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La ricerca find articoli where soggetti phrase all words 'DIRECT DIAGNOSIS' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 23 riferimenti
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    1. Kenneson, A; Zhang, FP; Hagedorn, CH; Warren, ST
      Reduced FMRP and increased FMR1 transcription is proportionally associatedwith CGG repeat number in intermediate-length and premutation carriers

      HUMAN MOLECULAR GENETICS
    2. Eliez, S; Feinstein, C
      The fragile X syndrome: bridging the gap from gene to behavior

      CURRENT OPINION IN PSYCHIATRY
    3. Bennetto, L; Pennington, BF; Porter, D; Taylor, AK; Hagerman, RJ
      Profile of cognitive functioning in women with the fragile X mutation

      NEUROPSYCHOLOGY
    4. Salat, U; Bardoni, B; Wohrle, D; Steinbach, P
      Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: aclue to the sex bias in the transmission of full mutations?

      JOURNAL OF MEDICAL GENETICS
    5. Pimentel, MMG
      Fragile X syndrome

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    6. Kaufmann, WE; Abrams, MT; Chen, WM; Reiss, AL
      Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    7. Abrams, MT; Kaufmann, WE; Rousseau, F; Oostra, BA; Wolozin, B; Taylor, CV; Lishaa, N; Morel, ML; Hoogeveen, A; Reiss, AL
      FMR1 gene expression in olfactory neuroblasts from two males with fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    8. SYRROU M; GEORGIOU I; GRIGORIADOU M; PETERSEN MB; KITSIOU S; PAGOULATOS G; PATSALIS PC
      FRAXA AND FRAXE PREVALENCE IN PATIENTS WITH NONSPECIFIC MENTAL-RETARDATION IN THE HELLENIC POPULATION

      Genetic epidemiology
    9. FEINSTEIN C; REISS AL
      AUTISM - THE POINT-OF-VIEW FROM FRAGILE-X STUDIES

      Journal of autism and developmental disorders
    10. HECIMOVIC S; BARISIC I; PAVELIC K
      DNA ANALYSIS OF THE FRAGILE-X-SYNDROME IN AN AT RISK PEDIATRIC POPULATION IN CROATIA - SIMPLE CLINICAL PRESELECTION CRITERIA CAN CONSIDERABLY IMPROVE THE COST-EFFECTIVENESS OF FRAGILE-X SCREENING STUDIES

      Human heredity
    11. CURRY CJ; STEVENSON RE; AUGHTON D; BYRNE J; CAREY JC; CASSIDY S; CUNNIFF C; GRAHAM JM; JONES MC; KABACK MM; MOESCHLER J; SCHAEFER GB; SCHWARTZ S; TARLETON J; OPITZ J
      EVALUATION OF MENTAL-RETARDATION - RECOMMENDATIONS OF A CONSENSUS CONFERENCE

      American journal of medical genetics
    12. GERARD B; LEHEUZEY MF; BRUNIE G; LEWINE P; SAIAG MC; CACHEUX V; DASILVA F; DUGAS M; MOURENSIMEONI MC; ELION J; GRANDCHAMP B
      SYSTEMATIC SCREENING FOR FRAGILE-X-SYNDROME IN A COHORT OF 574 MENTALLY-RETARDED CHILDREN

      Annales de genetique
    13. 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

      American journal of medical genetics
    14. GRASSO M; PERRONI L; DAGNABRICARELLI F; RINALDI A; ROBLEDO R; SINISCALCO M; FILIPPI G
      PREMUTATION FOR THE MARTIN-BELL SYNDROME ANALYZED IN A LARGE SARDINIAN FAMILY .3. MOLECULAR ANALYSIS WITH THE STB12.3 PROBE

      American journal of medical genetics
    15. DOBKIN CS; NOLIN SL; COHEN I; SUDHALTER V; BIALER MG; DING XH; JENKINS EC; ZHONG N; BROWN WT
      TISSUE DIFFERENCES IN FRAGILE-X MOSAICS - MOSAICISM IN BLOOD-CELLS MAY DIFFER GREATLY FROM SKIN

      American journal of medical genetics
    16. DEGRAAFF E; DEVRIES BBA; WILLEMSEN R; VANHEMEL JO; MOHKAMSING S; OOSTRA BA; VANDENOUWELAND AMW
      THE FRAGILE-X PHENOTYPE IN A MOSAIC MALE WITH A DELETION SHOWING EXPRESSION OF THE FMR1 PROTEIN IN 28-PERCENT OF THE CELLS

      American journal of medical genetics
    17. 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

      American journal of medical genetics
    18. SOBESKY WE; TAYLOR AK; PENNINGTON BF; BENNETTO L; PORTER D; RIDDLE J; HAGERMAN RJ
      MOLECULAR CLINICAL CORRELATIONS IN FEMALES WITH FRAGILE-X/

      American journal of medical genetics
    19. WRIGHTTALAMANTE C; CHEEMA A; RIDDLE JE; LUCKEY DW; TAYLOR AK; HAGERMAN RJ
      A CONTROLLED-STUDY OF LONGITUDINAL IQ CHANGES IN FEMALES AND MALES WITH FRAGILE-X SYNDROME

      American journal of medical genetics
    20. MERENSTEIN SA; SOBESKY WE; TAYLOR AK; RIDDLE JE; TRAN HX; HAGERMAN RJ
      MOLECULAR-CLINICAL CORRELATIONS IN MALES WITH AN EXPANDED FMR1 MUTATION

      American journal of medical genetics
    21. 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 3 MALES FROM ONE FRAGILE-X FAMILY

      Journal of Medical Genetics
    22. PUISSANT H; MALINGE MC; LARGETPIET A; MARTIN D; CHAUVEAU P; ODENT S; PLESSIS G; PARENT P; LEMAREC B; LARGETPIET L
      MOLECULAR ANALYSIS OF 53 FRAGILE-X FAMILIES WITH THE PROBE-STB12.3

      American journal of medical genetics
    23. GREEN PM; MITCHELL VE; MCGRAW A; GOLDMAN E; GIANNELLI F
      HEMOPHILIA-B CAUSED BY A MISSENSE MUTATION IN THE PREPEPTIDE SEQUENCEOF FACTOR-IX

      Human mutation


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/02/20 alle ore 08:05:42