Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 901 Records) |
Query Trace: Genetic screening[original query] |
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Overview of Risk Factors for Esophageal Squamous Cell Carcinoma in China. Cancers 2023 12 15 (23): . Erica Conway, Haisheng Wu, Linwei Ti |
Population-Specific Distribution of TPMT Deficiency Variants and Ancestry Proportions in Ecuadorian Ethnic Groups: Towards Personalized Medicine. Therapeutics and clinical risk management 2023 12 19 1005-1018. Jennifer Gallardo-Cóndor, Pablo Naranjo, Sebastián Atarihuana, Dayana Coello, Patricia Guevara-Ramírez, Rodrigo Flores-Espinoza, Germán Burgos, Andrés López-Cortés, Alejandro Cabrera-Andra |
Association of Gene Polymorphisms with Breast Cancer Risk in the Kazakh Population. Asian Pacific journal of cancer prevention : APJCP 2023 12 24 (12): 4195-4207. Nasrulla Shanazarov, Yerbol Zhapparov, Raushan Kumisbekova, Dinara Turzhanova, Nargiz Zulkha |
Association of vitamin D-binding protein polymorphisms and serum 25(OH)D concentration varies among Chinese healthy infants of different VDR-FokI genotypes: A multi-centre cross-sectional study. Nutrition bulletin 2023 12 . Hing Wai Tsang, Keith T S Tung, Rosa S Wong, Siew Yan Wong, Joanna Y L Tung, Gilbert T Chua, Marco H K Ho, Chi Pui Pang, Wilfred H S Wong, Godfrey C F Chan, Ian C K Wong, Patrick |
Prevalence of Variants of Uncertain Significance in Patients Undergoing Genetic Testing for Hereditary Breast and Ovarian Cancer and Lynch Syndrome. Cancers 2023 12 15 (24): . Pavlina Chrysafi, Chinmay T Jani, Margaret Lotz, Omar Al Omari, Harpreet Singh, Katherine Stafford, Lipisha Agarwal, Arashdeep Rupal, Abdul Qadir Dar, Abby Dangelo, Prudence L |
GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism. Frontiers in endocrinology 2023 12 14 1254156. Auryan Szalat, Shoshana Shpitzen, Rena Pollack, Haggi Mazeh, Ronen Durst, Vardiella Mein |
Linking pathogenic and likely pathogenic gene variants to long-COVID symptoms. European review for medical and pharmacological sciences 2023 12 27 (6 Suppl): 20-32. C Micheletti, M C Medori, K Dhuli, P E Maltese, S Cecchin, G Bonetti, F Fioretti, L Assoni, A Calzoni, A Praderio, M G De Angelis, K Donato, G Arabia, L Lorusso, P Manganotti, E Capelli, G Marceddu, M Bertelli, S Noda |
Sex Differences in the Allele Distribution of PGLYRP2 Variant rs892145 in Parkinson's Disease. Parkinson's disease 2023 12 2023 6502727. Caroline Ran, Karin Wirdefeldt, Olof Sydow, Per Svenningsson, Rochellys Diaz Heij |
Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations. bioRxiv : the preprint server for biology 2023 12 . Zinan Zhou, Junho Kim, August Yue Huang, Matthew Nolan, Junseok Park, Ryan Doan, Taehwan Shin, Michael B Miller, Brian Chhouk, Katherine Morillo, Rebecca C Yeh, Connor Kenny, Jennifer E Neil, Chao-Zong Lee, Takuya Ohkubo, John Ravits, Olaf Ansorge, Lyle W Ostrow, Clotilde Lagier-Tourenne, Eunjung Alice Lee, Christopher A Wal |
Whole-Exome Sequencing Among School-Aged Children With High Myopia. JAMA network open 2023 12 6 (12): e2345821. Xiangyi Yu, Jian Yuan, Zhen Ji Chen, Kai Li, Yinghao Yao, Shilai Xing, Zhengbo Xue, Yue Zhang, Hui Peng, Gang An, Xiaoguang Yu, Jia Qu, Jianzhong Su, |
Genetic screening of 15 hearing loss variants in 77,647 neonates with clinical follow-up. Molecular genetics & genomic medicine 2023 12 e2324. Lin Kun, Huang Jiexiang, Lin Hua, Han Junlin, Ruan Yijun, Zhang Lixian, Chen Mingqi |
Prenatal diagnosis of fetal digestive system malformations and pregnancy outcomes at a tertiary referral center in Fujian, China: A retrospective study. Heliyon 2023 11 9 (11): e21546. Bin Liang, Fang Yang, Hailong Huang, Zhaozhen Liu, Qingqiang Ji, Yan Wang, Xiaoqing Wu, Yuan Lin, Lanting Xie, Wantong Zhao, Hua Cao, Liangpu Xu, Na L |
Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618Arg RET mutation in an Israeli multicenter study. Frontiers in endocrinology 2023 11 14 1268193. Rachel Chava Rosenblum, Dania Hirsch, Simona Grozinsky-Glasberg, Carlos Benbassat, Uri Yoel, Avraham Ishay, Sagit Zolotov, Gideon Bachar, Ehud Banne, Sigal Levy, Orit Twi |
The Landscape of Monogenic Parkinson's Disease in Populations of Non-European Ancestry: A Narrative Review. Genes 2023 11 14 (11): . Christos Koros, Anastasia Bougea, Athina Maria Simitsi, Nikolaos Papagiannakis, Efthalia Angelopoulou, Ioanna Pachi, Roubina Antonelou, Maria Bozi, Maria Stamelou, Leonidas Stefan |
Investigation of RFC1 tandem nucleotide repeat locus in diverse neurodegenerative outcomes in an Indian cohort. Neurogenetics 2023 11 . Nishu Tyagi, Bharathram Uppili, Pooja Sharma, Shaista Parveen, Sheeba Saifi, Abhinav Jain, Akhilesh Sonakar, Istaq Ahmed, Shweta Sahni, Uzma Shamim, Avni Anand, Varun Suroliya, Vivekanand Asokachandran, Achal Srivastava, Sridhar Sivasubbu, Vinod Scaria, Mohammed Far |
An analysis of variants in TARDBP in the Korean population with amyotrophic lateral sclerosis: comparison with previous data. Scientific reports 2023 11 13 (1): 18805. Wonjae Sung, Jin-Ah Kim, Yong Sung Kim, Jinseok Park, Ki-Wook Oh, Jung-Joon Sung, Chang-Seok Ki, Young-Eun Kim, Seung Hyun K |
The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients. Journal of neurology 2023 11 . Di He, Yining Liu, Siqi Dong, Dongchao Shen, Xunzhe Yang, Meng Hao, Xianhong Yin, Xinyi He, Yi Li, Yi Wang, Mingsheng Liu, Jiucun Wang, Xiangjun Chen, Liying C |
Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort. Frontiers in endocrinology 2023 10 14 1244361. Isabel Mazarico-Altisent, Ismael Capel, Neus Baena, Maria Rosa Bella-Cueto, Santi Barcons, Xavier Guirao, Rocío Pareja, Andreea Muntean, Valeria Arsentales, Assumpta Caixàs, Mercedes Rig |
Searching for new genes associated with the familial hypercholesterolemia phenotype using whole-genome sequencing and machine learning. Vavilovskii zhurnal genetiki i selektsii 2023 10 27 (5): 522-529. D E Ivanoshchuk, A B Kolker, O V Timoshchenko, S E Semaev, E V Shakhtshneid |
Clinicopathological and molecular analysis of microsatellite instability in prostate cancer: a multi-institutional study in China. Frontiers in oncology 2023 10 13 1277233. Huizhi Zhang, Xiaoqun Yang, Jialing Xie, Xiao Cheng, Jiayi Chen, Miaomiao Shen, Wenyi Ding, Suying Wang, Zhe Zhang, Chaofu Wang, Ming Zh |
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 DRD2, DRD4 and COMT genes variants and their gene-gene interactions with antipsychotic treatment response in patients with schizophrenia. BMC psychiatry 2023 10 23 (1): 781. Narges Taheri, Rokhshid Pirboveiri, Mehdi Sayyah, Mahdi Bijanzadeh, Pegah Ghand |
The blood count as a compass to navigate in the ever-changing landscape of the carrier state of hemoglobinopathies: a single-center Italian experience. Frontiers in pediatrics 2023 10 11 1228443. Silvio Marchesani, Margherita Di Mauro, Giulia Ceglie, Ginevra Grassia, Michaela Carletti, Rosa Carmela Cristofaro, Matilde Cossutta, Cristina Curcio, Giuseppe Palum |
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 |
PATHOLOGICAL SIGNIFICANCE OF CDH1/E-CADHERIN GERMLINE SEQUENCE VARIANTS IN BREAST CANCER PATIENTS. Experimental oncology 2023 10 45 (2): 170-179. S Tabassum, F Munir, A A Al Awadh, Z Anw |
Newborn screening for fatty acid oxidation disorders in a southern Chinese population. Heliyon 2024 1 10 (1): e23671. Yiming Lin, Chunmei Lin, Bangbang Lin, Zhenzhu Zheng, Weihua Lin, Yanru Chen, Dongmei Chen, Weilin Pe |
New insights into the genetics of mandibular retrognathism: novel candidate genes. Journal of orofacial orthopedics = Fortschritte der Kieferorthopadie : Organ/official journal Deutsche Gesellschaft fur Kieferorthopadie 2024 1 . Eva Paddenberg-Schubert, Erika Küchler, Caio Luiz Bitencourt Reis, Alice Corrêa Silva-Sousa, Christian Kirschne |
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 |
Germline DNA Damage Response Gene Mutations in Localized Prostate Cancer. Medicina (Kaunas, Lithuania) 2024 1 60 (1): . Tomas Januskevicius, Ieva Vaicekauskaite, Rasa Sabaliauskaite, Augustinas Matulevicius, Alvydas Vezelis, Albertas Ulys, Sonata Jarmalaite, Feliksas Jankevici |
Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia. Journal of translational medicine 2024 1 22 (1): 75. Yi Jiang, Xueshan Xiao, Wenmin Sun, Yingwei Wang, Shiqiang Li, Xiaoyun Jia, Panfeng Wang, J Fielding Hejtmancik, Qingjiong Zha |
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- Page last updated:Apr 22, 2024
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