Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 283 Records) |
Query Trace: FMR1[original query] |
---|
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 |
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 |
Identification of clinical prognostic features of esophageal cancer based on m6A regulators. Frontiers in immunology 2022 9 13 950365. Wang Huimei, Zhang Yiping, Chen Lin, Liu Yufeng, Xu Chen, Jiang Dongxian, Song Qi, Wang Haixing, Wang Liyan, Lin Yu, Chen Yuanmei, Chen Junqiang, Xu Yuanji, Hou Yingyo |
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 |
Low normal FMR1 genotype in older adult women: Psychological well-being and motor function. Archives of gerontology and geriatrics 2022 8 103 104789. Klusek Jessica, Newman-Norlund Roger, Fairchild Amanda J, Newman-Norlund Sarah, Sayers Sara, Stewart Jill C, Berry-Kravis Elizabeth, Fridriksson Juli |
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 |
Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles. Dementia & neuropsychologia 2022 6 16 (1): 105-114. Martins Aline Aparecida Silva, Paiva Giulia Moreira, Matosinho Carolina Guimarães Ramos, Coser Elisângela Monteiro, Fonseca Pablo Augusto de Souza, Haase Vitor Geraldi, Carvalho Maria Raquel Sant |
GIPC1 CGG Repeat Expansion Is Associated with Movement Disorders. Annals of neurology 2022 2 91 (5): 704-715. Fan Yu, Shen Si, Yang Jing, Yao Dabao, Li Mengjie, Mao Chengyuan, Wang Yunchao, Hao Xiaoyan, Ma Dongrui, Li Jiadi, Shi Jingjing, Guo Mengnan, Li Shuangjie, Yuan Yanpeng, Liu Fen, Yang Zhihua, Zhang Shuo, Hu Zhengwei, Fan Liyuan, Liu Han, Zhang Chan, Wang Yanlin, Wang Qingzhi, Zheng Hong, He Ying, Song Bo, Xu Yuming, Shi Chang |
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 |
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 |
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 |
Can FMR1 CGG repeat lengths predict the outcome in ICSI cycles? Ginekologia polska 2022 1 93 (9): 735-741. Cogendez Ebru, Ozkaya Enis, Eser Aylin Çak?ro?lu, Eken Meryem, Karaman A |
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 |
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 |
Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of families. Fertility and sterility 2022 Jan . Rouen Alexandre, Rogers Eli, Kerlan Véronique, Delemer Brigitte, Catteau-Jonard Sophie, Reznik Yves, Gompel Anne, Cedrin Isabelle, Guedj Anne-Marie, Grouthier Virginie, Brue Thierry, Pienkowski Catherine, Bachelot Anne, Chantot-Bastaraud Sandra, Rousseau Alexandra, Simon Tabassome, Kott Esther, Siffroi Jean-Pierre, Touraine Philippe, Christin-Maitre Soph |
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 |
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 |
A Systematic Review of Genetics and Reproductive Health Outcomes: Asian Perspective. Reproductive sciences (Thousand Oaks, Calif.) 2023 7 . Cheryl Long, Paula Benny, Jeannie Yap, Jovin Lee, Zhongwei Hua |
The genetics of autism spectrum disorder in an East African familial cohort. Cell genomics 2023 7 3 (7): 100322. Islam Oguz Tuncay, Darlene DeVries, Ashlesha Gogate, Kiran Kaur, Ashwani Kumar, Chao Xing, Kimberly Goodspeed, Leah Seyoum-Tesfa, Maria H Chahro |
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation. Cells 2023 7 12 (13): . Dragana Protic, Roberta Polli, Ye Hyun Hwang, Guadalupe Mendoza, Randi Hagerman, Blythe Durbin-Johnson, Bruce E Hayward, Karen Usdin, Alessandra Murgia, Flora Tasso |
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 |
The association between a carrier state of FMR1 premutation and numeric sex chromosome variations. Journal of assisted reproduction and genetics 2023 2 . Malcov Mira, Blickstein Ophir, Brabbing-Goldstein Dana, Reches Adi, Kalma Yael, Fouks Yuval, Azem Foad, Cohen Yo |
Stratification of the risk of ovarian dysfunction by studying the complexity of intermediate and premutation alleles of the FMR1 gene. American journal of medical genetics. Part A 2023 11 . Juliette Quilichini, Sandrine Perol, Laurence Cuisset, Sarah Grotto, Corinne Fouveaut, Jean Claude Barbot, Camille Verebi, Pénélope Jordan, Delphine Héron, Denise Molina-Gomes, Eva Pipiras, Michael Grynberg, Sophie Catteau-Jonard, Philippe Touraine, Sophie Christin-Maître, Geneviève Plu-Bureau, Laila El Khattabi, Thierry Bienve |
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 |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: