Fragile X syndrome (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Fragile X syndrome" in English language version.

refsWebsite

Global rank English rank

94nih.gov

4^th place

54doi.org

2^nd place

12web.archive.org

1^st place

8semanticscholar.org

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4harvard.edu

18^th place

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3cdc.gov

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3worldcat.org

5^th place

1acmg.net

low place

1yourgenome.org

low place

1fragilex.org.uk

low place

1who.int

195^th place

302^nd place

1zenodo.org

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1mcgill.ca

2,527^th place

1,840^th place

1fraxa.org

low place

acmg.net

"Technical Standards and Guidelines for Fragile X". www.acmg.net. 2006. Archived from the original on 12 October 2016. Retrieved 10 May 2017.

cdc.gov

"What is Fragile X Syndrome?". National Center on Birth Defects and Developmental Disabilities. US: Centers for Disease Control and Prevention. 3 June 2022. Archived from the original on 10 May 2017. Retrieved 10 May 2017.
"Data and Statistics Fragile X Syndrome (FXS)". Centers for Disease Control and Prevention. 2018-08-09. Archived from the original on 2019-10-13. Retrieved 2018-11-05.
CDC (2022-06-03). "What is Fragile X Syndrome (FXS)? | CDC". Centers for Disease Control and Prevention. Retrieved 2022-11-04.

doi.org

Raspa M, Wheeler AC, Riley C (June 2017). "Public Health Literature Review of Fragile X Syndrome". Pediatrics. 139 (Suppl 3): S153 – S171. doi:10.1542/peds.2016-1159C. PMC 5621610. PMID 28814537.
Friedman JM, Howard-Peebles PN (1986). "Inheritance of fragile X syndrome: an hypothesis". American Journal of Medical Genetics. 23 (1–2): 701–713. doi:10.1002/ajmg.1320230161. PMID 3006493. Retrieved 10 November 2024.
McLennan Y, Polussa J, Tassone F, Hagerman R (May 2011). "Fragile x syndrome". Current Genomics. 12 (3): 216–224. doi:10.2174/138920211795677886. PMC 3137006. PMID 22043169.
Garber KB, Visootsak J, Warren ST (June 2008). "Fragile X syndrome". European Journal of Human Genetics. 16 (6): 666–672. doi:10.1038/ejhg.2008.61. PMC 4369150. PMID 18398441.
Santoro MR, Bray SM, Warren ST (2012). "Molecular mechanisms of fragile X syndrome: a twenty-year perspective". Annual Review of Pathology. 7: 219–245. doi:10.1146/annurev-pathol-011811-132457. PMID 22017584.
Bartholomay KL, Lee CH, Bruno JL, Lightbody AA, Reiss AL (January 2019). "Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings". Brain Sciences. 9 (1): 11. doi:10.3390/brainsci9010011. PMC 6356553. PMID 30642066.
Hall SS, Burns DD, Lightbody AA, Reiss AL (August 2008). "Longitudinal changes in intellectual development in children with Fragile X syndrome". Journal of Abnormal Child Psychology. 36 (6): 927–939. doi:10.1007/s10802-008-9223-y. PMC 4820329. PMID 18347972.
Abbeduto L, Hagerman RJ (1997). "Language and communication in fragile X syndrome". Mental Retardation and Developmental Disabilities Research Reviews. 3 (4): 313–322. doi:10.1002/(SICI)1098-2779(1997)3:4<313::AID-MRDD6>3.0.CO;2-O. ISSN 1098-2779.
Budimirovic DB, Kaufmann WE (2011). "What can we learn about autism from studying fragile X syndrome?". Developmental Neuroscience. 33 (5): 379–394. doi:10.1159/000330213. PMC 3254037. PMID 21893949.
Pietropaolo S, Guilleminot A, Martin B, D'Amato FR, Crusio WE (February 2011). "Genetic-background modulation of core and variable autistic-like symptoms in Fmr1 knock-out mice". PLOS ONE. 6 (2): e17073. Bibcode:2011PLoSO...617073P. doi:10.1371/journal.pone.0017073. PMC 3043074. PMID 21364941.
Bernardet M, Crusio WE (September 2006). "Fmr1 KO mice as a possible model of autistic features". TheScientificWorldJournal. 6: 1164–1176. doi:10.1100/tsw.2006.220. PMC 5917219. PMID 16998604.
Mineur YS, Huynh LX, Crusio WE (March 2006). "Social behavior deficits in the Fmr1 mutant mouse". Behavioural Brain Research. 168 (1): 172–175. doi:10.1016/j.bbr.2005.11.004. PMID 16343653. S2CID 45731129.
Spencer CM, Alekseyenko O, Hamilton SM, Thomas AM, Serysheva E, Yuva-Paylor LA, Paylor R (February 2011). "Modifying behavioral phenotypes in Fmr1KO mice: genetic background differences reveal autistic-like responses". Autism Research. 4 (1): 40–56. doi:10.1002/aur.168. PMC 3059810. PMID 21268289.
Spencer CM, Graham DF, Yuva-Paylor LA, Nelson DL, Paylor R (June 2008). "Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene". Behavioral Neuroscience. 122 (3): 710–715. doi:10.1037/0735-7044.122.3.710. PMID 18513141.
Tranfaglia MR (2011). "The psychiatric presentation of fragile x: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome". Developmental Neuroscience. 33 (5): 337–348. doi:10.1159/000329421. PMID 21893938. S2CID 207554509.
Holsen LM, Dalton KM, Johnstone T, Davidson RJ (November 2008). "Prefrontal social cognition network dysfunction underlying face encoding and social anxiety in fragile X syndrome". NeuroImage. 43 (3): 592–604. doi:10.1016/j.neuroimage.2008.08.009. PMC 2598775. PMID 18778781.
Lightbody AA, Reiss AL (2009). "Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies". Developmental Disabilities Research Reviews. 15 (4). Wiley: 343–352. doi:10.1002/ddrr.77. OCLC 175296472. PMC 4354896. PMID 20014368.
Bourgeois JA, Cogswell JB, Hessl D, Zhang L, Ono MY, Tassone F, et al. (2007). "Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome". General Hospital Psychiatry. 29 (4): 349–356. doi:10.1016/j.genhosppsych.2007.03.003. PMC 3991490. PMID 17591512.
Berry-Kravis E, Raspa M, Loggin-Hester L, Bishop E, Holiday D, Bailey DB (November 2010). "Seizures in fragile X syndrome: characteristics and comorbid diagnoses". American Journal on Intellectual and Developmental Disabilities. 115 (6): 461–472. doi:10.1352/1944-7558-115.6.461. PMID 20945999.
Peprah E (March 2012). "Fragile X syndrome: the FMR1 CGG repeat distribution among world populations". Annals of Human Genetics. 76 (2): 178–191. doi:10.1111/j.1469-1809.2011.00694.x. PMC 3288311. PMID 22188182.
Cornish KM, Kogan CS, Li L, Turk J, Jacquemont S, Hagerman RJ (April 2009). "Lifespan changes in working memory in fragile X premutation males". Brain and Cognition. 69 (3): 551–558. doi:10.1016/j.bandc.2008.11.006. PMC 4158922. PMID 19114290.
Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, Paquin JJ, et al. (February 2005). "Association of FMR1 repeat size with ovarian dysfunction". Human Reproduction. 20 (2): 402–412. doi:10.1093/humrep/deh635. PMID 15608041.
Allen EG, Charen K, Hipp HS, Shubeck L, Amin A, He W, et al. (September 2021). "Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size". Genetics in Medicine. 23 (9): 1648–1655. doi:10.1038/s41436-021-01177-y. PMC 8460441. PMID 33927378.
Bibi G, Malcov M, Yuval Y, Reches A, Ben-Yosef D, Almog B, et al. (August 2010). "The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis". Fertility and Sterility. 94 (3): 869–874. doi:10.1016/j.fertnstert.2009.04.047. PMID 19481741.
Sherman SL, Curnow EC, Easley CA, Jin P, Hukema RK, Tejada MI, et al. (2014). "Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)". Journal of Neurodevelopmental Disorders. 6 (1): 26. doi:10.1186/1866-1955-6-26. PMC 4139715. PMID 25147583.
Hipp HS, Charen KH, Spencer JB, Allen EG, Sherman SL (September 2016). "Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI)". Menopause. 23 (9): 993–999. doi:10.1097/GME.0000000000000658. PMC 4998843. PMID 27552334.
Alpatov R, Lesch BJ, Nakamoto-Kinoshita M, Blanco A, Chen S, Stützer A, et al. (May 2014). "A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response". Cell. 157 (4): 869–881. doi:10.1016/j.cell.2014.03.040. PMC 4038154. PMID 24813610.
Dockendorff TC, Labrador M (January 2019). "The Fragile X Protein and Genome Function". Molecular Neurobiology. 56 (1): 711–721. doi:10.1007/s12035-018-1122-9. PMID 29796988. S2CID 44159474.
Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, et al. (2001). "Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee". Genetics in Medicine. 3 (3): 200–205. doi:10.1097/00125817-200105000-00010. PMC 3110344. PMID 11388762.
Nolin SL, Brown WT, Glicksman A, Houck GE, Gargano AD, Sullivan A, et al. (February 2003). "Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles". American Journal of Human Genetics. 72 (2): 454–464. doi:10.1086/367713. PMC 379237. PMID 12529854.
Colak D, Zaninovic N, Cohen MS, Rosenwaks Z, Yang WY, Gerhardt J, et al. (February 2014). "Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome". Science. 343 (6174): 1002–1005. Bibcode:2014Sci...343.1002C. doi:10.1126/science.1245831. PMC 4357282. PMID 24578575.
Sitzmann AF, Hagelstrom RT, Tassone F, Hagerman RJ, Butler MG (January 2018). "Rare FMR1 gene mutations causing fragile X syndrome: A review". American Journal of Medical Genetics. Part A. 176 (1): 11–18. doi:10.1002/ajmg.a.38504. PMC 6697153. PMID 29178241.
Loomis EW, Eid JS, Peluso P, Yin J, Hickey L, Rank D, et al. (January 2013). "Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene". Genome Research. 23 (1): 121–128. doi:10.1101/gr.141705.112. PMC 3530672. PMID 23064752.
Dobyns WB, Filauro A, Tomson BN, Chan AS, Ho AW, Ting NT, et al. (August 2004). "Inheritance of most X-linked traits is not dominant or recessive, just X-linked". American Journal of Medical Genetics. Part A. 129A (2): 136–143. doi:10.1002/ajmg.a.30123. PMID 15316978. S2CID 42108591.
Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, et al. (1985). "Further segregation analysis of the fragile X syndrome with special reference to transmitting males". Human Genetics. 69 (4): 289–299. doi:10.1007/BF00291644. PMID 3838733. S2CID 23299935.
Marco EJ, Skuse DH (December 2006). "Autism-lessons from the X chromosome". Social Cognitive and Affective Neuroscience. 1 (3): 183–193. doi:10.1093/scan/nsl028. PMC 2555419. PMID 18985105.
Usdin K, House NC, Freudenreich CH (2015). "Repeat instability during DNA repair: Insights from model systems". Critical Reviews in Biochemistry and Molecular Biology. 50 (2): 142–167. doi:10.3109/10409238.2014.999192. PMC 4454471. PMID 25608779.
Mineur YS, Sluyter F, de Wit S, Oostra BA, Crusio WE (2002). "Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse". Hippocampus. 12 (1): 39–46. doi:10.1002/hipo.10005. ISSN 1050-9631. PMID 11918286. S2CID 35472224.
Bassell GJ, Warren ST (October 2008). "Fragile X syndrome: loss of local mRNA regulation alters synaptic development and function". Neuron. 60 (2): 201–214. doi:10.1016/j.neuron.2008.10.004. PMC 3691995. PMID 18957214.
Bureau I, Shepherd GM, Svoboda K (May 2008). "Circuit and plasticity defects in the developing somatosensory cortex of FMR1 knock-out mice". The Journal of Neuroscience. 28 (20): 5178–5188. doi:10.1523/JNEUROSCI.1076-08.2008. PMC 2696604. PMID 18480274.
Haberl MG, Zerbi V, Veltien A, Ginger M, Heerschap A, Frick A (November 2015). "Structural-functional connectivity deficits of neocortical circuits in the Fmr1 (-/y) mouse model of autism". Science Advances. 1 (10): e1500775. Bibcode:2015SciA....1E0775H. doi:10.1126/sciadv.1500775. PMC 4681325. PMID 26702437.
Mitchell DE, Miranda-Rottmann S, Blanchard MG, Araya R (January 2023). "Altered integration of excitatory inputs onto the basal dendrites of layer 5 pyramidal neurons in a mouse model of Fragile X Syndrome". PNAS. 120 (2): e2208963120. Bibcode:2023PNAS..12008963M. doi:10.1073/pnas.2208963120. PMC 9926222. PMID 36595706.
Hogan AJ (June 2012). "Visualizing carrier status: fragile X syndrome and genetic diagnosis since the 1940s". Endeavour. 36 (2): 77–84. doi:10.1016/j.endeavour.2011.12.002. PMID 22257912. Archived from the original on 2019-11-05. Retrieved 2018-04-20.
Hagerman RJ, Berry-Kravis E, Kaufmann WE, Ono MY, Tartaglia N, Lachiewicz A, et al. (January 2009). "Advances in the treatment of fragile X syndrome". Pediatrics. 123 (1): 378–390. doi:10.1542/peds.2008-0317. PMC 2888470. PMID 19117905.
Rueda JR, Ballesteros J, Guillen V, Tejada MI, Solà I (May 2011). "Folic acid for fragile X syndrome". The Cochrane Database of Systematic Reviews (5): CD008476. doi:10.1002/14651858.CD008476.pub2. PMID 21563169.
Gantois I, Popic J, Khoutorsky A, Sonenberg N (January 2019). "Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders". Annual Review of Medicine. 70: 167–181. doi:10.1146/annurev-med-081117-041238. PMID 30365357. S2CID 53093694.
Rueda JR, Ballesteros J, Tejada MI (October 2009). "Systematic review of pharmacological treatments in fragile X syndrome". BMC Neurology. 9: 53. doi:10.1186/1471-2377-9-53. PMC 2770029. PMID 19822023.
Coppus AM (2013-08-01). "People with intellectual disability: what do we know about adulthood and life expectancy?". Developmental Disabilities Research Reviews. 18 (1): 6–16. doi:10.1002/ddrr.1123. PMID 23949824.
Duy PQ, Budimirovic DB (January 2017). "Fragile X Syndrome: Lessons Learned from the Most Translated Neurodevelopmental Disorder in Clinical Trials". Translational Neuroscience. 8 (1): 7–8. doi:10.1515/tnsci-2017-0002. PMC 5382936. PMID 28400977.
Dölen G, Osterweil E, Rao BS, Smith GB, Auerbach BD, Chattarji S, Bear MF (December 2007). "Correction of fragile X syndrome in mice". Neuron. 56 (6): 955–962. doi:10.1016/j.neuron.2007.12.001. PMC 2199268. PMID 18093519.
Dölen G, Carpenter RL, Ocain TD, Bear MF (July 2010). "Mechanism-based approaches to treating fragile X". Pharmacology & Therapeutics. 127 (1): 78–93. doi:10.1016/j.pharmthera.2010.02.008. PMID 20303363.
Cole P (2012). "Mavoglurant". Drugs of the Future. 37 (1): 7–12. doi:10.1358/dof.2012.037.01.1772147. S2CID 258330291.
Martin JP, Bell J (July 1943). "A Pedigree of Mental Defect Showing Sex-Linkage". Journal of Neurology and Psychiatry. 6 (3–4): 154–157. doi:10.1136/jnnp.6.3-4.154. PMC 1090429. PMID 21611430.

dx.doi.org

Mineur YS, Sluyter F, de Wit S, Oostra BA, Crusio WE (2002). "Behavioral and neuroanatomical characterization of the Fmr1 knockout mouse". Hippocampus. 12 (1): 39–46. doi:10.1002/hipo.10005. ISSN 1050-9631. PMID 11918286. S2CID 35472224.

fragilex.org.uk

"Fragile X and Autism | Fragile X Society | UK". fragilex. Retrieved 2022-09-07.

fraxa.org

"FRAXA Member Update (three issues: Spring 1999, Summer 1999, Fall 1999)" (PDF) (newsletter). Newburyport, Massachusetts: FRAXA Research Foundation. Archived (PDF) from the original on 2010-12-15. Retrieved 2017-12-14.

harvard.edu

ui.adsabs.harvard.edu

Pietropaolo S, Guilleminot A, Martin B, D'Amato FR, Crusio WE (February 2011). "Genetic-background modulation of core and variable autistic-like symptoms in Fmr1 knock-out mice". PLOS ONE. 6 (2): e17073. Bibcode:2011PLoSO...617073P. doi:10.1371/journal.pone.0017073. PMC 3043074. PMID 21364941.
Colak D, Zaninovic N, Cohen MS, Rosenwaks Z, Yang WY, Gerhardt J, et al. (February 2014). "Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome". Science. 343 (6174): 1002–1005. Bibcode:2014Sci...343.1002C. doi:10.1126/science.1245831. PMC 4357282. PMID 24578575.
Haberl MG, Zerbi V, Veltien A, Ginger M, Heerschap A, Frick A (November 2015). "Structural-functional connectivity deficits of neocortical circuits in the Fmr1 (-/y) mouse model of autism". Science Advances. 1 (10): e1500775. Bibcode:2015SciA....1E0775H. doi:10.1126/sciadv.1500775. PMC 4681325. PMID 26702437.
Mitchell DE, Miranda-Rottmann S, Blanchard MG, Araya R (January 2023). "Altered integration of excitatory inputs onto the basal dendrites of layer 5 pyramidal neurons in a mouse model of Fragile X Syndrome". PNAS. 120 (2): e2208963120. Bibcode:2023PNAS..12008963M. doi:10.1073/pnas.2208963120. PMC 9926222. PMID 36595706.

mcgill.ca

escholarship.mcgill.ca

Gantois I, Popic J, Khoutorsky A, Sonenberg N (January 2019). "Metformin for Treatment of Fragile X Syndrome and Other Neurological Disorders". Annual Review of Medicine. 70: 167–181. doi:10.1146/annurev-med-081117-041238. PMID 30365357. S2CID 53093694.

nih.gov

pubmed.ncbi.nlm.nih.gov

Raspa M, Wheeler AC, Riley C (June 2017). "Public Health Literature Review of Fragile X Syndrome". Pediatrics. 139 (Suppl 3): S153 – S171. doi:10.1542/peds.2016-1159C. PMC 5621610. PMID 28814537.
Friedman JM, Howard-Peebles PN (1986). "Inheritance of fragile X syndrome: an hypothesis". American Journal of Medical Genetics. 23 (1–2): 701–713. doi:10.1002/ajmg.1320230161. PMID 3006493. Retrieved 10 November 2024.
McLennan Y, Polussa J, Tassone F, Hagerman R (May 2011). "Fragile x syndrome". Current Genomics. 12 (3): 216–224. doi:10.2174/138920211795677886. PMC 3137006. PMID 22043169.
Garber KB, Visootsak J, Warren ST (June 2008). "Fragile X syndrome". European Journal of Human Genetics. 16 (6): 666–672. doi:10.1038/ejhg.2008.61. PMC 4369150. PMID 18398441.
Santoro MR, Bray SM, Warren ST (2012). "Molecular mechanisms of fragile X syndrome: a twenty-year perspective". Annual Review of Pathology. 7: 219–245. doi:10.1146/annurev-pathol-011811-132457. PMID 22017584.
Bartholomay KL, Lee CH, Bruno JL, Lightbody AA, Reiss AL (January 2019). "Closing the Gender Gap in Fragile X Syndrome: Review on Females with FXS and Preliminary Research Findings". Brain Sciences. 9 (1): 11. doi:10.3390/brainsci9010011. PMC 6356553. PMID 30642066.
Hall SS, Burns DD, Lightbody AA, Reiss AL (August 2008). "Longitudinal changes in intellectual development in children with Fragile X syndrome". Journal of Abnormal Child Psychology. 36 (6): 927–939. doi:10.1007/s10802-008-9223-y. PMC 4820329. PMID 18347972.
Budimirovic DB, Kaufmann WE (2011). "What can we learn about autism from studying fragile X syndrome?". Developmental Neuroscience. 33 (5): 379–394. doi:10.1159/000330213. PMC 3254037. PMID 21893949.
Pietropaolo S, Guilleminot A, Martin B, D'Amato FR, Crusio WE (February 2011). "Genetic-background modulation of core and variable autistic-like symptoms in Fmr1 knock-out mice". PLOS ONE. 6 (2): e17073. Bibcode:2011PLoSO...617073P. doi:10.1371/journal.pone.0017073. PMC 3043074. PMID 21364941.
Bernardet M, Crusio WE (September 2006). "Fmr1 KO mice as a possible model of autistic features". TheScientificWorldJournal. 6: 1164–1176. doi:10.1100/tsw.2006.220. PMC 5917219. PMID 16998604.
Mineur YS, Huynh LX, Crusio WE (March 2006). "Social behavior deficits in the Fmr1 mutant mouse". Behavioural Brain Research. 168 (1): 172–175. doi:10.1016/j.bbr.2005.11.004. PMID 16343653. S2CID 45731129.
Spencer CM, Alekseyenko O, Hamilton SM, Thomas AM, Serysheva E, Yuva-Paylor LA, Paylor R (February 2011). "Modifying behavioral phenotypes in Fmr1KO mice: genetic background differences reveal autistic-like responses". Autism Research. 4 (1): 40–56. doi:10.1002/aur.168. PMC 3059810. PMID 21268289.
Spencer CM, Graham DF, Yuva-Paylor LA, Nelson DL, Paylor R (June 2008). "Social behavior in Fmr1 knockout mice carrying a human FMR1 transgene". Behavioral Neuroscience. 122 (3): 710–715. doi:10.1037/0735-7044.122.3.710. PMID 18513141.
Tranfaglia MR (2011). "The psychiatric presentation of fragile x: evolution of the diagnosis and treatment of the psychiatric comorbidities of fragile X syndrome". Developmental Neuroscience. 33 (5): 337–348. doi:10.1159/000329421. PMID 21893938. S2CID 207554509.
Holsen LM, Dalton KM, Johnstone T, Davidson RJ (November 2008). "Prefrontal social cognition network dysfunction underlying face encoding and social anxiety in fragile X syndrome". NeuroImage. 43 (3): 592–604. doi:10.1016/j.neuroimage.2008.08.009. PMC 2598775. PMID 18778781.
Lightbody AA, Reiss AL (2009). "Gene, brain, and behavior relationships in fragile X syndrome: evidence from neuroimaging studies". Developmental Disabilities Research Reviews. 15 (4). Wiley: 343–352. doi:10.1002/ddrr.77. OCLC 175296472. PMC 4354896. PMID 20014368.
Bourgeois JA, Cogswell JB, Hessl D, Zhang L, Ono MY, Tassone F, et al. (2007). "Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome". General Hospital Psychiatry. 29 (4): 349–356. doi:10.1016/j.genhosppsych.2007.03.003. PMC 3991490. PMID 17591512.
Berry-Kravis E, Raspa M, Loggin-Hester L, Bishop E, Holiday D, Bailey DB (November 2010). "Seizures in fragile X syndrome: characteristics and comorbid diagnoses". American Journal on Intellectual and Developmental Disabilities. 115 (6): 461–472. doi:10.1352/1944-7558-115.6.461. PMID 20945999.
Peprah E (March 2012). "Fragile X syndrome: the FMR1 CGG repeat distribution among world populations". Annals of Human Genetics. 76 (2): 178–191. doi:10.1111/j.1469-1809.2011.00694.x. PMC 3288311. PMID 22188182.
Cornish KM, Kogan CS, Li L, Turk J, Jacquemont S, Hagerman RJ (April 2009). "Lifespan changes in working memory in fragile X premutation males". Brain and Cognition. 69 (3): 551–558. doi:10.1016/j.bandc.2008.11.006. PMC 4158922. PMID 19114290.
Sullivan AK, Marcus M, Epstein MP, Allen EG, Anido AE, Paquin JJ, et al. (February 2005). "Association of FMR1 repeat size with ovarian dysfunction". Human Reproduction. 20 (2): 402–412. doi:10.1093/humrep/deh635. PMID 15608041.
Allen EG, Charen K, Hipp HS, Shubeck L, Amin A, He W, et al. (September 2021). "Refining the risk for fragile X-associated primary ovarian insufficiency (FXPOI) by FMR1 CGG repeat size". Genetics in Medicine. 23 (9): 1648–1655. doi:10.1038/s41436-021-01177-y. PMC 8460441. PMID 33927378.
Bibi G, Malcov M, Yuval Y, Reches A, Ben-Yosef D, Almog B, et al. (August 2010). "The effect of CGG repeat number on ovarian response among fragile X premutation carriers undergoing preimplantation genetic diagnosis". Fertility and Sterility. 94 (3): 869–874. doi:10.1016/j.fertnstert.2009.04.047. PMID 19481741.
Sherman SL, Curnow EC, Easley CA, Jin P, Hukema RK, Tejada MI, et al. (2014). "Use of model systems to understand the etiology of fragile X-associated primary ovarian insufficiency (FXPOI)". Journal of Neurodevelopmental Disorders. 6 (1): 26. doi:10.1186/1866-1955-6-26. PMC 4139715. PMID 25147583.
Hipp HS, Charen KH, Spencer JB, Allen EG, Sherman SL (September 2016). "Reproductive and gynecologic care of women with fragile X primary ovarian insufficiency (FXPOI)". Menopause. 23 (9): 993–999. doi:10.1097/GME.0000000000000658. PMC 4998843. PMID 27552334.
Alpatov R, Lesch BJ, Nakamoto-Kinoshita M, Blanco A, Chen S, Stützer A, et al. (May 2014). "A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response". Cell. 157 (4): 869–881. doi:10.1016/j.cell.2014.03.040. PMC 4038154. PMID 24813610.
Dockendorff TC, Labrador M (January 2019). "The Fragile X Protein and Genome Function". Molecular Neurobiology. 56 (1): 711–721. doi:10.1007/s12035-018-1122-9. PMID 29796988. S2CID 44159474.
Maddalena A, Richards CS, McGinniss MJ, Brothman A, Desnick RJ, Grier RE, et al. (2001). "Technical standards and guidelines for fragile X: the first of a series of disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics. Quality Assurance Subcommittee of the Laboratory Practice Committee". Genetics in Medicine. 3 (3): 200–205. doi:10.1097/00125817-200105000-00010. PMC 3110344. PMID 11388762.
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