schirmacher, Kirsten M Boberg, Andre Franke, Stephanie Roessler, Trine Folsera |
| Causal relations between ischemic stroke and epilepsy: A bidirectional Mendelian randomization study. Heliyon 2024 7 10 (11): e32532. Zongzhi Jiang, Yining Sun, Ziyi Wang, Songyan L |
| Genotype-relevant neuroimaging features in low-grade epilepsy-associated tumors. Frontiers in neurology 2024 7 15 1419104. Keiya Iijima, Hiroyuki Fujii, Fumio Suzuki, Kumiko Murayama, Yu-Ichi Goto, Yuko Saito, Terunori Sano, Hiroyoshi Suzuki, Hajime Miyata, Yukio Kimura, Takuma Nakashima, Hiromichi Suzuki, Masaki Iwasaki, Noriko Sa |
| Surgical outcomes of patients with genetically refractory epilepsy: A systematic review and meta-analysis. Seizure 2024 7 120 124-134. Tian-Yi Cui, Han Wu, Chong-Yang Tang, Xiong-Fei Wang, Tian-Fu Li, Jian Zh |
| Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study. Epilepsy research 2024 7 205 107399. Nihal Y?ld?z, Esra Serdaro?lu, P?nar Özkan Kart, Seyda Besen, Seda Kanmaz, Dilara Ece Toprak, Betul Kilic, Ozlem Ersoy, P?nar Gencpinar, Nihal Olgac Dundar, Cetin Okuyaz, Ayse Serdaroglu, Kursat Bora Carman, Co?kun Yarar, Bar?? Ekici, Burak Tatl?, ?lknur Erol, Kür?ad Ayd?n, Hasan Tekgül, Ali Can |
| Multi-regional sequencing reveals the genetic and immune heterogeneity of non-cancerous tissues in gastric cancer. The Journal of pathology 2024 6 . Yong Zhou, Shen Li, Yingqi Hu, Xiao Xu, Jiantao Cui, Shuaicheng Li, Ziyu Li, Jiafu Ji, Rui Xi |
| Genetic Testing for Global Developmental Delay in Early Childhood. JAMA network open 2024 6 7 (6): e2415084. Jiamei Zhang, Yiran Xu, Yun Liu, Ling Yue, Hongfang Jin, Yongqian Chen, Dong Wang, Mingmei Wang, Gongxun Chen, Lei Yang, Guangyu Zhang, Xiaoli Zhang, Sansong Li, Huiling Zhao, Yunxia Zhao, Guohui Niu, Yongqiang Gao, Zhijun Cai, Fan Yang, Changlian Zhu, Dengna Z |
| Changes in the expression of cell interaction-related pathways during brain metastasis in lung adenocarcinoma: Gene expression and immunohistochemical analysis. Pathology, research and practice 2024 6 260 155375. Young Wha Koh, Jae-Ho Han, Seokjin Haam, Hyun Woo L |
| Evaluation of pathogenicity of WT1 intron variants by in vitro splicing analysis. Clinical and experimental nephrology 2024 6 . Seiya Inoue, Atsushi Kondo, Yuta Inoki, Yuta Ichikawa, Yu Tanaka, Chika Ueda, Hideaki Kitakado, Ryota Suzuki, Eri Okada, Nana Sakakibara, Tomoko Horinouchi, Kandai No |
| Mutational characteristics and clinical outcomes for lung adenocarcinoma with EGFR germline mutations. Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2024 6 . Kelsey Pan, Jennifer Owens, Yasir Elamin, Charles Lu, Mark Routbort, Jianjun Zhang, Frank Fossella, Marcelo V Negrao, Mehmet Altan, Jenny Pozadzides, Ferdinandos Skoulidis, Anne Tsao, Tina Cascone, John V Heymach, Edwin Ostrin, Xiuning |
| Genome-wide association neural networks identify genes linked to family history of Alzheimer's disease. Briefings in bioinformatics 2025 1 26 (1): . Upamanyu Ghose, William Sproviero, Laura Winchester, Najaf Amin, Taiyu Zhu, Danielle Newby, Brittany S Ulm, Angeliki Papathanasiou, Liu Shi, Qiang Liu, Marco Fernandes, Cassandra Adams, Ashwag Albukhari, Majid Almansouri, Hani Choudhry, Cornelia van Duijn, Alejo Nevado-Holga |
| Unveiling the Role of SLC6A17 in Lung Adenocarcinoma: Prognosis, Pathways, and Therapeutic Implications. Current medicinal chemistry 2025 1 . Ping Chen, Jingbo Li, JiFan Wen, Dongbing Li, Yingjie |
| Microenhancement as a Biomarker for Cerebral Microbleed in Inflammatory Cerebral Amyloid Angiopathy: Insights From 3D T1 Black-Blood MR Imaging. Neurology 2025 1 104 (2): e210258. Ty Shang, Peter V Sguigna, Marco C Pinho, William Moore, Erica Jones, Suriya Subramanian, Parth Upadhyaya, Brendan Kelley, Kimmo J Hatanpaa, Jack Raisan |
| Anatomizing Causal Relationships Between Gut Microbiota, Plasma Metabolites, and Epilepsy: A Mendelian Randomization Study. Neurochemistry international 2025 1 105924. Xi Wang, Haowen Duan, Fengfei Lu, Xinyue Yu, Minghan Xie, Peiyi Chen, Junjie Zou, Lijie Gao, Yingqian Cai, Rongqing Chen, Yanwu G |
- Page last reviewed:Feb 1, 2024
- Content source: