Human Genome Epidemiology Literature Finder
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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 |
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 |
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center. Journal of autism and developmental disorders 2021 Nov . Du Xiaoli, Glass Jennifer Elaine, Balow Stephanie, Dyer Lisa M, Rathbun Pamela A, Guan Qiaoning, Liu Jie, Wu Yaning, Dawson D Brian, Walters-Sen Lauren, Smolarek Teresa A, Zhang Wenyi |
Error-prone repair of stalled replication forks drives mutagenesis and loss of heterozygosity in haploinsufficient BRCA1 cells. Molecular cell 2022 9 82 (20): 3781-3793.e7. Deshpande Madhura, Paniza Theodore, Jalloul Nahed, Nanjangud Gouri, Twarowski Jerzy, Koren Amnon, Zaninovic Nikica, Zhan Qiansheng, Chadalavada Kalyani, Malkova Anna, Khiabanian Hossein, Madireddy Advaitha, Rosenwaks Zev, Gerhardt Jeanni |
Genetic counseling and carrier screening in candidates for gamete donation at a Portuguese center. JBRA assisted reproduction 2022 8 . Soares Célia Azevedo, Tkachenko Natália, Vale-Fernandes Emídio, Barreiro Márcia, Abreu Maria, Reis Cláudia Falcão, Soares Gabriela, Fortuna Ana Maria, Soares Ana Ri |
Molecular genetics of Parkinson's disease: Contributions and global trends. Journal of human genetics 2022 7 . Funayama Manabu, Nishioka Kenya, Li Yuanzhe, Hattori Nobuta |
Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes. Translational psychiatry 2022 Jul 12 (1): 265. Kimura Hiroki, Nakatochi Masahiro, Aleksic Branko, Guevara James, Toyama Miho, Hayashi Yu, Kato Hidekazu, Kushima Itaru, Morikawa Mako, Ishizuka Kanako, Okada Takashi, Tsurusaki Yoshinori, Fujita Atsushi, Miyake Noriko, Ogi Tomoo, Takata Atsushi, Matsumoto Naomichi, Buxbaum Joseph, Ozaki Norio, Sebat Jonath |
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 |
Identification of a Rare Variant of c.1777G>A (p.G593S) in the COL1A1 Gene as the Etiology of Recurrent Osteogenesis Imperfecta by Whole-Exome Sequencing. Frontiers in pediatrics 2022 4 10 816090. Zhuang Jianlong, Chen Chunnuan, Chen Yu'e, Luo Qi, Wang Yuanbai, Jiang Yuying, Zeng Shuhong, Xie Yingjun, Chen Dongm |
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 |
Association between miR-146a rs2910164, miR-196a2 rs11614913, and miR-499 rs3746444 polymorphisms and the risk of esophageal carcinoma: A case-control study. Cancer medicine 2022 May . Liu Chao, Gao Wenhui, Shi Yijun, Lv Lu, Tang Weife |
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 |
Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test. BMC neurology 2023 8 23 (1): 292. Frenny Sheth, Jhanvi Shah, Deepika Jain, Siddharth Shah, Harshkumar Patel, Ketan Patel, Dhaval I Solanki, Anand S Iyer, Bhargavi Menghani, Priti Mhatre, Sanjiv Mehta, Shruti Bajaj, Vishal Patel, Manoj Pandya, Deepak Dhami, Darshan Patel, Jayesh Sheth, Harsh She |
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 |
[Genetic analysis of a Fra(16)(q22) fragile site in a female with secondary infertility]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2023 3 40 (4): 495-499. Xie Chengxiu, Gao Chonglan, Kang Han, Liu Qingso |
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 |
Association between testosterone and cancers risk in women: a two-sample Mendelian randomization study. Discover. Oncology 2023 11 14 (1): 198. Zhizhou Li, Maoyu Wang, Meimian Hua, Ziwei Wang, Yidie Ying, Zhensheng Zhang, Shuxiong Zeng, Huiqing Wang, Chuanliang |
Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease. medRxiv : the preprint server for health sciences 2023 10 . Kensuke Daida, Manabu Funayama, Kimberley J Billingsley, Laksh Malik, Abigail Miano-Burkhardt, Hampton L Leonard, Mary B Makarious, Hirotaka Iwaki, Jinhui Ding, J Raphael Gibbs, Mayu Ishiguro, Hiroyo Yoshino, Kotaro Ogaki, Genko Oyama, Kenya Nishioka, Risa Nonaka, Wado Akamatsu, Cornelis Blauwendraat, Nobutaka Hatto |
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 |
Apolipoproteine and KLOTHO Gene Variants Do Not Affect the Penetrance of Fragile X-Associated Tremor/Ataxia Syndrome. International journal of molecular sciences 2024 8 25 (15): . Tri Indah Winarni, Ye Hyun Hwang, Susan M Rivera, David Hessl, Blythe P Durbin-Johnson, Agustini Utari, Randi Hagerman, Flora Tasso |
Evaluation of the gene fusion landscape in early onset sporadic rectal cancer reveals association with chromatin architecture and genome stability. Oncogene 2024 6 . Asmita Gupta, Sumedha Avadhanula, Murali Dharan Bashy |
FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea. Reproductive biology and endocrinology : RB&E 2024 6 22 (1): 71. Bárbara Rodrigues, Vanessa Sousa, Carolyn M Yrigollen, Flora Tassone, Olatz Villate, Emily G Allen, Anne Glicksman, Nicole Tortora, Sarah L Nolin, António J A Nogueira, Paula Jor |
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 |
Negative effect of treatment with mGluR5 negative allosteric modulator AFQ056 on blood biomarkers in young individuals with Fragile X syndrome. SAGE open medicine 2024 11 12 20503121241282401. Dragana Protic, Elizabeth Breeze, Guadalupe Mendoza, Marwa Zafarullah, Leonard Abbeduto, Randi Hagerman, Christopher Coffey, Merit Cudkowicz, Blythe Durbin-Johnson, Paul Ashwood, Elizabeth Berry-Kravis, Craig A Erickson, Robin Filipink, Andrea Gropman, Lenora Lehwald, Angela Maxwell-Horn, Stephanie Morris, Amanda Palladino Bennett, Lisa Prock, Amy Talboy, Nicole Tartaglia, Jeremy Veenstra-VanderWeele, Flora Tasso |
- Page last reviewed:Feb 1, 2024
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