Screening for Fragile X Syndrome (Murray et al.) - NIHR Journals ...

Health Technology Assessment 1997; Vol. 1: No. 4BibliographyThere are more than 500 papers on fragile X syndrome which we have consulted in detailwhile carrying out this systematic review. Not all of them are referred to directly in the report butthey all are listed here in alphabetical order. Other papers are referenced (e.g. on the risks ofamniocentesis) that do not relate to fragile X syndrome and these form a separate alphabeticallist at the end of this bibliography.Abrams MT, Reiss AL, 1995. Quantitative brainimaging studies of fragile-X syndrome. Dev BrainDysfunction;8(4–6):187–98.Abrams MT, Reiss AL, Freund LS, BaumgardnerTL, Chase GA, Denckla MB, 1994. Molecularneurobehavioralassociations in females with thefragile X full mutation. Am J Med Genetics;51:317–27.Abruzzo MA, Mayer M, Jacobs PA, 1985. The effect ofmethionine and 5-azacytidine on fragile X expression.Am J Human Genetics;37:193–8.Abruzzo MA, Hunt PA, Mayer M, Jacobs PA, Wang JC,Erbe R, 1986. A comparison of fragile X expression inlymphocyte and lymphoblastoid cultures. Am J HumanGenetics;38:533–9.American College of Medical Genetics, 1994. FragileX syndrome: diagnostic and carrier testing. Am J MedGenetics;53:380–1.Arinami T, Kondo I, Nakajima S, 1986. Frequency of thefragile X syndrome in Japanese mentally retarded males.Human Genetics;73:309–12.Arinami T, Asano M, Kobayashi K, Yanagi H, HamaguchiH, 1993. Data on the CGG repeat at the fragile X sitein the non-retarded Japanese population and familysuggest the presence of a subgroup of normal allelespredisposing to mutate. Human Genetics;92:431–6.Ashley AE, Sherman SL, 1995. Population dynamicsof a meiotic/mitotic expansion model for the fragileX syndrome. Am J Human Genetics;57:1414–25.Ashley CT Jr, Wilkinson KD, Reines D, Warren ST, 1993a.FMR1 protein: conserved RNP family domains andselective binding. Science;262:563–6.Ashley CT, Sutcliffe JS, Kunst CB, et al, 1993b. Humanand murine FMR-1: alternative splicing and translationalinitiation downstream of the CGG-repeat. NatureGenetics;4:244–51.Asthana JC, Sinha S, Haslam JS, Kingston HM, 1990.Survey of adolescents with severe intellectual handicap.Arch Dis Childhood;65:1133–6.Azofeifa J, Waldherr R, Cremer M, 1996. X-chromosomemethylation ratios as indicators of chromosomal activity:evidence of intraindividual divergencies among tissuesof different embryonal origin. Human Genetics;97:330–3.Bachner D, Manca A, Steinbach P, et al, 1993. Enhancedexpression of the murine FMR1 gene during germ cellproliferation suggests a special function in both the maleand the female gonad. Human Molec Genetics;2:2043–50.Bakker C, Degraaff E, Zhong N, Willemsen R, OostraB, 1995. Instability of the CGG repeat and expressionof FMR1 protein in a male-patient with a lung-tumor.Am J Human Genetics;57:1359.Barnicoat A, Docherty Z, Bobrow M, 1993. Wherehave all the fragile X boys gone? Dev Med ChildNeurology;35:532–9.Baumgardner TL, Reiss AL, Freund LS, Abrams MT,1995. Specification of the neurobehavioral phenotypein males with fragile X syndrome. Pediatrics;95:744–52.Bell MV, Hirst MC, Nakahori Y, et al, 1991. Physicalmapping across the fragile X: hypermethylationand clinical expression of the fragile X syndrome.Cell;64:861–6.Berry-Kravis E, Sklena P, 1993. Demonstrationof abnormal cyclic AMP production in plateletsfrom patients with fragile X syndrome. Am J MedGenetics;45:81–7.Berry-Kravis E, Hicar M, Ciurlionis R, 1995.Reduced cyclic-amp production in fragile-Xsyndrome – cytogenetic and molecular correlations.Ped Res;38:638–43.Billings P, Hubbard R, 1994. Fragile X testing: whobenefits? Genewatch;9:1–3.Black SH, 1994. Preimplantation genetic diagnosis[review]. Curr Opin Pediatrics;6:712–6.Blomquist HK, Gustavsion K, Holmgren G, NordensonI, Sweins A, 1982. Fragile site X chromosomes andX-linked mental retardation in severely retarded boysin a northern Swedish county. A prevalence study.Clin Genetics;21:209–14.Blomquist HK, Gustavson KH, Holmgren G, NordensonI, Palsson-Strae U, 1983. Fragile X syndrome in mildlymentally retarded children in a northern Swedish county.A prevalence study. Clin Genetics;24:393–8.Bodurtha J, Tams L, Jackson-Cook C, 1992. Prenatalgenetic counseling: what is fragile X [review]? VirginiaMed Quart;119(2):97–8.53