Human Genome Epidemiology Literature Finder
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Records 1 - 23 (of 23 Records) |
| Query Trace: Mental Retardation and MECP2[original query] |
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| Low frequency of MECP2 mutations in mentally retarded males. European journal of human genetics : EJHG 2002 Aug 10 (8): 487-90. Yntema Helger G, Kleefstra Tjitske, Oudakker Astrid R, Romein Tom, de Vries Bert B A, Nillesen Willy, Sistermans Erik A, Brunner Han G, Hamel Ben C J, van Bokhoven Ha |
| MECP2 mutations or polymorphisms in mentally retarded boys: diagnostic implications. Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology 2003 7 (1): 3-7. Bourdon Violaine, Philippe Christophe, Martin Dominique, Verloès Alain, Grandemenge Agnès, Jonveaux Philip |
| MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics. European journal of human genetics : EJHG 2004 Jan 12 (1): 24-8. Kleefstra Tjitske, Yntema Helger G, Nillesen Willy M, Oudakker Astrid R, Mullaart Reinier A, Geerdink Niels, van Bokhoven Hans, de Vries Bert B A, Sistermans Erik A, Hamel Ben C |
| Absence of MeCP2 mutations in patients from the South Carolina autism project. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2003 Feb 117B (1): 97-101. Lobo-Menendez Fe, Sossey-Alaoui Khalid, Bell Jennifer M, Copeland-Yates Susan A, Plank Sara M, Sanford Stewart O, Skinner Cindy, Simensen Richard J, Schroer Richard J, Michaelis Ron |
| MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2004 Jul 128B (1): 50-3. Shibayama Akane, Cook Edwin H, Feng Jinong, Glanzmann Cecile, Yan Jin, Craddock Nick, Jones Ian R, Goldman David, Heston Leonard L, Sommer Steve |
| MECP2 mutation analysis in patients with mental retardation. American journal of medical genetics. Part A 2005 Jan 132A (2): 121-4. Ylisaukko-Oja Tero, Rehnström Karola, Vanhala Raija, Kempas Elli, von Koskull Harriet, Tengström Carola, Mustonen Aki, Ounap Katrin, Lähdetie Jaana, Järvelä Ir |
| The A140V mutation in the MECP2 gene is not a common etiological factor among Brazilian mentally retarded males. Neuroscience letters 2005 Apr 379 (1): 13-6. dos Santos Jussara Mendonça, Abdalla Cláudia Bueno, Campos Mário, Santos-Rebouças Cíntia Barros, Pimentel Márcia Mattos Gonçalv |
| Screening for MECP2 mutations in Spanish patients with an unexplained mental retardation. Clinical genetics 2006 Aug 70 (2): 140-4. Tejada M-I, Peñagarikano O, Rodriguez-Revenga L, Martinez-Bouzas C, García B, Bádenas C, Guitart M, Minguez M, García-Alegría E, Sanz-Parra A, Beristain E, Milá |
| Sequence variants within exon 1 of MECP2 occur in females with mental retardation. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Apr 144B (3): 355-60. Harvey Chris G, Menon Sailesh D, Stachowiak Beata, Noor Abdul, Proctor Adam, Mensah Albert K, Mnatzakanian Gevork N, Alfred Simon E, Guo Ray, Scherer Stephen W, Kennedy James L, Roberts Wendy, Srivastava Anand K, Srivistava Anand K, Minassian Berge A, Vincent John |
| Low significance of MECP2 mutations as a cause of mental retardation in Brazilian males. Brain & development 2007 Jun 29 (5): 293-7. Campos Mário, Abdalla Cláudia Bueno, Santos-Rebouças Cíntia Barros, dos Santos Adriana Vaz, Pestana Cristiane Pinheiro, Domingues Mariana Lopes, dos Santos Jussara Mendonça, Pimentel Márcia Mattos Gonçalv |
| MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007 Jun 144B (4): 475-83. Coutinho Ana M, Oliveira Guiomar, Katz Cécile, Feng Jinong, Yan Jin, Yang Chunmei, Marques Carla, Ataíde Assunção, Miguel Teresa S, Borges Luís, Almeida Joana, Correia Catarina, Currais António, Bento Celeste, Mota-Vieira Luísa, Temudo Teresa, Santos Mónica, Maciel Patrícia, Sommer Steve S, Vicente Astrid |
| Mutation screening of the MECP2 gene in a large cohort of 613 fragile-X negative patients with mental retardation. European journal of medical genetics 0 50 (3): 200-8. Lesca Gaëtan, Bernard Virginie, Bozon Muriel, Touraine Renaud, Gérard Daniel, Edery Patrick, Calender Ala |
| Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardation. Disease markers 2008 24 (6): 319-24. Santos Mónica, Yan Jin, Temudo Teresa, Oliveira Guiomar, Vieira José Pedro, Fen Jinong, Sommer Steve, Maciel Patríc |
| 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 |
| Rett syndrome: prevalence among Chinese and a comparison of MECP2 mutations of classic Rett syndrome with other neurodevelopmental disorders. Journal of child neurology 2007 Dec 22 (12): 1397-400. Wong Virginia C N, Li Susanna Y |
| 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 |
| [Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome]. Zhonghua er ke za zhi. Chinese journal of pediatrics 2009 Feb 47 (2): 124-8. Li Mei-rong, Pan Hong, Bao Xin-hua, Zhu Xing-wang, Cao Guang-na, Zhang Yu-zhi, Wu Xi- |
| Methyl-CpG-binding protein 2 (MECP2) gene mutations in an Italian sample of patients with pervasive developmental disorder and mental retardation. Journal of child neurology 2009 Jun 24 (6): 772-4. Parmeggiani Antonia, Tedde Maria Rita, Arbizzani Annalisa, Posar Annio, Scaduto Maria Cristina, Santucci Margherita, Sangiorgi Simonet |
| 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 |
| High frequency of nonrecurrent MECP2 duplications among Brazilian males with mental retardation. Journal of molecular neuroscience : MN 2010 May 41 (1): 105-9. Campos Mário, Churchman Sarah M, Santos-Rebouças Cíntia Barros, Ponchel Frederique, Pimentel Márcia Mattos Gonçalv |
| 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 |
| [Molecular diagnosis and functional study of a pedigree affected with Lubs X-linked mental retardation syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 4 36 (4): 340-343. Jiang Chen, Pan Nan, Lyu Weigang, Peng Ying, Liu Jing, Guo Ruolan, Chang Jiazhen, Liang Desheng, Wu Lingqi |
| [Genetic analysis of a pedigree with MECP duplication syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2020 9 37 (10): 1146-1149. Liu Jing, Xi Hui, Peng Ying, Pang Jialun, Hu Jiancheng, Ma Na, Jia Zhengjun, Wang H |
- Page last reviewed:Oct 1, 2023
- Page last updated:Dec 01, 2023
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