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

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Bibliography60Knight SJ, Flannery AV, Hirst MC, <strong>et</strong> <strong>al</strong>, 1993. Trinucleotiderepeat amplification and hyperm<strong>et</strong>hylation of a CpGisland in FRAXE ment<strong>al</strong> r<strong>et</strong>ardation. Cell;74:127–34.Knight SJL, Voelckel MA, Hirst MC, Flannery AV,Moncla A, Davies KE, 1994. Tripl<strong>et</strong> repeat expansion atthe FRAXE locus and X-linked mild ment<strong>al</strong> handicap.Am J Human Gen<strong>et</strong>ics;55:81–6.Koide R, Ikeuchi T, Onodera O, <strong>et</strong> <strong>al</strong>, 1994. Unstableexpansion of CAG repeat in hereditary dentatorubr<strong>al</strong>p<strong>al</strong>lidolusianatrophy (DRPLA). Nature Gen<strong>et</strong>ics;6:9–13.Kolehmainen K, 1994. Population gen<strong>et</strong>ics of fragile X: amultiple <strong>al</strong>lele model with variable risk of CGG repeatexpansion. Am J Med Gen<strong>et</strong>ics;51:428–35.Kolehmainen K, Karant Y, 1994. Modelling m<strong>et</strong>hylationand IQ scores in fragile X fem<strong>al</strong>es and mosaic m<strong>al</strong>es.Am J Med Gen<strong>et</strong>ics;51:328–38.Kondo I, 1995. Non-radioactive DNA diagnosis <strong>for</strong>the fragile-X syndrome in Japanese ment<strong>al</strong>ly-r<strong>et</strong>ardedm<strong>al</strong>es – comment. Brain Dev;17:323.Krawczun MS, Lele KP, Jenkins EC, Brown WT, 1986.<strong>Fragile</strong> X expression increased by low cell-culturedensity. Am J Med Gen<strong>et</strong>ics;23:467–73.Kremer EJ, Pritchard M, Lynch M, <strong>et</strong> <strong>al</strong>, 1991. Mappingof DNA instability at the fragile X to a trinucleotiderepeat sequence p(CCG)n. Science;252:1711–4.Kruyer H, Mila M, Glover G, Carbonell P, B<strong>al</strong>lesta F,Estivill X, 1994. <strong>Fragile</strong> X syndrome and the (CGG)nmutation: two families with discordant MZ twins.Am J Human Gen<strong>et</strong>ics;54:437–42.Kunst CB, Warren ST, 1994. Cryptic and polar variationof the fragile X repeat could result in predisposingnorm<strong>al</strong> <strong>al</strong>leles. Cell;77:853–61.Kunst CB, Zerylnick C, Karickhoff L, <strong>et</strong> <strong>al</strong>, 1996. FMR1in glob<strong>al</strong> populations. Am J Human Gen<strong>et</strong>ics;58:513–522.La Spada AR, Wilson EM, Lubahn DB, Harding AE,Fischbeck KH, 1991. Androgen receptor gene mutationsin X-linked spin<strong>al</strong> and bulbar muscular atrophy.Nature;352:77–9.Lachiewicz AM, Dawson DV, 1994a. Behavior problemsof young girls with fragile X syndrome: factor scoreson the Conners’ Parent’s Questionnaire. Am J MedGen<strong>et</strong>ics;51:364–9.Lachiewicz AM, Dawson DV, 1994b. Do young boyswith fragile X syndrome have macro-orchidism?Pediatrics;93:992–5.Lachiewicz AM, Gullion CM, Spiridigloizzi GA, AylsworthAS, 1987. Declining IQs of young m<strong>al</strong>es with the fragile Xsyndrome. Am J Ment R<strong>et</strong>ard;92:272–8.Laing S, Partington M, Robinson H, Turner G, 1991.Chemic<strong>al</strong> screening score <strong>for</strong> the fragile X (Martin–Bell)syndrome. Am J Med Gen<strong>et</strong>ics;38:256–9.Lamont MA, Dennis NR, Seabright M, 1986. Chromosomeabnorm<strong>al</strong>ities in pupils attending ESN/M schools.Arch Dis Childhood;61:223–6.Largo RH, Schinzel A, 1985. Development<strong>al</strong> andbehaviour<strong>al</strong> disturbances in 13 boys with fragileX syndrome. Eur J Ped;143:269–75.Lauria DP, Webb MJ, McKenzie P, Hagerman R, 1992.The economic impact of the fragile X syndrome onthe state of Colorado. In: Hagerman RJ, McKenzie P,editors. Proceedings of Internation<strong>al</strong> <strong>Fragile</strong>X Conference; chap 52:393–405.Lejeune J, 1982. Is the fragile X syndrome amenabl<strong>et</strong>o treatment? Lanc<strong>et</strong>;i:273–4.Lessick ML, 1993. Pediatric management problems.<strong>Fragile</strong> X syndrome. Ped Nursing;19:622–4.Levitas A, Hagerman RJ, Braden M, Rimland B, McBoggP, Matus I, 1983. Autism and the fragile X syndrome.Dev Behav Ped;4:151–8.Loehr JP, Synhorst DP, Wolfe RR, Hagerman RJ, 1986.Aortic root dilatation and mitr<strong>al</strong>-v<strong>al</strong>ve prolapse in thefragile-X syndrome. Am J Med Gen<strong>et</strong>ics;23:189–94.Loesch DZ, Lafranchi M, Scott D, 1988. Anthropom<strong>et</strong>ryin Martin–Bell syndrome. Am J Med Gen<strong>et</strong>ics;30:149–64.Loesch DZ, Huggins RM, Chin WF, 1993a. Effect offragile X on physic<strong>al</strong> and intellectu<strong>al</strong> traits estimatedby pedigree an<strong>al</strong>ysis. Am J Med Gen<strong>et</strong>ics;46:415–22.Loesch DZ, Sheffield LJ, Hay DA, 1993b. B<strong>et</strong>weengenerationdifferences in ascertainment and pen<strong>et</strong>rance:relevance to gen<strong>et</strong>ic hypotheses in fragile X. HumanGen<strong>et</strong>ics;91:469–74.Loesch DZ, Huggins R, Hay DA, Gedeon AK,Mulley JC, Sutherland GR, 1993c. Genotype-phenotyperelationships in fragile X syndrome: a family study.Am J Human Gen<strong>et</strong>ics;53:1064–73.Loesch DZ, Hay DA, Mulley J, 1994. Transmitting m<strong>al</strong>esand carrier fem<strong>al</strong>es in fragile X – revisited. Am J MedGen<strong>et</strong>ics;51:392–9.Loesch DZ, Huggins RM, Hoang NH, 1995. Growthin stature in fragile-X families – a mixed longitudin<strong>al</strong>study.Am J Med Gen<strong>et</strong>ics;58:249–56.Lubs HA, 1969. A marker X-chromosome.Am J Human Gen<strong>et</strong>ics;21:231–44.Lubs HA, Chiurazzi P, Arena JF, Schwartz C, TranebjaergL, Neri G, 1996. XLMR genes – update 1996. Am J MedGen<strong>et</strong>ics;64:147–57.Luo S, Robinson JC, Reiss AL, Migeon BR, 1993. DNAm<strong>et</strong>hylation of the fragile X locus in somatic and germcells during f<strong>et</strong><strong>al</strong> development: relevance to the fragileX syndrome and X inactivation. Somat Cell MolecGen<strong>et</strong>ics;19:393–404.Macpherson J, Harvey J, Curtis G, <strong>et</strong> <strong>al</strong>, 1992a.A reinvestigation of thirty three fragile(X) familiesusing probe StB12.3. Am J Med Gen<strong>et</strong>ics;43:905–12.Macpherson JN, Nelson DL, Jacobs PA, 1992b.Frequent sm<strong>al</strong>l amplifications in the FMR-1 genein fra(X) families: limits to the diagnosis of‘premutations’. J Med Gen<strong>et</strong>ics;29:802–6.

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