Below are the most recent publications written about "Fragile X Syndrome" by people in Profiles.
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Lubala TK, Kayembe-Kitenge T, Mubungu G, Lumaka A, Kanteng G, Savage S, Luboya O, Hagerman R, Devriendt K, Lukusa-Tshilobo P. Usefulness of automated image analysis for recognition of the fragile X syndrome gestalt in Congolese subjects. Eur J Med Genet. 2023 Sep; 66(9):104819.
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Ferreira CR, Xia ZJ, Cl?ment A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-S?nchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K, Nordgren A, Hammarsj? A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018 10 04; 103(4):553-567.
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Sun MK, Hongpaisan J, Alkon DL. Rescue of Synaptic Phenotypes and Spatial Memory in Young Fragile X Mice. J Pharmacol Exp Ther. 2016 May; 357(2):300-10.
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Sun MK, Hongpaisan J, Lim CS, Alkon DL. Bryostatin-1 restores hippocampal synapses and spatial learning and memory in adult fragile x mice. J Pharmacol Exp Ther. 2014 Jun; 349(3):393-401.
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Dickson PE, Corkill B, McKimm E, Miller MM, Calton MA, Goldowitz D, Blaha CD, Mittleman G. Effects of stimulus salience on touchscreen serial reversal learning in a mouse model of fragile X syndrome. Behav Brain Res. 2013 Sep 01; 252:126-35.
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Cizmeli C, Lobel M, Franasiak J, Pastore LM. Levels and associations among self-esteem, fertility distress, coping, and reaction to potentially being a genetic carrier in women with diminished ovarian reserve. Fertil Steril. 2013 Jun; 99(7):2037-44.e3.
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Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S. Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Obstet Gynecol. 2008 Mar; 111(3):596-601.
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Cronister A, DiMaio M, Mahoney MJ, Donnenfeld AE, Hallam S. Fragile X syndrome carrier screening in the prenatal genetic counseling setting. Genet Med. 2005 Apr; 7(4):246-50.
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Sundaram SK, Chugani HT, Chugani DC. Positron emission tomography methods with potential for increased understanding of mental retardation and developmental disabilities. Ment Retard Dev Disabil Res Rev. 2005; 11(4):325-30.
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Meyer GA, Blum NJ, Hitchcock W, Fortina P. Absence of the fragile X CGG trinucleotide repeat expansion in girls diagnosed with a pervasive developmental disorder. J Pediatr. 1998 Sep; 133(3):363-5.