Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 167 Records) |
| Query Trace: MECP2[original query] |
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| 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 |
| Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Journal of autism and developmental disorders 2021 Nov . Du Xiaoli, Glass Jennifer Elaine, Balow Stephanie, Dyer Lisa M, Rathbun Pamela A, Guan Qiaoning, Liu Jie, Wu Yaning, Dawson D Brian, Walters-Sen Lauren, Smolarek Teresa A, Zhang Wenyi |
| 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 |
| Association of CaMK2A and MeCP2 signaling pathways with cognitive ability in adolescents. Molecular brain 2021 Oct 14 (1): 152. Lee Li-Ching, Su Ming-Tsan, Huang Hsing-Ying, Cho Ying-Chun, Yeh Ting-Kuang, Chang Chun-Y |
| Prognostic Impact of Genetic Variants of MECP2 and TIRAP on Clinical Outcomes of Systemic Lupus Erythematosus with and without Nephritis. Biomolecules 2021 Sep 11 (9): . Tayel Safaa I, Muharram Nashwa M, Fotoh Dina S, Elbarbary Hany S, Abd-Elhafiz Huda I, El-Masry Eman A, Taha Ahmed E, Soliman Shimaa |
| 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 |
| MECP2 Dysautonomia Phenotypes in Boys. Pediatric neurology 2022 7 134 31-36. Courgeon Lisa, Uguen Kévin, Lefranc Jérémie, Lesca Gaetan, Ropars Juliet |
| Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2022 Jun . Grasso Chiara, Popovic Maja, Isaevska Elena, Lazzarato Fulvio, Fiano Valentina, Zugna Daniela, Pluta John, Weathers Benita, D'Andrea Kurt, Almstrup Kristian, Anson-Cartwright Lynn, Bishop D Timothy, Chanock Stephen J, Chen Chu, Cortessis Victoria K, Dalgaard Marlene D, Daneshmand Siamak, Ferlin Alberto, Foresta Carlo, Frone Megan N, Gamulin Marija, Gietema Jourik A, Greene Mark H, Grotmol Tom, Hamilton Robert J, Haugen Trine B, Hauser Russ, Karlsson Robert, Kiemeney Lambertus A, Lessel Davor, Lista Patrizia, Lothe Ragnhild A, Loveday Chey, Meijer Coby, Nead Kevin T, Nsengimana Jérémie, Skotheim Rolf I, Turnbull Clare, Vaughn David J, Wiklund Fredrik, Zheng Tongzhang, Zitella Andrea, Schwartz Stephen M, McGlynn Katherine A, Kanetsky Peter A, Nathanson Katherine L, Richiardi Loren |
| Developing a novel DNA methylation risk score for survival and identification of prognostic gene mutations in endometrial cancer: a study based on TCGA data. Japanese journal of clinical oncology 2022 5 52 (9): 992-1000. Shen Po-Chien, Wang Ying-Fu, Chang Hao-Chih, Huang Wen-Yen, Lo Cheng-Hsiang, Su Yu-Fu, Yang Jen-Fu, Lin Chun-Shu, Dai Yang-Ho |
| 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 |
| Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders. Proceedings of the National Academy of Sciences of the United States of America 2022 11 119 (46): e2203491119. Wang Tianyun, Kim Chang N, Bakken Trygve E, Gillentine Madelyn A, Henning Barbara, Mao Yafei, Gilissen Christian, , Nowakowski Tomasz J, Eichler Evan |
| 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 |
| 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 |
| 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 |
| Ancestry-dependent genetic structure of the Xq28 risk haplotype in the Mexican population and its association with childhood-onset systemic lupus erythematosus. Frontiers in medicine 2023 1 9 1044856. García-Ortiz Humberto, Barajas-Olmos Francisco, Flores-Huacuja Marlen, Morales-Rivera Monserrat I, Martínez-Hernández Angélica, Baca Vicente, Contreras-Cubas Cecilia, Orozco Lore |
| 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 |
| Chromosome X-Wide Common Variant Association Study (XWAS) in Autism Spectrum Disorder. medRxiv : the preprint server for health sciences 2024 8 . Marla Mendes, Desmond Zeya Chen, Worrawat Engchuan, Thiago Peixoto Leal, Bhooma Thiruvahindrapuram, Brett Trost, Jennifer L Howe, Giovanna Pellecchia, Thomas Nalpathamkalam, Roumiana Alexandrova, Nelson Bautista Salazar, Ethan Alexander McKee, Natalia Rivera Alfaro, Meng-Chuan Lai, Sara Bandres-Ciga, Delnaz Roshandel, Clarrisa A Bradley, Evdokia Anagnostou, Lei Sun, Stephen W Scher |
| 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 |
| 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 |
| 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 |
| 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
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