Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 116 Records) |
| Query Trace: Disease and NKX2-3[original query] |
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| High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism. PloS one 2018 13 (9): e0204323. Makretskaya Nina, Bezlepkina Olga, Kolodkina Anna, Kiyaev Alexey, Vasilyev Evgeny V, Petrov Vasily, Kalinenkova Svetlana, Malievsky Oleg, Dedov Ivan I, Tiulpakov Anato |
| Variants in NKX2-5 and FLNC Cause Dilated Cardiomyopathy and Sudden Cardiac Death. Circulation. Genomic and precision medicine 2018 08 11 (8): e002151. Sveinbjornsson Gardar, Olafsdottir Eva F, Thorolfsdottir Rosa B, Davidsson Olafur B, Helgadottir Anna, Jonasdottir Adalbjorg, Jonasdottir Aslaug, Bjornsson Eythor, Jensson Brynjar O, Arnadottir Gudny A, Kristinsdottir Hallfridur, Stephensen Sigurdur S, Oskarsson Gylfi, Gudbjartsson Tomas, Sigurdsson Emil L, Andersen Karl, Danielsen Ragnar, Arnar David O, Jonsdottir Ingileif, Thorsteinsdottir Unnur, Sulem Patrick, Thorgeirsson Gudmundur, Gudbjartsson Daniel F, Holm Hilma, Stefansson Ka |
| Novel Point Mutations in the NKX2.5 Gene in Pediatric Patients with Non-Familial Congenital Heart Disease. Medicina (Kaunas, Lithuania) 2018 10 54 (3): . Khatami Mehri, Mazidi Mansoureh, Taher Shabnam, Heidari Mohammad Mehdi, Hadadzadeh Meh |
| The Functional Polymorphism R129W in the BVES Gene Is Associated with Sporadic Tetralogy of Fallot in the Han Chinese Population. Genetic testing and molecular biomarkers 2019 8 23 (9): 601-609. Shi Yan, Li Yongqing, Wang Yuequn, Zhuang Jian, Wang Heng, Hu Min, Mo Xiaoyang, Yue Shusheng, Chen Yu, Fan Xiongwei, Chen Jimei, Cai Wanwan, Zhu Xiaolan, Wan Yongqi, Zhong Ying, Ye Xiangli, Li Fang, Zhou Zuoqiong, Dai Guo, Luo Rong, Ocorr Karen, Jiang Zhigang, Li Xiaoping, Zhu Ping, Wu Xiushan, Yuan Wuzh |
| Genetic analyses in a cohort of Portuguese pediatric patients with congenital hypothyroidism. Journal of pediatric endocrinology & metabolism : JPEM 2019 8 32 (11): 1265-1273. Santos-Silva Rita, Rosário Marta, Grangeia Ana, Costa Carla, Castro-Correia Cíntia, Alonso Isabel, Leão Miguel, Fontoura Manu |
| Association of functional variant in GDF1 promoter with risk of congenital heart disease and its regulation by Nkx2.5. Clinical science (London, England : 1979) 2019 Jun . Gao Xiaobo, Zheng Panpan, Yang Liping, Luo Haiyan, Zhang Chen, Qiu Yongqiang, Huang Guoying, Sheng Wei, Ma Xu, Lu Caili |
Loci for human leukocyte telomere length in the Singaporean Chinese population and trans-ethnic genetic studies.
Nature communications 2019 06 10 (1): 2491. Dorajoo Rajkumar, Chang Xuling, Gurung Resham Lal, Li Zheng, Wang Ling, Wang Renwei, Beckman Kenneth B, Adams-Haduch Jennifer, M Yiamunaa, Liu Sylvia, Meah Wee Yang, Sim Kar Seng, Lim Su Chi, Friedlander Yechiel, Liu Jianjun, van Dam Rob M, Yuan Jian-Min, Koh Woon-Puay, Khor Chiea Chuen, Heng Chew-Ki |
| Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children. Molecular genetics & genomic medicine 2019 Mar e612. Behiry Eman G, Al-Azzouny Mahmoud A, Sabry Dina, Behairy Ola G, Salem Nessrine |
| Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn's Disease and Perianal Fistula Crohn's Disease: A Study among the Han Population from South China. Medical science monitor : international medical journal of experimental and clinical research 2019 Dec 25 9637-9650. Zhang Min, Wang Xiaoyan, Jiang Xiaodong, Yang Xiangling, Wen Chuangyu, Zhi Min, Gao Xiang, Hu Pinjin, Liu Huanlia |
| Delineation of molecular findings by whole-exome sequencing for suspected cases of paediatric-onset mitochondrial diseases in the Southern Chinese population. Human genomics 2020 Sep 14 (1): 28. Tsang Mandy H Y, Kwong Anna K Y, Chan Kate L S, Fung Jasmine L F, Yu Mullin H C, Mak Christopher C Y, Yeung Kit-San, Rodenburg Richard J T, Smeitink Jan A M, Chan Rachel, Tsoi Thomas, Hui Joannie, Wong Shelia S N, Tai Shuk-Mui, Chan Victor C M, Ma Che-Kwan, Fung Sharon T H, Wu Shun-Ping, Chak W K, Chung Brian H Y, Fung Cheuk-Wi |
| Association between congenital heart disease and NKX2.5 gene polymorphisms: systematic review and meta-analysis. Biomarkers in medicine 2020 12 14 (18): 1747-1757. González-Castro Thelma B, Tovilla-Zárate Carlos A, López-Narvaez María L, Juárez-Rojop Isela E, Calderón-Colmenero Juan, Sandoval Juan P, García-Montes José A, Blachman-Braun Ruben, Castillo-Avila Rosa G, García-Flores Esbeidy, Cazarín-Santos Benny G, Borgonio-Cuadra Verónica M, Posadas-Sánchez Rosalinda, Vargas-Alarcón Gilberto, Rodríguez-Pérez José M, Pérez-Hernández Nonanz |
| Association of Maternal Diabetes Mellitus and Polymorphisms of the NKX2.5 Gene in Children with Congenital Heart Disease: A Single Centre-Based Case-Control Study. Journal of diabetes research 2020 2020 3854630. Zhao Mingyi, Diao Jingyi, Huang Peng, Li Jinqi, Li Yihuan, Yang Yang, Luo Liu, Zhang Senmao, Chen Letao, Wang Tingting, Zhu Ping, Qin Jia |
| Association of NFKB1, NKX2-5, GATA4 and RANKL Gene Polymorphisms with Sporadic Congenital Heart Disease in Greek Patients. Balkan journal of medical genetics : BJMG 2021 8 24 (1): 15-20. Aidinidou L, Chatzikyriakidou A, Giannopoulos A, Karpa V, Tzimou I, Aidinidou E, Fidani |
| Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience. Acta diabetologica 2021 8 58 (12): 1689-1700. Laimon Wafaa, El-Ziny Magdy, El-Hawary Amany, Elsharkawy Ashraf, Salem Nanees Abdel-Badie, Aboelenin Hadil Mohamed, Awad Mohammad Hosny, Flanagan Sarah E, De Franco Eli |
| The role of NKX2-5 gene polymorphisms in congenital heart disease (CHD): a systematic review and meta-analysis. The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology 2021 Aug 73 (1): 72. Ashiq Sana, Ashiq Kanwal, Sabar Muhammad Faro |
| Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan. Clinica chimica acta; international journal of clinical chemistry 2021 3 518 162-169. Li Liangshan, Jia Chenlu, Li Xiaole, Wang Fang, Wang Yangang, Chen Yanping, Liu Shiguo, Zhao Deh |
| Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders. The Journal of clinical endocrinology and metabolism 2021 Mar . Vishnopolska Sebastian Alexis, Mercogliano Maria Florencia, Camilletti Maria Andrea, Mortensen Amanda Helen, Braslavsky Debora, Keselman Ana, Bergadá Ignacio, Olivieri Federico, Miranda Lucas, Marino Roxana, Ramírez Pablo, Pérez Garrido Natalia, Patiño Mejia Helen, Ciaccio Marta, Di Palma Maria Isabel, Belgorosky Alicia, Martí Marcelo Adrian, Kitzman Jacob Otto, Camper Sally Ann, Pérez-Millán Maria In |
| Alpha synuclein (SNCA) rs7684318 variant contributes to Parkinson's disease risk by altering transcription factor binding related with Notch and Wnt signaling. Neuroscience letters 2021 04 750 135802. Naushad Shaik Mohammad, Hussain Tajamul, Alrokayan Salman, Kutala Vijay Kum |
| Genetic variants involved in innate immunity modulate the risk of inflammatory bowel diseases in an understudied Malaysian population. Journal of gastroenterology and hepatology 2021 12 37 (2): 342-351. Luu Laurence Don Wai, Popple Georgia, Tsang Samuel Pok Wei, Vinasco Karla, Hilmi Ida, Ng Ruey Terng, Chew Kee Seang, Wong Shin Yee, Riordan Stephen, Lee Way Seah, Mitchell Hazel M, Kaakoush Nadeem O, Castaño-Rodríguez Natal |
| Implication of rare genetic variants of NODAL and ACVR1B in congenital heart disease patients from Indian population. Experimental cell research 2021 10 409 (1): 112869. Yadav Manohar Lal, Ranjan Prashant, Das Parimal, Jain Dharmendra, Kumar Ashok, Mohapatra Bhagyalax |
| Rare surfactant-related variants in familial and sporadic pulmonary fibrosis. Human mutation 2022 Sep . Sutton Rachel M, Bittar Humberto Trejo, Sullivan Daniel I, Silva Agustin Gil, Bahudhanapati Harinath, Parikh Anishka H, Zhang Yingze, Gibson Kevin, McDyer John F, Kass Daniel J, Alder Jonathan |
| Mutational and bioinformatics analysis of the NKX2.1 gene in a cohort of Iranian pediatric patients with congenital hypothyroidism (CH). Physiology international 2022 Jun 109 (2): 261-277. Heidari Mohammad Mehdi, Madani Manshadi Seyed Ali, Eshghi Ahmad Reza, Talebi Fatemeh, Khatami Mehri, Bragança José, Ordooei Mahtab, Chamani Reyhane, Ghasemi Farzan |
| Association between single-nucleotide polymorphisms of NKX2.5 and congenital heart disease in Chinese population: A meta-analysis. Open life sciences 2022 6 17 (1): 473-482. Chen Huan, Li Tianjiao, Wu Yuqing, Wang Xi, Wang Mingyuan, Wang Xin, Fang Xiaoli |
| Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis. Endocrine 2022 5 77 (1): 86-101. Molina Maricel F, Papendieck Patricia, Sobrero Gabriela, Balbi Viviana A, Belforte Fiorella S, Martínez Elena Bueno, Adrover Ezequiela, Olcese María C, Chiesa Ana, Miras Mirta B, González Verónica G, Pio Mauricio Gomes, González-Sarmiento Rogelio, Targovnik Héctor M, Rivolta Carina |
| Associations between NKX2-5 gene polymorphisms and congenital heart disease in the Chinese Tibetan population. American journal of translational research 2022 12 14 (11): 8407-8415. Ma Qiang, Yang Yingzhong, Liu Yongni |
| Prioritizing Cardiovascular Disease-Associated Variants Altering NKX2-5 Binding through an Integrative Computational Approach. medRxiv : the preprint server for health sciences 2023 9 . Edwin G Peña-Martínez, Diego A Pomales-Matos, Alejandro Rivera-Madera, Jean L Messon-Bird, Joshua G Medina-Feliciano, Leandro Sanabria-Alberto, Adriana C Barreiro-Rosario, Jessica M Rodriguez-Rios, José A Rodríguez-Martín |
| Identification of BMP10 as a Novel Gene Contributing to Dilated Cardiomyopathy. Diagnostics (Basel, Switzerland) 2023 1 13 (2): . Gu Jia-Ning, Yang Chen-Xi, Ding Yuan-Yuan, Qiao Qi, Di Ruo-Min, Sun Yu-Min, Wang Jun, Yang Ling, Xu Ying-Jia, Yang Yi-Qi |
| Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias. Circulation. Genomic and precision medicine 2024 5 e004320. Lu-Chen Weng, Shaan Khurshid, Amelia Weber Hall, Victor Nauffal, Valerie N Morrill, Yan V Sun, Joel T Rämö, Dominik Beer, Simon Lee, Girish Nadkarni, Renee Johnson, Laura Andreasen, Anne Clayton, Clive R Pullinger, Zachary T Yoneda, Daniel J Friedman, Matthew C Hyman, Renae L Judy, Allan C Skanes, Kate M Orland, Paloma Jordà, Timothy M Treu, Matthew T Oetjens, Rajesh Subbiah, Jacob P Hartmann, Heidi T May, John P Kane, Tariq Z Issa, Navid A Nafissi, Peter Leong-Sit, Marie-Pierre Dubé, Carolina Roselli, Seung Hoan Choi, , Jean-Claude Tardif, Habib R Khan, Stacey Knight, Jesper H Svendsen, Bruce Walker, Richard Karlsson Linnér, J Michael Gaziano, Rafik Tadros, Diane Fatkin, Daniel J Rader, Svati H Shah, Dan M Roden, Gregory M Marcus, Ruth J F Loos, Scott M Damrauer, Christopher M Haggerty, Kelly Cho, Aarno Palotie, Morten S Olesen, Lee L Eckhardt, Jason D Roberts, Michael J Cutler, M Benjamin Shoemaker, Peter W F Wilson, Patrick T Ellinor, Steven A Lubi |
| NKX2?1 copy number alterations are associated with oncogenic, immunological and prognostic remodeling in non?small cell lung cancer. Oncology letters 2024 5 28 (1): 303. Herdee Gloriane C Luna, Marcelo Severino Imasa, Necy Juat, Katherine V Hernandez, Treah May Sayo, Gloria Cristal-Luna, Sheena Marie Asur-Galang, Mirasol Bellengan, Kent John Duga, Bien Brian Buenaobra, Marvin I De Los Santos, Daniel Medina, Jamirah Samo, Venus Minerva Literal, Sullian Sy-Nav |
| High risk of lung cancer in surfactant-related gene variant carriers. The European respiratory journal 2024 4 . Alexandre Brudon, Marie Legendre, Arthur Mageau, Julien Bermudez, Philippe Bonniaud, Diane Bouvry, Jacques Cadranel, Aurélie Cazes, Bruno Crestani, Tristan Dégot, Céline Delestrain, Rémi Diesler, Ralph Epaud, Quentin Philippot, Nathalie Theou-Anton, Caroline Kannengiesser, Ibrahima Ba, Marie-Pierre Debray, Pascale Fanen, Efrosine Manali, Spyros Papiris, Nadia Nathan, Serge Amselem, Antoine Gondouin, Anne Guillaumot, Claire Andréjak, Stephane Jouneau, Guillaume Beltramo, Yurdagul Uzunhan, François Galodé, Virginie Westeel, Anas Mehdaoui, Sandrine Hirschi, Sylvie Leroy, Sylvain Marchand-Adam, Hilario Nunes, Clément Picard, Grégoire Prevot, Martine Reynaud-Gaubert, Paul De Vuyst, Lidwine Wemeau, Gautier Defossez, Gérard Zalcman, Vincent Cottin, Raphael Borie, |
- Page last reviewed:Feb 1, 2024
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