Human Genome Epidemiology Literature Finder
Records 1 - 12 (of 12 Records) |
Query Trace: Syndrome and FOXG1[original query] |
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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 |
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 |
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 |
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. American journal of medical genetics. Part A 2015 Sep 167 (9): 2017-25. Olson Heather E, Tambunan Dimira, LaCoursiere Christopher, Goldenberg Marti, Pinsky Rebecca, Martin Emilie, Ho Eugenia, Khwaja Omar, Kaufmann Walter E, Poduri Annapur |
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 |
Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. BMC medical genetics 2017 8 18 (1): 96. Zhang Qingping, Wang Jiaping, Li Jiarui, Bao Xinhua, Zhao Ying, Zhang Xiaoying, Wei Liping, Wu Xi |
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 |
Structural brain anomalies in patients with FOXG1 syndrome and in Foxg1+/- mice. Annals of clinical and translational neurology 2019 4 6 (4): 655-668. Pringsheim Milka, Mitter Diana, Schröder Simone, Warthemann Rita, Plümacher Kim, Kluger Gerhard, Baethmann Martina, Bast Thomas, Braun Sarah, Büttel Hans-Martin, Conover Elizabeth, Courage Carolina, Datta Alexandre N, Eger Angelika, Grebe Theresa A, Hasse-Wittmer Annette, Heruth Marion, Höft Karen, Kaindl Angela M, Karch Stephanie, Kautzky Torsten, Korenke Georg C, Kruse Bernd, Lutz Richard E, Omran Heymut, Patzer Steffi, Philippi Heike, Ramsey Keri, Rating Tina, Rieß Angelika, Schimmel Mareike, Westman Rachel, Zech Frank-Martin, Zirn Birgit, Ulmke Pauline A, Sokpor Godwin, Tuoc Tran, Leha Andreas, Staudt Martin, Brockmann Kn |
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 |
Genotype-phenotype implications from three representative clinical FOXG1 variants associated with FOXG1 syndrome. Seizure 2021 5 89 45-47. Bai Yan, Yi Aiwen, Xin Jing, Xu Jiaxin, Huang Mingw |
Expanding genotype-phenotype correlations in FOXG1 syndrome: results from a patient registry. Orphanet journal of rare diseases 2023 6 18 (1): 149. Elise Brimble, Kathryn G Reyes, Kopika Kuhathaas, Orrin Devinsky, Maura R Z Ruzhnikov, Xilma R Ortiz-Gonzalez, Ingrid Scheffer, Nadia Bahi-Buisson, Heather Olson, |
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- Page last updated:Apr 16, 2024
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