HistCite - index: Fragile X

Tue Aug 24 10:42:25 2004

All papers with "Fragile X" in the title.

Nodes: 2369
Authors: 4634, Journals: 373, Outer References: 14152
Collection span: 1980 - 2004
View: Overview. Sorted by GCS.
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# LCR NCR Nodes / Date / Journal / Authors LCS GCS
2201 0 0 2086 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):373-373
Ennis S; Brightwell G; Collins A; Jacobs P; Morton NE
Phylogeny of fragile X haplotypes from an English population.
0 0
2202 0 0 2087 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):377-377
Zabala WM; Nava N; Gonzalez S; Delgado W; Borjas L; Fernandez E; Rojas A; Pineda L
Clinical and molecular analysis of the fragile X syndrome in mentally retarded males from the Venezuelan northwestern region.
0 0
2203 0 0 2088 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):384-384
Chen S; Schoof JM; Lemoine CJ; Gordon CL; Scott CR
Prevalence survey of the Fragile X E syndrome referred for Fragile X syndrome testing in boys with mental retardation.
0 0
2204 0 0 2089 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):505-505
Dobkin CS; Ding XH; Houck GE; Mitchell E; Brown WT; Nolin SL
A rare Eag I polymorphism that may confound fragile X diagnosis.
0 0
2205 0 0 2091 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):518-518
Maranduba CMC; Vianna-Morgante AM; Passos-Bueno MR
P172H mutation in the TM4SF2 gene accounts for 1% of non-fragile X mental retardation in Brazilian patients.
0 0
2206 0 0 2092 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):523-523
Bastaki LA; Al-Awadi SA; Hegazi FA; Turky NA; Mustafa MA; Naguib KA
PCR technique and significance in fragile X syndrome.
0 0
2207 12 32 2097 2002 AMERICAN JOURNAL OF MEDICAL GENETICS 110(1):36-44
McConkie-Rosell A; Spiridigliozzi GA; Sullivan JA; Dawson DV; Lachiewicz AM
Carrier testing in fragile X syndrome: When to tell and test
0 0
2208 3 36 2100 2002 AMERICAN JOURNAL OF MEDICAL GENETICS 111(4):381-387
Steinhausen HC; von Gontard A; Spohr HL; Hauffa BP; Eiholzer U; Backes M; Willms J; Malin Z
Behavioral phenotypes in four mental retardation syndromes: Fetal alcohol syndrome, Prader-Willi syndrome, fragile X syndrome, and tuberosis sclerosis
0 0
2209 0 0 2101 2002 AMERICAN JOURNAL OF MEDICAL GENETICS 114(7):833-833
Steyaert J; Borghgraef M; Fryns JP
A distinct neurocognitive phenotype in female fragile X premutation carriers
0 0
2210 17 42 2104 2002 AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY 11(4):295-304
Roberts JE; Mirrett P; Anderson K; Burchinal M; Neebe E
Early communication, symbolic behavior, and social profiles of young males with fragile X syndrome
0 0
# LCR NCR Nodes / Date / Journal / Authors LCS GCS
2211 0 0 2105 2002 ANNALS OF NEUROLOGY 52(3):S86-S86
Berry-Kravis E; Lewin F; Wuu J; Leehey M; Hagerman R; Hagerman P; Goetz C
Tremor and ataxia in adult fragile X premutation carriers: Blinded videotape evaluation
0 0
2212 17 30 2108 2002 ARQUIVOS DE NEURO-PSIQUIATRIA 60(4):981-985
Yonamine SM; da Silva AA
Characteristics of the communication in individuals with fragile X syndrome
0 0
2213 0 0 2122 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:55-56
Carmichael B
Fragile X Syndrome - its impact on families
0 0
2214 0 0 2123 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:63-63
Hagerman PJ; Greco CM; Tassone F; Chudley A; Del Bigio MR; Jacquemont S; Leehey M; Hagerman RJ
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
0 0
2215 0 0 2124 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:220-220
Loesch DZ
Effect of prennutation in the FMR1 gene on cognitive and physical phenotype in fragile X assessed by pedigree analysis.
0 0
2216 0 0 2125 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:220-220
Afifi HH; Abdel-Aleem AK; Shaheen OO
Fragile X syndrome: clinical and behavioral study.
0 0
2217 0 0 2126 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:227-227
Steinbach P; Jakubiczka S; Bettecken T
X inactivation and fragile X methylation in human placentas
0 0
2218 0 0 2127 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:228-228
Tzeng C; Chen W; Huang K
Prevalence of fragile-X female carrier in Taiwan is lower than expected
0 0
2219 0 0 2128 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:228-229
Biancalana V; Beldjord C; de Martinville B; Bieth E; Blayau M; Bonnefont J; Creveaux I; Cusin V; Doco-Fenzy M; Fellmann F; Gerson F; Guiochon-Mantel A; Houdayer C; Kottler M; Lesca G; Philippe C; Prieur F; Puissant H; Raynaud M; Saugier-Veber P; Taillandier A; Taine L; Voelckel M
5 years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study of 22 laboratories in France.
0 0
2220 0 0 2129 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:229-229
Hasanzad M; Amini SH; Taghizadeh F; Teimourian S; Karimi-Nejad R; Shafeghati Y; Karimi-Nejad M; Najmabadi H
Analysis of FMR 1 methylation in Fragile X syndrome in Iranian population
0 0
# LCR NCR Nodes / Date / Journal / Authors LCS GCS
2221 0 0 2130 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:229-229
Gryschenko NV; Malarchuk SG; Livshits LA
CGG-repeat expansion and metilation status of the promotor region of FMR1 gene analysis in the Fragile-X sindrome patients from Ukraine
0 0
2222 0 0 2131 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:229-229
Deelen WH; Jansen C; Ramlakhan SR; Labrijn-Marks I; Olmer R; Dooijes D; vanden Ouweland AMW; Halley DJJ
Five years experience with DIG labeled probes on Southern blots applied in Fragile X diagnostics
0 0
2223 2 2 2132 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:231-231
Bardoni B; Schenck A; van de Bor V; Giangrande A; Mandel J
Drosophila as a model to study the physiological pathway in which FMRP (Fragile X Mental Retardation Protein) is involved
0 0
2224 0 0 2133 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:231-231
Zalfa F; Primerano B; Lauro C; Giorgi M; Moro A; Spinelli G; Tongiorgi E; Costra B; Amaldi F; Bagni C
Towards an understanding of the Fragile X syndrome: FMRP is translated at the synapses where it acts as a translational regulator
0 0
2225 0 0 2134 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:231-231
Gantois I; Reyniers E; Kooy F
Differential gene expression in the fragile X mouse model
0 0
2226 0 0 2135 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:231-232
Pietrobono R; Pomponi MG; Tabolacci E; Oostra B; Chiurazzi P; Neri G
Quantitative analysis of DNA demethylation and trascriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine
0 0
2227 0 0 2136 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:232-232
McKelvie KB; Reynolds A; Tassone F; Taylor AK; Hagerman RJ
Evidence for skewed X chromosome inactivation in females with the fragile X full mutation
0 0
2228 0 0 2137 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:323-323
Wilson R; Epstein JH; McKelvie K; Grisgby J; Nagamoto H; Harris S; Reynolds A; Hagerman R
Psychological and neuropsychological findings in adults with the premutation and full mutation for Fragile X Syndrome
0 0
2229 0 0 2138 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:323-323
O'Connor R; Riley K; Epstein J; Wilson R; McKelvie K; Reynolds A; Hagerman R; Levine R
Analysis of ADHD subtypes in Fragile X syndrome
0 0
2230 0 0 2141 2002 GENETIC COUNSELING 13(2):207-261
[Anon]
Abstracts of the 10th International Workshop on Fragile X and X-Linked Mental Retardation - 19-22 September 2001, Frascati, Italy
0 0
# LCR NCR Nodes / Date / Journal / Authors LCS GCS
2231 29 49 2142 2002 GENETICS AND MOLECULAR BIOLOGY 25(1):1-6
de Diego Y; Hmadcha A; Moron F; Lucas M; Carrasco M; Pintado E
Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain
0 0
2232 2 3 2146 2002 JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS 32(1):60-61
Rapin I
Legitimacy of comparing fragile X with autism questioned
0 0
2233 4 53 2149 2002 JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES 43(7):949-957
von Gontard A; Backes M; Laufersweiler-Plass C; Wendland C; Lehmkuhl G; Zerres K; Rudnik-Schoneborn S
Psychopathology and familial stress - comparison of boys with Fragile X syndrome and Spinal Muscular Atrophy
0 0
2234 0 0 2150 2002 JOURNAL OF COGNITIVE NEUROSCIENCE :50-51
Scerif G; Wilding J; Cornish K; Driver J; Humphreys K; Karmiloff-Smith A
Executive control in visual search for multiple targets in toddlers with Fragile X Syndrome
0 0
2235 0 0 2154 2002 JOURNAL OF MEDICAL GENETICS 39:S73-S73
Bilgen T; Keser I; Mihci E; Tacoy S; Haspolat S; Luleci G
Screening of the FMR1 gene (CCG)n expansion by expand long PCR in families with fragile X syndrome in antalya province.
0 0
2236 0 0 2155 2002 JOURNAL OF MEDICAL GENETICS 39:S76-S76
Jani A; Hodsdon P; Churchley K; Crocker M; Stefanou E; Cranston T; Stewart H; Seller A
An atypical week for the Oxford Fragile X service: Two interesting cases
0 0
2237 0 0 2156 2002 JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY 61(5):450-450
Greco CM; Hagerman RJ; Tassone F; Chudley AE; Del Bigio MR; Jacquemont S; Leehey M; Hagerman PJ
Neuronal and astrocytic intranuclear inclusions in Fragile X carriers with cerebellar tremor/ataxia and cognitive changes.
0 0
2238 0 0 2160 2002 LANCET NEUROLOGY 1(3):141-141
May TS
Evidence of altered synaptic plasticity found in fragile X syndrome
0 0
2239 10 14 2165 2002 MICROSCOPY RESEARCH AND TECHNIQUE 57(3):156-158
Churchill JD; Beckel-Mitchener A; Weiler IJ; Greenough WT
Effects of fragile X syndrome and an FMR1 knockout mouse model on forebrain neuronal cell biology
0 0
2240 35 66 2173 2002 MONATSSCHRIFT KINDERHEILKUNDE 150(12):1486-+
Backes M; von Gontard A
Behavioural phenotype of fragile X syndrome
0 0
# LCR NCR Nodes / Date / Journal / Authors LCS GCS
2241 8 16 2175 2002 NATURE MEDICINE 8(11):1204-1205
Hansen RS; Laird CD
A new regulatory pathway for fragile X syndrome?
0 0
2242 2 3 2176 2002 NATURE REVIEWS GENETICS 3(1):4-5
Patterson M
Twin-track approach to fragile X
0 0
2243 0 0 2180 2002 NEUROLOGY 58(6):987-987
Munoz DG
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
0 0
2244 0 0 2181 2002 NEUROLOGY 58(6):987-988
Hagerman RJ; Greco C; Jacquemont S; Leehy M; Hagerman P
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X - Reply
0 0
2245 0 0 2182 2002 NEUROLOGY 58(7):A481-A482
Leehey MA; Brunberg JA; Lang AE; Jacquemont S; Rubinstein D; Greco C; Grigsby J; Tassone F; Hagerman R; Hagerman PJ
MRI increased T2 signal intensity in the cerebellar peduncles: Specific for the fragile X premutation tremor/ataxia syndrome?
0 0
2246 0 0 2183 2002 NEUROLOGY 58(7):A482-A482
Munhoz RP; Lozano AM; Lang AE
Fragile X syndrome premutation mistaken as essential tremor: An unrecognized source of diagnostic confusion
0 0
2247 13 27 2191 2002 PEDIATRICS 109(1)
Flynn BJ; Myers SM; Cera PJ; Mowad JJ
Testicular torsion in an adolescent with fragile X syndrome
0 0
2248 0 0 2197 2002 SCIENTIST 16(20):8-8
Johnston N
Fragile X, an RNAi connection?
0 0
2249 0 0 2201 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):162-162
Jin P; Ceman S; Zarnescu DC; Nakamoto M; Mowrey J; Jongens TA; Nelson DL; Moses K; Warren ST
Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway.
0 0
2250 0 0 2202 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):163-163
Cronister A; Teicher J; Custer T; Rohlfs EM
Prevalence of premutation and intermediate alleles among patients referred for fragile X carrier testing.
0 0
# LCR NCR Nodes / Date / Journal / Authors LCS GCS
2251 0 0 2203 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):163-163
Jacquemont S; Hagerman RJ; Leehey MA; Hall DA; Levine RA; Brunberg JA; Zhang L; Jardini T; Harris SW; Herman K; Berry-Kravis E; Tassone F; Hagerman PJ
Penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) in a premutation carrier population: Initial results from a California family-based study.
0 0
2252 0 0 2204 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):163-163
Jiang Y; Wakui K; Liu Q; Kashork CD; Lehoczky J; Shaffer LG; Beaudet AL
A fragile X mental retardation protein interacting protein maps to the proximal breakpoint of the Prader-Willi syndrome common deletion region.
0 0
2253 0 0 2205 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):266-266
Hagerman RJ; Jacquemont S; Tassone F; Greco C; Brunberg J; Hessl D; Harris S; Zhang L; Jardini T; Ruiz L; Gane L; Hagerman PJ
Fragile X-associated tremor/ataxia syndrome (FXTAS) involvement in females
0 0
2254 0 0 2206 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):296-296
Harris SW; Tassone F; Barbato I; Hagerman RJ
FMRP, FMR1-mRNA, and psychopathology correlations in women with the fragile X premutation.
0 0
2255 0 0 2207 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):314-314
Medne L; Russell K; Ming J; Krantz ID; Souders M; Levy S; Gupta A; Spinner NB; Zackai EH; Morrissette JJD
Subtelomeric FISH analysis in 108 autistic patients as adjunct to chromosome analysis and fragile X testing
0 0
2256 0 0 2208 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):330-330
Herman K; Nowicki S; Tassone F; Koldewyn K; Bacalman S; Jacquemont S; Barboto I; Levine R; Hagerman P; Hagerman R
Correlations between DNA, FMRP, and mRNA levels and ADOS-G and ADI-R scores in patients with Fragile X Syndrome.
0 0
2257 0 0 2209 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):337-337
Nolin SL; Houck GE; Glicksman A; Gargano AD; Brown WT
Large fragile X premutation alleles may often contain two AGG interruptions.
0 0
2258 0 0 2210 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):348-348
Tabolacci E; Pietrobono R; Chiurazzi P; Neri G
Variation of histone acetylation/methylation in the FMR1 gene of the fragile X syndrome following pharmacological reactivation.
0 0
2259 0 0 2211 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):348-348
O'Donnell WT; Ceman S; Warren ST
Phosphorylation of the fragile X mental retardation protein regulates translation of its mRNA ligands.
0 0
2260 0 0 2212 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):372-372
Reddy K
Autism: Incidence of cytogenetic abnormality and fragile-X syndrome.
0 0
# LCR NCR Nodes / Date / Journal / Authors LCS GCS
2261 0 0 2213 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):377-377
Ennis S; Collins A; Morton NE
The use of SNP-based haplotypes and LD blocks to positionally clone modifying determinants of expansion of the Fragile X triplet repeat
0 0
2262 0 0 2214 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):383-383
Rigby AS; Turk J; Mills AC; James N; Hollis C; Cornish K; Dalton A; Manly T
Social functioning in male premutation carriers of Fragile X (FRAX) syndrome
0 0
2263 0 0 2215 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):457-457
Mirakhory M; Aleyassin A
Study of folic acid pathway genes alteration in fragile X syndrome.
0 0
2264 0 0 2216 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):555-555
Di Maria E; Grasso M; Pigullo S; Faravelli F; Abbruzzese G; Barone P; Martinelli P; Ratto S; Sciolla R; Bellone E; Dagna-Bricarelli F; Ajmar F; Mandich P
Further evidence that a tremor/ataxia syndrome may occur in Fragile X premutation carriers: findings from two clinical series.
0 0
2265 0 0 2217 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):557-557
Gantois I; Vandesompele J; Speleman F; D'Hooge R; Severijnen LA; Willemsen R; Tassone F; Kooy RF
Expression profiling reveals involvement of the GABA(A) receptor subunit delta in the fragile X syndrome.
0 0
2266 0 0 2218 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):585-585
Fan H; Booker JK; McCandless SE; Shashi V; Farber RA
Mosaicism for FMR1 gene full mutation and deletion in a fragile X female.
0 0
2267 0 0 2219 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):586-586
Greco CM; Tassone F; Jaquemont S; Hagerman RJ; Sahota PK; Delacourte A; Maurage CA; Hagerman PJ
Intranuclear neuronal inclusions in two female carriers of the fragile X premutation
0 0
2268 0 0 2220 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):587-587
Tassone F; Hagerman RJ; Garcia D; Sahota PK; Khandjian EW; Greco CM; Hagerman PJ
Intranuclear inclusions in fragile X-associated tremor/ataxia syndrome neuronal cells from five premutation carriers.
0 0
2269 6 8 2222 2003 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 116A(1):99-100
Banes SL; Begleiter ML; Butler MG
45,X/46,XY mosaicism and fragile X syndrome
0 0
2270 11 18 2223 2003 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 116A(2):176-178
Stalker HJ; Keller KL; Gray BA; Zori RT
Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-Like phenotype
0 0
# LCR NCR Nodes / Date / Journal / Authors LCS GCS
2271 17 43 2226 2003 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 118A(2):115-121
Symons FJ; Clark RD; Hatton DD; Skinner M; Bailey DB
Self-injurious behavior in young boys with fragile X syndrome
0 0
2272 11 22 2229 2003 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 122A(2):108-114
Heine-Suner D; Torres-Juan L; Morla M; Busquets X; Barcelo F; Pico G; Bonilla L; Govea N; Bernues M; Rosell J
Fragile-X syndrome and skewed X-chromosome inactivation within a family: A female member with complete inactivation of the functional X chromosome
0 0
2273 0 0 2232 2003 AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY 189(6):S117-S117
Musci TJ; Caughey AB
Cost-effectiveness analysis of prenatal population-based fragile X carrier screening
0 0
2274 29 60 2234 2003 AMERICAN JOURNAL ON MENTAL RETARDATION 108(5):314-326
Demark JL; Feldman MA; Holden JJA
Behavioral relationship between autism and fragile X syndrome
0 0
2275 22 50 2235 2003 AMERICAN JOURNAL ON MENTAL RETARDATION 108(6):373-390
Hatton DD; Wheeler AC; Skinner ML; Bailey DB; Sullivan KM; Roberts JE; Mirrett P; Clark RD
Adaptive behavior in children with fragile X syndrome
0 0
2276 9 21 2236 2003 ANNALES DE GENETIQUE 46(1):53-55
Santos CB; Hjalgrim H; Carneiro FRG; Ribeiro M; Boy RT; Pimentel MMG
Concurrence of fragile X and Klinefelter syndromes: report of a new case of paternal nondisjunction
0 0
2277 0 0 2238 2003 ANNALS OF NEUROLOGY 54:S105-S106
Kaufmann WE; Danko CG; Kau ASM; Thevarajah S; Bukelis I; Tierney E; Neuberger I
Increased protein acetylation in lymphocytes predicts autistic behavior in Fragile X syndrome
0 0
2278 0 0 2239 2003 ANNALS OF NEUROLOGY 54:S144-S144
Berry-Kravis E; Potanos K
Clinical response to psychopharmacology for behavior in Fragile X syndrome
0 0
2279 0 0 2240 2003 ANNALS OF NEUROLOGY 54:S150-S150
Berry-Kravis E; Potanos K
Stimulant therapy in fragile X syndrome
0 0
2280 11 15 2241 2003 ARCHIVES DE PEDIATRIE 10(5):401-402
Ramos FJ; Willemsen R
Diagnosis of the Fragile X Syndrome by the analysis of FMRP expression in blood and hair roots
0 0
# LCR NCR Nodes / Date / Journal / Authors LCS GCS
2281 2 12 2243 2003 ARCHIVES OF NEUROLOGY 60(9):1197-1200
Kalidas S; Smith DP
Functional genomics, fragile X syndrome, and RNA interference
0 0
2282 1 26 2244 2003 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 303(1):81-90
Monleon D; Esteve V; Celda B
NMR study of hexanucleotide d(CCGCGG)(2) containing two triplet repeats of fragile X syndrome
0 0
2283 4 6 2247 2003 BIOFUTUR (229):36-37
Nourrit F
Fragile X and interference.
0 0
2284 0 0 2248 2003 BIOLOGICAL PSYCHIATRY 53(8):49S-49S
Daly EM; Moore CJ; Schmitz N; Morris R; Murphy KC; Murphy DG
Expansion of CGG trinucleotide repeats: Effect on neuropsychology of male premutation carriers of Fragile X syndrome
0 0
2285 0 1 2255 2003 CLINICAL GENETICS 64(2):106-108
Leavitt BR
Something lost in the translation: 'premutations' in the FMR1 gene cause Fragile X tremor/ataxia syndrome (FXTAS)
0 0
2286 65 87 2256 2003 CURRENT OPINION IN PEDIATRICS 15(6):559-566
Chiurazzi P; Neri G; Oostra BA
Understanding the biological underpinnings of fragile X syndrome
0 0
2287 37 136 2257 2003 CYTOGENETIC AND GENOME RESEARCH 100(1-4):65-76
Greene E; Handa V; Kumari D; Usdin K
Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia
0 0
2288 88 168 2258 2003 CYTOGENETIC AND GENOME RESEARCH 100(1-4):111-123
Bakker CE; Oostra BA
Understanding fragile X syndrome: insights from animal models
0 0
2289 7 59 2259 2003 CYTOGENETIC AND GENOME RESEARCH 100(1-4):140-146
Fleming K; Riser DK; Kumari D; Usdin K
Instability of the fragile X syndrome repeat in mice: the effect of age, diet and mutations in genes that affect DNA replication, recombination and repair proficiency
0 0
2290 150 233 2262 2003 DEVELOPMENT AND PSYCHOPATHOLOGY 15(4):927-968
Reiss AL; Dant CC
The behavioral neurogenetics of fragile X syndrome: Analyzing gene-brain-behavior relationships in child developmental psychopathologies
0 0
# LCR NCR Nodes / Date / Journal / Authors LCS GCS
2291 0 0 2263 2003 DEVELOPMENTAL BIOLOGY 259(2):528-529
Qin M; Kang J; Smith CB
Increased local rates of cerebral protein synthesis in fragile X knockout mice.
0 0
2292 14 24 2264 2003 EUROPEAN CHILD & ADOLESCENT PSYCHIATRY 12(4):172-177
Sabaratnam M; Murthy NV; Wijeratne A; Buckingham A; Payne S
Autistic-like behaviour profile and psychiatric morbidity in Fragile X Syndrome - A prospective ten-year follow-up study
0 0
2293 26 34 2265 2003 GENETIC TESTING 7(4):303-308
Gasteiger M; Grasbon-Frod E; Neitzel B; Kooy F; Holinski-Feder E
FMR1 gene deletion/reversion: A pitfall of fragile X carrier testing
0 0
2294 19 29 2266 2003 GENETIC TESTING 7(4):339-343
Rife M; Badenas C; Mallolas J; Jimenez L; Cervera R; Maya A; Glover G; Rivera F; Mila M
Incidence of Fragile X in 5,000 consecutive newborn males
0 0
2295 3 7 2267 2003 GENETIC TESTING 7(4):345-346
Adir V; Shahak E; Dar H; Borochowitz ZU
Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for Fragile X syndrome
0 0
2296 20 29 2273 2003 HUMAN REPRODUCTION 18(8):1637-1640
Gersak K; Meden-Vrtovec H; Peterlin B
Fragile X premutation in women with sporadic premature ovarian failure in Slovenia
0 0
2297 45 118 2274 2003 INTERNATIONAL REVIEW OF RESEARCH IN MENTAL RETARDATION, VOL 27 27:83-119
Murphy MM; Abbeduto L
Language and communication in fragile X syndrome
0 0
2298 10 57 2277 2003 JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS 24(4):267-275
Johnston C; Hessl D; Blasey C; Eliez S; Erba H; Dyer-Friedman J; Glaser B; Reiss AL
Factors associated with parenting stress in mothers of children with fragile X syndrome
0 0
2299 0 0 2278 2003 JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS 24(5):393-393
Hansen R; Goodlin-Jones B; Nowicki S; Heeren M; Herman K; Harris S; Bacalman S; Hagerman R
Behavioral phenotypes in older children with autistic spectrum disorders and fragile X: Similarities and differences
0 0
2300 7 32 2279 2003 JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY 28(2):135-144
Richdale AL
A descriptive analysis of sleep behaviour in children with Fragile X
0 0

#	LCR	NCR	Nodes / Date / Journal / Authors	LCS	GCS
2201	0	0	2086 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):373-373 Ennis S; Brightwell G; Collins A; Jacobs P; Morton NE Phylogeny of fragile X haplotypes from an English population.	0	0
2202	0	0	2087 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):377-377 Zabala WM; Nava N; Gonzalez S; Delgado W; Borjas L; Fernandez E; Rojas A; Pineda L Clinical and molecular analysis of the fragile X syndrome in mentally retarded males from the Venezuelan northwestern region.	0	0
2203	0	0	2088 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):384-384 Chen S; Schoof JM; Lemoine CJ; Gordon CL; Scott CR Prevalence survey of the Fragile X E syndrome referred for Fragile X syndrome testing in boys with mental retardation.	0	0
2204	0	0	2089 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):505-505 Dobkin CS; Ding XH; Houck GE; Mitchell E; Brown WT; Nolin SL A rare Eag I polymorphism that may confound fragile X diagnosis.	0	0
2205	0	0	2091 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):518-518 Maranduba CMC; Vianna-Morgante AM; Passos-Bueno MR P172H mutation in the TM4SF2 gene accounts for 1% of non-fragile X mental retardation in Brazilian patients.	0	0
2206	0	0	2092 2002 AMERICAN JOURNAL OF HUMAN GENETICS 71(4):523-523 Bastaki LA; Al-Awadi SA; Hegazi FA; Turky NA; Mustafa MA; Naguib KA PCR technique and significance in fragile X syndrome.	0	0
2207	12	32	2097 2002 AMERICAN JOURNAL OF MEDICAL GENETICS 110(1):36-44 McConkie-Rosell A; Spiridigliozzi GA; Sullivan JA; Dawson DV; Lachiewicz AM Carrier testing in fragile X syndrome: When to tell and test	0	0
2208	3	36	2100 2002 AMERICAN JOURNAL OF MEDICAL GENETICS 111(4):381-387 Steinhausen HC; von Gontard A; Spohr HL; Hauffa BP; Eiholzer U; Backes M; Willms J; Malin Z Behavioral phenotypes in four mental retardation syndromes: Fetal alcohol syndrome, Prader-Willi syndrome, fragile X syndrome, and tuberosis sclerosis	0	0
2209	0	0	2101 2002 AMERICAN JOURNAL OF MEDICAL GENETICS 114(7):833-833 Steyaert J; Borghgraef M; Fryns JP A distinct neurocognitive phenotype in female fragile X premutation carriers	0	0
2210	17	42	2104 2002 AMERICAN JOURNAL OF SPEECH-LANGUAGE PATHOLOGY 11(4):295-304 Roberts JE; Mirrett P; Anderson K; Burchinal M; Neebe E Early communication, symbolic behavior, and social profiles of young males with fragile X syndrome	0	0
#	LCR	NCR	Nodes / Date / Journal / Authors	LCS	GCS
2211	0	0	2105 2002 ANNALS OF NEUROLOGY 52(3):S86-S86 Berry-Kravis E; Lewin F; Wuu J; Leehey M; Hagerman R; Hagerman P; Goetz C Tremor and ataxia in adult fragile X premutation carriers: Blinded videotape evaluation	0	0
2212	17	30	2108 2002 ARQUIVOS DE NEURO-PSIQUIATRIA 60(4):981-985 Yonamine SM; da Silva AA Characteristics of the communication in individuals with fragile X syndrome	0	0
2213	0	0	2122 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:55-56 Carmichael B Fragile X Syndrome - its impact on families	0	0
2214	0	0	2123 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:63-63 Hagerman PJ; Greco CM; Tassone F; Chudley A; Del Bigio MR; Jacquemont S; Leehey M; Hagerman RJ Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers	0	0
2215	0	0	2124 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:220-220 Loesch DZ Effect of prennutation in the FMR1 gene on cognitive and physical phenotype in fragile X assessed by pedigree analysis.	0	0
2216	0	0	2125 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:220-220 Afifi HH; Abdel-Aleem AK; Shaheen OO Fragile X syndrome: clinical and behavioral study.	0	0
2217	0	0	2126 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:227-227 Steinbach P; Jakubiczka S; Bettecken T X inactivation and fragile X methylation in human placentas	0	0
2218	0	0	2127 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:228-228 Tzeng C; Chen W; Huang K Prevalence of fragile-X female carrier in Taiwan is lower than expected	0	0
2219	0	0	2128 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:228-229 Biancalana V; Beldjord C; de Martinville B; Bieth E; Blayau M; Bonnefont J; Creveaux I; Cusin V; Doco-Fenzy M; Fellmann F; Gerson F; Guiochon-Mantel A; Houdayer C; Kottler M; Lesca G; Philippe C; Prieur F; Puissant H; Raynaud M; Saugier-Veber P; Taillandier A; Taine L; Voelckel M 5 years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study of 22 laboratories in France.	0	0
2220	0	0	2129 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:229-229 Hasanzad M; Amini SH; Taghizadeh F; Teimourian S; Karimi-Nejad R; Shafeghati Y; Karimi-Nejad M; Najmabadi H Analysis of FMR 1 methylation in Fragile X syndrome in Iranian population	0	0
#	LCR	NCR	Nodes / Date / Journal / Authors	LCS	GCS
2221	0	0	2130 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:229-229 Gryschenko NV; Malarchuk SG; Livshits LA CGG-repeat expansion and metilation status of the promotor region of FMR1 gene analysis in the Fragile-X sindrome patients from Ukraine	0	0
2222	0	0	2131 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:229-229 Deelen WH; Jansen C; Ramlakhan SR; Labrijn-Marks I; Olmer R; Dooijes D; vanden Ouweland AMW; Halley DJJ Five years experience with DIG labeled probes on Southern blots applied in Fragile X diagnostics	0	0
2223	2	2	2132 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:231-231 Bardoni B; Schenck A; van de Bor V; Giangrande A; Mandel J Drosophila as a model to study the physiological pathway in which FMRP (Fragile X Mental Retardation Protein) is involved	0	0
2224	0	0	2133 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:231-231 Zalfa F; Primerano B; Lauro C; Giorgi M; Moro A; Spinelli G; Tongiorgi E; Costra B; Amaldi F; Bagni C Towards an understanding of the Fragile X syndrome: FMRP is translated at the synapses where it acts as a translational regulator	0	0
2225	0	0	2134 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:231-231 Gantois I; Reyniers E; Kooy F Differential gene expression in the fragile X mouse model	0	0
2226	0	0	2135 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:231-232 Pietrobono R; Pomponi MG; Tabolacci E; Oostra B; Chiurazzi P; Neri G Quantitative analysis of DNA demethylation and trascriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine	0	0
2227	0	0	2136 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:232-232 McKelvie KB; Reynolds A; Tassone F; Taylor AK; Hagerman RJ Evidence for skewed X chromosome inactivation in females with the fragile X full mutation	0	0
2228	0	0	2137 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:323-323 Wilson R; Epstein JH; McKelvie K; Grisgby J; Nagamoto H; Harris S; Reynolds A; Hagerman R Psychological and neuropsychological findings in adults with the premutation and full mutation for Fragile X Syndrome	0	0
2229	0	0	2138 2002 EUROPEAN JOURNAL OF HUMAN GENETICS 10:323-323 O'Connor R; Riley K; Epstein J; Wilson R; McKelvie K; Reynolds A; Hagerman R; Levine R Analysis of ADHD subtypes in Fragile X syndrome	0	0
2230	0	0	2141 2002 GENETIC COUNSELING 13(2):207-261 [Anon] Abstracts of the 10th International Workshop on Fragile X and X-Linked Mental Retardation - 19-22 September 2001, Frascati, Italy	0	0
#	LCR	NCR	Nodes / Date / Journal / Authors	LCS	GCS
2231	29	49	2142 2002 GENETICS AND MOLECULAR BIOLOGY 25(1):1-6 de Diego Y; Hmadcha A; Moron F; Lucas M; Carrasco M; Pintado E Fragile X founder effect and distribution of CGG repeats among the mentally retarded population of Andalusia, South Spain	0	0
2232	2	3	2146 2002 JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS 32(1):60-61 Rapin I Legitimacy of comparing fragile X with autism questioned	0	0
2233	4	53	2149 2002 JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES 43(7):949-957 von Gontard A; Backes M; Laufersweiler-Plass C; Wendland C; Lehmkuhl G; Zerres K; Rudnik-Schoneborn S Psychopathology and familial stress - comparison of boys with Fragile X syndrome and Spinal Muscular Atrophy	0	0
2234	0	0	2150 2002 JOURNAL OF COGNITIVE NEUROSCIENCE :50-51 Scerif G; Wilding J; Cornish K; Driver J; Humphreys K; Karmiloff-Smith A Executive control in visual search for multiple targets in toddlers with Fragile X Syndrome	0	0
2235	0	0	2154 2002 JOURNAL OF MEDICAL GENETICS 39:S73-S73 Bilgen T; Keser I; Mihci E; Tacoy S; Haspolat S; Luleci G Screening of the FMR1 gene (CCG)n expansion by expand long PCR in families with fragile X syndrome in antalya province.	0	0
2236	0	0	2155 2002 JOURNAL OF MEDICAL GENETICS 39:S76-S76 Jani A; Hodsdon P; Churchley K; Crocker M; Stefanou E; Cranston T; Stewart H; Seller A An atypical week for the Oxford Fragile X service: Two interesting cases	0	0
2237	0	0	2156 2002 JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY 61(5):450-450 Greco CM; Hagerman RJ; Tassone F; Chudley AE; Del Bigio MR; Jacquemont S; Leehey M; Hagerman PJ Neuronal and astrocytic intranuclear inclusions in Fragile X carriers with cerebellar tremor/ataxia and cognitive changes.	0	0
2238	0	0	2160 2002 LANCET NEUROLOGY 1(3):141-141 May TS Evidence of altered synaptic plasticity found in fragile X syndrome	0	0
2239	10	14	2165 2002 MICROSCOPY RESEARCH AND TECHNIQUE 57(3):156-158 Churchill JD; Beckel-Mitchener A; Weiler IJ; Greenough WT Effects of fragile X syndrome and an FMR1 knockout mouse model on forebrain neuronal cell biology	0	0
2240	35	66	2173 2002 MONATSSCHRIFT KINDERHEILKUNDE 150(12):1486-+ Backes M; von Gontard A Behavioural phenotype of fragile X syndrome	0	0
#	LCR	NCR	Nodes / Date / Journal / Authors	LCS	GCS
2241	8	16	2175 2002 NATURE MEDICINE 8(11):1204-1205 Hansen RS; Laird CD A new regulatory pathway for fragile X syndrome?	0	0
2242	2	3	2176 2002 NATURE REVIEWS GENETICS 3(1):4-5 Patterson M Twin-track approach to fragile X	0	0
2243	0	0	2180 2002 NEUROLOGY 58(6):987-987 Munoz DG Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X	0	0
2244	0	0	2181 2002 NEUROLOGY 58(6):987-988 Hagerman RJ; Greco C; Jacquemont S; Leehy M; Hagerman P Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X - Reply	0	0
2245	0	0	2182 2002 NEUROLOGY 58(7):A481-A482 Leehey MA; Brunberg JA; Lang AE; Jacquemont S; Rubinstein D; Greco C; Grigsby J; Tassone F; Hagerman R; Hagerman PJ MRI increased T2 signal intensity in the cerebellar peduncles: Specific for the fragile X premutation tremor/ataxia syndrome?	0	0
2246	0	0	2183 2002 NEUROLOGY 58(7):A482-A482 Munhoz RP; Lozano AM; Lang AE Fragile X syndrome premutation mistaken as essential tremor: An unrecognized source of diagnostic confusion	0	0
2247	13	27	2191 2002 PEDIATRICS 109(1) Flynn BJ; Myers SM; Cera PJ; Mowad JJ Testicular torsion in an adolescent with fragile X syndrome	0	0
2248	0	0	2197 2002 SCIENTIST 16(20):8-8 Johnston N Fragile X, an RNAi connection?	0	0
2249	0	0	2201 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):162-162 Jin P; Ceman S; Zarnescu DC; Nakamoto M; Mowrey J; Jongens TA; Nelson DL; Moses K; Warren ST Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA pathway.	0	0
2250	0	0	2202 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):163-163 Cronister A; Teicher J; Custer T; Rohlfs EM Prevalence of premutation and intermediate alleles among patients referred for fragile X carrier testing.	0	0
#	LCR	NCR	Nodes / Date / Journal / Authors	LCS	GCS
2251	0	0	2203 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):163-163 Jacquemont S; Hagerman RJ; Leehey MA; Hall DA; Levine RA; Brunberg JA; Zhang L; Jardini T; Harris SW; Herman K; Berry-Kravis E; Tassone F; Hagerman PJ Penetrance of the fragile X-associated tremor/ataxia syndrome (FXTAS) in a premutation carrier population: Initial results from a California family-based study.	0	0
2252	0	0	2204 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):163-163 Jiang Y; Wakui K; Liu Q; Kashork CD; Lehoczky J; Shaffer LG; Beaudet AL A fragile X mental retardation protein interacting protein maps to the proximal breakpoint of the Prader-Willi syndrome common deletion region.	0	0
2253	0	0	2205 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):266-266 Hagerman RJ; Jacquemont S; Tassone F; Greco C; Brunberg J; Hessl D; Harris S; Zhang L; Jardini T; Ruiz L; Gane L; Hagerman PJ Fragile X-associated tremor/ataxia syndrome (FXTAS) involvement in females	0	0
2254	0	0	2206 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):296-296 Harris SW; Tassone F; Barbato I; Hagerman RJ FMRP, FMR1-mRNA, and psychopathology correlations in women with the fragile X premutation.	0	0
2255	0	0	2207 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):314-314 Medne L; Russell K; Ming J; Krantz ID; Souders M; Levy S; Gupta A; Spinner NB; Zackai EH; Morrissette JJD Subtelomeric FISH analysis in 108 autistic patients as adjunct to chromosome analysis and fragile X testing	0	0
2256	0	0	2208 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):330-330 Herman K; Nowicki S; Tassone F; Koldewyn K; Bacalman S; Jacquemont S; Barboto I; Levine R; Hagerman P; Hagerman R Correlations between DNA, FMRP, and mRNA levels and ADOS-G and ADI-R scores in patients with Fragile X Syndrome.	0	0
2257	0	0	2209 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):337-337 Nolin SL; Houck GE; Glicksman A; Gargano AD; Brown WT Large fragile X premutation alleles may often contain two AGG interruptions.	0	0
2258	0	0	2210 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):348-348 Tabolacci E; Pietrobono R; Chiurazzi P; Neri G Variation of histone acetylation/methylation in the FMR1 gene of the fragile X syndrome following pharmacological reactivation.	0	0
2259	0	0	2211 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):348-348 O'Donnell WT; Ceman S; Warren ST Phosphorylation of the fragile X mental retardation protein regulates translation of its mRNA ligands.	0	0
2260	0	0	2212 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):372-372 Reddy K Autism: Incidence of cytogenetic abnormality and fragile-X syndrome.	0	0
#	LCR	NCR	Nodes / Date / Journal / Authors	LCS	GCS
2261	0	0	2213 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):377-377 Ennis S; Collins A; Morton NE The use of SNP-based haplotypes and LD blocks to positionally clone modifying determinants of expansion of the Fragile X triplet repeat	0	0
2262	0	0	2214 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):383-383 Rigby AS; Turk J; Mills AC; James N; Hollis C; Cornish K; Dalton A; Manly T Social functioning in male premutation carriers of Fragile X (FRAX) syndrome	0	0
2263	0	0	2215 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):457-457 Mirakhory M; Aleyassin A Study of folic acid pathway genes alteration in fragile X syndrome.	0	0
2264	0	0	2216 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):555-555 Di Maria E; Grasso M; Pigullo S; Faravelli F; Abbruzzese G; Barone P; Martinelli P; Ratto S; Sciolla R; Bellone E; Dagna-Bricarelli F; Ajmar F; Mandich P Further evidence that a tremor/ataxia syndrome may occur in Fragile X premutation carriers: findings from two clinical series.	0	0
2265	0	0	2217 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):557-557 Gantois I; Vandesompele J; Speleman F; D'Hooge R; Severijnen LA; Willemsen R; Tassone F; Kooy RF Expression profiling reveals involvement of the GABA(A) receptor subunit delta in the fragile X syndrome.	0	0
2266	0	0	2218 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):585-585 Fan H; Booker JK; McCandless SE; Shashi V; Farber RA Mosaicism for FMR1 gene full mutation and deletion in a fragile X female.	0	0
2267	0	0	2219 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):586-586 Greco CM; Tassone F; Jaquemont S; Hagerman RJ; Sahota PK; Delacourte A; Maurage CA; Hagerman PJ Intranuclear neuronal inclusions in two female carriers of the fragile X premutation	0	0
2268	0	0	2220 2003 AMERICAN JOURNAL OF HUMAN GENETICS 73(5):587-587 Tassone F; Hagerman RJ; Garcia D; Sahota PK; Khandjian EW; Greco CM; Hagerman PJ Intranuclear inclusions in fragile X-associated tremor/ataxia syndrome neuronal cells from five premutation carriers.	0	0
2269	6	8	2222 2003 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 116A(1):99-100 Banes SL; Begleiter ML; Butler MG 45,X/46,XY mosaicism and fragile X syndrome	0	0
2270	11	18	2223 2003 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 116A(2):176-178 Stalker HJ; Keller KL; Gray BA; Zori RT Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-Like phenotype	0	0
#	LCR	NCR	Nodes / Date / Journal / Authors	LCS	GCS
2271	17	43	2226 2003 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 118A(2):115-121 Symons FJ; Clark RD; Hatton DD; Skinner M; Bailey DB Self-injurious behavior in young boys with fragile X syndrome	0	0
2272	11	22	2229 2003 AMERICAN JOURNAL OF MEDICAL GENETICS PART A 122A(2):108-114 Heine-Suner D; Torres-Juan L; Morla M; Busquets X; Barcelo F; Pico G; Bonilla L; Govea N; Bernues M; Rosell J Fragile-X syndrome and skewed X-chromosome inactivation within a family: A female member with complete inactivation of the functional X chromosome	0	0
2273	0	0	2232 2003 AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY 189(6):S117-S117 Musci TJ; Caughey AB Cost-effectiveness analysis of prenatal population-based fragile X carrier screening	0	0
2274	29	60	2234 2003 AMERICAN JOURNAL ON MENTAL RETARDATION 108(5):314-326 Demark JL; Feldman MA; Holden JJA Behavioral relationship between autism and fragile X syndrome	0	0
2275	22	50	2235 2003 AMERICAN JOURNAL ON MENTAL RETARDATION 108(6):373-390 Hatton DD; Wheeler AC; Skinner ML; Bailey DB; Sullivan KM; Roberts JE; Mirrett P; Clark RD Adaptive behavior in children with fragile X syndrome	0	0
2276	9	21	2236 2003 ANNALES DE GENETIQUE 46(1):53-55 Santos CB; Hjalgrim H; Carneiro FRG; Ribeiro M; Boy RT; Pimentel MMG Concurrence of fragile X and Klinefelter syndromes: report of a new case of paternal nondisjunction	0	0
2277	0	0	2238 2003 ANNALS OF NEUROLOGY 54:S105-S106 Kaufmann WE; Danko CG; Kau ASM; Thevarajah S; Bukelis I; Tierney E; Neuberger I Increased protein acetylation in lymphocytes predicts autistic behavior in Fragile X syndrome	0	0
2278	0	0	2239 2003 ANNALS OF NEUROLOGY 54:S144-S144 Berry-Kravis E; Potanos K Clinical response to psychopharmacology for behavior in Fragile X syndrome	0	0
2279	0	0	2240 2003 ANNALS OF NEUROLOGY 54:S150-S150 Berry-Kravis E; Potanos K Stimulant therapy in fragile X syndrome	0	0
2280	11	15	2241 2003 ARCHIVES DE PEDIATRIE 10(5):401-402 Ramos FJ; Willemsen R Diagnosis of the Fragile X Syndrome by the analysis of FMRP expression in blood and hair roots	0	0
#	LCR	NCR	Nodes / Date / Journal / Authors	LCS	GCS
2281	2	12	2243 2003 ARCHIVES OF NEUROLOGY 60(9):1197-1200 Kalidas S; Smith DP Functional genomics, fragile X syndrome, and RNA interference	0	0
2282	1	26	2244 2003 BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS 303(1):81-90 Monleon D; Esteve V; Celda B NMR study of hexanucleotide d(CCGCGG)(2) containing two triplet repeats of fragile X syndrome	0	0
2283	4	6	2247 2003 BIOFUTUR (229):36-37 Nourrit F Fragile X and interference.	0	0
2284	0	0	2248 2003 BIOLOGICAL PSYCHIATRY 53(8):49S-49S Daly EM; Moore CJ; Schmitz N; Morris R; Murphy KC; Murphy DG Expansion of CGG trinucleotide repeats: Effect on neuropsychology of male premutation carriers of Fragile X syndrome	0	0
2285	0	1	2255 2003 CLINICAL GENETICS 64(2):106-108 Leavitt BR Something lost in the translation: 'premutations' in the FMR1 gene cause Fragile X tremor/ataxia syndrome (FXTAS)	0	0
2286	65	87	2256 2003 CURRENT OPINION IN PEDIATRICS 15(6):559-566 Chiurazzi P; Neri G; Oostra BA Understanding the biological underpinnings of fragile X syndrome	0	0
2287	37	136	2257 2003 CYTOGENETIC AND GENOME RESEARCH 100(1-4):65-76 Greene E; Handa V; Kumari D; Usdin K Transcription defects induced by repeat expansion: fragile X syndrome, FRAXE mental retardation, progressive myoclonus epilepsy type 1, and Friedreich ataxia	0	0
2288	88	168	2258 2003 CYTOGENETIC AND GENOME RESEARCH 100(1-4):111-123 Bakker CE; Oostra BA Understanding fragile X syndrome: insights from animal models	0	0
2289	7	59	2259 2003 CYTOGENETIC AND GENOME RESEARCH 100(1-4):140-146 Fleming K; Riser DK; Kumari D; Usdin K Instability of the fragile X syndrome repeat in mice: the effect of age, diet and mutations in genes that affect DNA replication, recombination and repair proficiency	0	0
2290	150	233	2262 2003 DEVELOPMENT AND PSYCHOPATHOLOGY 15(4):927-968 Reiss AL; Dant CC The behavioral neurogenetics of fragile X syndrome: Analyzing gene-brain-behavior relationships in child developmental psychopathologies	0	0
#	LCR	NCR	Nodes / Date / Journal / Authors	LCS	GCS
2291	0	0	2263 2003 DEVELOPMENTAL BIOLOGY 259(2):528-529 Qin M; Kang J; Smith CB Increased local rates of cerebral protein synthesis in fragile X knockout mice.	0	0
2292	14	24	2264 2003 EUROPEAN CHILD & ADOLESCENT PSYCHIATRY 12(4):172-177 Sabaratnam M; Murthy NV; Wijeratne A; Buckingham A; Payne S Autistic-like behaviour profile and psychiatric morbidity in Fragile X Syndrome - A prospective ten-year follow-up study	0	0
2293	26	34	2265 2003 GENETIC TESTING 7(4):303-308 Gasteiger M; Grasbon-Frod E; Neitzel B; Kooy F; Holinski-Feder E FMR1 gene deletion/reversion: A pitfall of fragile X carrier testing	0	0
2294	19	29	2266 2003 GENETIC TESTING 7(4):339-343 Rife M; Badenas C; Mallolas J; Jimenez L; Cervera R; Maya A; Glover G; Rivera F; Mila M Incidence of Fragile X in 5,000 consecutive newborn males	0	0
2295	3	7	2267 2003 GENETIC TESTING 7(4):345-346 Adir V; Shahak E; Dar H; Borochowitz ZU Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for Fragile X syndrome	0	0
2296	20	29	2273 2003 HUMAN REPRODUCTION 18(8):1637-1640 Gersak K; Meden-Vrtovec H; Peterlin B Fragile X premutation in women with sporadic premature ovarian failure in Slovenia	0	0
2297	45	118	2274 2003 INTERNATIONAL REVIEW OF RESEARCH IN MENTAL RETARDATION, VOL 27 27:83-119 Murphy MM; Abbeduto L Language and communication in fragile X syndrome	0	0
2298	10	57	2277 2003 JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS 24(4):267-275 Johnston C; Hessl D; Blasey C; Eliez S; Erba H; Dyer-Friedman J; Glaser B; Reiss AL Factors associated with parenting stress in mothers of children with fragile X syndrome	0	0
2299	0	0	2278 2003 JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS 24(5):393-393 Hansen R; Goodlin-Jones B; Nowicki S; Heeren M; Herman K; Harris S; Bacalman S; Hagerman R Behavioral phenotypes in older children with autistic spectrum disorders and fragile X: Similarities and differences	0	0
2300	7	32	2279 2003 JOURNAL OF INTELLECTUAL & DEVELOPMENTAL DISABILITY 28(2):135-144 Richdale AL A descriptive analysis of sleep behaviour in children with Fragile X	0	0

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