Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 115 Records) |
| Query Trace: Syndrome and MECP2[original query] |
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| Variant Profile of MECP2 Gene in Sri Lankan Patients with Rett Syndrome. Journal of autism and developmental disorders 2019 9 50 (1): 118-126. Hettiarachchi D, Neththikumara N F, Pathirana B A P S, Dissanayake V H |
| 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, |
| The Clinical and Genetic Features of Co-occurring Epilepsy and Autism Spectrum Disorder in Chinese Children. Frontiers in neurology 2019 10 505. Long Shasha, Zhou Hao, Li Shuang, Wang Tianqi, Ma Yu, Li Chunpei, Zhou Yuanfeng, Zhou Shuizhen, Wu Bingbing, Wang |
| [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 |
| Associations Among Diurnal Salivary Cortisol Patterns, Medication Use, and Behavioral Phenotype Features in a Community Sample of Rett Syndrome. American journal on intellectual and developmental disabilities 2020 9 125 (5): 353-368. Byiers Breanne J, Payen Ameante, Feyma Timothy, Panoskaltsis-Mortari Angela, Ehrhardt Michael J, Symons Frank |
| [Genetic analysis of a pedigree with MECP duplication syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 9 37 (10): 1146-1149. Liu Jing, Xi Hui, Peng Ying, Pang Jialun, Hu Jiancheng, Ma Na, Jia Zhengjun, Wang H |
| [Analysis of MECP2 gene variants in three pedigrees affected with Rett syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 8 37 (9): 968-971. Niu Yuping, Chen Xiaowei, Li Jie, Huang Sexin, Xu Peiwen, Gao Yu |
| MECP2 mutation spectrum and its clinical characteristics in a Chinese cohort. Clinical genetics 2020 5 98 (3): 240-250. Wen Yongxin, Wang Jiaping, Zhang Qingping, Chen Yan, Wu Xiru, Bao Xinh |
| Detection of Rare Methyl-CpG Binding Protein 2 Gene Missense Mutations in Patients With Schizophrenia. Frontiers in genetics 2020 5 11 476. Chen Chia-Hsiang, Cheng Min-Chih, Huang Ailing, Hu Tsung-Ming, Ping Lieh-Yung, Chang Yu-Syu |
| Three intellectual disability-associated de novo mutations in MECP2 identified by trio-WES analysis. BMC medical genetics 2020 5 21 (1): 99. Gu Yi, Xiang Bingwu, Zhu Lina, Ma Xiuwei, Chen Xiang, Cai T |
| 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 |
| 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 |
| Oral parafunction and bruxism in Rett syndrome and associated factors: An observational study. Oral diseases 2021 May . Lai Yvonne Yee Lok, Downs Jenny Anne, Wong Kingsley, Zafar Sobia, Walsh Laurence James, Leonard Helen Margar |
| 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 |
| Mitochondrial DNA Copy Number in Rett Syndrome Caused by Methyl-CpG-Binding Protein-2 Variants. The Journal of pediatrics 2021 10 241 154-161. Liu Siwen, Pei Pei, Li Lin, Wu Hairong, Zheng Xuefei, Wang Songtao, Xiao Yang, Pan Hong, Bao Xinhua, Qi Yu, Ma Yin |
| Genetic diagnoses in pediatric patients with epilepsy and comorbid intellectual disability. Epilepsy research 2021 1 170 106552. Yang Mei, Xu Bocheng, Wang Jiamin, Zhang Zhu, Xie Hanbing, Wang He, Hu Ting, Liu Shanli |
| Vagus nerve stimulation in children with drug-resistant epilepsy of monogenic etiology. Frontiers in neurology 2022 9 13 951850. Xie Han, Ma Jiayi, Ji Taoyun, Liu Qingzhu, Cai Lixin, Wu |
| Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome. American journal of medical genetics. Part A 2022 8 188 (10): 2988-2998. Cooley Coleman Jessica A, Fee Timothy, Bend Renee, Louie Raymond, Annese Fran, Stallworth Jennifer, Worthington Jessica, Buchanan Caroline Black, Everman David B, Skinner Steven, Friez Michael J, Jones Julie R, Spellicy Catherine |
| Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis. Molecular cytogenetics 2022 3 15 (1): 8. Vorsanova Svetlana G, Demidova Irina A, Kolotii Alexey D, Kurinnaia Oksana S, Kravets Victor S, Soloviev Ilya V, Yurov Yuri B, Iourov Ivan |
| Mirtazapine treatment in a young female mouse model of Rett syndrome identifies time windows for the rescue of early phenotypes. Experimental neurology 2022 3 353 114056. Flores Gutiérrez Javier, Natali Giulia, Giorgi Jacopo, De Leonibus Elvira, Tongiorgi Enri |
| 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 |
| Sleep Respiratory Disturbances in Girls with Rett Syndrome. International journal of environmental research and public health 2022 10 19 (20): . Zhang Xinyan, Smits Marcel, Curfs Leopold, Spruyt Kar |
| Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test. BMC neurology 2023 8 23 (1): 292. Frenny Sheth, Jhanvi Shah, Deepika Jain, Siddharth Shah, Harshkumar Patel, Ketan Patel, Dhaval I Solanki, Anand S Iyer, Bhargavi Menghani, Priti Mhatre, Sanjiv Mehta, Shruti Bajaj, Vishal Patel, Manoj Pandya, Deepak Dhami, Darshan Patel, Jayesh Sheth, Harsh She |
| Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders. Cells 2023 7 12 (10): . Eric Frankel, Avijit Podder, Megan Sharifi, Roshan Pillai, Newell Belnap, Keri Ramsey, Julius Dodson, Pooja Venugopal, Molly Brzezinski, Lorida Llaci, Brittany Gerald, Gabrielle Mills, Meredith Sanchez-Castillo, Chris D Balak, Szabolcs Szelinger, Wayne M Jepsen, Ashley L Siniard, Ryan Richholt, Marcus Naymik, Isabelle Schrauwen, David W Craig, Ignazio S Piras, Matthew J Huentelman, Nicholas J Schork, Vinodh Narayanan, Sampathkumar Rangasa |
| [Diagnostic value of whole exome sequencing for patients with intellectual disability or global developmental delay]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 5 40 (6): 648-654. Yangyan Li, Dongzhu Lei, Caiyun Li, Dongqun Huang, Jufang Tan, Haoqing Zha |
| Effect of Positive Allosteric Modulation and Orthosteric Agonism of Dopamine D2-like Receptors on Respiration in Mouse Models of Rett Syndrome. Respiratory physiology & neurobiology 2024 8 104314. Sebastian N Maletz, Brandon T Reid, David M Baekey, Jessica R Whitaker-Fornek, Jordan T Bateman, Keiko Arakawa, John M Bissonnette, Erica S Levi |
| Evaluation of seizure semiology, genetics, magnetic resonance imaging, and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study. Epilepsy research 2024 7 205 107399. Nihal Y?ld?z, Esra Serdaro?lu, P?nar Özkan Kart, Seyda Besen, Seda Kanmaz, Dilara Ece Toprak, Betul Kilic, Ozlem Ersoy, P?nar Gencpinar, Nihal Olgac Dundar, Cetin Okuyaz, Ayse Serdaroglu, Kursat Bora Carman, Co?kun Yarar, Bar?? Ekici, Burak Tatl?, ?lknur Erol, Kür?ad Ayd?n, Hasan Tekgül, Ali Can |
| The Genetic Etiology is a Relevant Cause of Central Precocious Puberty. European journal of endocrinology 2024 6 . Ana Pinheiro Machado Canton, Carlos Eduardo Seraphim, Luciana Ribeiro Montenegro, Ana Cristina Victorino Krepischi, Berenice Bilharinho Mendonca, Ana Claudia Latronico, Vinicius Nahime Bri |
| [Clinical and molecular genetic analysis of a child with comorbid 16p11.2 microdeletion syndrome and Rett syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 4 41 (5): 612-616. Pengwu Lin, Xuan Feng, Shengju Hao, Chunyang Jia, Hairui Pan, Chuan Zhang, Ling Hui, Qinghua Zha |
| [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 |
- Page last reviewed:Feb 1, 2024
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