Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 4955 Records) |
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| SCN5A mutation is associated with a higher Shanghai Score in patients with type 1 Brugada ECG pattern. Journal of cardiovascular medicine (Hagerstown, Md.) 2023 11 24 (12): 864-870. Laura Tonelli, Cristina Balla, Marianna Farnè, Alice Margutti, Eugenia Tiziana Maniscalchi, Gaetano De Feo, Assunta Di Domenico, Martina De Raffele, Antonio Percesepe, Vera Uliana, Valeria Barili, Walter Serra, Biagio Sassone, Santo Virzì, Elia De Maria, Giulia Parmeggiani, Gabriele Egidy Assenza, Elena Biagini, Vanda Parisi, Mauro Biffi, Valeria Carinci, Enrica Perugini, Paola Imbrici, Alessandra Ferlini, Matteo Bertini, Rita Selvatici, Francesca Gualan |
| [Assessment of environmental and genetic risk factors for the development of primary open-angle glaucoma]. Vestnik oftalmologii 2023 11 139 (5): 74-80. A N Samoylov, D Yu Plotnikov, P A Tumano |
| Genotype Mutations in Palestinian Children with Familial Mediterranean Fever: Clinical Profile, and Response to Colchicine Treatment: A Retrospective Cohort Study. Mediterranean journal of rheumatology 2023 11 34 (3): 332-341. Oadi N Shrateh, Mariam Thalji, Afnan W M Jobran, Aml M Brakat, Abdelrahman M Attia, Fawzy M Abunej |
| Novel association between single-nucleotide polymorphisms of IKK? at rs17875746 and rs12676482 and periodontitis. Dental and medical problems 2023 11 . Athraa Ali Mahmood, Raghad Fadhil Abbas, Hashim Mueen Husse |
| Pathogenic germline variants in BRCA1 and TP53 increase lung cancer risk in Chinese. Cancer medicine 2023 11 . Bing Wei, Jiadong Zhao, Jun Li, Junnan Feng, Manman Sun, Zhizhong Wang, Chao Shi, Ke Yang, Yue Qin, Jing Zhang, Jie Ma, Hui Do |
| Type 2 diabetes linked FTO gene variant rs8050136 is significantly associated with gravidity in gestational diabetes in a sample of Bangladeshi women: Meta-analysis and case-control study. PloS one 2023 11 18 (11): e0288318. U S Mahzabin Amin, Tahia Anan Rahman, Mashfiqul Hasan, Tania Tofail, Muhammad Abul Hasanat, Zeba I Seraj, Md Salimull |
| High polygenic risk score is a risk factor associated with colorectal cancer based on data from the UK Biobank. PloS one 2023 11 18 (11): e0295155. Mei Yang, Vagheesh M Narasimhan, F Benjamin Zh |
| Genetic Variants Associated with High Susceptibility of Premature Ischemic Stroke. Journal of the renin-angiotensin-aldosterone system : JRAAS 2023 11 2023 9002021. Irma Isordia-Salas, David Santiago-Germán, Rosa María Jiménez-Alvarado, Alfredo Leaños-Miran |
| Insights Into Cystic Fibrosis Gene Mutation Frequency, Clinical Findings, and Complications Among Pakistani Patients. Cureus 2023 11 15 (11): e48564. Asaf Syed, Anurag Rawat, Umer Bin Tariq, Ihteshamul Haq, Beenish Naz, Abrar Hussain, Mehdi Maqsood, Arsalan Rashe |
| Further Association of Germline CHEK2 Loss-of-Function Variants with Testicular Germ Cell Tumors. Journal of clinical medicine 2023 11 12 (22): . Kira Kirchner, Christoph Seidel, Finn-Ole Paulsen, Bianca Sievers, Carsten Bokemeyer, Davor Less |
| Association of Germline Variation in Driver Genes with Breast Cancer Risk in Chilean Population. International journal of molecular sciences 2023 11 24 (22): . Sebastián Morales-Pison, Julio C Tapia, Sarai Morales-González, Edio Maldonado, Mónica Acuña, Gloria M Calaf, Lilian Ja |
| Spectrum of histopathologic findings in risk-reducing bilateral prophylactic mastectomy in patients with and without BRCA mutations. Human pathology 2023 11 . Baris Boyraz, Amy |
| [Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 11 40 (12): 1551-1555. Yanlong Ren, Yahui Zhang, Xiaoping Zhang, Yueli Wang, Xuxia Liu, Jin Sheng, Shangqiu Ning, Wenxian Liu, Xiaoyan |
| [Clinical and genetic analysis of a patient with Loeys-Dietz syndrome due to variant of TGFBR2 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 11 40 (12): 1531-1535. Yueli Wang, Zhihua Kong, Long Wan, Aoxue Wang, Xiaoyan |
| 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 |
| Genetically proxied HTRA1 protease activity and circulating levels independently predict risk of ischemic stroke and coronary artery disease. Research square 2023 11 . Martin Dichgans, Rainer Malik, Nathalie Beaufort, Koki Tanaka, Marios Georgakis, Yunye He, Masaru Koido, Chikashi Terao, Christopher Anderson, Yoichiro Kamata |
| [Evaluation of Efficacy and Prognosis Analysis of Stage III-IV SMARCA4-deficient ?Non-small Cell Lung Cancer Treated by PD-1 Immune Checkpoint Inhibitors plus ?Chemotherapy and Chemotherapy]. Zhongguo fei ai za zhi = Chinese journal of lung cancer 2023 11 26 (9): 659-668. Xinjuan Wang, Meng Tu, Hongxia Jia, Hongping Liu, Yan Wang, Yibo Wang, Nan Jiang, Chunya Lu, Guojun Zha |
| Atypical hypertrophy of retinal pigment epithelium manifesting as the first sign of familial adenomatous polyposis. BMJ case reports 2023 11 16 (11): . João Ponces Ramalhão, Miguel Afonso, Mafalda Macedo, Maria Araú |
| Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2023 11 . Nan Hu, Lei Zhang, Dongchao Shen, Xunzhe Yang, Mingsheng Liu, Liying C |
| Prevalence of BRCA1 and BRCA2 germline variants in an unselected pancreatic cancer patient cohort in Pakistan. Hereditary cancer in clinical practice 2023 11 21 (1): 22. Noor Muhammad, Ayesha Azeem, Shumaila Arif, Humaira Naeemi, Iqra Masood, Usman Hassan, Bushra Ijaz, Faisal Hanif, Aamir Ali Syed, Muhammed Aasim Yusuf, Muhammad Usman Rash |
| The genetic spectrum of polycystic kidney disease in children. Revista da Associacao Medica Brasileira (1992) 2023 11 69 (11): e20230334. Ayca Kocaaga, Yesim Özdemir Atikel, Mehtap Sak, Taner Karaka |
| Clinical Heterogeneity in Patients with Long QT Syndrome and Segregation of Single Nucleotide Variants and Clinical Symptoms in 17 Affected Families. Molecular syndromology 2023 10 14 (5): 363-374. Elcin Bora, Ayca Y?ld?z Bulut, Tufan Cankaya, Tayfun Cinleti, Halise Zeynep Genç, Emin Evren Ozcan, Ebru Ozpelit, Ayfer Ulgenalp, Ahmet Okay Caglay |
| A de Novo BRCA1 Pathogenic Variant in a 29-Year-Old Woman with Triple-Negative Breast Cancer. Breast care (Basel, Switzerland) 2023 10 18 (5): 412-416. Paulina Gebhart, Yen Tan, Daniela Muhr, Christina Stein, Christian Sing |
| Genetic Polymorphism in FSCN1 rs3801004 C/G and CD44 rs353639 A/C, as Prognostic Factor in Egyptian Breast Cancer Patients. Asian Pacific journal of cancer prevention : APJCP 2023 10 24 (10): 3517-3523. Noha E Ibrahim, Reham Mohammad Raafat Hamed, Ahmed Refaat, Yasser O Mosaad, Dina Mohamed Meka |
| GRN Missense Variants and Familial Alzheimer's Disease: Two Case Reports. Journal of Alzheimer's disease : JAD 2023 10 . Assunta Ingannato, Valentina Bessi, Annalisa Chiari, Davide Salvatori, Silvia Bagnoli, Roberta Bedin, Camilla Ferrari, Sandro Sorbi, Benedetta Nacmi |
| Association of Genetic Polymorphisms with Abdominal Aortic Aneurysm in the Processes of Apoptosis, Inflammation, and Cholesterol Metabolism. Medicina (Kaunas, Lithuania) 2023 10 59 (10): . Nyityasmono Tri Nugroho, Monika Herten, Giovanni F Torsello, Nani Osada, Elena Marchiori, Sonja Sielker, Giovanni B Torsel |
| The Shortening of Leukocyte Telomere Length Contributes to Alzheimer's Disease: Further Evidence from Late-Onset Familial and Sporadic Cases. Biology 2023 10 12 (10): . Paolina Crocco, Francesco De Rango, Serena Dato, Rossella La Grotta, Raffaele Maletta, Amalia Cecilia Bruni, Giuseppe Passarino, Giuseppina Ro |
| The benefit of pancreatic cancer surveillance in carriers of germline BRCA1/2 pathogenic variants. Cancer 2023 10 . Ido Laish, Menachem Schechter, Alain Dancour, Sari Lieberman, Zohar Levi, Yael Goldberg, Inbal Kedar, Erez Hasnis, Elizabeth Half, Gili Reznick Levi, Lior Katz, Elez D Vainer, Dor Genzel, Maya Aharoni, Rakefet Chen-Shtoyerman, Naim Abu-Freha, Maria Raitses-Gurevich, Talia Golan, Rinat Bernstein-Molho, Merav Ben Yehoyada, Nathan Gluck, Guy Rosn |
| Genetic polymorphisms in ABCB1 are correlated with the increased risk of atorvastatin-induced muscle side effects: a cross-sectional study. Scientific reports 2023 10 13 (1): 17895. Ninoslava Lalatovi?, Maša Ždralevi?, Tanja Antunovi?, Snežana Pantov |
| Adoption of Universal Testing in Endometrial Cancers for Microsatellite Instability Using Next-Generation Sequencing. JCO precision oncology 2023 10 7 e2300033. Isabel V Rodriguez, Sarah Strickland, David Wells, Enna Manhardt, Eric Q Konnick, Rochelle Garcia, Elizabeth Swisher, Mark Kilgore, Barbara Norqui |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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