PartingtonMWRobinsonHLaingSTurnerG. Mortality in the fragile X syndrome: Preliminary data. Am J Med Genet1992;43:120–3.
2.
SimkoAHornsteinLSoukupSBagameryN. Fragile X syndrome: Recognition in young children. Pediatrics1989; 83:547–52.
3.
HagermanRJ.Physical and behavioural phenotype. In: HagermanRJSilvermanAC, eds. Fragile X syndrome: Diagnosis, treatment and research. Baltimore: Johns Hopkins University Press, 1991:3–69.
4.
PartingtonMW.The fragile X syndrome II: Preliminary data on growth and development in males. Am J Med Genet1984;17:175–94.
5.
SutherlandGRHechtF. Fragile sites on human chromosomes. New York: Oxford University Press, 1985.
6.
ButlerMGAllenGAHaynesJLSinghDNWatsonMSBregWR.Anthropometric comparison of mentally retarded males with and without the fragile X syndrome. Am J Med Genet1991;38:260–8.
7.
MeryashDLCronkCESacksBGeraldPS.An anthropmetric study of males with the fragile X syndrome. Am J Med Genet1984;17:159–74.
SchinzelALargoRH.The fragile X syndrome (Martin-Bell syndrome): Clinical and cytogenetic findings in 16 prepubertal boys and in 4 of their families. Helvetic Pediatrica Acta1985;40:133–52.
11.
StormRLPebenitoRFerrettiC. Ophthlamologic findings in the fragile X syndrome. Arch Ophthalmol1987;105:1099–102.
12.
MainoDMWessonMSchlangeDCibisGMainoJH.Optometric findings in the fragile X syndrome. Optom Vis Sci1991;68:634–40.
13.
KingRAHagermanRJHoughtonM. Ocular findings in fragile-X syndrome. Developmental Brain Dysfunction1995; 8:223–9.
14.
NielsonK BrøndumTommerupNDyggveHSchouC. Macro-orchidism, mental retardation and the fragile X [letter]. N Engl J Med1981;305:1348.
15.
NielsonK BrøndumTommerupNDyggveHSchouC. Macro-orchidism and fragile X mentally retarded males. Hum Genet1982;61:113–17.
16.
DavidsJRHagermanRJEilertRE.Orthopedic aspects of fragile-x syndrome. J Bone Joint Surg [Am]1990;72:889–96.
17.
HagermanRJ.Fragile X syndrome. Curr Probl Pediatr1987; 17:621–74.
18.
SimpsonNE.Dermatoglyphic indices of males with the fragile X syndrome and of the female heterozygotes. Am J Med Genet1986;23:171–8.
19.
de VriesBBARobinsonHStolte-DijkstraIGeneral overgrowth in the fragile X syndrome: Variability in the phenotypic expression of the FMR1 mutation. J Med Genet1995;32:764–9.
20.
LoeschDZHugginsRMHoangNH.Growth in stature in fragile-X families — a mixed longitudinal-study. Am J Med Genet1995;58:249–56.
21.
LoeschDZLafranchiMScottD. Anthropometry in Martin-Bell syndrome. Am J Med Genet1988;30:149–64.
22.
LoehrJPSynhorstDPWolfeRRHagermanRJ.Aortic root dilatation and mitral-valve prolapse in the fragile-X syndrome. Am J Med Genet1986;23:189–94.
23.
SreeramNWrenCBhateMRobertsonPHunterS. Cardiac abnormalities in the fragile X-syndrome. Br Heart J1989;61:289–91.
24.
NielsenK BrøndumTommerupNFriisBHjeltKHippeE. Diagnosis of the fragile X syndrome (Martin-Bell syndrome): Clinical findings in 27 males with the fragile site at Xq28. Journal of Mental Deficiency Research1983;27:211–22.
25.
MusumeciSAFerriRColognolaMNeirGSanfilippoSBergonziP. Prevalence of a novel epileptongenic EGG pattern in the Martin-Bell syndrome. Am J Med Genet1988;30:207–12.
26.
WisniewskiKESeganSMMiezejeskiCMSersenEARudelliRD.The fra(X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities. Am J Med Genet1991;38:476–80.
27.
ViereggePFroster-IskeniusU. Clinico-neurological investigations in the fraX form of mental retardation. J Neurol1989;236:85–92.
28.
MaesBFrynsJPVan WalleghemMVan den BergheH. Cognitive functioning and information processing of adult mentally retarded men with fragile-X syndrome. Am J Med Genet1994;50:190–200.
29.
RousseauFHeitzDTarletonJA multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: The first 2,253 cases. Am J Hum Genet1994;55:225–37.
30.
TaylorAKSafandaJFFallMZMolecular predictors of cognitive involvement in female carriers of fragile X syndrome. JAMA1994;271:507–14.
31.
FischGSArinamiTFroster-IskeniusURelationship between age and IQ among fragile X males: A multicenter study. Am J Med Genet1991;38:481–7.
32.
DykensEMHodappRMOrtSFinucaneBShapiroLRLeckmanJF.The trajectory of cognitive development in males with fragile X syndrome. J Am Acad Child Adolesc Psychiatry1989;28:422–6.
33.
HagermanRJSchreinerRAKemperMBWittenbergerMDZahnBHabichtK. Longitudinal IQ changes in fragile X males. Am J Med Genet1989;33:513–18.
34.
LachiewiczAMGullionCMSpiridigloizziGAAylsworthAS.Declining IQs of young males with the fragile X syndrome. Am J Ment Retard1987;92:272–8.
35.
HayDA.Does IQ decline with age in fragile-X? A methodological critique. Am J Med Genet1994;51:358–63.
36.
FischGS.What is associated with the fragile X syndrome? [review]. Am J Med Genet1993;48:112–21.
37.
EinfeldSHallS. Behavior phenotype of the fragile X syndrome. Am J Med Genet1992;43:56–60.
38.
FreundLSReissAL.Cognitive profiles associated with the fra(X) syndrome in males and females. Am J Med Genet1991;38:542–7.
39.
MiezejeskiCMJenkinsECHillALWisniewskiKFrenchJHBrownWT.A profile of cognitive deficit in females from fragile X families. Neuropsychologia1986;24:405–9.
40.
SudhalterVCohenILSilvermanWWolf-ScheinEG.Conversational analyses of males with fragile X, Down syndrome and autism: Comparison of the evergence of deviant language. Am J Ment Retard1990;94:431–41.
41.
SudhalterVMaranionMBrooksP. Expressive semantic deficit in the productive language of males with fragile X syndrome. Am J Med Genet1992;43:65–71.
42.
KemperMBHagermanRJAktshul-StarkD. Cognitive profiles of boys with the fragile X syndrome. Am J Med Genet1988;30:191–200.
43.
HagermanRJJacksonAWLevitasARimlandBBradenM. An analysis of autism in fifty males with fragile X syndrome. Am J Med Genet1986;23:359–74.
44.
WolffPHGardnerJPacciaJLappenJ. The greeting behaviour of fragile X males. Am J Ment Retard1989;93:406–11.
45.
BrownWTFriedmanEJenkinsECAssociation of fragile X syndrome with autism [letter]. Lancet.1982;i:100.
46.
MeryashDLSzymanskiLSGeraldPS.Infantile autism associated with the fragile-X syndrome. J Autism Dev Disord1982;12:295–301.
47.
LevitasAHagermanRJBradenMRimlandBMcBoggPMatusI. Autism and the fragile X syndrome. J Dev Behav Pediatr1983;4:151–8.
48.
EinfeldSMolonyHHallW. Autism is not associated with the fragile X syndrome. Am J Med Genet1989;34:187–93.
49.
FischGS.Is autism associated with the fragile X syndrome?Am J Med Genet1992;43:47–55.
50.
EinfeldSLTongeBJFlorioT. Behavioural and emotional disturbance in fragile X syndrome. Am J Med Genet1994;51:386–91.
51.
SchapiroMBMurphyDGMHagermanRJAdult fragile X syndrome: Neuropsychology, brain anatomy and metabolism. Am J Med Genet1995;60:480–93.
52.
CohenILVietzePMSudhulterVJenkinsECBrownWT.Parent-child dyadic gaze patterns in fragile X males and in non-fragile X males with autistic disorder. J Child Psychol Psychiatry1989;30:845–56.
53.
SudhalterVScarboroughHSCohenIL.Syntactic delay and pragmatic deviance in the language of fragile X males. Am J Med Genet1991;38:493–7.
54.
LargoRHSchinzelA. Developmental and behavioural disturbances in 13 boys with fragile X syndrome. Eur J Pediatr1985;143:269–75.
55.
FrynsJPKleczkowskaAKubienEVan den BergheH. Cytogenetic findings in moderate and severe mental retardation. A study of an institutionalized population of 1991 patients. Acta Paediatr Scand1984;Ss313:1–23.
56.
FinnelliPFPueschelSMPadre-MendozaTNeurological findings in patients with the fragile X syndrome. J Neurol Neurosurg Psychiatry1985;48:150–3.
57.
EinfeldSHallWLevyF. Hyperactivity and the fragile X syndrome. J Abnorm Child Psychol1991;19:253–62.
58.
TurkJ. The psychiatric, psychological and behavioural functioning of a British sample of boys with the fragile X syndrome. University of London, 1995. (MD thesis.).
59.
HagermanRJKemperMHudsonM. Learning disabilities and attentional problems in boys with the fragile X syndrome. Am J Dis Child1985;139:674–8.
60.
LejeuneJ. Is the fragile X syndrome amenable to treatment?Lancet1982;i:273–4.
61.
BrownWTJenkinsECFriedmanEFolic acid therapy in the fragile X syndrome. Am J Med Genet1984;17:289–97.
62.
BrownWTCohenILFischGSHigh dose folic acid treatment of fragile (X) males. Am J Med Genet1986;23:263–71.
63.
GillbergCWahlstromJJohanssonRTornblomMAlbertsson-WiklandK. Folic acid as an adjunct in the treatment of children with the autism fragile-X syndrome (AFRAX). Dev Med Child Neurol1986;28:624–7.
64.
FischGSCohenILGrossACJenkinsVJenkinsECBrownWT.Folic acid treatment of fragile X males: A further study. Am J Med Genet1988;30:393–9.
65.
StromCMBruscaRMPizziWJ.Double-blind, placebo-controlled crossover study of folinic acid (Leucovorin) for the treatment of fragile X syndrome. Am J Med Genet1992;44:676–82.
66.
TurkJ. The fragile X syndrome: Recent developments. Current Opinion in Psychology1992;2:677–82.
67.
HagermanRJMurphyMAWittenbergerMD.A controlled trial of stimulant medication in children with the fragile X syndrome. Am J Med Genet1988;30:377–92.
68.
HagermanRJRiddleJERobertsLSBreeseKFultonM. Survey of the efficacy of clonidine in fragile-X syndrome. Developmental Brain Dysfunction1995;8:336–44.
69.
MartinJPBellJ. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatry1943;6:154–7.
70.
LubsHA.A marker X-chromosome. Am J Hum Genet1969;21:231–14.
71.
SutherlandGR.Fragile sites on human chromsomes: Demonstration of their dependence on the type of tissue culture medium. Science1977;197:136–48.
72.
VerkerkAJPierettiMSutcliffeJSIdentification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell1991;65:905–14.
73.
ShermanSLMortonNEJacobsPATurnerG. The marker (X) syndrome: A cytogenetic and genetic analysis. Ann Hum Genet1984;48:21–37.
74.
WebbT. Delayed replication of Xq27 in individuals with the fragile X syndrome. Am J Med Genet1992;43:1057–62.
75.
HansenRSCanfieldTKLambMMGartlerSMLairdCD.Association of fragile X syndrome with delayed replication of the FMR1 gene. Cell1993;73:1403–9.
76.
SutherlandGRLedbetterDH.Report of the committe on cytogenetic markers. Cytogenet Cell Genet1989;15:452.
77.
SutherlandGRBakerE. Characterisation of a new rare fragile site easily confused with the fragile X. Hum Mol Genet1992;1:111–13.
78.
KnightSJFlanneryAVHirstMCTrinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell1993;74:127–34.
79.
KnightSJLVoelckelMAHirstMCFlanneryAVMonclaADaviesKE.Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am J Hum Genet1994;55:81–6.
80.
HamelBCSmitsAPde GraaffESegregation of FRAXE in a large family: Clinical, psychometric, cytogenetic, and molecular data. Am J Hum Genet1994;55:923–31.
81.
MulleyJCYuSLoeschDZFRAXE and mental retardation. J Med Genet1995;32:162–9.
82.
BullockSFelixCAButterworthMAStevensonKWilliamsD. The use of molecular DNA testing to distinguish between mutations at the fragile X-A and -E sites. J AM Genet1995;32:154.
83.
MurrayAYouingsSDennisNPopulation screening at the FRAXA and FRAXE loci: Molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet1996;5:727–35.
84.
SutherlandGRBakerE. The common fragile site in band Xq27 of the human X chromosome is not coincident with the fragile X. Clin Genet1990;37:167–72.
85.
HirstMCBarnicoatAFlynnG. The identification of a third fragile site, FRAXF in Xq27–28 distal to both FRAXA and FRAXE. Hum Mol Genet1993;2:197–200.
86.
ParrishJEOostraBAVerkerkAJIsolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat Genet1994;8:229–35.
87.
SoudekDPartingtonMWLawsonJS.The fragile X syndrome I: Familial variation in the proportion of lymphocytes with the fragile site in males. Am J Med Genet1984:17;241–52.
88.
HechtFFrynsJPVlietinckRFvan den BergheH. Genetic control over fragile X chromosome expression. Clin Genet1986;29:191–5.
89.
FischGSSilvermanWJenkinsEC.Genetic and other factors that contribute to variability in cytogenetic expression in fragile X males. Am J Med Genet1991;38:404–7.
90.
JackyPBAhujaYRAnyane-YeboaKGuidelines for the preparation and analysis of the fragile X chromosome in lymphocytes. Am J Med Genet1991;38:400–3.
91.
GloverTW.FUdR induction of the X chromosome fragile site: Evidence for the mechanism of folic acid and thymidine inhibition. Am J Hum Genet1981;33:234–42.
92.
CantuESNussbaumRLAirhartSDLedbetterDH.Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity. Am J Hum Genet1985;37:947–55.
93.
SutherlandGRBakerEFratiniA. Excess thymidine induces folate sensitive fragile sites. Am J Med Genet1985;22:433–43.
94.
KrawczunMSLeleKPJenkinsECBrownWT.Fragile X expression increased by low cell-culture density. Am J Med Genet1986;23:467–73.
95.
GustavsonKHDahlbomKFloodAHolmgremGBlomquistHKSannerG. Effect of folic acid treatment in the fragile X syndrome. Clin Genet1985;27;463–7.
96.
RousseauFHeitzDOberléIMandelJL.Selection in blood cells from female carriers of the fragile X syndrome: Inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J Med Genet1991;28:830–6.
97.
NielsonK BrøndumTommerupN. Cytogenetic investigation in mentally retarded and normal males from 14 families with the fragile site at Xq28: Results of folic acid treatment on fra(X) expression. Hum Genet1984;66:225–9.
98.
RichardsRISutherlandGR.Heritable unstable DNA sequences [news]. Nat Genet1992;1:7–9.
99.
KremerEJPritchardMLynchMMapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science1991;252:1711–14.
100.
FuYHKuhlDPPizzutiAVariation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell1991;67:1047–58.
101.
La SpadaARWilsonEMLubahnDBHardingAEFischbeckKH.Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature1991;352:77–99.
102.
BrookJDMcCurrachMEHarleyHGMolecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member. Cell1992;68:799–808.
103.
MahadevanMTsilfidisCSabourinLMyotonic dystrophy mutation: An unstable CTG repeat in the 3' untranslatedregion of the gene. Science1992;255:1253–5.
104.
FuYHPizzutiAFenwickRGAn unstable triplet repeat in a gene related to myotonic dystrophy. Science1992;255:1256–8.
105.
Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell1993;72:971–83.
106.
OrrHTChungM-YBanfiSExpansion of an unstable CAG repeat in spinocerebellar ataxia type 1. Nat Genet1993;4:221–6.
107.
KoideRIkeuchiTOnoderaOUnstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet1994;6:9–13.
108.
NagafuchiSYanagisawaHSatoKDentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12. Nat Genet1994;6:14–18.
109.
EichlerEERicharrdsSGibbsANelsonDL.Fine structure of the human FMR1 gene. Hum Mol Genet1993;2:1147–53.
110.
YuSMulleyJLoeschDFragile-X syndrome: Unique genetics of the heritable unstable element. Am J Hum Genet1992;50:968–80.
111.
CaskeyCTPizzutiAFuY-HFenwickRGNelsonDL.Triplet repeat mutations in human disease. Science1992;256:784–9.
112.
AshleyCTSutcliffeJSKunstCBHuman and murine FMR-1: Alternative splicing and translational initiation downstream of the CGG-repeat. Nat Genet1993;4:244–51.
113.
BellMVHirstMCNakahoriYPhysical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome. Cell1991;64:861–6.
114.
OberleIRousseauFHeitzDInstability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science1991;252:1097–102.
115.
VerheijCBakkerCEde GraaffECharacterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature1993;363:722–4.
116.
DevysDLutzYRouyerNBellocqJPMandelJL.The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet1993;4:335–10.
117.
BachnerDMancaASteinbachPEnhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad. Hum Mol Genet1993;2:2043–50.
118.
HindsHLAshleyCTSutcliffeJSTissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome. Nat Genet1993;3:36–43.
119.
VerheijCde GraaffEBakkerCECharacterisation of FMR1 proteins isolated from different tissues. Hum Mol Genet1995;4:895–901.
120.
SiomiHSiomiMCNussbaumRLDreyfussG. The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein. Cell1993;74:291–8.
121.
AshleyCTJrWilkinsonKDReinesDWarrenST.FMR1 protein: Conserved RNP family domains and selective binding. Science1993;262:563–6.
122.
FengYLakkisLDevysDWarrenST.Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet1995;56:106–13.
123.
KhandjianEWCorbinFWoerlySRousseauF. The fragile X mental retardation protein is associated with ribosomes. Nat Genet1996;12:91–3.
124.
GedeonAKBakerERobinsonHFragile X syndrome without CCG amplification has an FMR1 deletion. Nat Genet1992;1:341–4.
125.
WöhrleDKotzotDHirstMCA microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome. Am J Hum Genet1992;51:299–306.
126.
MeijerHde GraaffEMerckxDMA deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet1994;3:615–20.
127.
SnowKDoudLKHagermanRPergolizziRGErsterSHThibodeauSN.Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am J Hum Genet1993;53:1217–28.
128.
EichlerEEHoldenJJAPopovichBWLength of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet1994;8:88–94.
129.
HirstMCGrewalPKDaviesKE.Precursor arrays for triplet repeat expansion at the fragile X locus. Hum Mol Genet1994;3:1553–60.
130.
KunstCBWarrenST.Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell1994;77:853–61.
131.
SnowKTesterDJKruckebergKESchaidDJThibodeauSN.Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation. Hum Mol Genet1994;3:1543–51.
132.
DawsonAJChodirkerBNChudleyAE.Frequency of FMR1 premutations in a consecutive newborn population by PCR screening of Guthrie blood spots. Biochem Mol Med1995;56:63–9.
133.
EichlerEEHammondHAMacphersonJNWardPANelsonDL.Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum Mol Genet1995;4:2199–208.
134.
BrownWTNolinSHouckGPrenatal-diagnosis and carrier screening for fragile X by PCR. Am J Med Genet1996;64:191–5.
135.
KunstCBZerylnickCKarickhoffLFMR1 in global populations. Am J Hum Genet1996;58:513–22.
136.
BrownWTHouckGEJrJeziorowskaARapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA1993;270:1569–75.
137.
ArinamiTAsanoMKobayashiKYanagiHHamaguchiH. Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate. Hum Genet1993;92:431–6.
138.
YuSPritchardMKremerEFragile X genotype characterized by an unstable region of DNA. Science1991;252:1179–81.
139.
PierettiMZhangFPFuYHWarrenSTOostraBACaskeyCTNelsonDL.Absence of expression of the FMR-1 gene in fragile X syndrome. Cell1991;66:817–22.
140.
SutcliffeJSNelsonDLZhangFDNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet1992;1:397–400.
141.
RousseauFHeitzDBiancalanaVDirect diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med1991;325:1673–81.
142.
de VriesBBWiegersAMde GraaffEMental status and fragile X expression in relation to FMR-1 gene mutation. Eur J Hum Genet1993;1:72–9.
143.
HagermanRJHullCESafandaJFHigh functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet1994;51:298–308.
144.
VäisänenMLKähkönenMLeistiJ. Diagnosis of fragile X syndrome by direct mutation analysis. Hum Genet1994;93:143–7.
145.
NolinSLGlicksmanAHouckGEJrBrownWTDobkinCS.Mosaicism in fragile X affected males. Am J Med Genet1994;51:509–12.
146.
van den OuwelandAMDeelenWHKunstCBLoss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes. Hum Mol Genet1994;3:1823–7.
147.
LoeschDZHugginsRHayDAGedeonAKMulleyJCSutherlandGR.Genotype-phenotype relationships in fragile X syndrome: A family study. Am J Hum Genet1993;53:1064–73.
148.
McConkie-RosellALachiewiczAMSpiridigliozziGAEvidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Hum Genet1993;53:800–9.
149.
FengYZhangFLokeyLKChastainJLLakkisLEberhartDWarrenST.Translational suppression by trinucleotide repeat expansion at FMR1. Science1995;268:731–4.
150.
ReyniersEVitsLde BoulleKThe full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat Genet1993;4:143–6.
151.
de GraaffEWillemsenRZhongNInstability of the CGG repeat and expression of the FMR1 protein in a male fragile-X patient with a lung-tumor. Am J Hum Genet1995;57:609–18.
152.
MilaMCastell-VibelSSanchezALazaroCVillaMEstivillX. Mosaicism for the fragile-X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. J Med Genet1996;33:338–40.
153.
van den OuwelandAMde VriesBBBakkerPLDNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. Am J Med Genet1994;51:482–5.
154.
WöhrleDHirstMCKennerknechtIDaviesKESteinbachP. Genotype mosaicism in fragile X fetal tissues. Hum Genet1992;89:114–16.
155.
QuanFZonanaJGunterKPetersonKLMagenisREPopovichBW. An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene. Am J Hum Genet1995;56:1042–51.
156.
HartPSOlsonSMCrandallKTarletonJ. Fragile-X syndrome resulting from a 400 basepair deletion within the FMR1 gene. Am J Hum Genet1995;Ss57:1395.
157.
TrottierYImbertGPoustkaAFrynsJPMandelJL.Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region. Am J Med Genet1994;51:454–7.
158.
de GraaffERouillardPWillemsPJSmitsAPRousseauFOostraBA.Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients. Hum Mol Genet1995;4:45–9.
159.
de BoulleKVerkerkAJReyniersEA point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet1993;3:31–5.
160.
ReissALKazazianHHJrKrebsCMFrequency and stability of the fragile X premutation. Hum Mol Genet1994;3:393–8.
161.
SmitsASmeetsDHamelBDreesenJde HaanAvan OostB. Prediction of mental status in carriers of the fragile X mutation using CGG repeat length. Am J Med Genet1994;51:497–500.
162.
SteinbachPWöhrleDTariverdianGMolecular analysis of mutations in the gene FMR-1 segregating in fragile X families. Hum Genet1993;92:491–8.
163.
MazzoccoMMHagermanRJPenningtonBF.Problem solving limitations among cytogenetically expressing fragile X women. Am J Med Genet1992;43:78–86.
164.
MazzoccoMMPenningtonBFHagermanRJ.The neurocognitive phenotype of female carriers of fragile X: Additional evidence for specificity. J Dev Behav Pediatr1993;14:328–35.
165.
PuckJMStewartCCNussbaumRL.Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: Normal women versus carrier of X-linked severe combined immunodeficiency. Am J Hum Genet1992;50:742–8.
166.
FialkowBJ.Primordial cell pool size and lineage relationships of five human cell types. Ann Hum Genet1973;37:39–18.
167.
KirchgessnerCUWarrenSTWillardHF.X inactivation of the FMR1 fragile X mental retardation gene. J Med Genet1995;32:925–9.
168.
WatkissEWebbT. Comparison of methods for studying X inactivation status in females. J Med Genet1995;32:151.
169.
ReissALFreundLSBaumgardnerTLAbramsMTDencklaMB.Contribution of the FMR1 gene mutation to human intellectual dysfunction. Nat Genet1995;11:331–4.
170.
AzofeifaJWaldherrRCremerM. X-chromosome methylation ratios as indicators of chromosomal activity: Evidence of intraindividual divergencies among tissues of different embryonal origin. Hum Genet1996;97:330–3.
171.
FischGSSnowKThibodeauSNThe fragile X premutation in carriers and its effect on mutation size in offspring. Am J Hum Genet1995;56:1147–55.
172.
TizzanoEFBaigetM. High proportion of twins in carriers of fragile X syndrome. J Med Genet1992;29:599.
173.
TurnerGRobinsonHWakeSMartinN. Dizygous twinning and premature menopause in fragile X syndrome. Lancet1994;344:1500.
174.
SchwartzCEDeanJHoward-PeeblesPNObstetrical and gynecological complications in fragile X carriers: A multicenter study. Am J Med Genet1994;51:400–2.
175.
HullCHagermanRJ.A study of the physical, behavioral, and medical phenotype, including anthropometric measures, of females with fragile X syndrome. Am J Dis Child1993;147:1236–11.
176.
ConwayGSHettiarachchiSMurrayAJacobsPA.Fragile X premutations in familiial premature ovarian failure. Lancet1995;346:309–10.
177.
ReissALFreundLAbramsMTBoehmCKazazianH. Neurobehavioral effects of the fragile X premutation in adult women: A controlled study. Am J Hum Genet. 1993;52:884–94.
178.
ThompsonNMGulleyMLRogenessGANeurobehavioral characteristics of CGG amplification status in fragile X females. Am J Med Genet1994;54:378–83.
179.
SobeskyWEPenningtonBFPorterDHullCEHagermanRJ.Emotional and neurocognitive deficits in fragile X. Am J Med Genet1994;51:378–85.
180.
SteyaertJBorghgraefMFrynsJP.Apparently enhanced visual information processing in female fragile X carriers: Preliminary findings. Am J Med Genet1994;51:374–7.
181.
von KoskullHGahmbergNSalonenRSaloAPeippoM. FRAXA locus in fragile X diagnosis: Family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation. Am J Med Genet1994;51:486–9.
182.
MacphersonJHarveyJCurtisGA reinvestigation of thirty three fragile(X) families using probe StB12.3. Am J Med Genet1992;43:905–12.
183.
Mingroni-NettoRCFernandesJGVianna-MorganteAM.Relationship of expansion of CGG repeats and X-inactivation with expression of fra(X)(q27.3) in heterozygotes. Am J Med Genet1994;51:443–6.
184.
SnowKDoudLHagermanRAnalysis of mutations at the fragile X locus using the DNA probe Oxl.9. Am J Med Genet1992;43:244–54.
185.
WangQGreenEBarnicoatACytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome. Lancet1993;342:1025–6.
186.
HolmgrenGBlomquistHDruggeUGustavsonK. Fragile X families in a northern swedish county — a genealogical study demonstrating apparent paternal transmission from the 18th century. Am J Med Genet1988;30:673–9.
187.
SmitsAPDreesenJCPostJGThe fragile X syndrome: No evidence for any recent mutations. J Med Genet1993;30:94–6.
188.
OudetCvon KoskullHNordstromAMPeippoMMandelJL.Striking founder effect for the fragile X syndrome in Finland. Eur J Hum Genet1993;1:181–9.
189.
OudetCMornetESerreJLLinkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet1993;52:297–304.
190.
BuyleSReyniersEVitsLFounder effect in a Belgian-Dutch fragile X population. Hum Genet1993;92:269–72.
191.
MalmgrenHGustavsonKHOudetCHolmgrenGPetterssonUDahlN. Strong founder effect for the fragile X syndrome in Sweden. Eur J Hum Genet1994;2:103–9.
192.
MacphersonJNBullmanHYouingsSAJacobsPA.Insert size and flanking haplotype in fragile X and normal populations: Possible multiple origins for the fragile X mutation. Hum Mol Genet1994;3:399–105.
193.
RichardsRIKondoIHolmanKHaplotype analysis at the FRAXA locus in the Japanese population. Am J Med Genet1994;51:412–16.
194.
HaatajaRVäisänenMLLiMRyynänenMLeistiJ. The fragile X syndrome in Finland: Demonstration of a founder effect by analysis of microsatellite haplotypes. Hum Genet1994;94:479–83.
195.
ChiurazziPGenuardiMKozakLFragile-X founder chromosomes in Italy — a few initial events and possible explanation for their heterogeneity. Am J Med Genet1996;64:209–15.
196.
EichlerEEMacphersonJNMurrayAJacobsPAChakravartiANelsonDL.Haplotype and interspersion analysis of the FMR1 CGG repeat identifies 2 different mutational pathways for the origin of the fragile-X syndrome. Hum Mol Genet1996;5:319–30.
197.
ZhongNKajanojaESmitsBFragile-X founder effects and new mutations in Finland. Am J Med Genet1996;64:226–33.
198.
ZhongNYangWHDobkinCBrownWT.Fragile-X gene instability — anchoring AGGs and linked microsatellites. Am J Hum Genet1995;57:351–61.
199.
RichardsRISutherlandGR.Simple repeat DNA is not replicated simply. Nat Genet1994:6;114–16.
200.
ThommesPHubscherU. Eukaryotic DNA replication. Eur J Biochem1990;194:699–712.
201.
ChenXMariappanSVCatastiPHairpins are formed by the single DNA strands of the fragile X triplet repeats: Structure and biological implications. Proc Natl Acad Sci USA1995;92:5199–203.
202.
WöhrleDHennigIVogelWSteinbachP. Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat Genet1993;4:140–2.
203.
MalmgrenHSteen-BondesonMLGustavsonKHMethylation and mutation patterns in the fragile X syndrome. Am J Med Genet1992;43:268–78.
204.
KruyerHMilaMGloverGCarbonellPBallestaFEstivillX. Fragile X syndrome and the (CGG)n mutation: Two families with discordant MZ twins. Am J Hum Genet1994;54:437–42.
205.
KähkönenMLeistiJWilskaMVaronenS. Marker X-associated mental retardation. A study of 150 retarded males. Clin Genet1983;23:397–404.
206.
Froster-IskeniusUFelschGSchirrenCSchwingerE. Screening for fra(X)(q) in a population of mentally retarded males. Hum Genet1983;63:153–7.
207.
PaikaIJLaiFMcAllisterNMMillerWA.The fragile-X marker survey: Preliminary report on the screening of suspected fragile X syndrome patients at the Fernald State School. Am J Hum Genet1984;36:108S.
208.
ArinamiTKondoINakajimaS. Frequency of the fragile X syndrome in Japanese mentally retarded males. Hum Genet1986;73:309–12.
209.
HofsteeYArinamiTHamaguchiH. Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR-1 gene in Japanese mentally retarded individuals. Am J Med Genet1994;51:466–70.
210.
PrimroseDAEl-MatmatiRBoydEGosdenCNewtonM. Prevalence of the fragile X syndrome in an institution for the mentally handicapped. Br J Psychiatry1986;148:655–7.
211.
HagermanRBerryRJacksonAWCampbellJSmothACMMcGavranL. Institutional screening for the fragile X syndrome. Am J Dis Child1988;142:1216–21.
212.
NeriGSanfilippoSPavoneLThe fragile X in Sicily: An epidemiological survey. Am J Med Genet1988;30:665–72.
213.
ButlerMGSinghDN.Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile-X syndrome. J Intellect Disabil Res1993;37:131–2.
214.
MazurczakTBocianEMilewskiMFrequency of fra-X-syndrome among institutionalized mentally- retarded males in Poland. Am J Med Genet1996;64:184–6.
215.
GustavsonKBlomquistHHolmgrenG. Prevalence of the fragile X syndrome in mentally retarded boys in a Swedish county. Am J Med Genet1986;23:581–7.
216.
KähkönenMAlitaloTAiraksinenEPrevalence of the fragile X syndrome in four birth cohorts of children of school age. Hum Genet1987;77:85–7.
217.
TranebjaergLHillingSJessenJLindDHansenMS.Prevalence of fra(X) in the county of Funen in Denmark is lower than expected. Am J Med Genet1994;51:423–7.
218.
JacobsPABullmanHMacphersonJPopulation studies of the fragile X: A molecular approach. J Med Genet1993;30:454–9.
219.
MortonJEBundeySWebbTPMacDonaldFRindlPMBullockS. Fragile X syndrome is less common than previously estimated. J Med Genet1997;34:1–5.
220.
TurnerGWebbTWakeSRobinsonH. Prevalence of fragile X syndrome. Am J Med Genet1996;64:196–7.
221.
TurnerGRobinsonHLaingSPurvis-SmithS. Preventative screening for the fragile X syndrome. N Engl J Med1986;315:607–9.
222.
WebbTBundeySThakeAToddJ. The frequency of the fragile X chromosome among schoolchildren in Coventry. J Med Genet1986;23:396–9.
223.
TurnerGRobinsonHLaingSPopulation screening for fragile X. Lancet1992;339:1210–13.
224.
MooneyGLangeM. Antenatal screening: What constitutes benefit?Soc Sci Med1993;37:873–8.
225.
RoyJCJohnsenJBreeseKHagermanR. Fragile-x syndrome — what is the impact of diagnosis on families. Developmental Brain Dysfunction1995;8:327–35.
226.
PalomakiGE.Population based prenatal screening for the fragile X syndrome. J Med Screen1994;1:65–72.
227.
BrockDJ.Carrier screening for cystic fibrosis [review]. Prenat Diagn1994;13:1243–52.
228.
LaingSPartingtonMRobinsonMTurnerG. Clinical screening score for the fragile X (Martin-Bell) syndrome. Am J Med Genet1991;38:256–9.
229.
HagermanRJAmiriKCronisterA. Fragile X checklist. Am J Med Genet1991;38:283–7.
230.
ButlerMGMangrumTGuptaRSinghDN.A 15-item checklist for screening mentally retarded males for the fragile X syndrome. Clin Genet1991;39:347–54.
231.
NolinSLSniderDAJenkinsECFragile X screening program in New York State. Am J Med Genet1991;38:251–5.
232.
GabarronJLopezIGloverGCarbonellP. Fragile X screening program in a Spanish region. Am J Med Genet1992;43:333–8.
233.
HirstMCNakahoriYKnightSJGenotype prediction in the fragile X syndrome. J Med Genet1991;28:824–9.
234.
NakahoriYKnightSJHollandJMolecular heterogeneity of the fragile X syndrome. Nucleic Acids Res1991;19:4355–9.
235.
MulleyJCYuSGedeonAKExperience with direct molecular diagnosis of fragile X. J Med Genet1992;29:368–74.
236.
RousseauFHeitzDBiancalanaVOberléIMandelJL.On some technical aspects of direct DNA diagnosis of the fragile X syndrome. Am J Med Genet1992;43:197–207.
237.
El-AleemAABohmITemtamySDirect molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection. Hum Genet1995;96:577–84.
238.
PergolizziRGErsterSHGoonewardenaPBrownWT.Detection of full fragile X mutation. Lancet1992;339:271–2.
239.
ErsterSHBrownWTGoonewardenaPDobkinCSJenkinsECPergolizziRG.Polymerase chain reaction analysis of fragile X mutations. Hum Genet1992;90:55–61.
240.
NanbaEKohnoYMatsudaANonradioactive DNA diagnosis for the fragile-X syndrome in mentally-retarded Japanese males. Brain Dev1995;7:317–21.
241.
HaddadLAMingroni-NettoRCVianna-MorganteAMPenaSDJ.A PCR based test suitable for screening for fragile X syndrome among mentally retarded males. Hum Genet1996;97:808–12.
242.
WangQGreenEBobrowMMathewCG.A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet1995;32:170–3.
243.
HeitzDDevysDImbertGKretzCMandelJL.Inheritance of the fragile X syndrome: Size of the fragile X premutation is a major determinant of the transition to full mutation. J Med Genet1992;29:794–801.
244.
WillemsenRMohkamsingSDevriesBRapid antibody test for fragile-X syndrome. Lancet1995;345:1147–8.
245.
SchallingMHudsonTJBuetowKHHousmanDE.Direct detection of novel expanded trinucleotide repeats in the human genome. Nat Genet1993;4:135–9.
246.
JenkinsECBrownWTDuncanCJFeasibility of fragile X chromosome prenatal diagnosis demonstrated. Lancet1981;ii:1292.
247.
ShapiroLRWilmotPLBrenholzPPrenatal diagnosis of fragile X chromosome. Lancet1982;i:99–100.
248.
JenkinsECHouckGEDingXHAn update on fragile-X prenatal-diagnosis — end of the cytogenetic testing era. Developmental Brain Dysfunction1995;8:293–301.
249.
SutherlandGRGedeonAKornmanLPrenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. N Engl J Med1991;325:1720–2.
250.
IidaTNakahoriYTsutsumiOTaketaniYNakagomeY. The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: Implication for prenatal diagnosis. Hum Reprod1994;9:1471–3.
251.
Castellvi-BelSMilaMSolerAPrenatal-diagnosis of fragile-X syndrome-(CGG)n expansion and methylation of chorionic villus samples. Prenat Diagn1995;9:801–7.
252.
YamauchiMNagataSSekiNPrenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence. Clin Genet1993;44:169–72.
253.
JenkinsECMorysIHendersonJFragile X induction systems in CVS cultures: Effect on cytogenetic, PCR, and genomic Southern blot DNA analyses of the FMR-1 gene. Am J Med Genet1994;51:436–42.
254.
DevysDBiancalanaVRousseauFBoueJMandelJLOberléI. Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicates that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet1992;43:208–16.
255.
StrainLPorteousMEGosdenCMEllisPMNeilsonJPBonthronDT.Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation. Prenat Diagn1994;14:469–74.
256.
MaddalenaAHicksBDSpenceWCLevinsonGHoward-PeeblesPN.Prenatal diagnosis in known fragile X carriers. Am J Med Genet1994;51:490–6.
257.
DreesenJCFMGeraedtsJPMDumoulinJCMEversJLHPietersMHEC.RS46(DXS548) genotyping of reproductive cells: Approaching preimplantation testing of the fragile X syndrome. Hum Genet1995;96:323–9.
258.
Howard-PeeblesPNMaddalenaABlackSHLevinsonGBickDDSchulmanJD.Fragile X screening in pediatric and obstetrical patients. Developmental Brain Dysfunction1995;8:408–10.
259.
SpenceWCBlackSHFallonLMolecular fragile-X screening in normal-populations. Am J Med Genet1996;64:181–3.
260.
RobinsonHWakeSWrightFLaingSTurnerG. Informed choice in fragile-X syndrome and its effects on prevalence. Am J Med Genet1996;64:198–202.
261.
NolinSLSniderDAJenkinsECNew York State screening program for fragile X syndrome: A progress report. Am J Med Genet1992;43:328–32.
262.
RyynänenMKirkinenPMannermaaASaarikoskiS. Carrier diagnosis of the fragile X syndrome—a challenge in antenatal clinics. Am J Obstet Gynecol1995;172:1236–9.
263.
GrassoMPerroniLColellaSPrenatal diagnosis of 30 fetuses at risk for fragile-X-syndrome. Am J Med Genet1996;64:187–90.
264.
American College of Medical Genetics. Fragile X syndrome: Diagnostic and carrier testing. Am J Med Genet1994;53:380–1.
265.
KaplanGKungMMcClureMCronisterA. Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis. Am J Med Genet1994;51:501–2.
266.
BarnicoatADochertyZBobrowM. Where have all the fragile X boys gone?Dev Med Child Neurol1993;35:532–539.
267.
MandelJLBiancalanaVBoiuxJCCosseeM. Screening for the fragile X syndrome mental retardation syndrome. New Horiz Neonat Screen1994;1041:261–72.
268.
HagermanRJWilsonPStaleyLWEvaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing. Am J Med Genet1994;51:474–81.
269.
WinterRM.Population genetics implications of the premutation hypothesis for the generation of the fragile X mental. Hum Genet1987;75:269–71.
270.
SvedJALairdCD.Population genetic consequences of the fragile X syndrome, based on the X-inactivation imprinting model. Am J Hum Genet1990;46:443–51.
271.
MortonNEMacphersonJN.Population genetics of the fragile-X syndrome: Multiallelic model for the FMR1 locus. Proc Natl Acad Sci USA1992;89:4215–7.
272.
KolehmainenK. Population genetics of fragile X: A multiple allele model with variable risk of CGG repeat expansion. Am J Med Genet1994;51:428–35.
273.
AshleyAEShermanSL.Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome. Am J Hum Genet1995;57:1414–25.
274.
RousseauFRouillardPMorelMLKhandjianEWMorganN. Prevalence of carriers of premutation-size alleles of the FMR1 gene and implications for the population-genetics of the fragile-X syndrome. Am J Hum Genet1995; 57:1006–18.
275.
HoldenJJAChalifouxMWingMDistribution and frequency of FMR1 CGG repeat numbers in the general-population. Developmental Brain Dysfunction1995; 8:405–7.
276.
RousseauFMorelMLRouillardPKhandjianEWMorganK. Surprisingly low prevalence of FMR1 premutation among males from the general population. The National Fragile X Foundation Newletter, July 1996.
277.
ShermanSLMaddalenaAHoward-PeeblesPNCharacteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses. Am J Med Genet1994;51:503–6.
278.
RichardsRIHolmanKFriendKEvidence of founder chromosomes in fragile X syndrome. Nat Genet1992;1:257–60.
279.
ChakravartiA. Fragile X founder effect? [news]. Nat Genet1992;1:237–8.
280.
CuckleHSWaldNJ.Principles of screening. In: WaldN, ed. Antenatal and neonatal screening for disease. Oxford: Oxford University Press, 1984:1–22.
281.
WaldNJCuckleHS.Reporting the assessment of screening and diagnostic tests. Br J Obstet Gynaecol1989;96:389–96.
282.
CuckleH. Established markers in second trimester maternal serum. Early Hum Dev1996Ss47;s27–9.
283.
TaborAMadsenMObelEBPhilipJBangJNorgaard-PedersenB. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet1986;i:1287–92.
284.
Canadian Colaborative CVS-Amniocentesis Clinical Trial Group. Multicentre randomised clinical trial of chorionic villus sampling and amniocentesis. Lancet1989;i:1–6.
285.
RhoadsGGJacksonLGSchlesselmanSAThe safety and efficacy of chorionic villus sampling for early prenatal diagnosis of cytogenetic abnormalities. N Engl J Med1989;320:609–17.
286.
MRC Working Party on the Evaluation of Chorionic Villus Sampling. Medical Research Council European trial of chorionic villus sampling. Lancet1991:337:1491–9.
287.
Smidt-JensenSPerminMPhilipJRandomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling. Lancet1992;340:1237–44.
FrosterUGJacksonL. Limb defects and chorionic villus sampling: Results from an international registry, 1992–94. Lancet1996;347:489–94.
290.
GhinidiASepulvedaWLockwoodCJRomeroR. Complications of fetal blood sampling. Am J Obstet Gynecol1993;168:1339–4.
291.
McConkie-RosellARobinsonHWakeSStaleyLWHellerKCronisterA. Dissemination of genetic risk information to relatives in the fragile X syndrome: Guidelines for genetic counsellors. Am J Med Genet1995;59:426–30.
292.
Nuffield Council on Bioethics. Genetic screening: Ethical issues. London: Nuffield Council, 1993.
293.
LauriaDPWebbMJMcKenziePHagermanR. The economic impact of the fragile X syndrome on the state of Colorado. In: HagermanRJMcKenzieP, eds. Proceedings of International Fragile X Conference1992; chap 52:393–405.
294.
CuckleHSRichardsonGASheldonTAQuirkeP. Cost effectiveness of antenatal screening for cystic fibrosis. BMJ1995;311:1460–3.
295.
CuckleHQuirkePSehmiIAntenatal screening for cystic fibrosis. Br J Obstet Gynaecol1996;103:795–9.
296.
SheldonTASimpsonJ. Appraisal of a new scheme for prenatal screening for Down's syndrome. BMJ1991;302:1133–6.
297.
ShackleyPMcGuireABoydPAAn economic appraisal of alternative prenatal screening programmes for Down's syndrome. J Publ Health Med1993;15:175–84.
298.
PiggottMWilkinsonPBennettJ. Implementation of an antenatal serum screening programme for Down's syndrome in two districts (Brighton and Eastbourne). J Med Screen1994;1:45–9.
299.
ThorntonJLilfordRJ.Decision analysis for medical managers — assessment of screening tests. BMJ1995;310:791–1.
300.
NHS Central Research and Development Committee. The genetics of common diseases. Leeds: Department of Health, 1995.
301.
Department of Trade and Industry. Human genetics: The science and its consequences. London: HMSO, 1996.
302.
AbramsMTReissALFreundLSBaumgardnerTLChaseGADencklaMB.Molecular-neurobehavioral associations in females with the fragile X full mutation. Am J Med Genet1994;51:317–27.
AbruzzoMAMayerMJacobsPA.The effect of methionine and 5-azacytidine on fragile X expression. Am J Hum Genet1985;37:193–8.
305.
AbruzzoMAHuntPAMayerMJacobsPAWangJCErbeR. A comparison of fragile X expression in lymphocyte and lymphoblastoid cultures. Am J Hum Genet1986;38:533.
306.
AsthanaJCSinhaSHaslamJSKingstonHM.Survery of adolescents with severe intellectual handicap. Arch Dis Child1990;65:1133–6.
307.
BakkerCDegraaffEZhongNWillemsenROostraB. Instability of the CGG repeat and expression of FMR1 protein in a male-patient with a lung-tumor. Am J Hum Genet1995;57:1359.
308.
BaumgardnerTLReissALFreundLSAbramsMT.Specification of the neurobehavioural phenotype in males with fragile X syndrome. Pediatrics1995;95:744–52.
309.
Berry-KravisESklenaP. Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome. Am J Med Genet1993;45:81–7.
310.
Berry-KravisEHicarMCiurlionisR. Reduced cyclic-AMP production in fragile-X syndrome — cytogenetic and molecular correlations. Pediatr Res1995;38:638–43.
311.
BillingsPHubbardR. Fragile X testing: Who benefits?Gene Watch1994;9:1–3.
BlomquistHKGustavsionKHolmgrenGNordensonISweinsA. Fragile site X chromosomes and X-linked mental retardation in severely retarded boys in a northern Swedish county. A prevalence study. Clin Genet1982;21:209–14.
314.
BlomquistHKGustavsonKHHolmgrenGNordensonIPalsson-StraeU. Fragile X syndrome in mildly mentally retarded children in a northern Swedish county. A prevalence study. Clin Genet1983;24:393–8.
315.
BodurthaJTarnsLJackson-CookC. Prenatal genetic counseling: What is fragile X ? [review]. Va Med Q1992;119:97–8.
316.
BonthronDStrainL. Population screening for fragile-X syndrome. Lancet1993;341:769–70.
317.
BrainardSSSchreinerRAHagermanRJ.Cognitive profiles of the carrier fragile X woman. Am J Med Genet1991;38:505–8.
318.
BrownCABrasingtonCKGrassFS.Paternal transmission of a full mutation in the FMR1 gene — identification of paternal CGG repeat sizes in multiple tissues [abstract]. Am J Hum Genet1995;57:A335.
319.
BrownWTJenkinsECFriedmanEAutism is associated with the fragile-X syndrome. J Autism Dev Disord1982;12:303–8.
320.
BrownWTJenkinsECGoonewardenaPMiezejeskiCAtkinJDevysD. Prenatally detected fragile X females: Long-term follow-up studies show high risk of mental retardation. Am J Med Genet1992;43:96–102.
321.
BrownWT.Perspectives and molecular diagnosis of the fragile-X syndrome. Clin Lab Med1995;15:859.
322.
BundeySWebbTPThakeAToddJ. A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology. J Med Genet1985;22:258–66.
323.
BundeySNormanE. Population screening for fragile-X syndrome [letter]. Lancet1993;341:770.
324.
ButlerMGPratesiRVnencak-JonesCL.Molecular genetic screening in cytogenetically normal mentally retarded males with manifestations of fragile X syndrome [letter]. Am J Med Genet1994;51:315–16.
325.
ButlerMGPratesiRVnencak-JonesCL.Molecular-genetic analysis of mentally-retarded males with features of the fragile-x syndrome. J Intellect Disabil Res1995;39:544–53.
326.
CaskeyCT.Fragile X syndrome: Improving understanding and diagnosis [editorial]. JAMA1994;271:552–3.
327.
ChiurazziPKozakLNeriG. Unstable triplets and their mutational mechanism: Size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome [review]. Am J Med Genet1994;51:517–21.
328.
ChiurazziPde GraaffENgJNo apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome. Am J Med Genet1994;ä: 309–14.
329.
Clayton-SmithJ. Specification of the neurobehavioural phenotype in males with fragile X syndrome. J Med Genet1995; 32:853.
330.
CohenIL.Behavioral profiles of autistic and non-autistic fragile X males. Developments in Brain Dysfunction1995;8:252–69.
331.
CraftN. Study supports screening for the fragile X syndrome. BMJ1995;310:148.
CurtisGDennisNMacphersonJ. The impact of genetic counselling on females in fragile X families. J Med Genet1994;31:950–2.
334.
DanielsJKOwenMJMcGuffinPIQ and variation in the number of fragile X CGG repeats: No association in a normal sample. Intelligence1994;19:45–50.
335.
DarHChemkeTSchaapTEthnic distribution of the fragile X syndrome in Israel: Evidence of founder chromosomes. Isr J Med Sci1995;31:323–5.
336.
DaviesKE.Human genetics. The costs of instability. Nature1992;356:15.
337.
de ArceMA.Verification of Lyon's hypothesis in fragile X carriers [letter]. Hum Genet1984;68:346–7.
338.
de VriesBBAvan den OuwelandAMVMohkamsingSAcceptance of screening for the fragile-X syndrome among 1878 mentally-retarded individuals in institutes and special schools in the Netherlands. Am J Hum Genet1995;57: 1705.
339.
DeelenWBakkerCHalleyDJOostraBA.Conservation of CGG region in FMR1 gene in mammals. Am J Med Genet1994;51:513–16.
340.
DistecheCM.Escape from X inactivation in human and mouse. Trends Genet1995;11:17–22.
341.
DobkinCSDingXJenkinsECPrenatal diagnosis of fragile X syndrome. Lancet1991;338:957–8.
342.
The Dutch-Belgian Fragile X Consortium. FMR.1 knockout mice: A model to study fragile X mental retardation. Cell1994;78:23–33.
343.
EberleGZanklHZanklM. Cocultivation studies with cells of patients bearing fragile X chromosomes. Hum Genet1982; 61:163–1.
344.
EberleGZanklMZanklH. The expression of fragile X chromosomes in members of the same family at different times of examination. Hum Genet1982;61:254–5.
345.
EichlerEEKunstCBLugenbeelKAEvolution of the cryptic FMR1 CGG repeat. Nat Genet1995;11:301–8.
346.
EichlerEENelsonDL.Genetic-variation and evolutionary stability of the FMR1-cgg- repeat in 6 closed human-populations. Am J Med Genet1996;64:220–5.
347.
FalikborensteinTCYalonMShachakLLong uninterrupted CGG repeats within the FMR1 gene — possible mechanism for the prevalence of the fragile-X syndrome among Tunisian Jews. Am J Hum Genet1995;57: 1218.
348.
FischGCohenIJenkinsEBrownW. Screening developmentally disabled male populations for fragile X: The effect of sample size. Am J Med Genet1988;30:655–63.
349.
FischGSFrynsJP.Factors which contribute to cytogenetic frequency of expression in families of fragile X females. Am J Med Genet1992;43:142–8.
350.
FischGSNelsonDLSnowKThibodeauSNChalifouxMHoldenJJ.Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing. Am J Med Genet1994;51:339–15.
351.
FitchettM. Fra(X)(p22) not associated with infantile autism [letter]. Lancet1984;ii:1397.
352.
FonatschCSchwingerE. Frequency of fragile X chromosomes, fra(X), in lymphocytes in relation to blood storage time and culture techniques. Hum Genet1983;64:39–41.
353.
FreundLSReissALHagermanRVinogradovS. Chromosome fragility and psychopathology in obligate female carriers of the fragile X chromosome. Arch Gen Psychiatry1992;49:54–60.
354.
FrynsJPvan den BergheH. Transmission of fragile (X)(q27) from normal male(s). Hum Genet1982;61:262–3.
355.
FrynsJPKleczkowskaAKubienEPetitPvan den BergheH. Inactivation pattern of the fragile X in heterozygous carriers. Hum Genet1984;65:400–1.
356.
FrynsJPJacobsJKleczkowskaAvan den BergheH. The psychological profile of the fragile X syndrome. Clin Genet1984;25:131–4.
357.
FrynsJPCurfsLMCassimanJJvan den BergheH. The fragile-X syndrome after the discovery of the FMR-1 gene [editorial]. Genet Couns1992;3:175–7.
358.
GardnerAPHowellRTMcDermottA. Fragile X chromosome: Consistent demonstration of fragile site in fibroblast cultures [letter]. Lancet1982;i:101.
359.
GeczJGedeonAKSutherlandGRMulleyJC.Identification of the gene FMR2, associated with FRAXE mental retardation. Nat Genet1996;13:105–8.
360.
GlassL. Females with fragile-X — a parents perspective. Developmental Brain Dysfunction1995;8:363–6.
361.
GoonewardenaPZhangJ. A single tube non-radioactive PCR assay for the detection of the full spectrum of FMR1 CGG repeats seen in the normal carrier and fragile-X syndrome individuals. Am J Hum Genet1995;57:1914.
362.
GrigsbyJKemperMBHagermanRJ.Verbal learning and memory among heterozygous fragile X females. Am J Med Genet1992;43:111–15.
363.
GuYShenYGibbsRANelsonDL.Identification of FMR2, a novel gene associated with the FRAXE CGG repeat and CpG island. Nat Genet1996;13:109–13.
364.
HalleyDvan den OuwelandADeelenWVermaIOostraB. Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome. Am J Med Genet1994;S1: 471–3.
365.
HansenRSGartlerSMScottCRChenSHLairdCD.Methylation analysis of CGG sites in the CpG island of the human FMR1 gene. Hum Mol Genet1992;1:571–8.
366.
HanzlikAJOsemlak-HanzlikMMHauserMAKurnitDM.A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development. Nat Genet1993;3:44–8.
367.
HarveyJJudgeCWeinerS. Familial X-linked mental retardation with an X chromosome abnormality. J Med Genet1977;14:46–50.
368.
HintonVJDobkinCSHalperinJMMode of inheritance, influences, behavioural expression and molecular control of cognitive defecits in female carriers of the fragile X syndrome. Am J Med Genet1992;43:87–95.
369.
HintonVJHalperinJMDobkinCSDingXHBrownWTMiezejeskiCM.Cognitive and molecular aspects of fragile X. J Clin Exp Neuropsychol1995;17:518–28.
370.
HirstMGrewalPFlanneryATwo new cases of FMR1 deletion associated with mental impairment. Am J Hum Genet1995;56:67–74.
371.
HirstMCKnightSCaviesKPrenatal diagnosis of fragile X syndrome. Lancet1991;338:956–7.
372.
HirstMCKnightSJChristodoulouZGrewalPKFrynsJPDaviesKE.Origins of the fragile X syndrome mutation. J Med Genet1993;30:647–50.
373.
HirstMC.FMR1 triplet arrays — paying the price for perfection. J Med Genet1995;32:761–3.
374.
HoldenJJAChalifouxMWingMDistribution and frequency of FMR1 CGG repeat number in institutionalized developmentally disabled individuals. Developmental Brain Dysfunction1995;8:302–9.
375.
HoldenJJAChalifouxMJulieninalsinghCLack of expansion of triplet repeats in the FMR1 FRAXE and FRAXF genes in multiplex male families with autism and pervasive developmental disorders. Am J Hum Genet1995; 57:1920.
376.
Howard-PeeblesPNMaddalenaA. Recent experience in prenatal diagnosis of fragile X. Am J Med Genet1992;43:162–6.
377.
Howard-PeeblesPNMaddalenaABlackSHSchulmanJD.Population screening for fragile-X syndrome [letter]. Lancet1993;341:770.
378.
Howard-PeeblesPNMaddalenaASpenceWCFragile X screening: What is the real issue? [letter]. Am J Med Genet1994;53:382.
379.
HowellRTMcDermottA. Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females. Hum Genet1982;62:282–4.
380.
HultenMArmstrongSBarlowAGerm-line mosaicism investigations in the fragile X syndrome. British Medical Genetics Conference Proceedings1995; Abs 123.
381.
JacobsPAMayerMAbruzzoM. Sudies of the fragile (X) syndrome in populations of mentally retarded individuals in Hawaii. Am J Med Genet1986;23:567–72.
382.
JacobsPAShermanSTurnerGWebbT. The fragile X syndrome: The mutation problem. Am J Med Genet1986;23:611–17.
383.
JenkinsECBrownWTKrawczunMSFra(X)(p22) not associated with infantile autism [letter]. Lancet1984;ii: 1397.
384.
JenkinsECBrownWTBrooksJDuncanCJRudelliRDWisniewskiHM.Experience with prenatal fragile X detection. Am J Med Genet1984; 17:215–39.
385.
JenkinsECKrawczunMSBrooksSEBrooksSLShermanSLBrownWT.Laboratory aspects of prenatal fra(X) detection. Prog Clin Biol Res1991;368:27–42.
386.
JenkinsECGenoveseMJDuncanCJFra(X)(q27.2), the common fragile site, observed in only one of 760 cases studied for the fragile X syndrome. Am J Med Genet1992; 43:136–41.
387.
JenkinsECGenoveseMDuncanCJOccurrence of aneuploidy for the X chromosome in over 1,300 unrelated specimens screened for the fragile X chromosome [letter]. Am J Med Genet1994;51:452–3.
388.
JenkinsECDobkinCSDingXLiSYHouckGEBrownT. Threshold CGG repeat size for fragile site expression without methylation identified in lymphocyte lymphoblastoid and clonal lymphoblastoid cultures from an FMR1 unmethylated mosaic full mutation individual. Am J Hum Genet1995;57(suppl):655.
389.
JenningsMHallJGHoehnH. Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation. Am J Med Genet1980;7:417–32.
390.
JohnsonJPCurryCMicekMLouieEAbramsLDietzL. Transmission of stable and unstable premutations from great-grandmother and great-grandfather respectively — lessons for genetic-counseling in fragile-X syndrome families. Am J Hum Genet1995;57:1407.
391.
KeenanJKastnerTNathansonRRichardsonNHintonJCressDA.A statewide public and professional education program on fragile X syndrome. Ment Retard1992;30:355–61.
392.
KerbyDSDawsonBL.Autistic features, personality, and adaptive behavior in males with the fragile X syndrome and no autism. Am J Ment Retard1994;98:455–62.
393.
KhandjianEWFortinAThibodeauAA heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture. Hum Mol Genet1995;4:783–9.
394.
KinnellHG.Fragile-X disorder associated with antisocial personality [letter]. Lancet1982;ii:1104.
395.
KinnellHGBanuSP.Institutional prevalence of fragile X syndrome. Lancet1983;ii:1427.
396.
KolehmainenKKarantY. Modeling methylation and IQ scores in fragile X females and mosaic males. Am J Med Genet1994;51:328–38.
397.
KondoI. Nonradioactive DNA diagnosis for the fragile-X syndrome in Japanese mentally-retarded males. Brain Dev1995;17:323.
398.
LachiewiczAMDawsonDV.Behavior problems of young girls with fragile X syndrome: Factor scores on the Conners' Parent's Questionnaire. Am J Med Genet1994;51:364–9.
399.
LachiewiczAMDawsonDV.Do young boys with fragile X syndrome have macroorchidism?Pediatrics1994;93:992–5.
LessickML.Pediatric management problems. Fragile X syndrome. Pediatric Nursing1993;19:622–4.
402.
LoeschDZHugginsRMChinWF.Effect of fragile X on physical and intellectual traits estimated by pedigree analysis. Am J Med Genet1993;46:415–22.
403.
LoeschDZSheffieldLJHayDA.Between-generation differences in ascertainment and penetrance: Relevance to genetic hypotheses in fragile X. Hum Genet1993;91:469–74.
404.
LoeschDZHayDAMulleyJ. Transmitting males and carrier females in fragile X—revisited. Am J Med Genet1994;51:392–9.
405.
LubsHAChiurazziPArenaJFSchwartzCTranebjaergLNeriG. XLMR genes — update 1996. Am J Med Genet1996;64:147–57.
406.
LuoSRobinsonJCReissALMigeonBR.DNA methylation of the fragile X locus in somatic and germ cells during fetal development: Relevance to the fragile X syndrome and X inactivation. Somat Cell Mol Genet1993;19:393–404.
407.
MacphersonJNNelsonDLJacobsPA.Frequent small amplifications in the FMR-1 gene in fra(X) families: Limits to the diagnosis of ‘premutations’. J Med Genet1992;29:802–6.
408.
MacphersonJNCurtisGCrollaJAUnusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome. J Med Genet1995;32:236–9.
409.
MagnayDMorritJWaterstonT. Fragile X syndrome. Arch Dis Child1996;74:88.
410.
MandelJL.Questions of expansion [news]. Nat Genet1993;4:8–9.
411.
MarcheseCALinMSWilsonMG.Comparison of expression of the fragile site at Xq27 in T and B lymphocytes. Hum Genet1984;67:213.
412.
MartinezFBadiaLPrietoF. A fragile X family with high penetrance in females: Risk heterogeneity?Clin Genet1992;42:22–6.
413.
MatteiJFMatteiMGAumerasCAugerMGiraudF. X-linked mental retardation with the fragile X. A study of 15 families. Hum Genet1981;59:281–9.
414.
MatteiMGMatteiJFVidalIGiraudF. Expression in lymphocyte and fibroblast culture of the fragile X chromosome: A new technical approach. Hum Genet1981; 59:166–9.
415.
McConkie-RosellARobinsonHWakeSStaleyLHellerKCronisterA. Educating extended family members about the inheritance of the fragile-X syndrome. Developmental Brain Dysfunction1995;8:390–5.
416.
McKinleyMJKearneyLUNicolaidesKHGosdenCMWebbTPFrynsJP.Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture. Am J Med Genet1988;30:355–68.
417.
McMurrayCT.Mechanisms of DNA expansion. Chromosoma1995;104:2–13.
418.
MeryashDL.Characteristics of fragile X relatives with different attitudes toward terminating an affected pregnancy. Am J Ment Retard1992;96:528–35.
419.
MigeonBRWolfSFAxelmanJKaslowDCSchmistM. Incomplete X chromosome dosage compensation in chorionic villi of human placenta. Proc Natl Acad Sci USA1985; 82:3390–4.
420.
MigeonBRHollandMMDriscollDJRobinsonJC.Programmed demethylation in CpG islands during human fetal development. Somat Cell Mol Genet1991;17:159–68.
421.
MigeonBR.NICHD conference. Role of DNA methylation in X inactivation and the fragile X syndrome. Am J Med Genet1993;46:685–6.
422.
MilaMKruyerHGloverGMolecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families. Hum Genet1994;94:395–400.
MontagnonMBogyoADeluchatCTransition from normal to premutated alleles in fragile X syndrome results from a multistep process. Eur J Hum Genet1994;2:125–31.
425.
MornetEChateauCTaillandierASimonbouyBSerreJL.Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile-X syndrome. Hum Genet1996;97:512–15.
426.
MorrisAMortonNECollinsAMacphersonJNelsonDShermanS. An n-allele model for progressive amplification in the FMR1 locus. Proc Natl Acad Sci USA1995;92:4833–7.
427.
MortonJERindlPMBullockSBundeySWebbT. Fragile-X syndrome is less common than previously estimated. J Med Genet1995;32:144–5.
428.
MuellerOTHartsfieldJKAmarMJAGallardoLAKousseffBG.Fragile-X syndrome — discordant levels of CGG repeat mosaicism in 2 brothers. Am J Med Genet1995;60:302–6.
429.
MurphyPDWilmotPLShapiroLR.Prenatal diagnosis of fragile X syndrome: Results from parallel molecular and cytogenetic studies. Am J Med Genet1992;43:181–6.
430.
NaberSP.Molecular diagnosis of fragile X syndrome. Diagn Mol Pathol1995;4:158–61.
431.
NakahoriY. The incidence of the fragile X syndrome in Japanese. Brain Dev1995;17:322.
432.
NelsonDLWarrenST.Trinucleotide repeat instability: When and where? [comment]. Nat Genet1993;4:107–8.
NelsonDLKunstCBLugenbeelKARyderOAWarrenSTEichlerEE.Evolution of the cryptic FMR1 CGG repeat. Am J Hum Genet1995;57:211.
435.
NevilleLCochraneJFitzgeraldPKennedyM. Fragile-X mental-retardation syndrome — DNA diagnosis and carrier detection in New Zealand families. N Z Med J1995;108: 404.
436.
NolinSLGlicksmanALewisFAEvidence for a familial factor involved in CGG repeat expansion in fragile X syndrome. Am J Hum Genet1995;57:965.
437.
OberléIBoueJCroquetteMFVoelckelMAMatteiMGMandelJL.Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR-1 CpG island, and no clear phenotypic association. Am J Med Genet1992;43:224–31.
438.
OostraBAJackyPBBrownWTRousseauF. Guidelines for the diagnosis of fragile X syndrome (National Fragile X Foundation). J Med Genet1993;30:410–13.
439.
PalomakiGEHaddowJE.Is it time for population-based prenatal screening for fragile-X?Lancet1993;341:373–4.
440.
PenningtonBFO'ConnorRASudhalterV. Towards a neuropsychology of fragile X syndrome. In HagermanRJSilvermanAC, eds. Fragile X syndrome: Diagnosis, treatment and research. Baltimore: Johns Hopkins University Press, 1991.
441.
PintadoEDe DiegoYHmadchaACarrascoMSierraJLucasM. Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree. J Med Genet1995;32:907–8.
442.
PotterNTLozzioCBAndersonIJBowlinESMattesonKJ.Use of a molecular genetic approach to diagnosing the fragile X genotype. J Pediatr1992;121:385–90.
443.
PriorTWPappACSnyderPJSedraMSGuidaMEnrileBG.Germline mosaicism at the fragile X locus. Am J Med Genet1995;55:384–6.
444.
PuissantHMalingeMCLarget-PietAMolecular analysis of 53 fragile X families with the probe StB12.3. Am J Med Genet1994;53:370–3.
445.
ReissALFreundL. Behavioral phenotype of fragile X syndrome: DSM-III-R autistic behavior in male children. Am J Med Genet1992;43:35–46.
446.
RichardsRIHolmanKKozmanHFragile X syndrome: Genetic localisation by linkage mapping of two micro satellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet1991;28:818–23.
447.
RichardsRIHolmanKYuSSutherlandGR.Fragile X syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins. Hum Mol Genet1993;2:1429–35.
RigginsGJShermanSLOostraBACharacterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site. Am J Med Genet1992;43:237–13.
451.
RossiterBJCaskeyCT.The human genome project and clinical medicine [review]. Oncology1992;6:61–8.
452.
RudelliRDJenkinsECWisniewskiKMoretzRByrneJBrownWT.Testicular size in fetal fragile X syndrome [letter]. Lancet1983;i:1221–2.
453.
RyynänenMPulkkinenLKirkinenPSaarikoskiS. Fragile-X syndrome in east Finland: Molecular approach to genetic and prenatal diagnosis. Am J Med Genet1994;51:463–5.
454.
SabaratnamMLaverSButlerLPembreyM. Fragile-X syndrome in North East Essex: Towards systematic screening: Clinical selection. J Intellect Disabil Res1994;38:27–35.
SchmidtAPassargeESeemanovaEMacekM. Prenatal detection of a fetus hemizygous for the fragile X-chromosome. Hum Genet1982;62:285–6.
457.
SchwartzCEPhelanMCPulliamLHFragile X syndrome: Incidence, clinical and cytogenetic findings in the black and white populations of South Carolina. Am J Med Genet1988;30:641–54.
458.
ShapiroLR.The fragile X syndrome-clinical overview. Prog Clin Biol Res1991;368:3–14.
459.
ShapiroLRWilmotPLShapiroDAPettersenIMCasamassimaAC.Cytogenetic diagnosis of the fragile X syndrome: Efficiency, utilization, and trends. Am J Med Genet1991;38:408–10.
460.
ShapiroLRWilmotPLAndreeLE.Prenatal cytogenetic diagnosis of the fragile X chromosome: Feasibility and speed of in situ clonal method in amniotic fluid cell tissue culture. Am J Med Genet1992;43:167–9.
461.
ShapiroLRWilmotPLFischGS.Prenatal cytogenetic diagnosis of the fragile X syndrome in amniotic fluid: Calculation of accuracy. Am J Med Genet1992;43:170–3.
462.
ShastryBS.Heritable trinucleotide repeats and neurological disorders [review]. Experientia1994;50:1099–105.
463.
ShermanSLJacobsPAMortonNEFurther segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet1985;69:289–99.
464.
ShermanSL.Genetic epidemiology of the fragile X syndrome with special reference to genetic counseling [review]. Prog Clin Biol Res1991;368:79–99.
465.
ShermanSLBarbiGBrondum-NeilsenKBrownWTCarpenterAC.Collaborative prospective study of the fragile X syndrome: One year progress report. Am J Med Genet1992;43:355–60.
466.
ShermanSL.The high prevalence of fragile X premutation carrier females — Is this frequency unique to the French-Canadian population. Am J Hum Genet1995;57:991–3.
467.
SiomiHChoiMSiomiMCNussbaumRLDreyfussG. Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Cell1994;77:33–9.
468.
SlaneySFWilkieAOHirstMC.DNA testing for fragile X syndrome in schools for learning difficulties. Arch Dis Child1995;72:33–7.
469.
SmartRD.Fragile X syndrome: As common as first thought?J Med Genet1992;29:287.
470.
SmithSE.Cognitive deficits associated with fragile X syndrome [review]. Ment Retard1993;31:279–83.
471.
SmitsASmeetsDHamelBDreesenJvan OostB. High prevalence of the fra(X) syndrome cannot be explained by a high mutation rate. Am J Med Genet1992;43:345–52.
472.
SmitsASmeetsDDreesenJHamelBde HaanAvan OostB. Parental origin of the fra(x) gene is a major determinant of the cytogenetic expression and the CGG repeat length in female carriers. Am J Med Genet1992;43:261–7.
473.
SmitsAPvan OostBAde HaanAFHamelBCDreesenJCSmeetsDF.Penetrance of fra(X) gene: Influence of grand-parental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male. Am J Med Genet1992;43:365–72.
474.
SobeskyWEHullCEHagermanRJ.Symptoms of schizotypal personality disorder in fragile X women. J Am Acad Child Adolesc Psychiatry1994;33:247–55.
475.
SobeskyWEPorterDPenningtonBFHagermanRJ.Dimensions of shyness in fragile-x females. Developmental Brain Dysfunction1995;8:280–92.
476.
StaleyLWHullCEMazzoccoMMMolecular-clinical correlations in children and adults with fragile X syndrome. Am J Dis Child1993;147:723–6.
477.
StaleyLWTylorAKMcGavranLIdentification of cytogenetic abnormalities as a consequence of FMR-1 testing in schools. Developmental Brain Dysfunction1995;8:310–18.
478.
SteyaertJBorghgraefMGulthierCFrynsJPVan Den BergheH. Cognitive profiles in adult, normal intelligent female fragile X carriers. Am J Med Genet1992;43:116–19.
479.
SteyaertJDecruyenaereMBorghgraefMFrynsJP.Personality profile in adult female fragile X carriers: Assessed with the Minnesota Multiphasic Personality Profile (MMPI). Am J Med Genet1994;51:370–3.
480.
SutherlandGR.Routine diagnostic detection of the fragile X [letter]. J Med Genet1984;21:74–5.
481.
SutherlandGR.Heritable fragile sites on human chromosomes. XII. Population cytogenetics. Ann Hum Genet1985;49:153–61.
482.
SutherlandGRMulleyJC.Diagnostic molecular genetics of the fragile X. Clin Genet1990;73:2–11.
483.
SutherlandGRHaanEAKremerEHereditary unstable DNA: A new explanation for some old genetic questions?Lancet1991;338:289–92.
484.
SutherlandGRGedeonAKornmanLPrenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence. N Engl J Med1991;325:1720–2.
485.
SutherlandGRRichardsRI.Anticipation legitimized: Unstable DNA to the rescue [editorial]. Am J Hum Genet1992;51:7–9.
486.
SutherlandGRRichardsRI.Simple tandem DNA repeats and human genetic disease [review]. Proc Natl Acad Sci USA1995;92:3636–41.
487.
SyrrouMPatsalisPCGeorgiouIHadjimarcouMIConstantinoudeltasCDPagoulatosG. Evidence for high-risk haplotypes and (CGG) expansion in fragile-x syndrome in the hellenic population of Greece and Cyprus. Am J Med Genet1996;64:234–8.
488.
TarletonJSchwartzCE.Using the polymerase chain reaction to maintain DNA probe inventories in clinical and diagnostic laboratories. Clin Genet1991;39:121–4.
489.
TarletonJWongSHeirzDSchwartzC. Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations. J Med Genet1992;29:726–9.
490.
TejadaIMornetEBiancalanaVDirect DNA analysis of fragile X syndrome in Spanish pedigrees. Am J Med Genet1992;43:282–90.
491.
ThakeAToddJBundeySWebbT. Is it possible to make a clincal diagnosis of the fragile X syndrome in a boy?Arch Dis Child1985;60:1001–7.
492.
TommerupN. Cytogenetics of the fragile site at Xq27. In: DaviesKE, ed. The fragile X syndrome. Oxford: Oxford University Press, 1989:103–35.
493.
TsaiMSChienTYYangYLChenHRHwangSM.Identification of the number of the fragile-X syndrome CGG repeat using silver stain. Am J Hum Genet. 1995;57:1941.
494.
TsongalisGJSilvermanLM.Molecular pathology of the fragile X syndrome [review]. Arch Pathol Lab Med1993;117:1121–5.
495.
TurkJ. The fragile-X syndrome. On the way to a behavioural phenotype [review]. Br J Psychiatry1992;160:24–35.
496.
TurkJ. Fragile X syndrome. Arch Dis Child1995;72:3–5.
497.
TurkJ. Treatment of fragile-X syndrome. Arch Dis Child1995; 72:544.
498.
TurnerAMRobinsonHWakeSLaingSJLeighDTurnerG. Counselling risk figures for fragile X carrier females of varying band sizes for use in predicting the likelihood of retardation in their offspring. Am J Med Genet1994;51:458–62.
499.
TurnerGTurnerB. X-linked mental retardation. J Med Genet1974;11:109–13.
500.
TurnerGDanielAFrostM. X-linked mental retardation, macro-orchidism, and the Xq27 fragile site. J Pediatr1980; 96:837–13.
501.
TurnerG. Intelligence and the X chromosome. Lancet1996; 347:1814–5.
502.
VerkerkAJMHde VriesBBANiermeijerMFIntragenic probe used for diagnostics in fragile X families. Am J Med Genet1992;43:192–6.
503.
Vianna-MorganteAMOttoPA.Notes on the population genetics of fragile X syndrome. Am J Med Genet1992;43:339–44.
504.
VitsLde BoulleKReyniersEApparent regression of the CGG repeat in FMR1 to an allele of normal size. Hum Genet1994;94:523–6.
505.
WakeSARobinsonH. Assessment of counseling of normal males and normal transmitting male carriers identified in fragile-x families. Developmental Brain Dysfunction1995;8:319–26.
506.
WangQGreenEBobrowMMathewCG.Screening for the fragile X A and E mutations by automated fluorescent analysis. J Med Genet1995;32:153.
507.
WarrenSTNelsonDL.Advances in molecular analysis of fragile X syndrome. JAMA1994;271:536–42.
508.
WatsonMSLeckmanJFAnnexBFragile X in a survey of 75 autistic males [letter]. N Engl J Med1984;310:1462.
509.
WebbGCRogersJGPittDBHallidayJTheobaldT. Transmission of fragile (X) (q27) site from a male [letter]. Lancet1981;ii:123102.
510.
WebbJ. A fragile case for screening. New Scientist1993;140:10–11.
511.
WebbTBundeySThakeAToddJ. Population incidence and segregation ratios in the Martin-Bell syndrome. Am J Med Genet1986;23:573–80.
512.
WebbTBundeyS. Prevalence of fragile X syndrome. J Med Genet1991;28:358.
513.
WebbT. Prenatal diagnosis of the fragile X syndrome. In: DrifeJODonnaiD, eds. Antenatal diagnosis of fetal abnormalities. London: Springer, 1991:169–79.
514.
WebbTPBundeySMcKinleyM. Missed prenatal diagnosis of fragile X syndrome. Prenat Diagn1989;9:777–81.
515.
WiegersAMCurfsLMVermeerELFrynsJP.Adaptive behavior in the fragile X syndrome: Profile and development. Am J Med Genet1993;47:216–20.
516.
WiegersAMCurfsLMMeijerHOostraBFrynsJP.A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X like psychological features. Genet Couns1994;5:377–80.
517.
WillardHF.X-chromosome inactivation and X-linked mental-retardation. Am J Med Genet1996;64:21–6.
518.
WillemsPJvan RoyBDe BoulleKSegregation of the fragile X mutation from an affected male to his normal daughter. Hum Mol Genet1992;1:511–15.
519.
WillemsPJ.Dynamic mutations hit double figures [comment]. Nat Genet1994;8:213–15.
520.
WilmotPL.Review of cytogenetic data for fragile X detection: Lymphocytes and other tissues [review]Prog Clin Biol Res1991;368:15–25.
521.
WilsonPGMazzoccoMM.Awareness and knowledge of fragile X syndrome among special educators. Ment Retard1993;31:221–7.
522.
WinkelerKAWarrenST.Variations in the length of the CGG-repeat of FMR-1 affect gene-expression. Am J Hum Genet1995;57:869.
523.
WrighttalamanteCCheemaARiddleJELuckeyDTaylorAHagermanRJ.A controlled-study of longitudinal IQ changes in females and males with fragile-X syndrome. Am J Hum Genet1995;57:585.
524.
York-MooreD. New developments in the fragile X syndrome [editorial]. BMJ1992;305:208.
525.
York-MooreD. Diagnosing fragile X syndrome. Lancet1993;342:1563–4.
526.
YoungID.Diagnosing fragile X syndrome [comment]. Lancet1993;342:1004–5.
527.
ZhaoYShenYLiuYFragile X syndrome (Martin-Bell syndrome) in China. Am J Med Genet1991;38:288–9.
528.
ZhongNDobkinCBrownWT.A complex mutable polymorphism located within the fragile X gene. Nat Genet1993;5:248–53.
529.
ZhongNYeLDobkinCBrownWT.Fragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity?Am J Med Genet1994;51:405–11.
530.
ZhongNLiuXGouSDistribution of FMR-1 and associated microsatellite alleles in a normal Chinese population. Am J Med Genet1994;51:417–22.
531.
ZhongNCurleyDDobkinCBrownWT.Determination of transcription factors binding to the FMR1 promoter region. Am J Hum Genet1995;57:880.