Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 109 Records) |
| Query Trace: Mental Retardation and Fmr1[original query] |
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| Prognostic dilemmas and genetic counseling for prenatally detected fragile X gene expansions. Prenatal diagnosis 2017 Jan 37 (1): 37-42. Finucane Brenda, Lincoln Sharyn, Bailey Lindsay, Martin Christa Le |
| Molecular analysis of fragile X syndrome (FXS) among Malaysian patients with developmental disability. The Malaysian journal of pathology 2017 9 39 (2): 99-106. Ali E Z, Yakob Y, Md Desa N, Ishak T, Zakaria Z, Ngu L K, Keng W |
| Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency. Genes 2017 Aug 8 (8): . Espeche Lucía Daniela, Chiauzzi Violeta, Ferder Ianina, Arrar Mehrnoosh, Solari Andrea Paula, Bruque Carlos David, Delea Marisol, Belli Susana, Fernández Cecilia Soledad, Buzzalino Noemí Delia, Charreau Eduardo Hernán, Dain Liliana Beatr |
| 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 |
| Expanded alleles of the FMR1 gene are related to unexplained recurrent miscarriages. Bioscience reports 2017 10 37 (6): . Wang Xin-Hua, Song Xiao-Hua, Wang Yan-Lin, Diao Xing-Hua, Li Tong, Li Qing-Chun, Zhang Xiang-Hui, Deng Xiao-H |
| FMR1 expression in human granulosa cells increases with exon 1 CGG repeat length depending on ovarian reserve. Reproductive biology and endocrinology : RB&E 2018 7 16 (1): 65. Rehnitz Julia, Alcoba Diego D, Brum Ilma S, Dietrich Jens E, Youness Berthe, Hinderhofer Katrin, Messmer Birgitta, Freis Alexander, Strowitzki Thomas, Germeyer Aria |
| Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations. BMC medical genetics 2018 7 19 (1): 113. Beke Artur, Piko Henriett, Haltrich Iren, Karcagi Veronika, Rigo Janos, Molnar Maria Judit, Fekete Györ |
| Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study. Biological psychiatry 2019 Apr 85 (7): 563-572. Silva Ana I, Ulfarsson Magnus O, Stefansson Hreinn, Gustafsson Omar, Walters G Bragi, Linden David E J, Wilkinson Lawrence S, Drakesmith Mark, Owen Michael J, Hall Jeremy, Stefansson Ka |
| Reduced RNA expression of the FMR1 gene in women with low (CGGn<26) repeats. PloS one 2018 12 13 (12): e0209309. Wang Qi, Barad David H, Darmon Sarah K, Kushnir Vitaly A, Wu Yan-Guang, Lazzaroni-Tealdi Emanuela, Zhang Lin, Albertini David F, Gleicher Norbe |
| Haplotype Analysis of DXS548 and FRAXAC1 Microsatellite Loci in Iranian Patients with Fragile X Syndrome. Iranian journal of child neurology 2018 12 (1): 36-46. Aleyasin Seyed Ahmad, Salamat Fatemeh, Mirakhori Mojg |
| Functional motor control deficits in older FMR1 premutation carriers. Experimental brain research 2019 6 237 (9): 2269-2278. Park Seoung Hoon, Wang Zheng, McKinney Walker, Khemani Pravin, Lui Su, Christou Evangelos A, Mosconi Matthew |
| [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 |
| Are expanded alleles of the FMR1 gene related to unexplained recurrent miscarriages? Hippokratia 2019 10 22 (3): 132-136. Fragkos M, Bili H, Ntelios D, Tzimagiorgis G, Tarlatzis B |
| Defining the role of FMR1 gene in unexplained recurrent spontaneous abortion. Journal of assisted reproduction and genetics 2019 10 36 (11): 2245-2250. Dean Deepika Delsa, Agarwal Sarita, Muthuswamy Srinivas |
| 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 |
| 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 |
| Chinese women with 29-30 FMR1 CGG repeats have an earlier menopause. Climacteric : the journal of the International Menopause Society 2020 2 23 (3): 298-305. Tang R, Chen R, Luo M, Lin S, Yu |
| 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 |
| A study on the role of FMR1 CGG trinucleotide repeats in Jordanian poor ovarian responders. Gene 2020 10 767 145174. Batiha Osamah, Shaaban Sherin T, Al-Smadi Mohammad, Jarun Yousef, Maswadeh Ahmad, Alahmad Nour Alhoda, Al-Talib Mohammad |
| 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 |
| 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 |
| 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 |
| [Significance and case analysis of FMR1 mutation screening during early and middle pregnancy]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2021 May 38 (5): 450-453. Cao Qinying, Mu Weihong, Sun Donglan, Zhu Junzhen, Ge Jun, Peng Yuanyuan, Zhang Ji |
| Maternal germline factors associated with aneuploid pregnancy loss: a systematic review. Human reproduction update 2021 . Blyth Ursula, Craciunas Laurentiu, Hudson Gavin, Choudhary Meenaks |
| '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 |
| 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 |
| 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 |
| 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 |
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