HuGE Literature Finder
Records
1
-
30
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Thyroid function in Rett syndrome. Hormone research in pædiatrics 2015 83 (2): 118-25. Stagi Stefano, Cavalli Loredana, Congiu Laura, Scusa Maria Flora, Ferlini Alessandra, Bigoni Stefania, Benincasa Alberto, Rossi Bruno, Pini Giorg |
| Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons. Molecular psychiatry 2014 Nov . Griesi-Oliveira K, Acab A, Gupta A R, Sunaga D Y, Chailangkarn T, Nicol X, Nunez Y, Walker M F, Murdoch J D, Sanders S J, Fernandez T V, Ji W, Lifton R P, Vadasz E, Dietrich A, Pradhan D, Song H, Ming G-L, Gu X, Haddad G, Marchetto M C N, Spitzer N, Passos-Bueno M R, State M W, Muotri A |
| Recent insights into genotype-phenotype relationships in patients with Rett syndrome using a fine grain scale. Research in developmental disabilities 2014 Nov 35 (11): 2976-86. Fabio Rosa Angela, Colombo Barbara, Russo Silvia, Cogliati Francesca, Masciadri Maura, Foglia Silvia, Antonietti Alessandro, Tavian Danie |
| Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome. Journal of medical genetics 2014 Mar 51 (3): 152-8. Cuddapah Vishnu Anand, Pillai Rajesh B, Shekar Kiran V, Lane Jane B, Motil Kathleen J, Skinner Steven A, Tarquinio Daniel Charles, Glaze Daniel G, McGwin Gerald, Kaufmann Walter E, Percy Alan K, Neul Jeffrey L, Olsen Michelle |
| 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 |
| Xq28 (MECP2) microdeletions are common in mutation-negative females with Rett syndrome and cause mild subtypes of the disease. Molecular cytogenetics 2013 6 (1): 53. Iourov Ivan Y, Vorsanova Svetlana G, Voinova Victoria Y, Kurinnaia Oxana S, Zelenova Maria A, Demidova Irina A, Yurov Yuri |
| 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 |
| The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1. Autism research : official journal of the International Society for Autism Research 2012 Dec 5 (6): 385-97. Cukier Holly N, Lee Joycelyn M, Ma Deqiong, Young Juan I, Mayo Vera, Butler Brittany L, Ramsook Sandhya S, Rantus Joseph A, Abrams Alexander J, Whitehead Patrice L, Wright Harry H, Abramson Ruth K, Haines Jonathan L, Cuccaro Michael L, Pericak-Vance Margaret A, Gilbert John |
| A MECP2 missense mutation within the MBD domain in a Brazilian male with autistic disorder. Brain & development 2011 Nov 33 (10): 807-9. Campos Mário, Pestana Cristiane Pinheiro, dos Santos Adriana Vaz, Ponchel Frederique, Churchman Sarah, Abdalla-Carvalho Cláudia Bueno, dos Santos Jussara Mendonça, dos Santos Flavia Lima, Gikovate Carla Gruber, Santos-Rebouças Cíntia Barros, Pimentel Márcia Mattos Gonçalv |
| 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 |
| Investigation of modifier genes within copy number variations in Rett syndrome. Journal of human genetics 2011 Jul 56 (7): 508-15. Artuso Rosangela, Papa Filomena T, Grillo Elisa, Mucciolo Mafalda, Yasui Dag H, Dunaway Keith W, Disciglio Vittoria, Mencarelli Maria A, Pollazzon Marzia, Zappella Michele, Hayek Giuseppe, Mari Francesca, Renieri Alessandra, Lasalle Janine M, Ariani Frances |
| Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes. Brain & development 2011 Jan 33 (1): 69-76. Temudo Teresa, Santos Mónica, Ramos Elisabete, Dias Karin, Vieira José Pedro, Moreira Ana, Calado Eulália, Carrilho Inês, Oliveira Guiomar, Levy António, Barbot Clara, Fonseca Maria, Cabral Alexandra, Cabral Pedro, Monteiro José, Borges Luís, Gomes Roseli, Mira Graça, Pereira Susana Aires, Santos Manuela, Fernandes Anabela, Epplen Jorg T, Sequeiros Jorge, Maciel Patríc |
| Bone mass in Rett syndrome: association with clinical parameters and MECP2 mutations. Pediatric research 2010 Nov 68 (5): 446-51. Shapiro Jay R, Bibat Genila, Hiremath Girish, Blue Mary E, Hundalani Shilpa, Yablonski Theodore, Kantipuly Aditi, Rohde Charles, Johnston Michael, Naidu Sakkub |
| 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 |
| Identification and characterization of novel sequence variations in MECP2 gene in Rett syndrome patients. Brain & development 2010 Nov 32 (10): 843-8. Monnerat Leila Schuindt, Moreira Aline Dos Santos, Alves Maria Carolina Viana, Bonvicino Cibele Rodrigues, Vargas Fernando Reg |
| Level of purposeful hand function as a marker of clinical severity in Rett syndrome. Developmental medicine and child neurology 2010 Sep 52 (9): 817-23. Downs Jenny, Bebbington Ami, Jacoby Peter, Williams Anne-Marie, Ghosh Soumya, Kaufmann Walter E, Leonard Hel |
| 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 |
| 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 |
| APOE epsilon4: a potential modulation factor in Rett syndrome. Journal of child neurology 2010 May 25 (5): 546-50. Zahorakova Daniela, Jachymova Marie, Kemlink David, Baxova Alice, Martasek Pav |
| Linking MECP2 and pain sensitivity: the example of Rett syndrome. American journal of medical genetics. Part A 2010 May 152A (5): 1197-205. Downs Jenny, Géranton Sandrine M, Bebbington Ami, Jacoby Peter, Bahi-Buisson Nadia, Ravine David, Leonard Hel |
| [Analysis of the parental origin of MECP2 mutations in patients with Rett syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010 Apr 27 (2): 121-4. Zhang Jing-jing, Bao Xin-hua, Cao Guang-na, Jiang Sheng-ling, Zhu Xing-wang, Lu Hong-mei, Jia Li-fang, Pan Hong, Wu Xi- |
| Profiling scoliosis in Rett syndrome. Pediatric research 2010 Apr 67 (4): 435-9. Percy Alan K, Lee Hye-Seung, Neul Jeffrey L, Lane Jane B, Skinner Steven A, Geerts Suzanne P, Annese Fran, Graham Joy, McNair Lauren, Motil Kathleen J, Barrish Judy O, Glaze Daniel |
- Page last reviewed:Jul 25, 2022
- Page last updated:Aug 18, 2022
- Content source: