Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Seizures and MECP2[original query] |
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| Dimensional phenotypic analysis and functional categorisation of mutations reveal novel genotype-phenotype associations in Rett syndrome. European journal of human genetics : EJHG 2005 Oct 13 (10): 1121-30. Charman Tony, Neilson Tracey C S, Mash Veronica, Archer Hayley, Gardiner Mary T, Knudsen Gun P S, McDonnell Aoibhinn, Perry Jacqueline, Whatley Sharon D, Bunyan David J, Ravn Kirstine, Mount Rebecca H, Hastings Richard P, Hulten Maj, Orstavik Karen Helene, Reilly Sheena, Cass Hilary, Clarke Angus, Kerr Alison M, Bailey Mark E |
| The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome. Neurology 2008 May 70 (22 Pt 2): 2145-51. Nectoux J, Bahi-Buisson N, Guellec I, Coste J, De Roux N, Rosas H, Tardieu M, Chelly J, Bienvenu |
| Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy. European journal of human genetics : EJHG 2009 Apr 17 (4): 444-53. Lugtenberg Dorien, Kleefstra Tjitske, Oudakker Astrid R, Nillesen Willy M, Yntema Helger G, Tzschach Andreas, Raynaud Martine, Rating Dietz, Journel Hubert, Chelly Jamel, Goizet Cyril, Lacombe Didier, Pedespan Jean-Michel, Echenne Bernard, Tariverdian Gholamali, O'Rourke Declan, King Mary D, Green Andrew, van Kogelenberg Margriet, Van Esch Hilde, Gecz Jozef, Hamel Ben C J, van Bokhoven Hans, de Brouwer Arjan P |
| Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. Journal of medical genetics 2010 Mar 47 (3): 211-6. Hynes Kim, Tarpey Patrick, Dibbens Leanne M, Bayly Marta A, Berkovic Samuel F, Smith Raffaella, Raisi Zahyia Al, Turner Samantha J, Brown Natasha J, Desai Tarishi D, Haan Eric, Turner Gillian, Christodoulou John, Leonard Helen, Gill Deepak, Stratton Michael R, Gecz Jozef, Scheffer Ingrid |
| Epilepsy in Rett syndrome: clinical and genetic features. Epilepsy & behavior : E&B 2010 Nov 19 (3): 296-300. Pintaudi Maria, Calevo Maria Grazia, Vignoli Aglaia, Parodi Elena, Aiello Francesca, Baglietto Maria Giuseppina, Hayek Yussef, Buoni Sabrina, Renieri Alessandra, Russo Silvia, Cogliati Francesca, Giordano Lucio, Canevini Mariapaola, Veneselli Edvi |
| Epilepsy in Rett syndrome---the experience of a National Rett Center. Epilepsia 2010 Jul 51 (7): 1252-8. Nissenkorn Andreea, Gak Eva, Vecsler Manuela, Reznik Haia, Menascu Shay, Ben Zeev Brur |
| Epilepsy in Rett syndrome: association between phenotype and genotype, and implications for practice. Seizure 2011 Oct 20 (8): 646-9. Cardoza Basil, Clarke Angus, Wilcox Jodie, Gibbon Frances, Smith Phil E M, Archer Hayley, Hryniewiecka-Jaworska Anna, Kerr Mi |
| Using a large international sample to investigate epilepsy in Rett syndrome. Developmental medicine and child neurology 2013 Jun 55 (6): 553-8. Bao Xinhua, Downs Jenny, Wong Kingsley, Williams Simon, Leonard Hel |
| Epilepsy in Rett syndrome--lessons from the Rett networked database. Epilepsia 2015 Apr 56 (4): 569-76. Nissenkorn Andreea, Levy-Drummer Rachel S, Bondi Ori, Renieri Alessandra, Villard Laurent, Mari Francesca, Mencarelli Maria A, Lo Rizzo Caterina, Meloni Ilaria, Pineda Mercedes, Armstrong Judith, Clarke Angus, Bahi-Buisson Nadia, Mejaski Bosnjak Vlatka, Djuric Milena, Craiu Dana, Djukic Alexsandra, Pini Giorgio, Bisgaard Anne Marie, Melegh Bela, Vignoli Aglaia, Russo Silvia, Anghelescu Cristina, Veneselli Edvige, Hayek Joussef, Ben-Zeev Brur |
| 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 |
| 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 |
| Copy number variation analysis in 83 children with early-onset developmental and epileptic encephalopathy after targeted resequencing of a 109-epilepsy gene panel. Journal of human genetics 2019 Aug . Hirabayashi Kyoko, Uehara Daniela Tiaki, Abe Hidetoshi, Ishii Atsushi, Moriyama Keiji, Hirose Shinichi, Inazawa Joh |
| A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study. Journal of personalized medicine 2020 12 10 (4): . Hong Syuan-Yu, Yang Jiann-Jou, Li Shuan-Yow, Lee Inn-C |
| 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 |
| 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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