Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 103 Records) |
| Query Trace: Rett Syndrome and MECP2[original query] |
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| Genotype-phenotype relationship among Egyptian children with Rett syndrome. The Journal of the Egyptian Public Health Association 2015 Sep 90 (3): 133-7. Mansour Lobna, El Sobky Ezzat, Mohamed Solaf M, Marzouk Huda, Tarek Lamia |
| Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population. Scientific reports 2016 6 29088. Wang Yan, Peng Wei, Guo Hong-Yan, Li Hui, Tian Jie, Shi Yu-Jing, Yang Xiao, Yang Yao, Zhang Wan-Qiao, Liu Xin, Liu Guan-Nan, Deng Tao, Sun Yi-Min, Xing Wan-Li, Cheng Jing, Feng Zhi-Ch |
| Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genetics in medicine : official journal of the American College of Medical Genetics 2016 May . Sajan Samin A, Jhangiani Shalini N, Muzny Donna M, Gibbs Richard A, Lupski James R, Glaze Daniel G, Kaufmann Walter E, Skinner Steven A, Annese Fran, Friez Michael J, Lane Jane, Percy Alan K, Neul Jeffrey |
| The Incidence and Evolution of Parkinsonian Rigidity in Rett Syndrome: A Pilot Study. The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2016 Apr 1-7. Humphreys Peter, Barrowman Ni |
| MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning. Journal of human genetics 2016 Mar . Zahorakova Daniela, Lelkova Petra, Gregor Vladimir, Magner Martin, Zeman Jiri, Martasek Pav |
| 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 |
| Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort. Genetics in medicine : official journal of the American College of Medical Genetics 2018 11 21 (6): 1330-1338. Zhang Qingping, Yang Xiaoxu, Wang Jiaping, Li Jiarui, Wu Qixi, Wen Yongxin, Zhao Ying, Zhang Xiaoying, Yao He, Wu Xiru, Yu Shujie, Wei Liping, Bao Xinh |
| Clinical and genetic Rett syndrome variants are defined by stable electrophysiological profiles. BMC pediatrics 2018 10 18 (1): 333. Keogh Conor, Pini Giorgio, Dyer Adam H, Bigoni Stefania, DiMarco Pietro, Gemo Ilaria, Reilly Richard, Tropea Danie |
| 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, |
| Surface- and voxel-based brain morphologic study in Rett and Rett-like syndrome with MECP2 mutation. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2019 1 73 83-88. Shiohama Tadashi, Levman Jacob, Takahashi E |
| 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 |
| [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 |
| 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 |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 04, 2023
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