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La ricerca find articoli where soggetti phrase all words 'FRAGILE-X SYNDROME' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 803 riferimenti
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    1. Kenneson, A; Warren, ST
      The female and the fragile X reviewed

      SEMINARS IN REPRODUCTIVE MEDICINE
    2. Kallinen, J; Marin, K; Heinonen, S; Mannermaa, A; Palotie, A; Ryynanen, M
      Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: integration of gene tests and fetal karyotyping

      BRITISH JOURNAL OF OBSTETRICS AND GYNAECOLOGY
    3. Simonsson, T
      G-quadruplex DNA structures - Variations on a theme

      BIOLOGICAL CHEMISTRY
    4. Timmermann, S; Lehrmann, H; Polesskaya, A; Harel-Bellan, A
      Histone acetylation and disease

      CELLULAR AND MOLECULAR LIFE SCIENCES
    5. Musumeci, SA; Ferri, R; Scuderi, C; Bosco, P; Elia, M
      Seizures and epileptiform EEG abnormalities in FRAXE syndrome

      CLINICAL NEUROPHYSIOLOGY
    6. Evenhuis, H; Henderson, CM; Beange, H; Lennox, N; Chicoine, B
      Healthy ageing - Adults with intellectual disabilities: Physical health issues

      JOURNAL OF APPLIED RESEARCH IN INTELLECTUAL DISABILITIES
    7. Akiyama, T; Gohda, J; Shibata, S; Nomura, Y; Azuma, S; Ohmori, Y; Sugano, S; Arai, H; Yamamoto, T; Inoue, J
      Mammalian homologue of E-coli ras-like GTPase (ERA) is a possible apoptosis regulator with RNA binding activity

      GENES TO CELLS
    8. Crawford, DC; Acuna, JM; Sherman, SL
      FMR1 and the fragile X syndrome: Human genome epidemiology review

      GENETICS IN MEDICINE
    9. Worbs, M; Bourenkov, GP; Bartunik, HD; Huber, R; Wahl, MC
      An extended RNA binding surface through arrayed S1 and KH domains in transcription factor NusA

      MOLECULAR CELL
    10. Hagerman, RJ; Hagerman, PJ
      Fragile X syndrome: A model of gene-brain-behavior relationships

      MOLECULAR GENETICS AND METABOLISM
    11. Castellvi-Bel, S; Mila, M
      Genes responsible for nonspecific mental retardation

      MOLECULAR GENETICS AND METABOLISM
    12. Hegde, MR; Fawkner, M; Chong, B; McGaughran, J; Gilbert, D; Love, DR
      Compound heterozygosity at the FMR1 gene

      GENETIC TESTING
    13. Abbeduto, L; Evans, J; Dolan, T
      Theoretical perspectives on language and communication problems in mental retardation and developmental disabilities

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    14. Mallolas, J; Duran, M; Sanchez, A; Jimenez, D; Castellvi-Bel, S; Rife, M; Mila, M
      Implications of the FMR1 gene in menopause: study of 147 Spanish women

      MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY
    15. Jacobson, JW
      Environmental postmodernism and rehabilitation of the borderline of mentalretardation

      BEHAVIORAL INTERVENTIONS
    16. Santos, CB; Lima, MAC; Pimentel, MMG
      A new PCR assay useful for screening of FRAXE/FMR2 mental impairment amongmales

      HUMAN MUTATION
    17. Sabaratnam, M; Vroegop, PG; Gangadharan, SK
      Epilepsy and EEG findings in 18 males with fragile X syndrome

      SEIZURE-EUROPEAN JOURNAL OF EPILEPSY
    18. Plomin, R
      Genetic factors contributing to learning and language delays and disabilities

      CHILD AND ADOLESCENT PSYCHIATRIC CLINICS OF NORTH AMERICA
    19. Tzeng, CC; Lin, SJ; Chen, YJ; Kuo, PL; Jong, YJ; Tsai, LP; Chen, RM
      An effective strategy of using molecular testing to screen mentally retarded individuals for fragile X syndrome

      DIAGNOSTIC MOLECULAR PATHOLOGY
    20. Larsen, LA; Vuust, J; Nystad, M; Evseeva, I; Van Ghelue, M; Tranebjaerg, L
      Analysis of FMR1 (CGG)(n) alleles and DXS548-FRAXAC1 haplotypes in three European circumpolar populations: traces of genetic relationship with Asia

      EUROPEAN JOURNAL OF HUMAN GENETICS
    21. Kooy, RF; Verhoye, M; Lemmon, V; Van Der Linden, A
      Brain studies of mouse models for neurogenetic disorders using in vivo magnetic resonance imaging (MRI)

      EUROPEAN JOURNAL OF HUMAN GENETICS
    22. Kwon, SH; Lee, KS; Hyun, MC; Song, KE; Kim, JK
      Molecular screening for Fragile X syndrome in mentally handicapped children in Korea

      JOURNAL OF KOREAN MEDICAL SCIENCE
    23. Fulmer-Smentek, SB; Francke, U
      Association of acetylated histones with paternally expressed genes in the Prader-Willi deletion region

      HUMAN MOLECULAR GENETICS
    24. Richards, RI
      Dynamic mutations: a decade of unstable expanded repeats in human genetic disease

      HUMAN MOLECULAR GENETICS
    25. Bontekoe, CJM; Bakker, CE; Nieuwenhuizen, IM; van der Linde, H; Lans, H; de Lange, D; Hirst, MC; Oostra, BA
      Instability of a (CGG)(98) repeat in the Fmr1 promoter

      HUMAN MOLECULAR GENETICS
    26. 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
    27. Perez-Canadillas, JM; Varani, G
      Recent advances in RNA-protein recognition

      CURRENT OPINION IN STRUCTURAL BIOLOGY
    28. Rickert, CH; Grabellus, F; Varchmin-Schultheiss, K; Stoss, H; Paulus, W
      Sudden unexpected death in young adults with chronic hydrocephalus

      INTERNATIONAL JOURNAL OF LEGAL MEDICINE
    29. Cornish, KM; Munir, F; Cross, G
      Differential impact of the FMR-1 full mutation on memory and attention functioning: A neuropsychological perspective

      JOURNAL OF COGNITIVE NEUROSCIENCE
    30. Ethell, IM; Irie, F; Kalo, MS; Couchman, JR; Pasquale, EB; Yamaguchi, Y
      EphB/syndecan-2 signaling in dendritic spine morphogenesis

      NEURON
    31. Bailey, DB; Roberts, JE; Mirrett, P; Hatton, DD
      Identifying infants and toddlers with fragile X syndrome: Issues and recommendations

      INFANTS AND YOUNG CHILDREN
    32. Hodapp, RM; Dykens, EM
      Strengthening behavioral research on genetic mental retardation syndromes

      AMERICAN JOURNAL ON MENTAL RETARDATION
    33. Bustamante-Calvillo, ME; Velazquez, FR; Cabrera-Munoz, L; Torres, J; Gomez-Delgado, A; Moreno, JAE; Munoz-Hernandez, O
      Molecular detection of respiratory syncytial virus in postmortem lung tissue samples from Mexican children deceased with pneumonia

      PEDIATRIC INFECTIOUS DISEASE JOURNAL
    34. Lee, MH; Schedl, T
      Identification of in vivo mRNA targets of GLD-1, a maxi-KH motif containing protein required for C-elegans germ cell development

      GENES & DEVELOPMENT
    35. 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
    36. Ferri, R; Elia, M; Musumeci, SA; Cosentino, FII; Roccasalva, G; Spada, RS; Toscano, G
      Somatosensory evoked potentials in patients affected by unilateral cerebrovascular lesions with onset during the perinatal period or adulthood

      JOURNAL OF CHILD NEUROLOGY
    37. Kovtun, IV; Goellner, G; McMurray, CT
      Structural features of trinucleotide repeats associated with DNA expansion

      BIOCHEMISTRY AND CELL BIOLOGY-BIOCHIMIE ET BIOLOGIE CELLULAIRE
    38. Sharma, D; Gupta, M; Thelma, BK
      Expansion mutation frequency and CGG/GCC repeat polymorphism in FMR1 and FMR2 genes in an Indian population

      GENETIC EPIDEMIOLOGY
    39. Brockhurst, V; Barnard, R; Wolter, L; Giffard, P; Timms, P
      Development of ligase-assisted spacer addition for the measurement of microsatellites

      BIOTECHNIQUES
    40. Bassett, AS; Chow, EWC; O'Neill, S; Brzustowicz, LM
      Genetic insights into the neurodevelopmental hypothesis of schizophrenia

      SCHIZOPHRENIA BULLETIN
    41. Masino, L; Pastore, A
      A structural approach to trinucleotide expansion diseases

      BRAIN RESEARCH BULLETIN
    42. Chen, L; Toth, M
      Fragile X mice develop sensory hyperreactivity to auditory stimuli

      NEUROSCIENCE
    43. Grishin, NV
      KH domain: one motif, two folds

      NUCLEIC ACIDS RESEARCH
    44. Rojsitthisak, P; Romero, RM; Haworth, IS
      Extrahelical cytosine bases in DNA duplexes containing d[GCC](n)center dotd[GCC](n) repeats: detection by a mechlorethamine crosslinking reaction

      NUCLEIC ACIDS RESEARCH
    45. Sermon, K; Seneca, S; De Rycke, M; Goossens, V; Van de Velde, H; De Vos, A; Platteau, P; Lissens, W; Van Steirteghem, A; Liebaers, I
      PGD in the lab for triplet repeat diseases - myotonic dystrophy, Huntington's disease and Fragile-X syndrome

      MOLECULAR AND CELLULAR ENDOCRINOLOGY
    46. Smith, M; Escamilla, JR; Filipek, P; Bocian, ME; Modahl, C; Flodman, P; Spence, MA
      Molecular genetic delineation of 2q37.3 deletion in autism and osteodystrophy: report of a case and of new markers for deletion screening by PCR

      CYTOGENETICS AND CELL GENETICS
    47. Gianarris, WJ; Golden, CJ; Greene, L
      The Conners' Parent Rating Scales: A critical review of the literature

      CLINICAL PSYCHOLOGY REVIEW
    48. Castren, M; Haapasalo, A; Oostra, BA; Castren, E
      Subcellular localization of fragile X mental retardation protein with the I304N mutation in the RNA-binding domain in cultured hippocampal neurons

      CELLULAR AND MOLECULAR NEUROBIOLOGY
    49. Imai, T; Tokunaga, A; Yoshida, T; Hashimoto, M; Mikoshiba, K; Weinmaster, G; Nakafuku, M; Okano, H
      The neural RNA-binding protein Musashi1 translationally regulates mammalian numb gene expression by interacting with its mRNA

      MOLECULAR AND CELLULAR BIOLOGY
    50. Nimchinsky, EA; Oberlander, AM; Svoboda, K
      Abnormal development of dendritic spines in FMR1 knock-out mice

      JOURNAL OF NEUROSCIENCE
    51. Schaeffer, C; Bardoni, B; Mandel, JL; Ehresmann, B; Ehresmann, C; Moine, H
      The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motif

      EMBO JOURNAL
    52. Apessos, A; Abou-Sleiman, PM; Harper, JC; Delhanty, JDA
      Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

      PRENATAL DIAGNOSIS
    53. 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

      ELECTROPHORESIS
    54. Coupland, NJ
      Social phobia: Etiology, neurobiology, and treatment

      JOURNAL OF CLINICAL PSYCHIATRY
    55. Limprasert, P; Saechan, V; Ruangdaraganon, N; Sura, T; Vasiknanote, P; Jaruratanasirikul, S; Brown, WT
      Haplotype analysis at the FRAXA locus in Thai subjects

      AMERICAN JOURNAL OF MEDICAL GENETICS
    56. Irwin, SA; Patel, B; Idupulapati, M; Harris, JB; Crisostomo, RA; Larsen, BP; Kooy, F; Willems, PJ; Cras, P; Kozlowski, PB; Swain, RA; Weiler, IJ; Greenough, WT
      Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: A quantitative examination

      AMERICAN JOURNAL OF MEDICAL GENETICS
    57. McConkie-Rosell, A; Spiridigliozzi, GA; Sullivan, JA; Dawson, DV; Lachiewicz, AM
      Longitudinal study of the carrier testing process for fragile X syndrome: Perceptions and coping

      AMERICAN JOURNAL OF MEDICAL GENETICS
    58. Maat-Kievit, A; Helderman-van den Enden, P; Losekoot, M; de Knijff, P; Belfroid, R; Vegter-van der Vlis, M; Roos, R; Breuning, M
      Using a roster and haplotyping is useful in risk assessment for persons with intermediate and reduced penetrance alleles in Huntington disease

      AMERICAN JOURNAL OF MEDICAL GENETICS
    59. Johnston, C; Eliez, S; Dyer-Friedman, J; Hessl, D; Glaser, B; Blasey, C; Taylor, A; Reiss, A
      Neurobehavioral phenotype in carriers of the fragile X premutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    60. Mazzocco, MMM; Kelley, RI
      Preliminary evidence for a cognitive phenotype in Barth syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    61. Musunuru, K; Darnell, RB
      Paraneoplastic neurologic disease antigens: RNA-binding proteins and signaling proteins in neuronal degeneration

      ANNUAL REVIEW OF NEUROSCIENCE
    62. Jallinoja, P
      Genetic screening in maternity care: preventive aims and voluntary choices

      SOCIOLOGY OF HEALTH & ILLNESS
    63. Bowater, RP; Wells, RD
      The intrinsically unstable life of DNA triplet repeats associated with human hereditary disorders

      PROGRESS IN NUCLEIC ACID RESEARCH AND MOLECULAR BIOLOGY, VOL 66
    64. Stodgell, CJ; Ingram, JL; Hyman, SL
      The role of candidate genes in unraveling the genetics of autism

      INTERNATIONAL REVIEW OF RESEARCH IN MENTAL RETARDATION, VOL 23
    65. Liu, ZH; Luyten, I; Bottomley, MJ; Messias, AC; Houngninou-Molango, S; Sprangers, R; Zanier, K; Kramer, A; Sattler, M
      Structural basis for recognition of the intron branch site RNA by splicingfactor 1

      SCIENCE
    66. Liquori, CL; Ricker, K; Moseley, ML; Jacobsen, JF; Kress, W; Naylor, SL; Day, JW; Ranum, LPW
      Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9

      SCIENCE
    67. Hessl, D; Dyer-Friedman, J; Glaser, B; Wisbeck, J; Barajas, RG; Taylor, A; Reiss, AL
      The influence of environmental and genetic factors on behavior problems and autistic symptoms in boys and girls with fragile X syndrome

      PEDIATRICS
    68. Siyanova, EY; Mirkin, SM
      Expansion of trinucleotide repeats

      MOLECULAR BIOLOGY
    69. Schmitt, JE; Eliez, S; Warsofsky, IS; Bellugi, U; Reiss, AL
      Enlarged cerebellar vermis in Williams syndrome

      JOURNAL OF PSYCHIATRIC RESEARCH
    70. Hegde, MR; Chong, B; Fawkner, M; Lambiris, N; Peters, H; Kenneson, A; Warren, ST; Love, DR; McGaughran, J
      Microdeletion in the FMR-1 gene: an apparent null allele using routine clinical PCR amplification

      JOURNAL OF MEDICAL GENETICS
    71. Dykens, EM; Hodapp, RM
      Research in mental retardation: Toward an etiologic approach

      JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY AND ALLIED DISCIPLINES
    72. Chiang, PW; Carpenter, LE; Hagerman, PJ
      The 5 '-untranslated region of the FMR1 message facilitates translation byinternal ribosome entry

      JOURNAL OF BIOLOGICAL CHEMISTRY
    73. Thisted, T; Lyakhov, DL; Liebhaber, SA
      Optimized RNA targets of two closely related triple KH domain proteins, heterogeneous nuclear ribonucleoprotein K and alpha CP-2KL, suggest distinct modes of RNA recognition

      JOURNAL OF BIOLOGICAL CHEMISTRY
    74. Kamath-Loeb, AS; Loeb, LA; Johansson, E; Burgers, PMJ; Fry, M
      Interactions between the Werner syndrome helicase and DNA polymerase deltaspecifically facilitate copying of tetraplex and hairpin structures of thed(CGG)(n) trinucleotide repeat sequence

      JOURNAL OF BIOLOGICAL CHEMISTRY
    75. Elia, M; Musumeci, SA; Ferri, R; Ayala, GF
      Chromosome abnormalities and epilepsy

      EPILEPSIA
    76. Roberts, JE; Boccia, ML; Bailey, DB; Hatton, DD; Skinner, M
      Cardiovascular indices of physiological arousal in boys with fragile X syndrome

      DEVELOPMENTAL PSYCHOBIOLOGY
    77. Wiernik, PH; Ashwin, M; Hu, XP; Paietta, E; Brown, K
      Anticipation in familial chronic lymphocytic leukaemia

      BRITISH JOURNAL OF HAEMATOLOGY
    78. Eliez, S; Blasey, CM; Freund, LS; Hastie, T; Reiss, AL
      Brain anatomy, gender and IQ in children and adolescents with fragile X syndrome

      BRAIN
    79. Auer, RL; Jones, C; Mullenbach, RA; Syndercombe-Court, D; Milligan, DW; Fegan, CD; Cotter, FE
      Role for CCG-trinucleotide repeats in the pathogenesis of chronic lymphocytic leukemia

      BLOOD
    80. Eliez, S; Schmitt, JE; White, CD; Wellis, VG; Reiss, AL
      A quantitative MRI study of posterior fossa development in velocardiofacial syndrome

      BIOLOGICAL PSYCHIATRY
    81. Liu, ZJ; Li, P; Kocabas, A; Karsi, A; Ju, ZL
      Microsatellite-containing genes from the channel catfish brain: Evidence of trinucleotide repeat expansion in the coding region of nucleotide excision repair gene RAD23B

      BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
    82. Romero, RM; Rojsitthisak, P; Haworth, IS
      DNA interstrand crosslink formation by mechlorethamine at a cytosine-cytosine mismatch pair: Kinetics and sequence dependence

      ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS
    83. Van Buggenhout, GJCM; Trommelen, JCM; Brunner, HG; Hamel, BCJ; Fryns, JP
      The clinical phenotype in institutionalised adult males with X-linked mental retardation (XLMR)

      ANNALES DE GENETIQUE
    84. Yang, IV; Thorp, HH
      Modification of indium tin oxide electrodes with repeat polynucleotides: Electrochemical detection of trinucleotide repeat expansion

      ANALYTICAL CHEMISTRY
    85. Lauritsen, MB; Ewald, H
      The genetics of autism

      ACTA PSYCHIATRICA SCANDINAVICA
    86. Cummings, CJ; Zoghbi, HY
      Trinucleotide repeats: Mechanisms and pathophysiology

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    87. Murray, A
      Premature ovarian failure and the FMR1 gene

      SEMINARS IN REPRODUCTIVE MEDICINE
    88. Robertson, KD; Wolffe, AP
      DNA methylation in health and disease

      NATURE REVIEWS GENETICS
    89. Poon, PMK; Zhao, Z; Wu, XQ; Ni, YX; Pang, CP
      Rapid analysis of CGG repeat length in the FMR1 gene

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    90. Usdin, K; Grabczyk, E
      DNA repeat expansions and human disease

      CELLULAR AND MOLECULAR LIFE SCIENCES
    91. Musumeci, SA; Scuderi, C; Ferri, R; Anello, G; Salluzzo, R; Bosco, P; Elia, M
      Does a peculiar EEG pattern exist also for FRAXE mental retardation?

      CLINICAL NEUROPHYSIOLOGY
    92. Kondoh, H; Yuasa, T; Yanagida, M
      Mis3 with a conserved RNA binding motif is essential for ribosome biogenesis and implicated in the start of cell growth and S phase checkpoint

      GENES TO CELLS
    93. Mulatinho, MV; Llerena, JC; Pimentel, MMG
      FRAXE mutation in mentally retarded patients using the OxE18 probe

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    94. Burman, RW; Anoe, KS; Popovich, BW
      Fragile X full mutations ave more similar in siblings than in unrelated patients: further evidence for a familial factor in CGG repeat dynamics

      GENETICS IN MEDICINE
    95. Mulatinho, MV; Llerena, JC; Pimentel, MMG
      FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation

      GENETIC TESTING
    96. Gold, B; Radu, D; Balanko, A; Chiang, CS
      Diagnosis of Fragile X syndrome by Southern blot hybridization using a chemiluminescent probe: A laboratory protocol

      MOLECULAR DIAGNOSIS
    97. Francis, D; Burgess, T; Mitchell, J; Slater, H
      Identification of small FRAXA premutations

      MOLECULAR DIAGNOSIS
    98. Ehrlich, M
      DNA methylation: Normal development, inherited diseases, and cancer

      JOURNAL OF CLINICAL LIGAND ASSAY
    99. Caplan, R; Austin, JK
      Behavioral. aspects of epilepsy in children with mental retardation

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS
    100. Reiss, AL; Eliez, S; Schmitt, JE; Patwardhan, A; Haberecht, M
      Brain imaging in neurogenetic conditions: Realizing the potential of behavioral neurogenetics research

      MENTAL RETARDATION AND DEVELOPMENTAL DISABILITIES RESEARCH REVIEWS


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Documento generato il 29/10/20 alle ore 06:24:21