Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 43 Records) |
| Query Trace: Disease and FMR1[original query] |
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| FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes. Behavioral and brain functions : BBF 2011 7 (1): 19. Seixas Ana I, Vale José, Jorge Paula, Marques Isabel, Santos Rosário, Alonso Isabel, Fortuna Ana M, Pinto-Basto Jorge, Coutinho Paula, Margolis Russell L, Sequeiros Jorge, Silveira Isab |
| Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism. Genetics in medicine : official journal of the American College of Medical Genetics 2011 May 13 (5): 392-9. Loesch Danuta Z, Godler David E, Evans Andrew, Bui Quang M, Gehling Freya, Kotschet Katya E, Trost Nicholas, Storey Elsdon, Stimpson Paige, Kinsella Glynda, Francis David, Thorburn David R, Venn Alison, Slater Howard R, Horne Malco |
| Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia. Clinical rheumatology 2012 Nov 31 (11): 1611-5. Martorell Loreto, Tondo Mireia, Garcia-Fructuoso Ferrán, Naudo Montserrat, Alegre Cayetano, Gamez Josep, Genovés Jordi, Poo Pil |
| Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways. Human molecular genetics 2012 Aug 21 (15): 3513-23. Griswold Anthony J, Ma Deqiong, Cukier Holly N, Nations Laura D, Schmidt Mike A, Chung Ren-Hua, Jaworski James M, Salyakina Daria, Konidari Ioanna, Whitehead Patrice L, Wright Harry H, Abramson Ruth K, Williams Scott M, Menon Ramkumar, Martin Eden R, Haines Jonathan L, Gilbert John R, Cuccaro Michael L, Pericak-Vance Margaret |
| New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease. Clinical genetics 2012 Nov . Loesch D, F T, J L, Slater H, Hills L, Bui M, Silburn P, Mellick G |
| FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States. Genome medicine 2012 Dec 4 (12): 12. Tassone F, Long KP, Tong TH, Lo J, Gane LW, Berry-Kravis E, Nguyen D, Mu LY, Laffin J, Bailey DB, Hagerman RJ |
| Screening for the presence of FMR1 premutation alleles in women with fibromyalgia. Gene 2012 Oct . Rodriguez-Revenga L, Madrigal I, Blanch-Rubió J, Elurbe DM, Docampo E, Collado A, Vidal J, Carbonell J, Estivill X, Mila M |
| FXTAS: new insights and the need for revised diagnostic criteria. Neurology 2012 Oct . Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Tran Thanh H, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M |
| High apolipoprotein E4 allele frequency in FXTAS patients. Genetics in medicine : official journal of the American College of Medical Genetics 2013 Aug 15 (8): 639-42. Silva Francisca, Rodriguez-Revenga Laia, Madrigal Irene, Alvarez-Mora Maria Isabel, Oliva Rafael, Milà Montserr |
| Fragile X gene expansions are not associated with dementia. Neurobiology of aging 2014 Nov 35 (11): 2637-8. Hall Deborah A, Bennett David A, Filley Christopher M, Shah Raj C, Kluger Benzi, Ouyang Bichun, Berry-Kravis Elizabe |
| Investigation of memory, executive functions, and anatomic correlates in asymptomatic FMR1 premutation carriers. Neurobiology of aging 2014 Aug 35 (8): 1939-46. Hippolyte Loyse, Battistella Giovanni, Perrin Aline G, Fornari Eleonora, Cornish Kim M, Beckmann Jacques S, Niederhauser Julien, Vingerhoets François J G, Draganski Bogdan, Maeder Philippe, Jacquemont Sébasti |
| A genetic study of the FMR1 gene in a Sardinian multiple sclerosis population. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2015 Jul . Lorefice L, Tranquilli S, Fenu G, Murru M R, Frau J, Rolesu M, Coghe G C, Marrosu F, Marrosu M G, Cocco |
| DXS998-DXS548-FRAXAC1 represents a novel informative haplotype at the FMR1 locus in the Iranian population. Gene 2015 Oct 570 (2): 180-4. Shirani Mahsa, Vallian Sad |
| Pathological Effects of the FMR1 CGG-Repeat Polymorphism (5-55 Repeat Numbers): Systematic Review and Meta-Analysis. The Tohoku journal of experimental medicine 2016 05 239 (1): 57-66. Yang Wenjing, Fan Cuihua, Chen Liangyuan, Cui Zhaolei, Bai Ye, Lan Fengh |
| Screening for intermediate CGG alleles of FMR1 gene in male Iranian patients with Parkinsonism. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2016 Oct . Entezari Atefeh, Khaniani Mahmoud Shekari, Bahrami Tayyeb, Derakhshan Sima Mansoori, Darvish Hosse |
| Reduction in the number of CGG repeats on the FMR1 gene in carriers of genetic disorders versus noncarriers. JBRA assisted reproduction 2017 12 21 (4): 327-329. Peyser Alexandra, Singer Tomer, Mullin Christine, Hershlag Avn |
| Premutations of FMR1 CGG repeats are not related to idiopathic premature ovarian failure in Iranian patients: A case control study. Gene 2018 Jul . Asadi Rezvaneh, Omrani Mir Davood, Ghaedi Hamid, Mirfakhraie Reza, Azargashb Eznollah, Habibi Mohsen, Pouresmaeili Farkhond |
| [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 |
| FMR1 locus isoforms: potential biomarker candidates in fragile X-associated tremor/ataxia syndrome (FXTAS). Scientific reports 2020 Jul 10 (1): 11099. Zafarullah Marwa, Tang Hiu-Tung, Durbin-Johnson Blythe, Fourie Emily, Hessl David, Rivera Susan M, Tassone Flo |
| Quantification of Neural Activity in FMR1 Premutation Carriers during a Dynamic Sway Task using Source Localization. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference 2020 10 2020 2909-2912. Gaul Alan, O'Keeffe Clodagh, Dominguez Manuel Carro, O'Rourke Eugene, Reilly Richard |
| Association analysis of FMR1 genetic variants and primary ovarian insufficiency in South Indian women with a novel approach of CGG repeats classification. European journal of medical genetics 2020 Oct 104081. Komaravalli Prasanna Latha, Rani S Vasantha, Dalal Ashwin, Jahan Parve |
| Repeat expansion and methylation-sensitive triplet-primed polymerase chain reaction for fragile X mental retardation 1 gene screening in institutionalised intellectually disabled individuals. Singapore medical journal 2020 1 62 (3): 143-148. Sihombing Nydia Rena Benita, Cai Shiwei, Wong Daphne Pei Wen, Guan Ming, Chong Samuel Siong-Chuan, Faradz Sultana Muhammad Hussein, Winarni Tri Ind |
| 'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers. Twin research and human genetics : the official journal of the International Society for Twin Studies 2021 3 24 (2): 95-102. Loesch Danuta Z, Duffy David L, Martin Nicholas G, Tassone Flora, Atkinson Anna, Storey Elsd |
| Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing. Journal of assisted reproduction and genetics 2021 Feb . Shen Jiandong, Qu Dianyun, Gao Yan, Sun Fangxi, Xie Jiazi, Sun Xueping, Wang Daowu, Ma Xiang, Cui Yugui, Liu Jiayin, Diao Feiya |
| The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients. Brain : a journal of neurology 2022 11 . Wu Chujun, Wang Mengwen, Wang Xingao, Li Wei, Li Shaowu, Chen Bin, Niu Songtao, Tai Hongfei, Pan Hua, Zhang Zaiqia |
| Whole-exome sequencing reveals new potential genes and variants in patients with premature ovarian insufficiency. Journal of assisted reproduction and genetics 2022 1 39 (3): 695-710. Turkyilmaz Ayberk, Alavanda Ceren, Ates Esra Arslan, Geckinli Bilgen Bilge, Polat Hamza, Gokcu Mehmet, Karakaya Taner, Cebi Alper Han, Soylemez Mehmet Ali, Guney Ahmet ?lter, Ata Pinar, Arman Ahm |
| Evaluation of the role of FMR1 CGG repeat allele in Parkinson's disease from the Chinese population. Frontiers in aging neuroscience 2023 8 15 1234027. Juan Chen, Yuwen Zhao, Xun Zhou, Jin Xue, Qiao Xiao, Hongxu Pan, Xiaoxia Zhou, Yaqin Xiang, Jian Li, Liping Zhu, Zhou Zhou, Yang Yang, Qian Xu, Qiying Sun, Xinxiang Yan, Jieqiong Tan, Jinchen Li, Jifeng Guo, Ranhui Duan, Beisha Tang, Qiao Yu, Zhenhua L |
| FMR1 gene CGG repeat distribution among the three individual cohorts with intellectual disability, autism, and primary ovarian insufficiency from Tamil Nadu, Southern India. Advanced genetics (Hoboken, N.J.) 2023 1 2 (2): e10048. Nagarathinam Indhumathi, Chong Samuel S, B K Thelma, Justin Margret Jeffrey, Venkataraman Viswanathan, Natarajan Padmavathy Karthikeyen, Srisailapathy C R Srikuma |
| Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome. Frontiers in aging neuroscience 2023 1 14 1073258. Elias-Mas Andrea, Potrony Miriam, Bague Jaume, Cutler David J, Alvarez-Mora Maria Isabel, Torres Teresa, Barcos Tamara, Puig-Butille Joan Anton, Rubio Marta, Madrigal Irene, Puig Susana, Allen Emily G, Rodriguez-Revenga La |
| Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing. BMC medical genomics 2024 4 17 (1): 98. Anett Illés, Henriett Pikó, Kristóf Árvai, Veronika Donka, Olívia Szepesi, János Kósa, Péter Lakatos, Artúr Be |
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