Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 157 Records) |
| Query Trace: Syndrome and FMR1[original query] |
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| 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 |
| Are ovarian response and pregnancy rates similar in selected FMR1 premutated and mutated patients undergoing preimplantation genetic testing? Journal of assisted reproduction and genetics 2020 Jun . Ranisavljevic Noemie, Hess Mathilde, Castelli Christel, Willems Marjolene, Ferrieres-Hoa Alice, Girardet Anne, Anahory T |
| FMR1 Low Zone CGG Repeats: Phenotypic Associations in the Context of Parenting Stress. Frontiers in pediatrics 2020 6 8 223. Mailick Marsha R, Hong Jinkuk, DaWalt Leann Smith, Greenberg Jan S, Movaghar Arezoo, Baker Mei Wang, Rathouz Paul J, Brilliant Murray |
| Study of telomere length in men who carry a fragile X premutation or full mutation allele. Human genetics 2020 6 139 (12): 1531-1539. Albizua Igor, Chopra Pankaj, Allen Emily G, He Weiya, Amin Ashima S, Sherman Stephanie |
| Glucocorticoid regulation and neuroanatomy in fragile x syndrome. Journal of psychiatric research 2020 Dec 134 81-88. Bruno Jennifer L, Hong David S, Lightbody Amy A, Hosseini S M Hadi, Hallmayer Joachim, Reiss Allan |
| 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 |
| Eye Movements in Fragile X-Associated Tremor/Ataxia Syndrome. Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society 2020 Oct . Hall Deborah A, Leehey Maureen A, Hagerman Randi J, Pelak Victoria |
| Metabolomic Biomarkers Are Associated With Area of the Pons in Fragile X Premutation Carriers at Risk for Developing FXTAS. Frontiers in psychiatry 2021 9 12 691717. Zafarullah Marwa, Durbin-Johnson Blythe, Fourie Emily S, Hessl David R, Rivera Susan M, Tassone Flo |
| What is the threshold of mature oocytes to obtain at least one healthy transferable cleavage-stage embryo after preimplantation genetic testing for fragile X syndrome? Human reproduction (Oxford, England) 2021 9 36 (11): 3003-3013. Sonigo C, Mayeur A, Sadoun M, Pinto M, Benguigui J, Frydman N, Monnot S, Benachi A, Steffann J, Grynberg |
| The association of FMR1 gene (CGG)n variation with idiopathic female infertility. Archives of medical science : AMS 2021 9 17 (5): 1303-1307. Grasmane Adele, Rots Dmitrijs, Vitina Zane, Magomedova Valerija, Gailite Lin |
| Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic Variation in the General Population? Report From a Cohort of 5,499 Adults. Frontiers in psychiatry 2021 8 12 727085. Hong Jinkuk, DaWalt Leann, Baker Mei Wang, Berry-Kravis Elizabeth M, Mailick Marsha |
| Men with FMR1 premutation alleles of less than 71 CGG repeats have low risk of being affected with fragile X-associated tremor/ataxia syndrome (FXTAS). Journal of medical genetics 2021 Jul . Martin Ellenore M, Zhu Ying, Kraan Claudine M, Kumar Kishore R, Godler David E, Field Micha |
| Characterization of the Cerebrospinal Fluid Proteome in Patients with Fragile X-Associated Tremor/Ataxia Syndrome. Cerebellum (London, England) 2021 5 21 (1): 86-98. Abbasi Diana A, Nguyen Thu T A, Hall Deborah A, Robertson-Dick Erin, Berry-Kravis Elizabeth, Cologna Stephanie |
| Towards a Change in the Diagnostic Algorithm of Autism Spectrum Disorders: Evidence Supporting Whole Exome Sequencing as a First-Tier Test. Genes 2021 4 12 (4): . Arteche-López Ana, Gómez Rodríguez Maria José, Sánchez Calvin Maria Teresa, Quesada-Espinosa Juan Francisco, Lezana Rosales Jose Miguel, Palma Milla Carmen, Gómez-Manjón Irene, Hidalgo Mayoral Irene, Pérez de la Fuente Rubén, Díaz de Bustamante Arancha, Darnaude María Teresa, Gil-Fournier Belén, Ramiro León Soraya, Ramos Gómez Patricia, Sierra Tomillo Olalla, Juárez Rufián Alexandra, Arranz Cano Maria Isabel, Villares Alonso Rebeca, Morales-Pérez Pablo, Segura-Tudela Alejandro, Camacho Ana, Nuñez Noemí, Simón Rogelio, Moreno-García Marta, Alvarez-Mora Maria Isab |
| '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 |
| Accuracy and Performance Evaluation of Triplet Repeat Primed PCR as an Alternative to Conventional Diagnostic Methods for Fragile X Syndrome. Annals of laboratory medicine 2021 2 41 (4): 394-400. Gu Hyunjung, Kim Man Jin, Yang Dahae, Song Ji Yun, Cho Sung Im, Park Sung Sup, Seong Moon-W |
| Screening for FMR1 CGG Repeat Expansion in Thai Patients with Autism Spectrum Disorder. BioMed research international 2021 12 2021 4359308. Hnoonual Areerat, Jankittunpaiboon Charunee, Limprasert Pornpr |
| FMR1 allele frequencies in 51,000 newborns: a large-scale population study in China. World journal of pediatrics : WJP 2021 Nov . Zhang Jin-Yu, Wu Ding-Wen, Yang Ru-Lai, Zhu Lin, Jiang Meng-Yi, Wang Wen-Jun, Li Xue-Kun, Jiang Xiao-Ling, Tong Fan, Shu Qia |
| Both cis and trans-acting genetic factors drive somatic instability in female carriers of the FMR1 premutation. Scientific reports 2022 6 12 (1): 10419. Hwang Ye Hyun, Hayward Bruce Eliot, Zafarullah Marwa, Kumar Jay, Durbin Johnson Blythe, Holmans Peter, Usdin Karen, Tassone Flo |
| High normal sized CGG repeat on the FMR1 gene reduces live birth rates after in vitro fertilization in Han Chinese. Gene 2022 Apr 819 146204. Zhou Xuanyou, Shi Weihui, Ye Mujin, Chen Songchang, Xu Naixin, Xu Chenmi |
| Recurrent missense variant in the nuclear export signal of FMR1 associated with FXS-like phenotype including intellectual disability, ASD, facial abnormalities. European journal of medical genetics 2022 1 65 (3): 104441. Mangano Giuseppe Donato, Fontana Antonina, Salpietro Vincenzo, Antona Vincenzo, Mangano Giuseppa Renata, Nardello Rosar |
| Evidence for Three Subgroups of Female FMR1 Premutation Carriers Defined by Distinct Neuropsychiatric Features: A Pilot Study. Frontiers in integrative neuroscience 2022 1 15 797546. Schmitt Lauren M, Dominick Kelli C, Liu Rui, Pedapati Ernest V, Ethridge Lauren E, Smith Elizabeth, Sweeney John A, Erickson Craig |
| Blood Proteome Profiling Reveals Biomarkers and Pathway Alterations in Fragile X PM at Risk for Developing FXTAS. International journal of molecular sciences 2023 9 24 (17): . Marwa Zafarullah, Jie Li, Michelle R Salemi, Brett S Phinney, Blythe P Durbin-Johnson, Randi Hagerman, David Hessl, Susan M Rivera, Flora Tasso |
| Large-Scale Whole Genome Sequence Analysis of >22,000 Subjects Provides no Evidence of FMR1 Premutation Allele Involvement in Autism Spectrum Disorder. Genes 2023 8 14 (8): . Alex Chubick, Evan Wang, Cora Au, Wayne W Grody, Roel A Opho |
| Health Effects of Sleep Quality in Premutation Carrier Mothers of Individuals With Fragile X Syndrome. American journal on intellectual and developmental disabilities 2023 4 128 (3): 254-268. Robert S Dembo, Jinkuk Hong, Leann Smith DaWalt, Elizabeth M Berry-Kravis, Marsha R Maili |
| The incidence and clinical characteristics of fragile X syndrome in China. Frontiers in pediatrics 2023 3 11 1064104. Mei Lianni, Hu Chunchun, Li Dongyun, Wang Ya, Li Huiping, Zhang Kaifeng, Zhou Bingrui, Zhu Ruoping, Hagerman Randi J, Xu Xiu, Xu Qio |
| 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 |
| CGG repeats in the human FMR1 gene regulate mRNA localization and cellular stress in developing neurons. Cell reports 2024 6 43 (6): 114330. Carissa L Sirois, Yu Guo, Meng Li, Natalie E Wolkoff, Tomer Korabelnikov, Soraya Sandoval, Jiyoun Lee, Minjie Shen, Amaya Contractor, Andre M M Sousa, Anita Bhattacharyya, Xinyu Zh |
| Genetics architecture of spontaneous coronary artery dissection in an Italian cohort. Frontiers in cardiovascular medicine 2024 12 11 1486273. Marta Casula, Daniela Marchetti, Lucia Trevisan, Laura Pezzoli, Matteo Bellini, Serena Patrone, Antonio Zingarelli, Fabio Gotta, Maria Iascone, Paola Mandi |
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