Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 136 Records) |
| Query Trace: Fragile x syndrome[original query] |
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| Inhibition deficits are modulated by age and CGG repeat length in carriers of the FMR1 premutation allele who are mothers of children with fragile X syndrome. Brain and cognition 2019 Dec 139 105511. Klusek Jessica, Hong Jinkuk, Sterling Audra, Berry-Kravis Elizabeth, Mailick Marsha |
| Fragile X syndrome carrier screening in pregnant women in Chinese Han population. Scientific reports 2019 10 9 (1): 15456. Hung Chia-Cheng, Lee Chien-Nan, Wang Yu-Chu, Chen Chih-Ling, Lin Tze-Kang, Su Yi-Ning, Lin Ming-Wei, Kang Jessica, Tai Yi-Yun, Hsu Wen-Wei, Lin Shin- |
| Genetic modifiers in rare disorders: the case of fragile X syndrome. European journal of human genetics : EJHG 2020 8 29 (1): 173-183. Crawford Hayley, Scerif Gaia, Wilde Lucy, Beggs Andrew, Stockton Joanne, Sandhu Pria, Shelley Lauren, Oliver Chris, McCleery Jose |
| 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 |
| Molecular analysis of FMR1 gene in a population in Southern Brazil: Comparison of four methods. Practical laboratory medicine 2020 5 21 e00162. Ramos Cinthia, Ocampos Maristela, Barbato Ingrid Tremel, Graça Bicalho Maria da, Nisihara Rena |
| Hanoverian F/W-line contributes to segregation of Warmblood fragile foal syndrome type 1 variant PLOD1:c.2032G>A in Warmblood horses. Equine veterinary journal 2020 4 53 (1): 51-59. Metzger Julia, Kreft Oliver, Sieme Harald, Martinsson Gunilla, Reineking Wencke, Hewicker-Trautwein Marion, Distl Ottm |
| Assessment of FMR1 triplet repeats in patients affected with mental retardation, fragile X syndrome and primary ovarian insufficiency. Journal of genetics 2020 2 99 . Salimy Zeinab, Akbari Mohammad Taghi, Deilamani Faravareh Khordadpo |
| 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 |
| Urine microRNA Pro?ling Displays miR-125a Dysregulation in Children with Fragile X Syndrome. Cells 2020 1 9 (2): . Putkonen Noora, Laiho Asta, Ethell Doug, Pursiheimo Juha, Anttonen Anna-Kaisa, Pitkonen Juho, Gentile Adriana M, de Diego-Otero Yolanda, Castrén Maija |
| 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 |
| 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 |
| Behavioral Inflexibility Across Two Neurogenetic Conditions: Down Syndrome and Fragile X Syndrome. American journal on intellectual and developmental disabilities 2021 8 126 (5): 409-420. Harrop Clare, Dallman Aaron R, Lecavalier Luc, Bodfish James W, Boyd Brian |
| 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 |
| 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 |
| Prevalence of the RAPGEF5 c.2624C>A and PLOD1 c.2032G>A variants associated with equine familial isolated hypoparathyroidism and fragile foal syndrome in the US Thoroughbred population (1988-2019). Equine veterinary journal 2022 10 . Elcombe Megan E, Bellone Rebecca R, Magdesian K Gary, Finno Carrie |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
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