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La ricerca find articoli where soggetti phrase all words 'FMR-1' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 188 riferimenti
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    1. 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
    2. Chen, L; Toth, M
      Fragile X mice develop sensory hyperreactivity to auditory stimuli

      NEUROSCIENCE
    3. Schultz-Pedersen, S; Hasle, H; Olsen, JH; Friedrich, U
      Evidence of decreased risk of cancer in individuals with fragile X

      AMERICAN JOURNAL OF MEDICAL GENETICS
    4. Zhang, YQ; Bailey, AM; Matthies, HJG; Renden, RB; Smith, MA; Speese, SD; Rubin, GM; Broadie, K
      Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function

      CELL
    5. Eliez, S; Blasey, CM; Freund, LS; Hastie, T; Reiss, AL
      Brain anatomy, gender and IQ in children and adolescents with fragile X syndrome

      BRAIN
    6. Saha, S; Karmakar, P; Chatterjee, C; Banerjee, D; Das, S; Dasgupta, UB
      Fragile X syndrome in Calcutta, India

      ANNALS OF CLINICAL BIOCHEMISTRY
    7. Mulatinho, MV; Llerena, JC; Pimentel, MMG
      FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation

      GENETIC TESTING
    8. 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

      GENETIC TESTING
    9. Murray, A; Ennis, S; Youings, SA; Sharrock, AJ; Lewis, C; Pound, MC; Macpherson, JN; Dennis, NR; Morton, NE; Jacobs, PA
      Stability and haplotype analysis of the FRAXE region

      EUROPEAN JOURNAL OF HUMAN GENETICS
    10. Balakumaran, BS; Freudenreich, CH; Zakian, VA
      CGG/CCG repeats exhibit orientation-dependent instability and orientation-independent fragility in Saccharomyces cerevisiae

      HUMAN MOLECULAR GENETICS
    11. Wang, YC; Li, C; Lin, ML; Lin, WH; Li, SY
      Molecular diagnosis of fragile X syndrome and distribution of CGG repeats in the FMR-1 gene in Taiwanese

      JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION
    12. Eliez, S; Reiss, AL
      Generics of childhood disorders: XI. Fragile X syndrome

      JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY
    13. Wan, LL; Dockendorff, TC; Jongens, TA; Dreyfuss, G
      Characterization of dFMR1, a Drosophila melanogaster homolog of the fragile X mental retardation protein

      MOLECULAR AND CELLULAR BIOLOGY
    14. Iqbal, MA; Sakati, N; Nester, M; Ozand, P
      Cytogenetic diagnosis of fragile X syndrome: Study of 305 suspected cases in Saudi Arabia

      ANNALS OF SAUDI MEDICINE
    15. Todd, PK; Mack, KJ
      Sensory stimulation increases cortical expression of the fragile X mental retardation protein in vivo

      MOLECULAR BRAIN RESEARCH
    16. Lewis, HA; Musunuru, K; Jensen, KB; Edo, C; Chen, H; Darnell, RB; Burley, SK
      Sequence-specific RNA binding by a Nova KH domain: Implications for paraneoplastic disease and the fragile X syndrome

      CELL
    17. Maes, B; Fryns, JP; Ghesquiere, P; Borghgraef, M
      Phenotypic checklist to screen for fragile X syndrome in people with mental retardation

      MENTAL RETARDATION
    18. Munir, F; Cornish, KM; Wilding, J
      A neuropsychological profile of attention deficits in young males with fragile X syndrome

      NEUROPSYCHOLOGIA
    19. Jensen, KB; Musunuru, K; Lewis, HA; Burley, SK; Darnell, RB
      The tetranucleotide UCAY directs the specific recognition of RNA by the Nova K-homology 3 domain

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    20. Willemsen, R; Olmer, R; Otero, YD; Oostra, BA
      Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype

      JOURNAL OF MEDICAL GENETICS
    21. Beresford, RG; Tatlidil, C; Riddell, DC; Welch, JP; Ludman, MD; Neumann, PE; Greer, WL
      Absence of fragile X syndrome in Nova Scotia

      JOURNAL OF MEDICAL GENETICS
    22. Weisman-Shomer, P; Naot, Y; Fry, M
      Tetrahelical forms of the fragile X syndrome expanded sequence d(CGG)(n) are destabilized by two heterogeneous nuclear ribonucleoprotein-related telomeric DNA-binding proteins

      JOURNAL OF BIOLOGICAL CHEMISTRY
    23. Musumeci, SA; Bosco, P; Calabrese, G; Bakker, C; De Sarro, GB; Elia, M; Ferri, R; Oostra, BA
      Audiogenic seizures susceptibility in transgenic mice with fragile X syndrome

      EPILEPSIA
    24. Houdayer, C; Lemonnier, A; Gerard, M; Chauve, C; Tredano, M; de Villemeur, TB; Aymard, P; Bonnefont, JP; Feldmann, D
      Improved fluorescent PCR-based assay for sizing CGG repeats at the FRAXA locus

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    25. Pimentel, MMG
      Fragile X syndrome

      INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE
    26. Strelnikov, V; Nemtsova, M; Chesnokova, G; Kuleshov, N; Zaletayev, D
      A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs

      HUMAN MUTATION
    27. Tzeng, CC; Cho, WC; Kuo, PL; Chen, RM
      Pilot fragile X screening in normal population of Taiwan

      DIAGNOSTIC MOLECULAR PATHOLOGY
    28. Kooy, RF; Reyniers, E; Verhoye, M; Sijbers, J; Bakker, CE; Oostra, BA; Willems, PJ; Van der Linden, A
      Neuroanatomy of the fragile X knockout mouse brain studied using in vivo high resolution magnetic resonance imaging

      EUROPEAN JOURNAL OF HUMAN GENETICS
    29. Tamanini, F; Bontekoe, C; Bakker, CE; van Unen, L; Anar, B; Willemsen, R; Yoshida, M; Galjaard, H; Oostra, BA; Hoogeveen, AT
      Different targets for the fragile X-related proteins revealed by their distinct nuclear localizations

      HUMAN MOLECULAR GENETICS
    30. Kirkpatrick, LL; McIlwain, KA; Nelson, DL
      Alternative splicing in the murine and human FXR1 genes

      GENOMICS
    31. Lambiris, N; Peters, H; Bollmann, R; Leschik, G; Leisti, J; Salonen, R; Cobet, G; Oostra, BA; Willemsen, R
      Rapid FMR1-protein analysis of fetal blood: an enhancement of prenatal diagnostics

      HUMAN GENETICS
    32. Paradee, W; Melikian, HE; Rasmussen, DL; Kenneson, A; Conn, PJ; Warren, ST
      Fragile X mouse: Strain effects of knockout phenotype and evidence suggesting deficient amygdala function

      NEUROSCIENCE
    33. Carrillo, C; Cisneros, B; Montanez, C
      Sp1 and AP2 transcription factors are required for the human fragile mental retardation promoter activity in SK-N-SH neuronal cells

      NEUROSCIENCE LETTERS
    34. White, PJ; Borts, RH; Hirst, MC
      Stability of the human fragile X (CGG)(n) triplet repeat array in Saccharomyces cerevisiae deficient in aspects of DNA metabolism

      MOLECULAR AND CELLULAR BIOLOGY
    35. Sermon, K; Seneca, S; Vanderfaeillie, A; Lissens, W; Joris, H; Vandervorst, M; Van Steirteghem, A; Liebaers, I
      Preimplantation diagnosis for fragile X syndrome based on the detection ofthe non-expanded paternal and maternal CGG

      PRENATAL DIAGNOSIS
    36. Kaufmann, WE; Reiss, AL
      Molecular and cellular genetics of fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    37. Zhong, N; Ju, WN; Xu, WM; Ye, LL; Shen, Y; Wu, GY; Chen, SH; Jin, RM; Hu, XF; Yang, AD; Liu, XX; Poon, P; Pang, C; Zheng, Y; Song, L; Zhao, P; Fu, BJ; Gu, HJ; Brown, WT
      Frequency of the fragile X syndrome in Chinese mentally retarded populations is similar to that in Caucasians

      AMERICAN JOURNAL OF MEDICAL GENETICS
    38. Haddad, LA; Aguiar, MJB; Costa, SS; Mingroni-Netto, RC; Vianna-Morgante, AM; Pena, SDJ
      Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys

      AMERICAN JOURNAL OF MEDICAL GENETICS
    39. Linden, MG; Tassone, F; Gane, LW; Hills, JL; Hagerman, RJ; Taylor, AK
      Compound heterozygous female with fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    40. Jenkins, EC; Wen, GY; Kim, KS; Zhong, N; Sapienza, VJ; Hong, H; Chen, J; Li, SY; Houck, GE; Ding, XH; Nolin, SL; Dobkin, CS; Brown, WT
      Prenatal fragile X detection using cytoplasmic and nuclear-specific monoclonal antibodies

      AMERICAN JOURNAL OF MEDICAL GENETICS
    41. 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
      Screening for the fragile X syndrome among the mentally retarded: a clinical study

      JOURNAL OF MEDICAL GENETICS
    42. Musumeci, SA; Hagerman, RJ; Ferri, R; Bosco, P; Dalla Bernardina, B; Tassinari, CA; De Sarro, GB; Elia, M
      Epilepsy and EEG findings in males with fragile X syndrome

      EPILEPSIA
    43. Tassone, F; Longshore, J; Zunich, J; Steinbach, P; Salat, U; Taylor, AK
      Tissue-specific methylation differences in a fragile X premutation carrier

      CLINICAL GENETICS
    44. Willemsen, R; Anar, B; Otero, YD; de Vries, BBA; Hilhorst-Hofstee, Y; Smits, A; van Looveren, E; Willems, PJ; Galjaard, H; Oostra, BA
      Noninvasive test for fragile X syndrome, using hair root analysis

      AMERICAN JOURNAL OF HUMAN GENETICS
    45. RAIN JC; RAFI Z; RHANI Z; LEGRAIN P; KRAMER A
      CONSERVATION OF FUNCTIONAL DOMAINS INVOLVED IN RNA-BINDING AND PROTEIN-PROTEIN INTERACTIONS IN HUMAN AND SACCHAROMYCES-CEREVISIAE PRE-MESSENGER-RNA SPLICING FACTOR SF1

      RNA
    46. Feldman, GL; Monaghan, KG
      Fragile X syndrome: A review of the molecular and clinical features

      JOURNAL OF CLINICAL LIGAND ASSAY
    47. Redolfi, E; Montagna, C; Mumm, S; Affer, M; Susani, L; Reinbold, R; Hol, F; Vezzoni, P; Cimino, M; Zucchi, I
      Identification of CXorf1, a novel intronless gene in Xq27.3, expressed in human hippocampus

      DNA AND CELL BIOLOGY
    48. MEZQUITA J; PAU M; MEZQUITA C
      4 ISOFORMS OF THE SIGNAL-TRANSDUCTION AND RNA-BINDING PROTEIN QKI EXPRESSED DURING CHICKEN SPERMATOGENESIS

      Molecular reproduction and development
    49. 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
    50. STORM K; HANDIG I; REYNIERS E; OOSTRA BA; KOOY RF; WILLEMS PJ
      INCOMPLETE ECORI DIGESTION MAY LEAD TO FALSE DIAGNOSIS OF FRAGILE-X-SYNDROME

      Human genetics
    51. GIBSON TJ; SPRING J
      GENETIC REDUNDANCY IN VERTEBRATES - POLYPLOIDY AND PERSISTENCE OF GENES ENCODING MULTIDOMAIN PROTEINS

      Trends in genetics
    52. MOGK RL; CARSON NL; CHUDLEY AE; DAWSON AJ
      TRANSMISSION OF THE FRAXA HAPLOTYPE FROM 3 NONPENETRANT BROTHERS TO THEIR AFFECTED GRANDSONS - AN UPDATE WITH AGG INTERSPERSION ANALYSIS

      American journal of medical genetics
    53. VORSANOVA SG; VEKHOVA NV; DEMIDOVA IA; YUROV YB
      SYNDROME OF MENTAL-RETARDATION, LINKED WITH FRAGILE X-CHROMOSOME - PROBLEMS OF DIAGNOSTICS AND INHERITANCE

      Zurnal nevropatologii i psihiatrii im. S.S. Korsakova
    54. JARA L; LOPEZ M; MELLADO C; ASPILLAGA M; AVENDANO I; BLANCO R
      CLINICAL AND METABOLIC SCREENING FOR FRAGILE-X-SYNDROME IN 300 PATIENTS WITH UNSPECIFIC MENTAL-RETARDATION

      Revista Medica de Chile
    55. Alliende, MA; Urzua, B; Valiente, A; Cortes, F; Curotto, B; Rojas, C
      Direct molecular analysis of FMR-1 gene mutation in patients with fragile Xq syndrome and their families

      REVISTA MEDICA DE CHILE
    56. KHO MR; BAKER DJ; LAAYOUN A; SMITH SS
      STALLING OF HUMAN DNA (CYTOSINE-5) METHYLTRANSFERASE AT SINGLE-STRANDCONFORMERS FROM A SITE OF DYNAMIC MUTATION

      Journal of Molecular Biology
    57. DEVRIES BBA; HALLEY DJJ; OOSTRA BA; NIERMEIJER MF
      THE FRAGILE-X-SYNDROME

      Journal of Medical Genetics
    58. WOHRLE D; SALAT U; GLASER D; MUCKE J; MEISELSTOSIEK M; SCHINDLER D; VOGEL W; STEINBACH P
      UNUSUAL MUTATIONS IN HIGH-FUNCTIONING FRAGILE-X MALES - APPARENT INSTABILITY OF EXPANDED UNMETHYLATED CGG REPEATS

      Journal of Medical Genetics
    59. JENKINS T; KRAUSE A
      MOLECULAR EVIDENCE THAT FRAGILE-X-SYNDROME OCCURS IN THE SOUTH-AFRICAN BLACK-POPULATION

      Journal of Medical Genetics
    60. WILSON PJ; WHITE BN
      SEX IDENTIFICATION OF ELK (CERVUS-ELAPHUS CANADENSIS), MOOSE (ALCES-ALCES), AND WHITE-TAILED DEER (ODOCOILEUS-VIRGINIANUS) USING THE POLYMERASE-CHAIN-REACTION

      Journal of forensic sciences
    61. DIFRUSCIO M; CHEN TP; BONYADI S; LASKO P; RICHARD S
      THE IDENTIFICATION OF 2 DROSOPHILA K-HOMOLOGY DOMAIN PROTEINS - KEP1 AND SAM ARE MEMBERS OF THE SAM68 FAMILY OF GSG DOMAIN PROTEINS

      The Journal of biological chemistry
    62. CHAN SY; WONG V
      DNA DIAGNOSIS OF FRAXA AND FRAXE IN CHINESE CHILDREN WITH NEURODEVELOPMENTAL DISORDERS AND FRAGILE-X-SYNDROME

      Clinical genetics
    63. STEINBACH P; GLASER D; VOGEL W; WOLF M; SCHWEMMLE S
      THE DMPK GENE OF SEVERELY AFFECTED MYOTONIC-DYSTROPHY PATIENTS IS HYPERMETHYLATED PROXIMAL TO THE LARGELY EXPANDED CTG REPEAT

      American journal of human genetics
    64. 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
    65. CHAKRABARTI L; DAVIES KE
      FRAGILE-X-SYNDROME

      Current opinion in neurology
    66. ABBEDUTO L; HAGERMAN RJ
      LANGUAGE AND COMMUNICATION IN FRAGILE-X-SYNDROME

      Mental retardation and developmental disabilities research reviews
    67. MALTER HE; IBER JC; WILLEMSEN R; DEGRAAFF E; TARLETON JC; LEISTI J; WARREN ST; OOSTRA BA
      CHARACTERIZATION OF THE FULL FRAGILE-X-SYNDROME MUTATION IN FETAL GAMETES

      Nature genetics
    68. WANG YC; LIN ML; LIN SJ; LI YC; LI SY
      NOVEL POINT MUTATION WITHIN INTRON-10 OF FMR-1 GENE CAUSING FRAGILE-X-SYNDROME

      Human mutation
    69. BARNICOAT A
      SCREENING FOR FRAGILE-X-SYNDROME - A MODEL FOR GENETIC-DISORDERS

      BMJ. British medical journal
    70. REDDY PS; HOUSMAN DE
      THE COMPLEX PATHOLOGY OF TRINUCLEOTIDE REPEATS

      Current opinion in cell biology
    71. GUPTA GK; BIANCHI DW
      DNA DIAGNOSIS FOR THE PRACTICING OBSTETRICIAN

      Obstetrics and gynecology clinics of North America
    72. OOSTRA BA; HOOGEVEEN AT
      ANIMAL-MODEL FOR FRAGILE-X-SYNDROME

      Annals of medicine
    73. ZORN AM; GROW M; PATTERSON KD; EBERSOLE TA; CHEN Q; ARTZT K; KRIEG PA
      REMARKABLE SEQUENCE CONSERVATION OF TRANSCRIPTS ENCODING AMPHIBIAN AND MAMMALIAN HOMOLOGS OF QUAKING, A KH DOMAIN RNA-BINDING PROTEIN

      Gene
    74. WILLEMSEN R; SMITS A; MOHKAMSING S; VANBEERENDONK H; DEHAAN A; DEVRIES B; VANDENOUWELAND A; SISTERMANS E; GALJAARD H; OOSTRA BA
      RAPID ANTIBODY-TEST FOR DIAGNOSING FRAGILE-X-SYNDROME - A VALIDATION OF THE TECHNIQUE

      Human genetics
    75. CHEN TP; DAMAJ BB; HERRERA C; LASKO P; RICHARD S
      SELF-ASSOCIATION OF THE SINGLE-KH-DOMAIN FAMILY MEMBERS SAM68, GRP33,GLD-1, AND QK1 - ROLE OF THE KH DOMAIN

      Molecular and cellular biology
    76. FENG Y; GUTEKUNST CA; EBERHART DE; YI H; WARREN ST; HERSCH SM
      FRAGILE-X MENTAL-RETARDATION PROTEIN - NUCLEOCYTOPLASMIC SHUTTLING AND ASSOCIATION WITH SOMATODENDRITIC RIBOSOMES

      The Journal of neuroscience
    77. MAZZOCCO MMM; KATES WR; BAUMGARDNER TL; FREUND LS; REISS AL
      AUTISTIC BEHAVIORS AMONG GIRLS WITH FRAGILE-X-SYNDROME

      Journal of autism and developmental disorders
    78. MAZZOCCO MMM; KNIGHT SJL; ABRAMS MT; DOHENY KF; BAUMGARDNER TL; FREUND LS; DAVIES KE; REISS AL
      COGNITIVE, BEHAVIORAL, AND NEUROANATOMICAL ASSESSMENT OF 2 UNRELATED MALE-CHILDREN EXPRESSING FRAXE

      American journal of medical genetics
    79. MINGRONINETTO RC; PAVANELLO RCM; OTTO PA; VIANNAMORGANTE AM
      EXPERIENCE WITH MOLECULAR AND CYTOGENETIC DIAGNOSIS OF FRAGILE-X-SYNDROME IN BRAZILIAN FAMILIES

      Brazilian journal of genetics
    80. HAGERMAN RJ
      FRAGILE-X-SYNDROME - MOLECULAR AND CLINICAL INSIGHTS AND TREATMENT ISSUES

      Western journal of medicine
    81. LALIOTI MD; SCOTT HS; BURESI C; ROSSIER C; BOTTANI A; MORRIS MA; MALAFOSSE A; ANTONARAKIS SE
      DODECAMER REPEAT EXPANSION IN CYSTATIN-B GENE IN PROGRESSIVE MYOCLONUS EPILEPSY

      Nature
    82. WEILER IJ; IRWIN SA; KLINTSOVA AY; SPENCER CM; BRAZELTON AD; MIYASHIRO K; COMERY TA; PATEL B; EBERWINE J; GREENOUGH WT
      FRAGILE-X MENTAL-RETARDATION PROTEIN IS TRANSLATED NEAR SYNAPSES IN RESPONSE TO NEUROTRANSMITTER ACTIVATION

      Proceedings of the National Academy of Sciences of the United Statesof America
    83. COMERY TA; HARRIS JB; WILLEMS PJ; OOSTRA BA; IRWIN SA; WEILER IJ; GREENOUGH WT
      ABNORMAL DENDRITIC SPINES IN FRAGILE-X KNOCKOUT MICE - MATURATION ANDPRUNING DEFICITS

      Proceedings of the National Academy of Sciences of the United Statesof America
    84. WILLEMSEN R; LOS F; MOHKAMSING S; VANDENOUWELAND A; DEELEN W; GALJAARD H; OOSTRA B
      RAPID ANTIBODY-TEST FOR PRENATAL-DIAGNOSIS OF FRAGILE-X-SYNDROME ON AMNIOTIC-FLUID CELLS - A NEW APPRAISAL

      Journal of Medical Genetics
    85. HECIMOVIC S; BARISIC I; MULLER A; PETKOVIC I; BARIC I; LIGUTIC I; PAVELIC K
      EXPAND LONG PCR FOR FRAGILE-X MUTATION DETECTION

      Clinical genetics
    86. 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
    87. DEVRIES BBA; VANDENOUWELAND AMW; MOHKAMSING S; DUIVENVOORDEN HJ; MOL E; GELSEMA K; VANRIJN M; HALLEY DJJ; SANDKUIJL LA; OOSTRA BA; TIBBEN A; NIERMEIJER MF
      SCREENING AND DIAGNOSIS FOR THE FRAGILE-X-SYNDROME AMONG THE MENTALLY-RETARDED - AN EPIDEMIOLOGIC AND PSYCHOLOGICAL SURVEY

      American journal of human genetics
    88. SCHWEMMLE S; DEGRAAFF E; DEISSLER H; GLASER D; WOHRLE D; KENNERKNECHT I; JUST W; OOSTRA BA; DORFLER W; VOGEL W; STEINBACH P
      CHARACTERIZATION OF FMR1 PROMOTER ELEMENTS BY IN-VIVO - FOOTPRINTING ANALYSIS

      American journal of human genetics
    89. VINCENT JB; KONECKI DS; MUNSTERMANN E; BOLTON P; POUSTKA A; POUSTKA F; GURLING HMD
      POINT MUTATION ANALYSIS OF THE FMR-1 GENE IN AUTISM

      Molecular psychiatry
    90. KHANDJIAN EW; CORBIN F; WOERLY S; ROUSSEAU F
      THE FRAGILE-X MENTAL-RETARDATION PROTEIN IS ASSOCIATED WITH RIBOSOMES

      Nature genetics
    91. DANIELS R; HOLDING C; KONTOGIANNI E; MONK M
      SINGLE-CELL ANALYSIS OF UNSTABLE GENES

      Journal of assisted reproduction and genetics
    92. HAGERMAN RJ
      FRAGILE-X SYNDROME

      Child and adolescent psychiatric clinics of North America
    93. MALZAC P; BIANCALANA V; VOELCKEL MA; MONCLA A; PELLISSIER MC; BOCCACCIO I; MATTEI JF
      UNEXPECTED INHERITANCE OF THE (CGG)(N) TRINUCLEOTIDE EXPANSION IN A FRAGILE-X SYNDROME FAMILY

      European journal of human genetics
    94. BARBE B; FRANKE P; MAIER W; LEBOYER M
      FRAGILE-X SYNDROME .1. AN OVERVIEW ON ITS GENETIC MECHANISM

      European psychiatry
    95. HADDAD LA; MINGRONINETTO RC; VIANNAMORGANTE AM; PENA SDJ
      A PCR-BASED TEST SUITABLE FOR SCREENING FOR FRAGILE-X SYNDROME AMONG MENTALLY-RETARDED MALES

      Human genetics
    96. MARIAPPAN SVS; CATASTI P; CHEN X; RATLIFF R; MOYZIS RK; BRADBURY EM; GUPTA G
      SOLUTION STRUCTURES OF THE INDIVIDUAL SINGLE STRANDS OF THE FRAGILE-XDNA TRIPLETS (GCC)(N)CENTER-DOT(GGC)(N)

      Nucleic acids research
    97. FRIDELL RA; BENSON RE; HUA J; BOGERD HP; CULLEN BR
      A NUCLEAR ROLE FOR THE FRAGILE-X MENTAL-RETARDATION PROTEIN

      EMBO journal
    98. SUTHERLAND GR; MULLEY JC
      FRAGILE-X-SYNDROME AND FRAGILE XE MENTAL-RETARDATION

      Prenatal diagnosis
    99. 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

      American journal of medical genetics
    100. GODFRAIND JM; REYNIERS E; DEBOULLE K; DHOOGE R; DEDEYN PP; BAKKER CE; OOSTRA BA; KOOY RF; WILLEMS PJ
      LONG-TERM POTENTIATION IN THE HIPPOCAMPUS OF FRAGILE-X KNOCKOUT MICE

      American journal of medical genetics


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Documento generato il 30/10/20 alle ore 03:37:04