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Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy. Renal failure 2024 4 46 (1): 2332491. Yan Qin, Xiao-Jing Sun, Yi-Fang Hu, Meng Jing, Xiao-Juan Yu, Ming-Hui Zhao, Ying T |
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent. The Journal of molecular diagnostics : JMD 2024 4 . Arul Joseph Duraisamy, Ruby Liu, Shruti Sureshkumar, Rajiv Rose, Lakshmanan Jagannathan, Cristina da Silva, Adam Coovadia, Vinish Ramachander, Sathyapriya Chandrasekar, Indu Raja, Manisha Sajnani, Sreekanth Muthu Selvaraj, Bhuvandeep Narang, Katayoon Darvishi, Amar Chand Bhayal, Lavanya Katikala, Fen Guo, Xiangwen Chen-Deutsch, Jorune Balciuniene, Zeqiang Ma, Babi Ramesh Reddy Nallamilli, Lora Bean, Christin Collins, Madhuri Heg |
Testing region selection and prognostic analysis of MLH1 promoter methylation in colorectal cancer in China. Gastroenterology report 2024 4 12 goae011. Xiaoli Tan, Yongzhen Fang, Xinjuan Fan, Weihao Deng, Jinglin Huang, Yacheng Cai, Jiaxin Zou, Zhiting Chen, Hanjie Lin, Liang Xu, Guannan Wang, Huanmiao Zhan, Shuhui Huang, Xinhui |
[Prenatal diagnosis of a case with Congenital myasthenic syndrome due to compound heterozygous variants of SCN4A gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (4): 450-455. Fanrong Meng, Yunfang Shi, Duan Ju, Xiuyan Wang, Haiwei Dong, Xuebing Li, Xiaozhou Li, Xuexia Zh |
Delving the vitamin D receptor variation and expression profiles in the context of type 2 diabetes among families. Molecular biology reports 2024 4 51 (1): 514. Asia Parveen, Andleeb Batool, Abdul Wajid, Maryam Mukhtar, Khajid Ullah Khan, Aqsa Zahid, Anjum Jabeen, Kashif Iqbal Sahibza |
News event memory in amnestic and non-amnestic MCI, heritable risk for dementia, and subjective memory complaints. Neuropsychologia 2024 4 108887. Isabel Asp, Andrew T J Cawley-Bennett, Jennifer C Frascino, Shahrokh Golshan, Mark W Bondi, Christine N Smi |
Assessment of Stx-1A gene polymorphism (rs1569061) in relation to the development of multiple sclerosis in Egyptian patients. The Egyptian journal of immunology 2024 4 31 (2): 18-27. Christine A Habib, Aziza A El-Sebai, Mohamed M Fouad, Marwa A El-Mohamdy, Amani M Abdel Ghani, Somia A Bawa |
Association between hypertrophic cardiomyopathy and variations in sarcomere gene and calcium channel gene in adults. Cardiology 2024 4 . Jia Zhao, Bo Wang, Shengjun Ta, Xiaonan Lu, Xueli Zhao, Jiao Liu, Jiarui Yuan, Jing Wang, Liwen L |
RAB32 Ser71Arg in autosomal dominant Parkinson's disease: linkage, association, and functional analyses. The Lancet. Neurology 2024 4 . Emil K Gustavsson, Jordan Follett, Joanne Trinh, Sandeep K Barodia, Raquel Real, Zhiyong Liu, Melissa Grant-Peters, Jesse D Fox, Silke Appel-Cresswell, A Jon Stoessl, Alex Rajput, Ali H Rajput, Roland Auer, Russel Tilney, Marc Sturm, Tobias B Haack, Suzanne Lesage, Christelle Tesson, Alexis Brice, Carles Vilariño-Güell, Mina Ryten, Matthew S Goldberg, Andrew B West, Michele T Hu, Huw R Morris, Manu Sharma, Ziv Gan-Or, Bedia Samanci, Pawel Lis, Maria Teresa Periñan, Rim Amouri, Samia Ben Sassi, Faycel Hentati, , Francesca Tonelli, Dario R Alessi, Matthew J Farr |
Impact of Family History and Germline Genetic Risk Single Nucleotide Polymorphisms on Long-Term Outcomes of Favorable-Risk Prostate Cancer. The Journal of urology 2024 4 101097JU0000000000003927. Florian Rumpf, Anna Plym, Jane B Vaselkiv, Kathryn L Penney, Mark A Preston, Adam S Kibel, Lorelei A Mucci, Keyan Sala |
Pioneering use of genetic analysis for CDH1 to identify candidates for prophylactic total gastrectomy to prevent hereditary diffuse gastric cancer. eGastroenterology 2024 1 1 (2): . Farzad Mokhtari-Esbuie, Bryan Szeglin, Mohsen Rouhani Ravari, Mark Duncan, John W Harm |
Genome-wide polygenic risk scores for colorectal cancer have implications for risk-based screening. British journal of cancer 2024 1 . Max Tamlander, Bradley Jermy, Toni T Seppälä, Martti Färkkilä, , Elisabeth Widén, Samuli Ripatti, Nina Ma |
Accumulation Area of a Japanese PRNP P102L Variant: The Ariake PRNP P102L Variant. Journal of clinical neurology (Seoul, Korea) 2024 1 . Kohei Suzuyama, Makoto Eriguchi, Hiromu Minagawa, Hiroyuki Honda, Keita Kai, Tetsuyuki Kitamoto, Hideo Ha |
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa. Ophthalmic genetics 2024 1 1-6. Jianfu Zhuang, Rongcai Zhang, Biting Zhou, Zongfu Cao, Jie Zhou, Xiaole Chen, Nanwen Zhang, Yihua Zhu, Juhua Ya |
Investigation of Genetic Alterations Associated With Interval Breast Cancer. JAMA oncology 2024 1 . Juan Rodriguez, Felix Grassmann, Qingyang Xiao, Mikael Eriksson, Xinhe Mao, Svetlana Bajalica-Lagercrantz, Per Hall, Kamila Cze |
ATR1 A1166C (rs5186), FII G20210A (rs1799963), FV G1691A (rs6025), FXIII 97G?>?T (rs11466016) and MTHFR A1298C (rs1801131) polymorphisms and the risk of ST-elevation myocardial infarction in young Mexican individuals. Molecular biology reports 2024 1 51 (1): 208. Irma Isordia-Salas, David Santiago-Germán, Rosa María Jiménez-Alvarado, Reyes Ismael Carrillo-Juárez, Alfredo Leaños-Miran |
Polygenic Risk in Families With Spontaneous Coronary Artery Dissection. JAMA cardiology 2024 1 . Ingrid Tarr, Stephanie Hesselson, Michael Troup, Paul Young, Jamie-Lee Thompson, Lucy McGrath-Cadell, Diane Fatkin, Sally L Dunwoodie, David W M Muller, Siiri E Iismaa, Jason C Kovacic, Robert M Graham, Eleni Giannoulat |
Reverse Phenotypes of Patients with Genetically Confirmed Liddle's Syndrome. Clinical journal of the American Society of Nephrology : CJASN 2024 1 . Granhøj Jeff, Nøhr Thomas K, Hinrichs Gitte R, Rasmussen Maria, Svenningsen P |
BRCA mutation status and pathological characterization of breast cancer in Zhoushan Islands, China. The Journal of international medical research 2024 1 52 (1): 3000605231223426. Shuhui Bao, Nini Sun, Yaling Li, Jiaojie Shu, Jing Xu, Yong Zhang, Xia Q |
Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study. Journal of clinical medicine 2024 1 13 (2): . Adrian Mahlmann, Nesma Elzanaty, Mai Saleh, Marc Irqsusi, Ardawan Rastan, Jennifer Lynne Leip, Christian-Alexander Behrendt, Tamer Gha |
Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia. Biomedicines 2024 1 12 (1): . Jan Nicolai Wagner, Maximilian Al-Bazaz, Anika Forstreuter, Mohammad Ibrahim Hammada, Jurek Hille, Dzhoy Papingi, Carsten Bokemeyer, Walter Fiedl |
Increased risk of contralateral breast cancer for BRCA1/2 wild-type, high-risk Korean breast cancer patients: a retrospective cohort study. Breast cancer research : BCR 2024 1 26 (1): 14. Eunhye Kang, Ji-Jung Jung, Changjin Lim, Hong-Kyu Kim, Han-Byoel Lee, Wonshik Han, Hyeong-Gon Mo |
Beyond C9orf72: repeat expansions and copy number variations as risk factors of amyotrophic lateral sclerosis across various populations. BMC medical genomics 2024 1 17 (1): 30. Zsófia Flóra Nagy, Margit Pál, József I Engelhardt, Mária Judit Molnár, Péter Klivényi, Márta Szé |
Blood Eosinophil Count and Its Determinants in a Chinese Population-Based Cohort. Respiration; international review of thoracic diseases 2024 1 1-9. Mei Yang, Yao Lv, Shijie Tang, Dan Xu, Diandian Li, Zenglin Liao, Xiaoou Li, Lei Ch |
Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population. Audiology & neuro-otology 2024 1 1-8. Khawla El Fizazi, Meriame Abbassi, Samira Nmer, Hajar Laamarti, Mohamed Noureddine ElAlami, Karim Ouldim, Laila Bouguenouch, Mohammed Rid |
Significance of Gastrokine-1 Polymorphism Rs4254535 as a Prognostic Marker and its Association with Clinical Characteristics in Chinese Lung Cancer Patients. International journal of medical sciences 2024 1 21 (3): 474-482. Zixiu Zou, Chang Xu, Zhengxing Li, Yajun Yang, Yutao Li, Zhenyu Sun, Qiang Li, Miao Li, Yuxin Chen, Gengxi Jiang, Man Xiao, Shicheng Guo, Yi Wang, Haijian Wang, Fan Xia, Yan Shang, Junjie |
Association Between Germline BRCA1/2 Gene Variants and Clinicopathological Features of Ovarian Cancer. International journal of general medicine 2024 1 17 75-84. Yu Luo, Ru Pan, Hui Rao, Xing Chen, Haikun Ya |
Clinical and genetic profile of patients with dystonia: An experience from a tertiary neurology center from India. Parkinsonism & related disorders 2024 1 120 105986. Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Ravi Yadav, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar P |
Efficacy of fertility-sparing treatment with LNG-IUS is associated with different ProMisE subtypes of endometrial carcinoma or atypical endometrial hyperplasia. Journal of gynecologic oncology 2024 1 . Xiaofeng Lv, Lili Guo, Changyu Wa |
Role of Single-Nucleotide Polymorphisms in Genes Implicated in Capecitabine Pharmacodynamics on the Effectiveness of Adjuvant Therapy in Colorectal Cancer. International journal of molecular sciences 2024 1 25 (1): . Yasmin Cura, Almudena Sánchez-Martín, Noelia Márquez-Pete, Encarnación González-Flores, Fernando Martínez-Martínez, Cristina Pérez-Ramírez, Alberto Jiménez-Moral |
The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort. Cancers 2024 1 16 (1): . Aasem Abu Shtaya, Inbal Kedar, Samar Mattar, Ahmad Mahamid, Lina Basel-Salmon, Sarit Farage Barhom, Sofia Naftaly Nathan, Nurit Magal, Noy Azulay, Michal Levy Zalcberg, Rakefet Chen-Shtoyerman, Ori Segol, Mor Seri, Gili Reznick Levi, Shiri Shkedi-Rafid, Chana Vinkler, Iris Netzer, Ofir Hagari Bechar, Liat Chamma, Sari Liberman, Yael Goldbe |
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- Page last updated:Apr 22, 2024
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