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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 |
|---|---|---|---|---|---|
| 901 | 10 | 22 | 1327 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):223-229 King RA; Hagerman R; Houghton M Ocular findings in fragile X syndrome | 1 | 1 |
| 902 | 4 | 22 | 1593 1997 HUMAN HEREDITY 47(5):254-262 Gurling HMD; Bolton PF; Vincent J; Melmer G; Rutter M Molecular and cytogenetic investigations of the fragile X region including the Frax A and Frax E CGG trinucleotide repeat sequences in families multiplex for autism and related phenotypes | 0 | 7 |
| 903 | 8 | 22 | 1632 1997 ZHURNAL NEVROPATOLOGII I PSIKHIATRII IMENI S S KORSAKOVA 97(8):33-37 Gorbachevskaya NL; Denisova LV Bioelectric brain activity in patients with syndrome of fragile X-chromosome and in their mothers | 0 | 1 |
| 904 | 14 | 22 | 1668 1998 INDIAN JOURNAL OF MEDICAL RESEARCH 107:29-36 Baskaran S; Naseerullah MK; Manjunatha KR; Chetan GK; Arthi R; Rao GVB; Girimaji SR; Srinath S; Sheshadri S; Devi RR; Brahmachari V Triplet repeat polymorphism & fragile X syndrome in the Indian context | 2 | 6 |
| 905 | 10 | 22 | 1735 1999 AMERICAN JOURNAL OF MEDICAL GENETICS 83(4):318-321 Linden MG; Tassone F; Gane LW; Hills JL; Hagerman RJ; Taylor AK Compound heterozygous female with fragile X syndrome | 0 | 1 |
| 906 | 17 | 22 | 1751 1999 AMERICAN JOURNAL OF MEDICAL GENETICS 84(3):229-232 Petek E; Kroisel PM; Schuster M; Zierler H; Wagner K Mosaicism in a fragile X male including a de novo deletion in the FMR1 gene | 1 | 1 |
| 907 | 16 | 22 | 1809 1999 JOURNAL OF MEDICAL GENETICS 36(6):467-470 de Vries BBA; Mohkamsing S; van den Ouweland AMW; Mol E; Gelsema K; van Rijn M; Tibben A; Halley DJJ; Duivenvoorden HJ; Oostra BA; Niermeijer MF; Collaborative Fragile X Study Grp Screening for the fragile X syndrome among the mentally retarded: a clinical study | 2 | 8 |
| 908 | 8 | 22 | 1852 2000 AMERICAN JOURNAL OF MEDICAL GENETICS 92(5):336-342 McConkie-Rosell A; Spiridigliozzi GA; Sullivan JA; Dawson DV; Lachiewicz AM Carrier testing in fragile X syndrome: Effect on self-concept | 2 | 4 |
| 909 | 19 | 22 | 2058 2001 REVISTA DE NEUROLOGIA 33:S9-S13 Ramos-Fuentes FJ New methods for the diagnosis of fragile X syndrome: A study of the FMRP in blood and hair | 0 | 0 |
| 910 | 18 | 22 | 2192 2002 PRENATAL DIAGNOSIS 22(6):459-462 Rife M; Mallolas J; Badenas C; Tazon B; Miguelez MR; Pampols T; Sanchez A; Mila M Pilot study for the neonatal screening of fragile X syndrome | 3 | 3 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 911 | 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 |
| 912 | 18 | 22 | 2283 2003 JOURNAL OF MEDICAL GENETICS 40(5):377-379 Willemsen R; Smits A; Severijnen LA; Jansen M; Jacobs A; De Bruyn E; Oostra B Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis | 3 | 3 |
| 913 | 0 | 21 | 85 1982 WIENER KLINISCHE WOCHENSCHRIFT 94(8):217-219 FONATSCH C; FLATZ SD FRAGILE X-CHROMOSOME AND X-LINKED MENTAL-RETARDATION | 1 | 1 |
| 914 | 7 | 21 | 158 1983 PRENATAL DIAGNOSIS 3(2):131-137 WEBB T; GOSDEN CM; RODECK CH; HAMILL MA; EASON PE PRENATAL-DIAGNOSIS OF X-LINKED MENTAL-RETARDATION WITH FRAGILE (X) USING FETOSCOPY AND FETAL BLOOD-SAMPLING | 16 | 32 |
| 915 | 6 | 21 | 396 1986 JOURNAL OF MENTAL DEFICIENCY RESEARCH 30:27-39 GILLBERG C; PERSSON E; WAHLSTROM J THE AUTISM-FRAGILE-X SYNDROME (AFRAX) - A POPULATION-BASED STUDY OF 10 BOYS | 14 | 24 |
| 916 | 5 | 21 | 470 1987 JOURNAL OF MEDICAL GENETICS 24(1):32-38 VEENEMA H; VEENEMA T; GERAEDTS JPM THE FRAGILE X-SYNDROME IN A LARGE FAMILY .2. PSYCHOLOGICAL INVESTIGATIONS | 28 | 39 |
| 917 | 7 | 21 | 549 1988 AMERICAN JOURNAL OF MEDICAL GENETICS 30(1-2):681-688 WARREN ST FRAGILE-X SYNDROME - A HYPOTHESIS REGARDING THE MOLECULAR MECHANISM OF THE PHENOTYPE | 5 | 6 |
| 918 | 7 | 21 | 574 1988 CLINICAL GENETICS 34(4):265-271 ANVRET M; GILLBERG C; WAHLSTROM J; ALBERTSSONWIKLAND K; DAVIES K INFANTILE-AUTISM, FRAGILE (X) (Q27.3) AND RFLP ANALYSIS IN AN EXTENDED SWEDISH FAMILY | 2 | 4 |
| 919 | 9 | 21 | 705 1990 HUMAN GENETICS 85(6):590-594 YU WD; WENGER SL; STEELE MW X-CHROMOSOME IMPRINTING IN FRAGILE-X SYNDROME | 6 | 15 |
| 920 | 12 | 21 | 786 1991 AMERICAN JOURNAL OF MEDICAL GENETICS 38(2-3):283-287 HAGERMAN RJ; AMIRI K; CRONISTER A FRAGILE-X CHECKLIST | 45 | 60 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 921 | 3 | 21 | 820 1991 AMERICAN JOURNAL OF MEDICAL GENETICS 38(2-3):493-497 SUDHALTER V; SCARBOROUGH HS; COHEN IL SYNTACTIC DELAY AND PRAGMATIC DEVIANCE IN THE LANGUAGE OF FRAGILE-X MALES | 21 | 29 |
| 922 | 11 | 21 | 922 1992 AMERICAN JOURNAL OF MEDICAL GENETICS 43(1-2):142-148 FISCH GS; FRYNS JP FACTORS WHICH CONTRIBUTE TO CYTOGENETIC FREQUENCY OF EXPRESSION IN FAMILIES OF FRAGILE-X FEMALES | 1 | 1 |
| 923 | 13 | 21 | 934 1992 AMERICAN JOURNAL OF MEDICAL GENETICS 43(1-2):217-223 KNIGHT SJL; HIRST MC; ROCHE A; CHRISTODOULOU Z; HUSON SM; WINTER R; FITCHETT M; MCKINLEY MJ; LINDENBAUM RH; NAKAHORI Y; DAVIES KE MOLECULAR STUDIES OF THE FRAGILE-X SYNDROME | 10 | 19 |
| 924 | 15 | 21 | 943 1992 AMERICAN JOURNAL OF MEDICAL GENETICS 43(1-2):320-327 VANOOST BA; SMITS APT; DREESEN JCFM; VANDENOUWELAND AMW; OOSTRA BA VALIDATION OF LINKAGE-BASED DNA-DIAGNOSIS OF FRAGILE-X GENE CARRIERS WITH THE CGG REPEAT PROBE | 2 | 4 |
| 925 | 18 | 21 | 956 1992 AMERICAN JOURNAL OF MEDICAL GENETICS 44(6):830-833 MALMGREN H; GUSTAVSON KH; WAHLSTROM J; ARPIHENRIKSSON I; BENSCH J; PETTERSSON U; DAHL N INFANTILE-AUTISM FRAGILE-X - MOLECULAR FINDINGS SUPPORT GENETIC-HETEROGENEITY | 3 | 6 |
| 926 | 18 | 21 | 1131 1993 MENTAL RETARDATION 31(5):279-283 SMITH SE COGNITIVE DEFICITS ASSOCIATED WITH FRAGILE-X SYNDROME | 2 | 3 |
| 927 | 15 | 21 | 1181 1994 AMERICAN JOURNAL OF MEDICAL GENETICS 51(4):466-470 HOFSTEE Y; ARINAMI T; HAMAGUCHI H COMPARISON BETWEEN THE CYTOGENETIC TEST FOR FRAGILE-X AND THE MOLECULAR ANALYSIS OF THE FMR-1 GENE IN JAPANESE MENTALLY-RETARDED INDIVIDUALS | 12 | 18 |
| 928 | 16 | 21 | 1184 1994 AMERICAN JOURNAL OF MEDICAL GENETICS 51(4):482-485 VANDENOUWELAND AMW; DEVRIES BBA; BAKKER PLG; DEELEN WH; DEGRAAFF E; VANHEMEL JO; OOSTRA BA; NIERMEIJER MF; HALLEY DJJ DNA 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 | 26 | 34 |
| 929 | 12 | 21 | 1192 1994 AMERICAN JOURNAL OF MEDICAL GENETICS 51(4):527-534 LEVINSON G; MADDALENA A; PALMER FT; HARTON GL; BICK DP; HOWARDPEEBLES PN; BLACK SH; SCHULMAN JD IMPROVED SIZING OF FRAGILE-X CCG REPEATS BY NESTED POLYMERASE CHAIN-REACTION | 15 | 28 |
| 930 | 16 | 21 | 1255 1994 PRENATAL DIAGNOSIS 14(6):469-474 STRAIN L; PORTEOUS MEM; GOSDEN CM; ELLIS PM; NEILSON JP; BONTHRON DT PRENATAL-DIAGNOSIS OF FRAGILE-X-SYNDROME - MANAGEMENT OF THE MALE FETUS WITH A PREMUTATION | 3 | 4 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 931 | 11 | 21 | 1290 1995 AMERICAN JOURNAL OF HUMAN GENETICS 57(5):991-993 SHERMAN SL THE HIGH PREVALENCE OF FRAGILE-X PREMUTATION CARRIER FEMALES - IS THIS FREQUENCY UNIQUE TO THE FRENCH-CANADIAN POPULATION | 7 | 14 |
| 932 | 14 | 21 | 1297 1995 AMERICAN JOURNAL OF MEDICAL GENETICS 59(4):426-430 MCCONKIEROSELL A; ROBINSON H; WAKE S; STALEY LW; HELLER K; CRONISTER A DISSEMINATION OF GENETIC RISK INFORMATION TO RELATIVES IN THE FRAGILE-X SYNDROME - GUIDELINES FOR GENETIC COUNSELORS | 6 | 7 |
| 933 | 11 | 21 | 1334 1995 DEVELOPMENTAL BRAIN DYSFUNCTION 8(4-6):319-326 Wake SA; Robinson H Assessment of counselling of normal males and normal transmitting male carriers identified in fragile X families | 0 | 0 |
| 934 | 9 | 21 | 1391 1995 PSYCHIATRIC GENETICS 5(4):157-160 Jonsson E; Bjorck E; Wahlstrom J; Gustavsson P; Sedvall G Screening for CGG trinucleotide repeat expansion in the fragile X mental retardation 1 gene in schizophrenic patients | 0 | 1 |
| 935 | 4 | 21 | 1396 1996 AMERICAN JOURNAL OF HUMAN GENETICS 58(5):906-913 Knight SJL; Ritchie RJ; Chakrabarti L; Cross G; Taylor GR; Mueller RF; Hurst J; Paterson J; Yates JRW; Dow DJ; Davies KE A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom | 11 | 41 |
| 936 | 4 | 21 | 1407 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(1):27-30 Carrel L; Willard HF An assay for X inactivation based on differential methylation at the fragile X locus, FMR1 | 1 | 30 |
| 937 | 17 | 21 | 1420 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(2):256-260 Sherman SL; Meadows KL; Ashley AE Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females | 12 | 16 |
| 938 | 5 | 21 | 1422 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(2):266-267 Wohrle D; Schwemmle S; Steinbach P DNA methylation and triplet repeat stability: New proposals addressing actual questions on the CGG repeat of fragile X syndrome | 9 | 18 |
| 939 | 12 | 21 | 1424 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(2):278-282 Lachiewicz AM; Spiridigliozzi GA; McConkieRosell A; Burgess D; Feng Y; Warren ST; Tarleton J A fragile X male with a broad smear on Southern blot analysis representing 100-500 CGG repeats and no methylation at the EagI site of the FMR-1 gene | 9 | 11 |
| 940 | 18 | 21 | 1429 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(2):309-312 Maddalena A; Yadvish KN; Spence WC; HowardPeebles PN A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood | 12 | 15 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 941 | 16 | 21 | 1438 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(2):365-369 Cohen IL; Nolin SL; Sudhalter V; Ding XH; Dobkin CS; Brown WT Mosaicism for the FMR1 gene influences adaptive skills development in fragile X-affected males | 14 | 15 |
| 942 | 11 | 21 | 1468 1996 CLINICAL OBSTETRICS AND GYNECOLOGY 39(4):772-782 Finucane B Should all pregnant women be offered carrier testing for fragile X syndrome? | 1 | 1 |
| 943 | 15 | 21 | 1492 1996 JOURNAL OF MEDICAL GENETICS 33(5):376-378 Wang ZM; Taylor AK; Bridge JA FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male | 17 | 22 |
| 944 | 13 | 21 | 1786 1999 GENETIC TESTING 3(3):301-304 Melis MA; Addis M; Lepiani C; Congeddu E; Cossu P; Cao A A strategy for fragile-X carrier screening | 0 | 2 |
| 945 | 10 | 21 | 1805 1999 JOURNAL OF MEDICAL GENETICS 36(2):167-170 de Vries BBA; van den Boer-van den Berg HMA; Niermeijer MF; Tibben A Dilemmas in Counselling females with the fragile X syndrome | 0 | 1 |
| 946 | 9 | 21 | 1884 2000 EUROPEAN JOURNAL OF HUMAN GENETICS 8(4):247-252 Murray A; Ennis S; MacSwiney F; Webb J; Morton NE Reproductive and menstrual history of females with fragile X expansions | 10 | 13 |
| 947 | 3 | 21 | 2016 2001 ELECTROPHORESIS 22(6):1188-1193 Sung WC; Lee GB; Tzeng CC; Chen SH Plastic microchip electrophoresis for genetic screening: The analysis of polymerase chain reactions products of fragile X (CGG)n alleles | 0 | 10 |
| 948 | 6 | 21 | 2112 2002 CELLULAR & MOLECULAR BIOLOGY LETTERS 7(3):877-883 Denman RB Methylation of the arginine-glycine-rich region in the fragile X mental retardation protein FMRP differentially affects RNA binding | 2 | 4 |
| 949 | 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 |
| 950 | 1 | 20 | 48 1982 AMERICAN JOURNAL OF MEDICAL GENETICS 13(2):139-148 BROOKWELL R; DANIEL A; TURNER G; FISHBURN J THE FRAGILE X(Q27) FORM OF X-LINKED MENTAL-RETARDATION - FUDR AS AN INDUCING AGENT FOR FRA(X)(Q27) EXPRESSION IN LYMPHOCYTES, FIBROBLASTS, AND AMNIOCYTES | 23 | 49 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 951 | 7 | 20 | 142 1983 JOURNAL OF DEVELOPMENTAL AND BEHAVIORAL PEDIATRICS 4(3):151-158 LEVITAS A; HAGERMAN RJ; BRADEN M; RIMLAND B; MCBOGG P; MATUS I AUTISM AND THE FRAGILE-X SYNDROME | 48 | 62 |
| 952 | 3 | 20 | 180 1984 AMERICAN JOURNAL OF MEDICAL GENETICS 17(1):259-273 HOLDEN JJA; WANG HS; WHITE BN THE FRAGILE-X SYNDROME .4. PROGRESS TOWARDS THE IDENTIFICATION OF LINKED RESTRICTION FRAGMENT LENGTH VARIANTS (RFLVS) | 4 | 13 |
| 953 | 7 | 20 | 417 1987 AMERICAN JOURNAL OF MEDICAL GENETICS 27(2):435-448 MULLEY JC; GEDEON AK; THORN KA; BATES LJ; SUTHERLAND GR LINKAGE AND GENETIC-COUNSELING FOR THE FRAGILE-X USING DNA PROBE-52A, PROBE-F9, PROBE-DX13, AND PROBE-ST14 | 17 | 43 |
| 954 | 10 | 20 | 420 1987 AMERICAN JOURNAL OF MENTAL DEFICIENCY 91(5):445-449 ROGERS RC; SIMENSEN RJ FRAGILE-X SYNDROME - A COMMON ETIOLOGY OF MENTAL-RETARDATION | 13 | 19 |
| 955 | 7 | 20 | 458 1987 HUMAN GENETICS 77(1):85-87 KAHKONEN M; ALITALO T; AIRAKSINEN E; MATILAINEN R; LAUNIALA K; AUTIO S; LEISTI J PREVALENCE OF THE FRAGILE-X SYNDROME IN 4 BIRTH COHORTS OF CHILDREN OF SCHOOL AGE | 31 | 45 |
| 956 | 8 | 20 | 511 1988 AMERICAN JOURNAL OF MEDICAL GENETICS 30(1-2):83-98 WALDSTEIN G; HAGERMAN R AORTIC HYPOPLASIA AND CARDIAC VALVULAR ABNORMALITIES IN A BOY WITH FRAGILE-X SYNDROME | 5 | 5 |
| 957 | 10 | 20 | 595 1988 JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS 18(3):343-354 BREGMAN JD; LECKMAN JF; ORT SI FRAGILE X-SYNDROME - GENETIC PREDISPOSITION TO PSYCHOPATHOLOGY | 42 | 70 |
| 958 | 12 | 20 | 676 1990 AMERICAN JOURNAL OF HUMAN GENETICS 47(6):988-993 OHASHI H; KUWANO A; TSUKAHARA M; ARINAMI T; KAJII T REPLICATION PATTERNS OF THE FRAGILE-X IN HETEROZYGOUS CARRIERS - ANALYSIS BY A BRDURD ANTIBODY METHOD | 1 | 2 |
| 959 | 7 | 20 | 791 1991 AMERICAN JOURNAL OF MEDICAL GENETICS 38(2-3):311-318 CARPENTER NJ DNA LINKAGE ANALYSIS OF 26 FAMILIES WITH FRAGILE-X SYNDROME | 1 | 1 |
| 960 | 3 | 20 | 795 1991 AMERICAN JOURNAL OF MEDICAL GENETICS 38(2-3):343-346 BROWN WT; GROSS AC; GOONEWARDENA P; FERRANDO C; DOBKIN C; JENKINS EC LINKAGE IN FRAGILE-X FAMILIES OF 3 DISTAL FLANKING MARKERS - ST14, DX13, AND F8 | 1 | 2 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 961 | 16 | 20 | 797 1991 AMERICAN JOURNAL OF MEDICAL GENETICS 38(2-3):349-353 CARPENTER NJ; THIBODEAU SN; BROWN WT LINKAGE RELATIONSHIPS BETWEEN DXS105, DXS98, AND OTHER POLYMORPHIC DNA MARKERS FLANKING THE FRAGILE-X LOCUS | 2 | 3 |
| 962 | 6 | 20 | 812 1991 AMERICAN JOURNAL OF MEDICAL GENETICS 38(2-3):429-433 KIMCHISARFATY C; GOITEIN R; KEREM B; WERNER M; MEIDAN B; SCHAAP T ENDOREDUPLICATION AND POLYPLOIDY IN FRAGILE-X CELLS INDUCED BY METHOTREXATE AND FLUORODEOXYURIDINE - IMPLICATIONS FOR DIAGNOSIS | 1 | 3 |
| 963 | 6 | 20 | 819 1991 AMERICAN JOURNAL OF MEDICAL GENETICS 38(2-3):488-492 DEVONFLINDT R; BYBEL B; CHUDLEY AE; LOPES F SHORT-TERM-MEMORY AND COGNITIVE VARIABILITY IN ADULT FRAGILE-X FEMALES | 6 | 8 |
| 964 | 11 | 20 | 873 1991 JOURNAL OF MEDICAL GENETICS 28(12):830-836 ROUSSEAU F; HEITZ D; OBERLE I; MANDEL JL 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 | 62 | 84 |
| 965 | 10 | 20 | 890 1991 NUCLEIC ACIDS RESEARCH 19(16):4355-4359 NAKAHORI Y; KNIGHT SJL; HOLLAND J; SCHWARTZ C; ROCHE A; TARLETON J; WONG S; FLINT TJ; FROSTERISKENIUS U; BENTLEY D; DAVIES KE; HIRST MC MOLECULAR HETEROGENEITY OF THE FRAGILE-X SYNDROME | 61 | 91 |
| 966 | 14 | 20 | 991 1992 JOURNAL OF MEDICAL GENETICS 29(6):368-374 MULLEY JC; YU S; GEDEON AK; DONNELLY A; TURNER G; LOESCH D; CHAPMAN CJ; GARDNER RJM; RICHARDS RI; SUTHERLAND GR EXPERIENCE WITH DIRECT MOLECULAR DIAGNOSIS OF FRAGILE-X | 26 | 38 |
| 967 | 8 | 20 | 1008 1992 NATURE GENETICS 1(4):257-260 RICHARDS RI; HOLMAN K; FRIEND K; KREMER E; HILLEN D; STAPLES A; BROWN WT; GOONEWARDENA P; TARLETON J; SCHWARTZ C; SUTHERLAND GR EVIDENCE OF FOUNDER CHROMOSOMES IN FRAGILE-X SYNDROME | 69 | 158 |
| 968 | 16 | 20 | 1082 1993 CLINICAL GENETICS 44(4):169-172 YAMAUCHI M; NAGATA S; SEKI N; TOYAMA Y; HARADA N; NIIKAWA N; MASUNO I; KAJII T; HORI T PRENATAL-DIAGNOSIS OF FRAGILE X-SYNDROME BY DIRECT-DETECTION OF THE DYNAMIC MUTATION DUE TO AN UNSTABLE DNA-SEQUENCE | 2 | 5 |
| 969 | 6 | 20 | 1096 1993 HUMAN GENETICS 92(5):431-436 ARINAMI T; ASANO M; KOBAYASHI K; YANAGI H; HAMAGUCHI H DATA ON THE CGG REPEAT AT THE FRAGILE X-SITE IN THE NONRETARDED JAPANESE POPULATION AND FAMILY SUGGEST THE PRESENCE OF A SUBGROUP OF NORMAL ALLELES PREDISPOSING TO MUTATE | 21 | 41 |
| 970 | 9 | 20 | 1232 1994 JOURNAL OF INTELLECTUAL DISABILITY RESEARCH 38:1-8 DEVRIES LBA; HALLEY DJJ; OOSTRA BA; NIERMEIJER MF THE FRAGILE-X SYNDROME - A GROWING GENE CAUSING FAMILIAL INTELLECTUAL DISABILITY | 1 | 2 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 971 | 10 | 20 | 1371 1995 JOURNAL OF MEDICAL GENETICS 32(3):170-173 WANG Q; GREEN E; BOBROW M; MATHEW CG A RAPID, NONRADIOACTIVE SCREENING-TEST FOR FRAGILE-X MUTATIONS AT THE FRAXA AND FRAXE LOCI | 15 | 27 |
| 972 | 14 | 20 | 1394 1996 AMERICAN JOURNAL OF HUMAN GENETICS 58(1):237-239 Antinolo G; Borrego S; Cabeza JC; Sanchez R; Sanchez J; Sanchez B Reverse mutation in fragile X syndrome | 7 | 11 |
| 973 | 13 | 20 | 1417 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(1):234-238 Syrrou M; Patsalis PC; Georgiou I; Hadjimarcou MI; ConstantinouDeltas CD; Pagoulatos G Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus | 5 | 15 |
| 974 | 10 | 20 | 1418 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(2):241-245 Kooy RF; DHooge R; Reyniers E; Bakker CE; Nagels G; DeBoulle K; Storm K; Clincke G; DeDeyn PP; Oostra BA; Willems PJ Transgenic mouse model for the fragile X syndrome | 22 | 41 |
| 975 | 16 | 20 | 1426 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(2):293-295 Mannermaa A; Pulkkinen L; Kajanoja E; Ryynanen M; Saarikoski S Deletion in the FMR1 gene in a fragile-X male | 8 | 9 |
| 976 | 12 | 20 | 1445 1996 AMERICAN JOURNAL OF MEDICAL GENETICS 64(2):413-414 Loesch DZ Fragile X: Clinical associations | 0 | 0 |
| 977 | 13 | 20 | 1493 1996 JOURNAL OF MEDICAL GENETICS 33(12):1007-1010 deVries BBA; Jansen CCAM; Duits AA; Verheij C; Willemsen R; vanHemel JO; vandenOuweland AMW; Niermeijer MF; Oostra BA; Halley DJJ Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family | 31 | 38 |
| 978 | 5 | 20 | 1517 1996 VARIATION IN THE HUMAN GENOME 197:126-136 Weiss KM; Sutherland GR; Harper PS; Bodmer W; Bowcock AM; Freimer NB; Kidd KK; Chakraborty R; Armour J; Donnelly P; Clark A; Chakravarti A; Weatherall DJ; Edwards JH; Balmain A; Zechner R Unusual inheritance patterns due to dynamic mutation in fragile X syndrome - Discussion | 0 | 0 |
| 979 | 17 | 20 | 1568 1997 ARCHIVES DE PEDIATRIE 4(3):227-236 Cossee M; Moutou C; Biancalana V; Bouix JC; Plessis G; Delobel B; Croquette MF; Gilgenkrantz S; Lambert JC; Malpuech G; Stoll C; Lanoe JL; Pechevis M; Mandel JL The fragile X syndrome is still underdiagnosed: Efficacy of molecular testing in mentally retarded probands | 2 | 2 |
| 980 | 7 | 20 | 1618 1997 MOLECULAR DIAGNOSIS 2(4):259-269 Hamdan H; Tynan JA; Fenwick RA; Leon JA Automated detection of trinucleotide repeats in fragile X syndrome | 4 | 6 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 981 | 5 | 20 | 1721 1999 AMERICAN JOURNAL OF MEDICAL GENETICS 82(3):206-211 McConkie-Rosell A; Spiridigliozzi GA; Rounds K; Dawson DV; Sullivan JA; Burgess D; Lachiewicz AM Parental attitudes regarding carrier testing in children at risk for fragile X syndrome | 2 | 7 |
| 982 | 11 | 20 | 1733 1999 AMERICAN JOURNAL OF MEDICAL GENETICS 83(4):308-312 Fisch GS; Carpenter N; Holden JJA; Howard-Peebles PN; Maddalena A; Borghgraef M; Steyaert J; Fryns JP Longitudinal changes in cognitive and adaptive behavior in fragile X females: A prospective multicenter analysis | 9 | 14 |
| 983 | 10 | 20 | 1750 1999 AMERICAN JOURNAL OF MEDICAL GENETICS 84(3):226-228 Glaser D; Wohrle D; Salat U; Vogel W; Steinbach P; Mucke J Mitotic behavior of expanded CGG repeats studied on cultured cells: Further evidence for methylation-mediated triplet repeat stability in fragile X syndrome | 4 | 7 |
| 984 | 10 | 20 | 1823 1999 ZEITSCHRIFT FUR KINDER-UND JUGENDPSYCHIATRIE UND PSYCHOTHERAPIE 27(3):175-181 Sarimski K Play and communicative behaviour in young boys with fragile-X syndrome. | 0 | 1 |
| 985 | 16 | 20 | 1890 2000 GENETIC TESTING 4(3):289-292 Geva E; Yaron Y; Shomrat R; Ben-Yehuda A; Zabari S; Peretz H; Naiman T; Yeger H; Orr-Urtreger A The risk of Fragile X premutation expansion is lower in carriers detected by general prenatal screening than in carriers from known Fragile X families | 3 | 4 |
| 986 | 12 | 20 | 1947 2000 MOLECULAR AND CELLULAR PROBES 14(2):115-119 Mila M; Castellvi-Bel S; Sanchez A; Barcelo A; Badenas C; Mallolas J; Estivill X Rare variants in the promoter of the fragile X syndrome gene (FMR1) | 3 | 4 |
| 987 | 8 | 20 | 2049 2001 NEUROREPORT 12(11):2573-2576 Rojas DC; Benkers TL; Rogers SJ; Teale PD; Reite ML; Hagerman RJ Auditory evoked magnetic fields in adults with fragile X syndrome | 2 | 3 |
| 988 | 11 | 20 | 2115 2002 CURRENT BIOLOGY 12(24):R852-R854 Carthew RW RNA interference: The fragile X syndrome connection | 0 | 3 |
| 989 | 15 | 20 | 2163 2002 MICROSCOPY RESEARCH AND TECHNIQUE 57(3):145-147 Feng Y Fragile X mental retardation: Misregulation of protein synthesis in the developing brain? | 1 | 2 |
| 990 | 9 | 20 | 2184 2002 NEURON 34(6):859-862 Gao FB Understanding fragile X syndrome: Insights from retarded flies | 3 | 6 |
| # | LCR | NCR | Nodes / Date / Journal / Authors | LCS | GCS |
| 991 | 0 | 19 | 13 1981 CLINICAL GENETICS 19(2):101-110 GUSTAVSON KH; HOLMGREN G; BLOMQUIST HK; MIKKELSEN M; NORDENSON I; POULSEN H; TOMMERUP N FAMILIAL X-LINKED MENTAL-RETARDATION AND FRAGILE X-CHROMOSOMES IN 2 SWEDISH FAMILIES | 28 | 42 |
| 992 | 5 | 19 | 163 1984 ACTA PSYCHIATRICA SCANDINAVICA 70(5):510-514 JORGENSEN OS; NIELSEN KB; ISAGER T; MOURIDSEN SE FRAGILE X-CHROMOSOME AMONG CHILD PSYCHIATRIC-PATIENTS WITH DISTURBANCES OF LANGUAGE AND SOCIAL RELATIONSHIPS - A PILOT-STUDY | 12 | 21 |
| 993 | 4 | 19 | 168 1984 AMERICAN JOURNAL OF HUMAN GENETICS 36(3):640-645 KNOLL JH; CHUDLEY AE; GERRARD JW FRAGILE (X) X-LINKED MENTAL-RETARDATION .2. FREQUENCY AND REPLICATION PATTERN OF FRAGILE (X) (Q28) IN HETEROZYGOTES | 20 | 31 |
| 994 | 7 | 19 | 249 1985 AMERICAN JOURNAL OF MEDICAL GENETICS 22(3):571-575 MITCHELL JA; WRAY J; MICHALSKI K NEUROFIBROMATOSIS AND FRAGILE-X SYNDROME IN THE SAME PATIENT | 2 | 3 |
| 995 | 3 | 19 | 254 1985 AMERICAN JOURNAL OF PUBLIC HEALTH 75(7):771-772 TRUSLER S; BEATTYDESANA J FRAGILE X-SYNDROME - A PUBLIC-HEALTH CONCERN | 4 | 6 |
| 996 | 5 | 19 | 283 1985 HUMAN GENETICS 69(3):209-211 KRAWCZUN MS; JENKINS EC; BROWN WT ANALYSIS OF THE FRAGILE-X CHROMOSOME - LOCALIZATION AND DETECTION OF THE FRAGILE SITE IN HIGH-RESOLUTION PREPARATIONS | 19 | 33 |
| 997 | 6 | 19 | 401 1986 MUTATION RESEARCH 173(3):201-205 DUNCAN AMV ENHANCED SENSITIVITY OF LYMPHOBLASTOID-CELLS FROM INDIVIDUALS CARRYING THE MUTATION FOR THE FRAGILE X-SYNDROME TO THE CLASTOGENIC EFFECTS OF FUDR | 2 | 3 |
| 998 | 8 | 19 | 414 1987 AMERICAN JOURNAL OF MEDICAL GENETICS 26(4):909-914 WENGER SL; HENNESSEY JC; STEELE MW INCREASED SISTER CHROMATID EXCHANGE FREQUENCY AT XQ27-SITE IN AFFECTED FRAGILE-X MALES | 5 | 23 |
| 999 | 2 | 19 | 568 1988 CHROMOSOMA 96(5):391-396 SAVAGE JRK; FITCHETT M THE BEHAVIOR OF FRAGILE-X AND OTHER ABERRATIONS DURING RECOVERY FROM LOW FOLATE CONDITIONS | 0 | 3 |
| 1000 | 5 | 19 | 617 1989 AMERICAN JOURNAL OF MEDICAL GENETICS 33(2):200-208 LOESCH DZ; WILSON SR MULTIVARIATE-ANALYSIS OF BODY SHAPE IN FRAGILE-X (MARTIN-BELL) SYNDROME | 2 | 5 |
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