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La ricerca find articoli where soggetti phrase all words 'RETT-SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 225 riferimenti
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    1. Van den Veyver, IB
      Skewed X inactivation in X-linked disorders

      SEMINARS IN REPRODUCTIVE MEDICINE
    2. Chelly, J; Mandel, JL
      Monogenic causes of X-linked mental retardation

      NATURE REVIEWS GENETICS
    3. Uehara, S; Sato, K; Hashiyada, M; Obara, Y; Matsuzaki, S; Nata, M; Okamura, K
      X chromosome inactivation patterns in 45,X/46,XX mosaics

      JOURNAL OF HUMAN GENETICS
    4. Mochida, GH; Walsh, CA
      Molecular genetics of human microcephaly

      CURRENT OPINION IN NEUROLOGY
    5. Hagerman, RJ; Hagerman, PJ
      Fragile X syndrome: A model of gene-brain-behavior relationships

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

      JOURNAL OF MAMMARY GLAND BIOLOGY AND NEOPLASIA
    7. 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
    8. 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
    9. Gartler, SM; Goldman, MA
      Biology of the X chromosome

      CURRENT OPINION IN PEDIATRICS
    10. Erlandson, A; Hallberg, B; Hagberg, B; Wahlstrom, J; Martinsson, T
      MECP2 mutation screening in Swedish classical Rett syndrome females

      EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
    11. Vourc'h, P; Bienvenu, T; Beldjord, C; Chelly, J; Barthelemy, C; Muh, JP; Andres, C
      No mutations in the coding region of the Rett syndrome gene MECP2 in 59 autistic patients

      EUROPEAN JOURNAL OF HUMAN GENETICS
    12. 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
    13. Nielsen, JB; Henriksen, KF; Hansen, C; Silahtaroglu, A; Schwartz, M; Tommerup, N
      MECP2 mutations in Danish patients with Rett syndrome: High frequency of mutations but no consistent correlations with clinical severity or with the X chromosome inactivation pattern

      EUROPEAN JOURNAL OF HUMAN GENETICS
    14. 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
    15. 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
    16. Hendrich, B; Bickmore, W
      Human diseases with underlying defects in chromatin structure and modification

      HUMAN MOLECULAR GENETICS
    17. 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
    18. Vancassel, S; Durand, G; Barthelemy, C; Lejeune, B; Martineau, J; Guilloteau, D; Andres, C; Chalon, S
      Plasma fatty acid levels in autistic children

      PROSTAGLANDINS LEUKOTRIENES AND ESSENTIAL FATTY ACIDS
    19. Wade, PA
      Methyl CpG binding proteins: coupling chromatin architecture to gene regulation

      ONCOGENE
    20. Vacca, M; Filippini, F; Budillon, A; Rossi, V; Mercadante, G; Manzati, E; Gualandi, F; Bigoni, S; Trabanelli, C; Pini, G; Calzolari, E; Ferlini, A; Meloni, I; Hayek, G; Zappella, M; Renieri, A; D'Urso, M; D'Esposito, M; MacDonald, F; Kerr, A; Dhanjal, S; Hulten, M
      Mutation analysis of the MECP2 gene in British and Italian Rett syndrome females

      JOURNAL OF MOLECULAR MEDICINE-JMM
    21. Tucker, KL
      Methylated cytosine and the brain: A new base for neuroscience

      NEURON
    22. Moldavsky, M; Lev, D; Lerman-Sagie, T
      Behavioral phenotypes of genetic syndromes: A reference guide for psychiatrists

      JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
    23. Fombonne, E; Simmons, H; Ford, T; Meltzer, H; Goodman, R
      Prevalence of pervasive developmental disorders in the British nationwide survey of child mental health

      JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
    24. King, BH; Wright, DM; Handen, BL; Sikich, I; Zimmerman, AW; McMahon, W; Cantwell, E; Davanzo, PA; Dourish, CT; Dykens, EM; Hooper, SR; Jaselskis, CA; Leventhal, BL; Levitt, J; Lord, C; Lubetsky, MJ; Myers, SM; Ozonoff, S; Shah, BG; Snape, M; Shernoff, EW; Williamson, K; Cook, EH
      Double-blind, placebo-controlled study of amantadine hydrochloride in the treatment of children with autistic disorder

      JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
    25. Steffenburg, U; Hagberg, G; Hagberg, B
      Epilepsy in a representative series of Rett syndrome

      ACTA PAEDIATRICA
    26. Gilgenkrantz, S; Bourdon, V
      MECP2 and mental retardation

      M S-MEDECINE SCIENCES
    27. Kerr, AM; Nomura, Y; Armstrong, D; Anvret, M; Belichenko, PV; Budden, S; Cass, H; Christodoulou, J; Clarke, A; Ellaway, C; d'Esposito, M; Francke, U; Hulten, M; Julu, P; Leonard, H; Naidu, S; Schanen, C; Webb, T; Engerstrom, IW; Yamashita, Y; Segawa, M
      Guidelines for reporting clinical features in cases with MECP2 mutations

      BRAIN & DEVELOPMENT
    28. 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
    29. Kumandas, S; Casken, H; Ciftci, A; Ozturk, M; Per, H
      Lamotrigine in two cases of Rett syndrome

      BRAIN & DEVELOPMENT
    30. Fyfe, S; Leonard, H; Gelmi, R; Tassell, A; Strack, R
      Using the Internet to pilot a questionnaire on childhood disability in Rett syndrome

      CHILD CARE HEALTH AND DEVELOPMENT
    31. Yu, F; Zingler, N; Schumann, G; Stratling, WH
      Methyl-CpG-binding protein 2 represses LINE-1 expression and retrotransposition but not Alu transcription

      NUCLEIC ACIDS RESEARCH
    32. Fan, GP; Beard, C; Chen, RZ; Csankovszki, G; Sun, Y; Siniaia, M; Biniszkiewicz, D; Bates, B; Lee, PP; Kuhn, R; Trumpp, A; Poon, CS; Wilson, CB; Jaenisch, R
      DNA hypomethylation perturbs the function and survival of CNS neurons in postnatal animals

      JOURNAL OF NEUROSCIENCE
    33. Shastry, BS
      Molecular genetics of Rett syndrome

      NEUROCHEMISTRY INTERNATIONAL
    34. Weidenheim, KM
      Neurobiology of autism: An update

      SALUD MENTAL
    35. Xiang, F; Stenbom, Y; Anvret, M; Hagberg, B
      Closely related Swedish Rett syndrome females - None with MECP2 mutation revealed

      NEUROPEDIATRICS
    36. Schwartzman, JS; Bernardino, A; Nishimura, A; Gomes, RR; Zatz, M
      Rett syndrome in a boy with a 47,XXY karyotype confirmed by a rare mutation in the MECP2 gene

      NEUROPEDIATRICS
    37. Magnusson, P; Saemundsen, E
      Prevalence of autism in Iceland

      JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
    38. Williams, CA; Lossie, A; Driscoll, D
      Angelman syndrome: Mimicking conditions and phenotypes

      AMERICAN JOURNAL OF MEDICAL GENETICS
    39. Ohki, I; Shimotake, N; Fujita, N; Jee, JG; Ikegami, T; Nakao, M; Shirakawa, M
      Solution structure of the methyl-CpG binding domain of human MBD1 in complex with methylated DNA

      CELL
    40. Lazzaro, MA; Picketts, DJ
      Cloning and characterization of the murine Imitation Switch (ISWI) genes: differential expression patterns suggest distinct developmental roles for Snf2h and Snf21

      JOURNAL OF NEUROCHEMISTRY
    41. 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
    42. Watson, P; Black, G; Ramsden, S; Barrow, M; Super, M; Kerr, B; Clayton-Smith, J
      Angelman syndrome phenotype associated with mutations in MECP2, a gene encoding a methyl CpG binding protein

      JOURNAL OF MEDICAL GENETICS
    43. Imessaoudene, B; Bonnefont, JP; Royer, G; Cormier-Daire, V; Lyonnet, S; Lyon, G; Munnich, A; Amiel, J
      MECP2 mutation in non-fatal, non-progressive encephalopathy in a male

      JOURNAL OF MEDICAL GENETICS
    44. Niedermeyer, E
      Frontal lobe disinhibition, Rett syndrome and attention deficit hyperactivity disorder

      CLINICAL ELECTROENCEPHALOGRAPHY
    45. Pearce, CB; Martin, H; Duncan, HD; Goggin, PM; Poller, DN
      Colonic lymphoid hyperplasia in melanosis coli

      ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
    46. Hisama, FM; Lee, HH; Vashlishan, A; Tehumalla, P; Russell, DS; Auld, E; Goldstein, JM
      Clinical and molecular studies in a family with probable X-linked dominantCharcot-Marie-Tooth disease involving the central nervous system

      ARCHIVES OF NEUROLOGY
    47. Amano, K; Nomura, Y; Segawa, M; Yamakawa, K
      Mutational analysis of the MECP2 gene in Japanese patients with Rett syndrome

      JOURNAL OF HUMAN GENETICS
    48. Bauer, J; Neumann, M; Kolmel, HW; Elger, CE
      Ictal generalized rhythmic alpha activity during non-convulsive status epilepticus

      EUROPEAN JOURNAL OF NEUROLOGY
    49. Hoban, TF
      Sleeplessness in children with neurodevelopmental disorders - Epidemiologyand management

      CNS DRUGS
    50. Sigafoos, J; Woodyatt, G; Tucker, M; Roberts-Pennell, D; Pittendreigh, N
      Assessment of potential communicative acts in three individuals with Rett syndrome

      JOURNAL OF DEVELOPMENTAL AND PHYSICAL DISABILITIES
    51. Kaufmann, WE; Moser, HW
      Dendritic anomalies in disorders associated with mental retardation

      CEREBRAL CORTEX
    52. Leonard, H; Fyfe, S; Dye, D; Hockey, A; Christodoulou, J
      Family data in Rett syndrome: Association with other genetic disorders

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    53. Demeter, K
      Assessing the developmental level in Rett syndrome: an alternative approach?

      EUROPEAN CHILD & ADOLESCENT PSYCHIATRY
    54. De Bona, C; Zappella, M; Hayek, G; Meloni, I; Vitelli, F; Bruttini, M; Cusano, R; Loffredo, P; Longo, I; Renieri, A
      Preserved speech variant is allelic of classic Rett syndrome

      EUROPEAN JOURNAL OF HUMAN GENETICS
    55. Clark, AF
      Neuropsychiatry of children and adolescents including psychoses, obsessive-compulsive disorder and physical illness

      CURRENT OPINION IN PSYCHIATRY
    56. Kohrman, MH; Carney, PR
      Sleep-related disorders in neurologic disease during childhood

      PEDIATRIC NEUROLOGY
    57. Hagberg, G; Stenbom, Y; Engerstrom, IW
      Head growth in Rett syndrome

      ACTA PAEDIATRICA
    58. Gordon, N
      The therapeutics of melatonin: a paediatric perspective

      BRAIN & DEVELOPMENT
    59. Tariverdian, G; Vogel, F
      Some problems in the genetics of X-linked mental retardation

      CYTOGENETICS AND CELL GENETICS
    60. Johnston, MV
      Commentary: Potential neurobiologic mechanisms through which metabolic disorders could relate to autism

      JOURNAL OF AUTISM AND DEVELOPMENTAL DISORDERS
    61. Amir, RE; Zoghbi, HY
      Rett syndrome: Methyl-CpG-binding protein 2 mutations and phenotype-genotype correlations

      AMERICAN JOURNAL OF MEDICAL GENETICS
    62. Amir, R; Dahle, EJR; Toriolo, D; Zoghbi, HY
      Candidate gene analysis in Rett syndrome and the identification of 21 SNPsin Xq

      AMERICAN JOURNAL OF MEDICAL GENETICS
    63. Clayton-Smith, J; Watson, P; Ramsden, S; Black, GCM
      Somatic mutation in MECP2 as a non-fatal neurodevelopmental disorder in males

      LANCET
    64. Horska, A; Naidu, S; Herskovits, EH; Wang, PY; Kaufmann, WE; Barker, PB
      Quantitative H-1 MR spectroscopic imaging in early Rett syndrome

      NEUROLOGY
    65. Lipani, JD; Bhattacharjee, MB; Corey, DM; Lee, DA
      Reduced nerve growth factor in Rett syndrome postmortem brain tissue

      JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
    66. Xiang, FQ; Buervenich, S; Nicolao, P; Bailey, MES; Zhang, ZP; Anvret, M
      Mutation screening in Rett syndrome patients

      JOURNAL OF MEDICAL GENETICS
    67. Pillion, JP; Rawool, VW; Naidu, S
      Auditory brainstem responses in Rett syndrome: Effects of hyperventilation, seizures, and tympanometric variables

      AUDIOLOGY
    68. Orrico, A; Lam, CW; Galli, L; Dotti, MT; Hayek, G; Tong, SF; Poon, PMK; Zappella, M; Federico, A; Sorrentino, V
      MECP2 mutation in male patients with non-specific X-linked mental retardation

      FEBS LETTERS
    69. Calamandrei, G; Alleva, E; Cirulli, F; Queyras, A; Volterra, V; Capirci, O; Vicari, S; Giannotti, A; Turrini, P; Aloe, L
      Serum NGF levels in children and adolescents with either Williams syndromeor Down syndrome

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    70. Eliez, S; Schmitt, JE; White, CD; Reiss, AL
      Children and adolescents with velocardiofacial syndrome: A volumetric MRI study

      AMERICAN JOURNAL OF PSYCHIATRY
    71. Kaufmann, WE
      Cytoskeletal determinants of dendritic development and function: Implications for mental retardation

      DEVELOPMENTAL NEUROPSYCHOLOGY
    72. Moser, HW
      Dendritic anomalies in disorders associated with mental retardation

      DEVELOPMENTAL NEUROPSYCHOLOGY
    73. Cardaioli, E; Dotti, MT; Hayek, G; Zappella, M; Federico, A
      Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835

      JOURNAL OF SUBMICROSCOPIC CYTOLOGY AND PATHOLOGY
    74. Ellaway, C; Christodoulou, J
      Rett syndrome: Clinical update and review of recent genetic advances

      JOURNAL OF PAEDIATRICS AND CHILD HEALTH
    75. Leontovich, TA; Mukhina, JK; Fedorov, AA; Belichenko, PV
      Morphological study of the entorhinal cortex, hippocampal formation, and basal ganglia in Rett syndrome patients

      NEUROBIOLOGY OF DISEASE
    76. Andres, C
      Genetics and neurobiology of development

      ARCHIVES DE PEDIATRIE
    77. Lancioni, GE; O'Reilly, MF; Basili, G
      Review of strategies for treating sleep problems in persons with severe orprofound mental retardation or multiple handicaps

      AMERICAN JOURNAL ON MENTAL RETARDATION

    78. Practice parameters for the assessment and treatment of children, adolescents, and adults with autism and other pervasive developmental disorders

      JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
    79. Buhler, EM; Malik, NJ; Alkan, M
      Rett syndrome and genetic drift

      BRAIN & DEVELOPMENT
    80. Miyamoto, A; Oki, J; Takahashi, S; Okuno, A
      Serum melatonin kinetics and long-term melatonin treatment for sleep disorders in Rett syndrome

      BRAIN & DEVELOPMENT
    81. Stradomska, TJ; Tylki-Szymanska, A; Bentkowski, Z
      Very long-chain fatty acids in Rett syndrome

      EUROPEAN JOURNAL OF PEDIATRICS
    82. Motil, KJ; Schultz, RJ; Browning, K; Trautwein, L; Glaze, DG
      Oropharyngeal dysfunction and gastroesophageal dysmotility are present in girls and women with Rett syndrome

      JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION
    83. Sonninen, P; Autti, T; Varho, T; Hamalainen, M; Raininko, R
      Brain involvement in Salla disease

      AMERICAN JOURNAL OF NEURORADIOLOGY
    84. Wenk, GL; Hauss-Wegrzyniak, B
      Altered cholinergic function in the basal forebrain of girls with Rett syndrome

      NEUROPEDIATRICS
    85. Guideri, F; Acampa, M; Hayek, C; Zappella, N; Di Perri, T
      Reduced heart rate variability in patients affected with Rett syndrome. A possible explanation for sudden death

      NEUROPEDIATRICS
    86. Sherren, N; Pappas, BA; Fortin, T
      Neural and behavioral effects of intracranial 192 IgG-saporin in neonatal rats: sexually dimorphic effects?

      DEVELOPMENTAL BRAIN RESEARCH
    87. Leonard, H; Thomson, M; Glasson, E; Fyfe, S; Leonard, S; Ellaway, C; Christodoulou, J; Bower, C
      Metacarpophalangeal pattern profile and bone age in Rett syndrome: Furtherradiological clues to the diagnosis

      AMERICAN JOURNAL OF MEDICAL GENETICS
    88. Gustavsson, P; Kimber, E; Wahlstrom, J; Anneren, G
      Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)

      AMERICAN JOURNAL OF MEDICAL GENETICS
    89. Leonard, H; Fyfe, S; Dye, D; Leonard, S
      Familial aggregation in Rett syndrome: What is the evidence for clusteringof other disorders in the families of affected girls?

      AMERICAN JOURNAL OF MEDICAL GENETICS
    90. Lauder, JM; Schambra, UB
      Morphogenetic roles of acetylcholine

      ENVIRONMENTAL HEALTH PERSPECTIVES
    91. Wahlstrom, J; Uller, A; Johannesson, T; Holmqvist, D; Darnfors, C; Vujic, M; Tonnby, B; Hagberg, B; Martinsson, T
      Congenital variant Rett syndrome in a girl with terminal deletion of chromosome 3p

      JOURNAL OF MEDICAL GENETICS
    92. Jan, JE; Freeman, RD; Fast, DK
      Melatonin treatment of sleep-wake cycle disorders in children and adolescents

      DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
    93. Ellaway, CJ; Sholler, G; Leonard, H; Christodoulou, J
      Prolonged QT interval in Rett syndrome

      ARCHIVES OF DISEASE IN CHILDHOOD
    94. Lanasa, MC; Hogge, WA; Hoffman, EP
      The X chromosome and recurrent spontaneous abortion: The significance of transmanifesting carriers

      AMERICAN JOURNAL OF HUMAN GENETICS
    95. NAVARRO JF; ESPERT R
      BIOLOGICAL BASIS OF RETT-SYNDROME

      Psicologia conductual
    96. NIEDERMEYER E; NAIDU SB
      RETT-SYNDROME, EEG AND THE MOTOR CORTEX AS A MODEL FOR BETTER UNDERSTANDING OF ATTENTION-DEFICIT HYPERACTIVITY DISORDER (ADHD)

      European child & adolescent psychiatry
    97. STENBOM Y; TONNBY B; HAGBERG B
      LAMOTRIGINE IN RETT-SYNDROME - TREATMENT EXPERIENCE FROM A PILOT-STUDY

      European child & adolescent psychiatry
    98. TOLMIE J
      THE GENETICS OF MENTAL-RETARDATION

      Current opinion in psychiatry
    99. NEZU A; KIMURA S; TAKESHITA S; TANAKA M
      CHARACTERISTIC RESPONSE TO TRANSCRANIAL MAGNETIC STIMULATION IN RETT-SYNDROME

      ELECTROMYOGRAPHY AND MOTOR CONTROL-ELECTROENCEPHALOGRAPHY AND CLINICAL NEUROPHYSIOLOGY
    100. Berger-Sweeney, J
      The effects of neonatal basal forebrain lesions on cognition: Towards understanding the developmental role of the cholinergic basal forebrain

      INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 09/12/19 alle ore 14:50:53