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Nodes: 2369
Authors: 4634,
Journals: 373,
Outer References: 14152
Collection span: 1980 - 2004
View: Overview. Sorted by NCR.
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| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
|---|---|---|---|---|---|
| 2301 | 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 |
| 2302 | 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 |
| 2303 | 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 |
| 2304 | 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 |
| 2305 | 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 |
| 2306 | 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 |
| 2307 | 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 |
| 2308 | 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 |
| 2309 | 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 |
| 2310 | 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 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 2311 | 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 |
| 2312 | 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 |
| 2313 | 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 |
| 2314 | 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 |
| 2315 | 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 |
| 2316 | 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 |
| 2317 | 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 |
| 2318 | 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 |
| 2319 | 0 | 0 | 2159 2002 JOURNAL OF THE AMERICAN GERIATRICS SOCIETY 50(4):S48-S48 Grigsby J; Leehey M; Hagerman RJ; Epstein J; Wilson R; Jacquemont S; Greco C; Brunberg J; Tassone F; Hagerman P Dementia and a tremor-ataxia disorder among older male carriers of the fragile X premutation. | 0 | 1 |
| 2320 | 0 | 0 | 2160 2002 LANCET NEUROLOGY 1(3):141-141 May TS Evidence of altered synaptic plasticity found in fragile X syndrome | 0 | 0 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 2321 | 0 | 0 | 2174 2002 MOVEMENT DISORDERS 17:S351-S351 Leehey MA; Grigsby J; Rubinstein D; Jacquemont S; Greco C; Zhang L Parkinsonism, tremor and ataxia in a female fragile X carrier | 1 | 1 |
| 2322 | 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 |
| 2323 | 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 |
| 2324 | 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 |
| 2325 | 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 |
| 2326 | 0 | 0 | 2197 2002 SCIENTIST 16(20):8-8 Johnston N Fragile X, an RNAi connection? | 0 | 0 |
| 2327 | 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 |
| 2328 | 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 |
| 2329 | 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 |
| 2330 | 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 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 2331 | 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 |
| 2332 | 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 |
| 2333 | 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 |
| 2334 | 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 |
| 2335 | 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 |
| 2336 | 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 |
| 2337 | 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 |
| 2338 | 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 |
| 2339 | 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 |
| 2340 | 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 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 2341 | 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 |
| 2342 | 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 |
| 2343 | 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 |
| 2344 | 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 |
| 2345 | 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 |
| 2346 | 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 |
| 2347 | 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 |
| 2348 | 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 |
| 2349 | 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 |
| 2350 | 0 | 0 | 2240 2003 ANNALS OF NEUROLOGY 54:S150-S150 Berry-Kravis E; Potanos K Stimulant therapy in fragile X syndrome | 0 | 0 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 2351 | 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 |
| 2352 | 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 |
| 2353 | 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 |
| 2354 | 0 | 0 | 2280 2003 JOURNAL OF MEDICAL GENETICS 40:S15-S15 Ennis S; Collins A; Morton NE SNP-based haplotypes and LD blocks in the fragile X region | 0 | 0 |
| 2355 | 0 | 0 | 2281 2003 JOURNAL OF MEDICAL GENETICS 40:S49-S49 Dalton A; Mills AC; Rigby A; Manly T; Hollis C; Turk J; Cornish K The neuropsychological phenotype of fragile X premutation males | 0 | 0 |
| 2356 | 0 | 0 | 2282 2003 JOURNAL OF MEDICAL GENETICS 40:S80-S80 Payne S; Powell CM Fragile-X intermediate alleles - instability and inconclusion | 0 | 0 |
| 2357 | 0 | 0 | 2285 2003 JOURNAL OF NEUROCHEMISTRY 85:1-1 Huber KM Recent progress in understanding the neural mechanisms of Fragile X Syndrome | 0 | 0 |
| 2358 | 0 | 0 | 2287 2003 JOURNAL OF PSYCHOSOMATIC RESEARCH 55(2):156-156 Mirzaei M; Karam GA; Mahmoudi M Evaluation of prevalence the fragile X syndrome in 52 patients with moderate mental retardation with cytogenetic methods. | 0 | 0 |
| 2359 | 0 | 0 | 2292 2003 MOVEMENT DISORDERS 18(9):1091-1091 Kraft S; Parboosingh J; Suchowersky O Absence of fragile X premutation alleles in patients referred with spinocerebellar ataxia | 0 | 0 |
| 2360 | 0 | 0 | 2328 2004 GENETIC COUNSELING 15(2):239-286 [Anon] Abstracts of the 11(th) International Workshop on Fragile X and X-Linked Mental Retardation - 27-30 August 2003, Pafos, Cyprus | 0 | 0 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 2361 | 0 | 0 | 2337 2004 JOURNAL OF INVESTIGATIVE MEDICINE 52(1):S101-S101 Nowicki ST; Jacquemont S; Li L; Nguyen DV; Gregg JP; Hagerman RJ; Hagerman PJ An approach to identify epistatic genes involved in the development of autism spectrum disorder in patients with fragile X syndrome | 0 | 0 |
| 2362 | 0 | 0 | 2342 2004 MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS 10(1):1-2 Crnic LS; Hagerman R Preface: Fragile X syndrome: Frontiers of understanding gene-brain-behavior relationships | 0 | 0 |
| 2363 | 0 | 0 | 2354 2004 MOVEMENT DISORDERS 19:S20-S20 Zhao Y; Puong K; Law H; Wong M; Ng I; Tan E Fragile X premutation alleles in patients with sporadic cerebellar ataxia | 0 | 0 |
| 2364 | 0 | 0 | 2355 2004 MOVEMENT DISORDERS 19:S21-S21 Hall DA; Pelak VS; Hagerman RJ; Hagerman PJ; Leehey MA Ocular motility in Fragile X premutation carriers and Fragile X associated tremor/ataxia syndrome (FXTAS) | 0 | 0 |
| 2365 | 0 | 0 | 2356 2004 MOVEMENT DISORDERS 19:S338-S338 Leehey MA; Berry-Kravis E; Jacquemont S; Zhang L; Hagerman R; Hagerman PJ Misdiagnosis of fragile X associated tremor/ataxia syndrome (FXTAS) | 0 | 0 |
| 2366 | 0 | 0 | 2357 2004 MOVEMENT DISORDERS 19:S339-S339 Leehey MA; Zhang L; Wheelock V; Tassone F; Hagerman R; Hagerman P A preliminary observation: Increased frequency of fragile X expanded alleles in patients that meet diagnostic criteria for MSA | 0 | 0 |
| 2367 | 0 | 0 | 2358 2004 MOVEMENT DISORDERS 19:S359-S360 Di Maria E; Grasso M; Abbruzzese G; Mandich P; Ratto S; Sciolla R The role for Fragile X premutation in essential tremor and spinocerebellar ataxia: Findings from two cohorts of Italian patients | 0 | 0 |
| 2368 | 0 | 0 | 2359 2004 MOVEMENT DISORDERS 19:S444-S444 Puong K; Zhao Y; Law H; Wong M; Ng I; Tan E Screening for Fragile X premutation alleles in patients with essential tremor | 0 | 0 |
| 2369 | 0 | 0 | 2362 2004 NEUROLOGY 62(7):A48-A48 Hagerman PJ; Jacquemont S; Hagerman RJ; Leehey MA; Hall DA; Levine RA; Brunberg JA; Zhang L; Jardini T; Gane LW; Harris SW; Herman K; Grigsby J; Greco CM; Berry-Kravis E; Tassone F 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 |
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