11.07.2015 Views

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

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

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

SHOW MORE
SHOW LESS

You also want an ePaper? Increase the reach of your titles

YUMPU automatically turns print PDFs into web optimized ePapers that Google loves.

He<strong>al</strong>th Technology Assessment 1997; Vol. 1: No. 4Hull C, Hagerman RJ, 1993. A study of the physic<strong>al</strong>,behavior<strong>al</strong>, and medic<strong>al</strong> phenotype, includinganthropom<strong>et</strong>ric measures, of fem<strong>al</strong>es with fragileX syndrome. Am J Dis Children;147:1236–41.Hulten M, Armstrong S, Barlow A, <strong>et</strong> <strong>al</strong>, 1995. Germ-linemosaicism investigations in the fragile X syndrome.British Medic<strong>al</strong> Gen<strong>et</strong>ics Conference 1995; Abstract 123.Huntington’s Disease Collaborative Research Group,1993. A novel gene containing a trinucleotide repeatthat is expanded and unstable on Huntington’s diseasechromosomes. Cell;72:971–83.Iida T, Nakahori Y, Tsutsumi O, Tak<strong>et</strong>ani Y, Nakagome Y,1994. The CpG island of the FMR-1 gene is m<strong>et</strong>hylateddifferently among embryonic tissues: implication <strong>for</strong>prenat<strong>al</strong> diagnosis. Human Repro;9:1471–3.Jacky PB, Ahuja YR, Anyane-Yeboa K, <strong>et</strong> <strong>al</strong>, 1991. Guidelines<strong>for</strong> the preparation and an<strong>al</strong>ysis of the fragile Xchromosome in lymphocytes. Am J Med Gen<strong>et</strong>ics;38:400–3.Jacobs PA, Mayer M, Abruzzo M, 1986a. Studies of thefragile (X) syndrome in populations of ment<strong>al</strong>ly r<strong>et</strong>ardedindividu<strong>al</strong>s in Hawaii. Am J Med Gen<strong>et</strong>ics;23:567–72.Jacobs PA, Sherman S, Turner G, Webb T, 1986b.The fragile X syndrome: the mutation problem.Am J Med Gen<strong>et</strong>ics;23:611–17.Jacobs PA, Bullman H, Macpherson J, <strong>et</strong> <strong>al</strong>, 1993.Population studies of the fragile X: a molecularapproach. J Med Gen<strong>et</strong>ics;30:454–9.Jenkins EC, Brown WT, Duncan CJ, <strong>et</strong> <strong>al</strong>, 1981.Feasibility of fragile X chromosome prenat<strong>al</strong>diagnosis demonstrated. Lanc<strong>et</strong>;ii:1292.Jenkins EC, Brown WT, Krawczun MS, <strong>et</strong> <strong>al</strong>, 1984a.Fra(X)(p22) not associated with infantile autism[l<strong>et</strong>ter]. Lanc<strong>et</strong>;ii:1397.Jenkins EC, Brown WT, Brooks J, Duncan CJ, Rudelli RD,Wisniewski HM, 1984b. Experience with prenat<strong>al</strong> fragileX d<strong>et</strong>ection. Am J Med Gen<strong>et</strong>ics;17:215–39.Jenkins EC, Krawczun MS, Brooks SE, Brooks SL,Sherman SL, Brown WT, 1991. Laboratory aspects ofprenat<strong>al</strong> fra(X) d<strong>et</strong>ection. Prog Clin Biol Res;368:27–42.Jenkins EC, Genovese MJ, Duncan CJ, <strong>et</strong> <strong>al</strong>, 1992.Fra(X)(q27.2), the common fragile site, observed inonly one of 760 cases studied <strong>for</strong> the fragile X syndrome.Am J Med Gen<strong>et</strong>ics;43:136–41.Jenkins EC, Genovese M, Duncan CJ, <strong>et</strong> <strong>al</strong>, 1994a.Occurrence of aneuploidy <strong>for</strong> the X chromosome inover 1300 unrelated specimens screened <strong>for</strong> the fragileX chromosome [l<strong>et</strong>ter]. Am J Med Gen<strong>et</strong>ics;51:452–3.Jenkins EC, Morys I, Henderson J, <strong>et</strong> <strong>al</strong>, 1994b. <strong>Fragile</strong> Xinduction systems in CVS cultures: effect on cytogen<strong>et</strong>ic,PCR, and genomic Southern blot DNA an<strong>al</strong>yses of theFMR-1 gene. Am J Med Gen<strong>et</strong>ics;51:436–42.Jenkins EC, Dobkin CS, Ding X, Li SY, Houck GE,Brown T, 1995a. Threshold CGG repeat size <strong>for</strong> fragilesite expression without m<strong>et</strong>hylation identified inlymphocyte lymphoblastoid and clon<strong>al</strong> lymphoblastoidcultures from an FMR1 unm<strong>et</strong>hylated mosaic fullmutation individu<strong>al</strong>. Am J Human Gen<strong>et</strong>ics;57(suppl):655.Jenkins EC, Houck GE, Ding XH, <strong>et</strong> <strong>al</strong>, 1995b. An updateon fragile-X prenat<strong>al</strong>-diagnosis – end of the cytogen<strong>et</strong>ictesting era. Dev Brain Dysfunction;8:293–301.Jennings M, H<strong>al</strong>l JG, Hoehn H, 1980. Significance ofphenotypic and chromosom<strong>al</strong> abnorm<strong>al</strong>ities in X-linkedment<strong>al</strong> r<strong>et</strong>ardation. Am J Med Gen<strong>et</strong>ics;7:417–32.Johnson JP, Curry C, Micek M, Louie E, Abrams L,Di<strong>et</strong>z L, 1995. Transmission of stable and unstablepremutations from great-grandmother and greatgrandfatherrespectively – lessons <strong>for</strong> gen<strong>et</strong>iccounselingin fragile-X syndrome families.Am J Human Gen<strong>et</strong>ics;57:1407.Kähkönen M, Leisti J, Wilska M, Varonen S, 1983. MarkerX-associated ment<strong>al</strong> r<strong>et</strong>ardation. A study of 150 r<strong>et</strong>ardedm<strong>al</strong>es. Clin Gen<strong>et</strong>ics;23:397–404.Kähkönen M, Alit<strong>al</strong>o T, Airaksinen E, <strong>et</strong> <strong>al</strong>, 1987.Prev<strong>al</strong>ence of the fragile X syndrome in fourbirth cohorts of children of school age. HumanGen<strong>et</strong>ics;77:85–7.Kaplan G, Kung M, McClure M, Cronister A, 1994. Directmutation an<strong>al</strong>ysis of 495 patients <strong>for</strong> fragile X carrierstatus/proband diagnosis. Am J Med Gen<strong>et</strong>ics;51:501–2.Keenan J, Kastner T, Nathanson R, Richardson N,Hinton J, Cress DA, 1992. A statewide public andprofession<strong>al</strong> education program on fragile X syndrome.Ment R<strong>et</strong>ard;30:355–61.Kemper MB, Hagerman RJ, Aktshul-Stark D, 1988.Cognitive profiles of boys with the fragile X syndrome.Am J Med Gen<strong>et</strong>ics;30:191–200.Kerby DS, Dawson BL, 1994. Autistic features,person<strong>al</strong>ity, and adaptive behavior in m<strong>al</strong>es withthe fragile X syndrome and no autism. Am J MentR<strong>et</strong>ard;98:455–62.Khandjian EW, Fortin A, Thibodeau A, <strong>et</strong> <strong>al</strong>, 1995.A h<strong>et</strong>erogeneous s<strong>et</strong> of FMR1 proteins is widelydistributed in mouse tissues and is modulated incell culture. Human Molec Gen<strong>et</strong>ics;4:783–9.Khandjian EW, Corbin F, Woerly S, Rousseau F, 1996.The fragile X ment<strong>al</strong> r<strong>et</strong>ardation protein is associatedwith ribosomes. Nature Gen<strong>et</strong>ics;12:91–-3.King RA, Hagerman RJ, Houghton M, 1995.Ocular findings in fragile-X syndrome. Dev BrainDysfunction;8:223–9.Kinnell HG, 1982. <strong>Fragile</strong>-X disorder associated withantisoci<strong>al</strong> person<strong>al</strong>ity [l<strong>et</strong>ter]. Lanc<strong>et</strong>;ii:1104.Kinnell HG, Banu SP, 1983. Institution<strong>al</strong> prev<strong>al</strong>enceof fragile X syndrome. Lanc<strong>et</strong>;ii:1427.Kirchgessner CU, Warren ST, Willard HF, 1995.X inactivation of the FMR1 fragile X ment<strong>al</strong>r<strong>et</strong>ardation gene. J Med Gen<strong>et</strong>ics;32:925–9.59

Hooray! Your file is uploaded and ready to be published.

Saved successfully!

Ooh no, something went wrong!