Human Genome Epidemiology Literature Finder
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Records 1 - 27 (of 27 Records) |
| Query Trace: Syndrome and CDKL5[original query] |
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| CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients. Journal of medical genetics 2006 Sep 43 (9): 729-34. Archer H L, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne |
| MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. Journal of human genetics 2007 52 (1): 38-47. Li Mei-Rong, Pan Hong, Bao Xin-Hua, Zhang Yu-Zhi, Wu Xi- |
| Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia 2010 Apr 51 (4): 647-54. Mei Davide, Marini Carla, Novara Francesca, Bernardina Bernardo D, Granata Tiziana, Fontana Elena, Parrini Elena, Ferrari Anna R, Murgia Alessandra, Zuffardi Orsetta, Guerrini Ren |
| 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 |
| Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls. Human mutation 2009 Jun . Makrythanasis P, Kapranov P, Bartoloni L, Reymond A, Deutsch S, Guigó R, Denoeud F, Drenkow J, Rossier C, Ariani F, Capra V, Excoffier L, Renieri A, Gingeras TR, Antonarakis SE |
| [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. Zhonghua yi xue za zhi 2009 Feb 89 (4): 224-9. Li Mei-rong, Pan Hong, Bao Xin-hua, Zhu Xing-wang, Cao Guang-na, Zhang Yu-zhi, Wu Xi- |
| Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics 2009 Jul 10 (3): 241-50. Russo S, Marchi M, Cogliati F, Bonati M T, Pintaudi M, Veneselli E, Saletti V, Balestrini M, Ben-Zeev B, Larizza |
| Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant. Neurogenetics 2010 May 11 (2): 241-9. Bahi-Buisson Nadia, Nectoux Juliette, Girard Benoit, Van Esch Hilde, De Ravel Thomy, Boddaert Nathalie, Plouin Perrine, Rio Marlene, Fichou Yann, Chelly Jamel, Bienvenu Thier |
| Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical genetics 2009 Oct 76 (4): 357-71. Nemos C, Lambert L, Giuliano F, Doray B, Roubertie A, Goldenberg A, Delobel B, Layet V, N'guyen M A, Saunier A, Verneau F, Jonveaux P, Philippe |
| 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 |
| Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Human mutation 2010 Jun 31 (6): 722-33. Zweier Markus, Gregor Anne, Zweier Christiane, Engels Hartmut, Sticht Heinrich, Wohlleber Eva, Bijlsma Emilia K, Holder Susan E, Zenker Martin, Rossier Eva, Grasshoff Ute, Johnson Diana S, Robertson Lisa, Firth Helen V, , Ekici Arif B, Reis André, Rauch Ani |
| Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis. Journal of child neurology 2011 1 26 (1): 65-71. Rajaei Saideh, Erlandson Anna, Kyllerman Marten, Albage Margareta, Lundstrom Isa, Karrstedt Ewa-Lotta, Hagberg Ben |
| STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. Epilepsia 2011 1 51 (12): 2449-52. Otsuka Motoko, Oguni Hirokazu, Liang Jao-Shwann, Ikeda Hiroko, Imai Katsumi, Hirasawa Kyoko, Imai Kaoru, Tachikawa Emiko, Shimojima Keiko, Osawa Makiko, Yamamoto Toshiyu |
| Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations. Gene 2012 Dec . Das DK, Raha S, Sanghavi D, Maitra A, Udani V |
| Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. Clinical genetics 2015 Jul . Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Edery P, Heron D, des Portes V, Sanlaville D, Lesca |
| Thyroid function in Rett syndrome. Hormone research in paediatrics 2015 83 (2): 118-25. Stagi Stefano, Cavalli Loredana, Congiu Laura, Scusa Maria Flora, Ferlini Alessandra, Bigoni Stefania, Benincasa Alberto, Rossi Bruno, Pini Giorg |
| 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 |
| Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy. Folia biologica 2016 62 (2): 67-74. Záhoráková D, Langová M, Brožová K, Lašt?vková J, Kalina Z, Rennerová L, Martásek |
| 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 |
| Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet journal of rare diseases 2016 11 (1): 39. Mangatt Meghana, Wong Kingsley, Anderson Barbara, Epstein Amy, Hodgetts Stuart, Leonard Helen, Downs Jen |
| Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy. Seizure 2018 6 59 132-140. Kothur Kavitha, Holman Katherine, Farnsworth Elizabeth, Ho Gladys, Lorentzos Michelle, Troedson Christopher, Gupta Sachin, Webster Richard, Procopis Peter G, Menezes Manoj P, Antony Jayne, Ardern-Holmes Simone, Dale Russell C, Christodoulou John, Gill Deepak, Bennetts Bru |
| 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 |
| 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 |
| 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 |
| Sodium channel blockers for the treatment of epilepsy in CDKL5 deficiency disorder: Findings from a multicenter cohort. Epilepsy & behavior : E&B 2021 May 118 107946. Aledo-Serrano Ángel, Gómez-Iglesias Patricia, Toledano Rafael, Garcia-Peñas Juan Jose, Garcia-Morales Irene, Anciones Carla, Soto-Insuga Victor, Benke Timothy A, Del Pino Isabel, Gil-Nagel Anton |
| Detecting Low-Variant Allele Frequency Mosaic Pathogenic Variants of NF1, TSC2, and AKT3 Genes from Blood in Patients with Neurodevelopmental Disorders. The Journal of molecular diagnostics : JMD 2023 4 . Se Hee Kim, Soon Sung Kwon, Mi Ri Park, Hyeon Ah Lee, Ji Hun Kim, JiHoon Cha, Sangwoo Kim, Seung Tae Baek, Se Hoon Kim, Joon Soo Lee, Heung Dong Kim, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Ka |
| 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 |
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