Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Intellectual Disability and FMR1[original query] |
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| Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population. The Journal of molecular diagnostics : JMD 2009 Jul 11 (4): 324-9. Fernandez-Carvajal Isabel, Walichiewicz Paulina, Xiaosen Xie, Pan Ruiqin, Hagerman Paul J, Tassone Flo |
| Screening for the presence of FMR1 premutation alleles in a Spanish population with fibromyalgia. Clinical rheumatology 2012 Nov 31 (11): 1611-5. Martorell Loreto, Tondo Mireia, Garcia-Fructuoso Ferrán, Naudo Montserrat, Alegre Cayetano, Gamez Josep, Genovés Jordi, Poo Pil |
| Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women. Genetics in medicine : official journal of the American College of Medical Genetics 2014 Dec 16 (12): 940-4. Weiss Karin, Orr-Urtreger Avi, Kaplan Ber Idit, Naiman Tova, Shomrat Ruth, Bardugu Eyal, Yaron Yuval, Ben-Shachar Sh |
| Anxiety disorders in fragile X premutation carriers: Preliminary characterization of probands and non-probands. Intractable & rare diseases research 2015 Aug 4 (3): 123-30. Cordeiro Lisa, Abucayan Floridette, Hagerman Randi, Tassone Flora, Hessl Dav |
| Unique AGG Interruption in the CGG Repeats of the FMR1 Gene Exclusively Found in Asians Linked to a Specific SNP Haplotype. Genetics research international 2016 2016 8319287. Limprasert Pornprot, Thanakitgosate Janpen, Jaruthamsophon Kanoot, Sripo Than |
| Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? Journal of human genetics 2016 Oct . Maia Nuno, Loureiro Joana R, Oliveira Bárbara, Marques Isabel, Santos Rosário, Jorge Paula, Martins Sand |
Common-variant associations with fragile X syndrome.
Molecular psychiatry 2019 Mar 24 (3): 338-344. Crowley James J, Szatkiewicz Jin, Kähler Anna K, Giusti-Rodriguez Paola, Ancalade NaEshia, Booker Jessica K, Carr Jennifer L, Crawford Greg E, Losh Molly, Stockmeier Craig A, Taylor Annette K, Piven Joseph, Sullivan Patrick |
| 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- |
| 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 |
| Simultaneous Screening of the FRAXA and FRAXE Loci for Rapid Detection of FMR1 CGG and/or AFF2 CCG Repeat Expansions by Triplet-Primed PCR. The Journal of molecular diagnostics : JMD 2021 6 23 (8): 941-951. Liu Timing, Wang Furene S, Cheah Felicia S H, Gu Yanghong, Shaw Marie, Law Hai-Yang, Tay Stacey K H, Lee Caroline G, Nelson David L, Gecz Jozef, Chong Samuel |
| 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 |
| 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 |
| 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 |
- Page last reviewed:Feb 1, 2024
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