Human Genome Epidemiology Literature Finder
|
Records 1 - 30 (of 50 Records) |
| Query Trace: Disease and MECP2[original query] |
|---|
| [Mutational analysis of the methyl-CpG-binding protein 2 (MECP2) gene in male autism patients]. Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2013 Apr 45 (2): 197-201. Wang San-mei, Li Ming, Yang Yan-ling, Pan Hong, Liu Jing, Pan Kai-feng, Bu Ding-fa |
| Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Molecular cytogenetics 2013 6 (1): 53. Iourov Ivan Y, Vorsanova Svetlana G, Voinova Victoria Y, Kurinnaia Oxana S, Zelenova Maria A, Demidova Irina A, Yurov Yuri |
| Analysis of two autoimmunity genes, IRAK1 and MECP2, in giant cell arteritis. Clinical and experimental rheumatology 0 32 (3 Suppl 82): S30-3. Márquez Ana, Solans Roser, Hernández-Rodríguez José, Cid María C, Castañeda Santos, Ramentol Marc, Morado Inmaculada C, Rodriguez-Rodriguez Luis, Narváez Javier, Gómez-Vaquero Carmen, Miranda-Filloy José A, Martínez-Taboada Víctor M, Ríos Raquel, Sopeña Bernardo, Monfort Jordi, García-Villanueva María Jesús, Martínez-Zapico Aleida, Marí-Alfonso Begoña, Sánchez-Martín Julio, Unzurrunzaga Ainhoa, Raya Enrique, de Miguel Eugenio, Hidalgo-Conde Ana, Blanco Ricardo, González-Gay Miguel Ángel, Martín Javier, |
| Variants in IRAK1-MECP2 region confer susceptibility to autoimmune thyroid diseases. Molecular and cellular endocrinology 2015 Jan 399 244-9. Song Rong-hua, Qin Qiu, Yan Ni, Muhali Fatuma-said, Meng Shuai, He Shuang-tao, Zhang Jin- |
| Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. Journal of medical genetics 2014 Mar 51 (3): 152-8. Cuddapah Vishnu Anand, Pillai Rajesh B, Shekar Kiran V, Lane Jane B, Motil Kathleen J, Skinner Steven A, Tarquinio Daniel Charles, Glaze Daniel G, McGwin Gerald, Kaufmann Walter E, Percy Alan K, Neul Jeffrey L, Olsen Michelle |
| Mitigating false-positive associations in rare disease gene discovery. Human mutation 2015 Oct 36 (10): 998-1003. Akle Sebastian, Chun Sung, Jordan Daniel M, Cassa Christopher |
| Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han. Genetics and molecular research : GMR 2015 14 (4): 17567-73. Dong H R, Li H S, Wang S C, Balin Q M, Chang P |
| Association Study of MECP2 Gene Single Nucleotide Polymorphisms in Juvenile-Onset Systemic Lupus Erythematosus Patients from Iran. Fetal and pediatric pathology 2017 Dec 36 (6): 423-431. Mahmoudi Mahdi, Aslani Saeed, Hamzeh Elham, Ziaee Vahid, Poursani Shiva, Nicknam Mohammad Hossein, Rezaei Ni |
| Novel and de novo mutations in pediatric refractory epilepsy. Molecular brain 2018 9 11 (1): 48. Liu Jing, Tong Lili, Song Shuangshuang, Niu Yue, Li Jun, Wu Xiu, Zhang Jie, Zai Clement C, Luo Fang, Wu Jian, Li Haiyin, Wong Albert H C, Sun Ruopeng, Liu Fang, Li Baom |
| Clinical and molecular evaluation of 16 patients with Rett syndrome. The Turkish journal of pediatrics 2018 8 60 (1): 1-9. Zengin-Akku? P?nar, Ta?k?ran Ekim Z, Kabaçam Serkan, ?im?ek-Kiper Pelin Özlem, Halilo?lu Göknur, Boduro?lu Koray, Utine Gülen E |
| Meta-analysis of GWAS on both Chinese and European populations identifies GPR173 as a novel X chromosome susceptibility gene for SLE. Arthritis research & therapy 2018 05 20 (1): 92. Zhang Huoru, Zhang Yan, Wang Yong-Fei, Morris David, Hirankarn Nattiya, Sheng Yujun, Shen Jiangshan, Pan Hai-Feng, Yang Jing, Yang Sen, Cui Yong, Ye Dong-Qing, Vyse Timothy J, Zhang Xuejun, Lau Yu Lung, Yang Wanli |
| X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients. Scientific reports 2019 8 9 (1): 11983. Xiol Clara, Vidal Silvia, Pascual-Alonso Ainhoa, Blasco Laura, Brandi Núria, Pacheco Paola, Gerotina Edgar, O'Callaghan Mar, Pineda Mercè, Armstrong Judith, |
| Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene. BMC medical genetics 2019 5 20 (1): 80. Yan Huifang, Shi Zhen, Wu Ye, Xiao Jiangxi, Gu Qiang, Yang Yanling, Li Ming, Gao Kai, Chen Yinyin, Yang Xiaoping, Ji Haoran, Cao Binbin, Duan Ruoyu, Jiang Yuwu, Wang Jingm |
| [Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 4 36 (4): 340-343. Jiang Chen, Pan Nan, Lyu Weigang, Peng Ying, Liu Jing, Guo Ruolan, Chang Jiazhen, Liang Desheng, Wu Lingqi |
| SET domain containing 1B gene is mutated in primary hepatic neuroendocrine tumors. International journal of cancer 2019 4 145 (11): 2986-2995. Yang Penghui, Huang Xuanlin, Lai Chengcai, Li Lin, Li Tieling, Huang Peide, Ouyang Songying, Yan Jin, Cheng Sijie, Lei Guanglin, Wang Zhaohai, Yu Linxiang, Hong Zhixian, Li Ruisheng, Dong Hui, Wang Cheng, Yu Yinghao, Wang Xuan, Li Xianghong, Wang Liming, Lv Fudong, Yin Ye, Yang Huanming, Song Jianxun, Gao Qiang, Wang Xiliang, Zhang Shaoge |
| Exome sequencing identifies molecular diagnosis in children with drug-resistant epilepsy. Epilepsia open 2019 3 4 (1): 63-72. Tsang Mandy Ho-Yin, Leung Gordon Ka-Chun, Ho Alvin Chi-Chung, Yeung Kit-San, Mak Christopher Chun-Yu, Pei Steven Lim-Cho, Yu Mullin Ho-Chung, Kan Anita Sik-Yau, Chan Kelvin Yuen-Kwong, Kwong Karen Ling, Lee So-Lun, Yung Ada Wing-Yan, Fung Cheuk-Wing, Chung Brian Hon-Y |
| Whole Exome Sequencing of Ulcerative Colitis-associated Colorectal Cancer Based on Novel Somatic Mutations Identified in Chinese Patients. Inflammatory bowel diseases 2019 2 25 (8): 1293-1301. Yan Pengguang, Wang Yanan, Meng Xiangchen, Yang Hong, Liu Zhanju, Qian Jiaming, Zhou Weixun, Li Jingn |
| Systemic lupus erythematosus: genetic variants in Xq28 region. Reumatologia 2019 57 (5): 264-270. Doudar Noha A, Abdelshafy Sanaa S, Rady Shaimaa A K, Mokhtar Asmaa |
| First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery. European journal of human genetics : EJHG 2020 Mar . Hengel Holger, Buchert Rebecca, Sturm Marc, Haack Tobias B, Schelling Yvonne, Mahajnah Muhammad, Sharkia Rajech, Azem Abdussalam, Balousha Ghassan, Ghanem Zaid, Falana Mohammed, Balousha Osama, Ayesh Suhail, Keimer Reinhard, Deigendesch Werner, Zaidan Jimmy, Marzouqa Hiyam, Bauer Peter, Schöls Ludg |
| The Role of MECP2 and CCR5 Polymorphisms on the Development and Course of Systemic Lupus Erythematosus. Biomolecules 2020 Mar 10 (3): . Rzeszotarska Ewa, Sowinska Anna, Stypinska Barbara, Walczuk Ewa, Wajda Anna, Lutkowska Anna, Felis-Giemza Anna, Olesinska Marzena, Puszczewicz Mariusz, Majewski Dominik, Jagodzinski Pawel Piotr, Czerewaty Michal, Malinowski Damian, Pawlik Andrzej, Jaronczyk Malgorzata, Paradowska-Gorycka Agniesz |
| Rett Syndrome, a Neurodevelopmental Disorder, Whole-Transcriptome, and Mitochondrial Genome Multiomics Analyses Identify Novel Variations and Disease Pathways. Omics : a journal of integrative biology 2020 2 24 (3): 160-171. Aldosary Mazhor, Al-Bakheet AlBandary, Al-Dhalaan Hesham, Almass Rawan, Alsagob Maysoon, Al-Younes Banan, AlQuait Laila, Mustafa Osama Mufid, Bulbul Mustafa, Rahbeeni Zuhair, Alfadhel Majid, Chedrawi Aziza, Al-Hassnan Zuhair, AlDosari Mohammed, Al-Zaidan Hamad, Al-Muhaizea Mohammad A, AlSayed Moeenaldeen D, Salih Mustafa A, AlShammari Mai, Faiyaz-Ul-Haque Muhammad, Chishti Mohammad Azhar, Al-Harazi Olfat, Al-Odaib Ali, Kaya Namik, Colak Dil |
| Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort. Journal of medical genetics 2020 Jan . Dong Xinran, Liu Bo, Yang Lin, Wang Huijun, Wu Bingbing, Liu Renchao, Chen Hongbo, Chen Xiang, Yu Sha, Chen Bin, Wang Sujuan, Xu Xiu, Zhou Wenhao, Lu Yul |
| Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with bone disease severity in Rett syndrome. BMC medical genetics 2020 2 21 (1): 21. Caffarelli Carla, Gonnelli Stefano, Pitinca Maria Dea Tomai, Camarri Silvia, Al Refaie Antonella, Hayek Joussef, Nuti Ranucc |
| Dietary intake and growth deficits in Rett syndrome-A cross-section study. Autism research : official journal of the International Society for Autism Research 2021 3 14 (7): 1512-1521. Wong Lee Chin, Chen Yen-Tsz, Tsai Shu-Mei, Lin Yen-Ju, Hsu Chia-Jui, Wang Hsin-Pei, Hu Su-Ching, Shen Hsiu-Yu, Tsai Wen-Che, Lee Wang-T |
| Variable predicted pathogenic mechanisms for novel MECP2 variants in RTT patients. Journal, genetic engineering & biotechnology 2022 3 20 (1): 44. Sharaf-Eldin Wessam E, Issa Mahmoud Y, Zaki Maha S, Kilany Ayman, Fayez Alaaeldin |
| Whole Exome Sequencing in Multi-Incident Families Identifies Novel Candidate Genes for Multiple Sclerosis. International journal of molecular sciences 2022 10 23 (19): . Horjus Julia, van Mourik-Banda Tineke, Heerings Marco A P, Hakobjan Marina, De Witte Ward, Heersema Dorothea J, Jansen Anne J, Strijbis Eva M M, de Jong Brigit A, Slettenaar Astrid E J, Zeinstra Esther M P E, Hoogervorst Erwin L J, Franke Barbara, Kruijer Wiebe, Jongen Peter J, Visser Leo J, Poelmans Gee |
| Analysis of the Pathogenic Variants of Genes Using a Gene Panel in Turkish Epilepsy Patients. Clinical laboratory 2022 Jun 68 (6): . Gun-Bilgic Dilek, Polat Muzaff |
| Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2024 7 . Hamide Betul Gerik-Celebi, ?pek Dokurel Çetin, Hilmi Bolat, Gul Unsel-Bol |
| [Preimplantation genetic testing for a Chinese pedigree affected with Rett syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (5): 526-532. Siqi Duan, Fagui Yue, Xiao Yang, Ruizhi Liu, Jing |
| Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications. Frontiers in genetics 2024 1 14 1300952. Magdalena Krygier, Marta Pietruszka, Marta Zawadzka, Agnieszka Sawicka, Anna Lemska, Monika Limanówka, Jan ?urek, Weronika Tala?ka-Liczbik, Maria Mazurkiewicz-Be?dzi?s |
- Page last reviewed:Feb 1, 2024
- Content source: