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La ricerca find articoli where soggetti phrase all words 'CPG-BINDING PROTEIN-2' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 28 riferimenti
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    1. Chelly, J; Mandel, JL
      Monogenic causes of X-linked mental retardation

      NATURE REVIEWS GENETICS
    2. Shahbazian, MD; Zoghbi, HY
      Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations

      CURRENT OPINION IN NEUROLOGY
    3. Carter, AR; Segal, RA
      Rett syndrome model suggests MECP2 gives neurons the quiet they need to think

      NATURE NEUROSCIENCE
    4. Hagerman, RJ; Hagerman, PJ
      Fragile X syndrome: A model of gene-brain-behavior relationships

      MOLECULAR GENETICS AND METABOLISM
    5. Urnov, FD; Wolffe, AP
      Above and within the genome: Epigenetics past and present

      JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA
    6. Nicolao, P; Carella, M; Giometto, B; Tavolato, B; Cattin, R; Giovannucci-Uzielli, ML; Vacca, M; Della Regione, F; Piva, S; Bortoluzzi, S; Gasparini, P
      DHPLC analysis of the MECP2 gene in Italian Rett patients

      HUMAN MUTATION
    7. Laccone, F; Huppke, P; Hanefeld, F; Meins, M
      Mutation spectrum in patients with Rett syndrome in the German population:Evidence of hot spot regions

      HUMAN MUTATION
    8. Rosenberg, C; Wouters, CH; Szuhai, K; Dorland, R; Pearson, P; Poll-The, BT; Colombijn, RM; Bruning, M; Lindhout, D
      A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease

      EUROPEAN JOURNAL OF HUMAN GENETICS
    9. Girard, M; Couvert, P; Carrie, A; Tardieu, M; Chelly, J; Beldjord, C; Bienvenu, T
      Parental origin of de novo MECP2 mutations in Rett syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    10. Akbarian, S; Chen, RZ; Gribnau, J; Rasmussen, TP; Fong, HF; Jaenisch, R; Jones, EG
      Expression pattern of the Rett syndrome gene MeCP2 in primate prefrontal cortex

      NEUROBIOLOGY OF DISEASE
    11. Colantuoni, C; Jeon, OH; Hyder, K; Chenchik, A; Khimani, AH; Narayanan, V; Hoffman, EP; Kaufmann, WE; Naidu, S; Pevsner, J
      Gene expression profiling in postmortem Rett syndrome brain: Differential gene expression and patient classification

      NEUROBIOLOGY OF DISEASE
    12. Couvert, P; Bienvenu, T; Aquaviva, C; Poirier, K; Moraine, C; Gendrot, C; Verloes, A; Andres, C; Le Fevre, AC; Souville, I; Steffann, J; des Portes, V; Ropers, HH; Yntema, HG; Fryns, JP; Briault, S; Chelly, J; Cherif, B
      MECP2 is highly mutated in X-linked mental retardation

      HUMAN MOLECULAR GENETICS
    13. Wan, MM; Zhao, KJ; Lee, SSJ; Francke, U
      MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome

      HUMAN MOLECULAR GENETICS
    14. Ellaway, CJ; Badawi, N; Raffaele, L; Christodoulou, J; Leonard, H
      A case of multiple congenital anomalies in association with Rett syndrome confirmed by MECP2 mutation screening

      CLINICAL DYSMORPHOLOGY
    15. Kerr, AM
      Recent developments in Rett syndrome research

      CURRENT OPINION IN PSYCHIATRY
    16. Inui, K; Akagi, M; Ono, J; Tsukamoto, H; Shimono, K; Mano, T; Imai, K; Yamada, M; Muramatsu, T; Sakai, N; Okada, S
      Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome

      BRAIN & DEVELOPMENT
    17. Bourdon, V; Philippe, C; Labrune, O; Amsallem, D; Arnould, C; Jonveaux, P
      A detailed analysis of the MECP2 gene: prevalence of recurrent mutations and gross DNA rearrangements in Rett syndrome patients

      HUMAN GENETICS
    18. Lorincz, MC; Schubeler, D; Groudine, M
      Methylation-mediated proviral silencing is associated with MeCP2 recruitment and localized histone H3 deacetylation

      MOLECULAR AND CELLULAR BIOLOGY
    19. Xiang, F; Stenbom, Y; Anvret, M; Hagberg, B
      Closely related Swedish Rett syndrome females - None with MECP2 mutation revealed

      NEUROPEDIATRICS
    20. Villard, L; Levy, N; Xiang, FQ; Kpebe, A; Labelle, V; Chevillard, C; Zhang, ZP; Schwartz, CE; Tardieu, M; Chelly, J; Anvret, M; Fontes, M
      Segregation of a totally skewed pattern of X chromosome inactivation in four familial cases of Rett syndrome without MECP2 mutation: implications forthe disease

      JOURNAL OF MEDICAL GENETICS
    21. Webb, T; Latif, F
      Rett syndrome and the MECP2 gene

      JOURNAL OF MEDICAL GENETICS
    22. Lebo, RV; Ikuta, T; Milunsky, JM; Milunsky, A
      Rett syndrome from quintuple and triple deletions within the MECP2 deletion hotspot region

      CLINICAL GENETICS
    23. Kaufmann, WE; Moser, HW
      Dendritic anomalies in disorders associated with mental retardation

      CEREBRAL CORTEX
    24. Huppke, P; Laccone, F; Kramer, N; Engel, W; Hanefeld, F
      Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients

      HUMAN MOLECULAR GENETICS
    25. Cheadle, JP; Gill, H; Fleming, N; Maynard, J; Kerr, A; Leonard, H; Krawczak, M; Cooper, DN; Lynch, S; Thomas, N; Hughes, H; Hulten, M; Ravine, D; Sampson, JR; Clarke, A
      Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location

      HUMAN MOLECULAR GENETICS
    26. Brunner, E; Weitzel, J; Heitmann, B; Maurer, T; Stratling, WH; Kalbitzer, HR
      Letter to the Editor: Sequence-specific H-1, C-13, and N-15 assignments ofthe MAR-binding domain of chicken MeCP2/ARBP

      JOURNAL OF BIOMOLECULAR NMR
    27. Yusufzai, TM; Wolffe, AP
      Functional consequences of Rett syndrome mutations on human MeCP2

      NUCLEIC ACIDS RESEARCH
    28. Amir, RE; Zoghbi, HY
      Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

      AMERICAN JOURNAL OF MEDICAL GENETICS


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/06/20 alle ore 16:49:55