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    1. Njajou, OT; Vaessen, N; Joosse, M; Berghuis, B; van Dongen, JWF; Breuning, MH; Snijders, PJLM; Rutten, WPF; Sandkuijl, LA; Oostra, BA; van Duijn, CM; Heutink, P
      A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis

      NATURE GENETICS
    2. Galjaard, RJH; Kostakoglu, N; Hoogeboom, JJM; Breedveld, GJ; van der Linde, HC; Hovius, SER; Oostra, BA; Sandkuijl, LA; Akarsu, AN; Heutink, P
      X-linked recessive inheritance of radial ray deficiencies in a family withfour affected males

      EUROPEAN JOURNAL OF HUMAN GENETICS
    3. 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
    4. Heus, HC; Luijsterburg, AJM; van Baren, MJ; Breedveld, GJ; Joosse, MN; Nieuwenhuizen, IM; Vermeij-Keers, C; Oostra, BA; Heutink, P
      Hemimelic extra toes and Hammer toe are distinct mutations that show a genetic interaction

      MAMMALIAN GENOME
    5. Harhangi, BS; Oostra, BA; Heutink, P; van Duijn, CM; Hofman, A; Breteler, MMB
      CYP2D6 polymorphism in Parkinson's disease: The Rotterdam study

      MOVEMENT DISORDERS
    6. 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
    7. Van Dam, D; D'Hooge, R; Hauben, E; Reyniers, E; Gantois, I; Bakker, CE; Oostra, BA; Kooy, RF; De Deyn, PP
      Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice (vol 117, pg 127, 2000)

      BEHAVIOURAL BRAIN RESEARCH
    8. Galjaard, RJH; van der Ham, LI; Posch, NAS; Dijkstra, PF; Oostra, BA; Hovius, SER; Timmenga, EJF; Sonneveld, GJ; Hoogeboom, AJM; Heutink, P
      Differences in complexity of isolated brachydactyly type C cannot be attributed to locus heterogeneity alone

      AMERICAN JOURNAL OF MEDICAL GENETICS
    9. Vaessen, N; Heutink, P; Janssen, JA; Witteman, JCM; Testers, L; Hofman, A; Lamberts, SWJ; Oostra, BA; Pols, HAP; van Duijn, CM
      A polymorphism in the gene for IGF-I - Functional properties and risk for type 2 diabetes and myocardial infarction

      DIABETES
    10. Kooy, RF; Willemsen, R; Oostra, BA
      Fragile X syndrome at the turn of the century

      MOLECULAR MEDICINE TODAY
    11. Chiurazzi, P; Oostra, BA
      Genetics of mental retardation

      CURRENT OPINION IN PEDIATRICS
    12. Tamanini, F; Kirkpatrick, LL; Schonkeren, J; van Unen, L; Bontekoe, C; Bakker, C; Nelson, DL; Galjaard, H; Oostra, BA; Hoogeveen, AT
      The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins

      HUMAN MOLECULAR GENETICS
    13. Verwest, AM; Poelman, M; Dinjens, WNM; Batstra, MR; Oostra, BA; Lequin, MH; Larsson, LI; Aanstoot, HJ; Bruining, GJ; de Krijger, RR
      Absence of a PDX-1 mutation and normal gastroduodenal immunohistology in achild with pancreatic agenesis

      VIRCHOWS ARCHIV-AN INTERNATIONAL JOURNAL OF PATHOLOGY
    14. de Vries, BBA; Oostra, BA
      The fragile X syndrome: A model for mental retardation

      NEUROSCIENCE RESEARCH COMMUNICATIONS
    15. Bakker, CE; Kooy, RF; D'Hooge, R; Tamanini, F; Willemsen, R; Nieuwenhuizen, I; De Vries, BBA; Reyniers, E; Hoogeveen, AT; Willems, PJ; De Deyn, PP; Oostra, BA
      Introduction of a FMR1 transgene in the fragile X knockout mouse.

      NEUROSCIENCE RESEARCH COMMUNICATIONS
    16. Arocena, DG; de Diego, Y; Oostra, BA; Willemsen, R; Rodriguez, MM
      A fragile X case with an amplification/deletion mosaic pattern

      HUMAN GENETICS
    17. Van Dam, D; D'Hooge, R; Hauben, E; Reyniers, E; Gantois, I; Bakker, CE; Oostra, BA; Kooy, RF; De Deyn, PP
      Spatial learning, contextual fear conditioning and conditioned emotional response in Fmr1 knockout mice

      BEHAVIOURAL BRAIN RESEARCH
    18. Willemsen, R; Oostra, BA
      FMRP detection assay for the diagnosis of the fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    19. 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
    20. Bakker, CE; Otero, YD; Bontekoe, C; Raghoe, P; Luteijn, T; Hoogeveen, AT; Oostra, BA; Willemsen, R
      Immunocytochemical and biochemical characterization of FMRP, FXR1P, and FXR2P in the mouse

      EXPERIMENTAL CELL RESEARCH
    21. 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
    22. Hundscheid, RDL; Thomas, CMG; Braat, DDM; Oostra, BA; Smits, APT
      Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X - Reply

      AMERICAN JOURNAL OF HUMAN GENETICS
    23. Hundscheid, RDL; Sistermans, EA; Thomas, CMG; Braat, DDM; Straatman, H; Kiemeney, LALM; Oostra, BA; Smits, APT
      Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations

      AMERICAN JOURNAL OF HUMAN GENETICS
    24. 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
    25. 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
    26. Chiurazzi, P; Pomponi, MG; Pietrobono, R; Bakker, CE; Neri, G; Oostra, BA
      Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene

      HUMAN MOLECULAR GENETICS
    27. Froelich, S; Houlden, H; Rizzu, P; Chakraverty, S; Baker, M; Kwon, J; Nowotny, P; Isaacs, A; Nowotny, V; Wauters, E; van Baren, MJ; Oostra, BA; Hardy, J; Lannfelt, L; Goate, A; Hutton, M; Lendon, CL; Heutink, P
      Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21

      GENOMICS
    28. Heus, HC; Hing, A; van Baren, MJ; Joose, M; Breedveld, GJ; Wang, JC; Burgess, A; Donnis-Keller, H; Berglund, C; Zguricas, J; Scherer, SW; Rommens, JM; Oostra, BA; Heutink, P
      A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36

      GENOMICS
    29. 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
    30. Harhangi, BS; Farrer, MJ; Lincoln, S; Bonifati, V; Meco, G; De Michele, G; Brice, A; Durr, A; Martinez, M; Gasser, T; Bereznai, B; Vaughan, JR; Wood, NW; Hardy, J; Oostra, BA; Breteler, MMB
      The lle93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease

      NEUROSCIENCE LETTERS
    31. Tamanini, F; van Unen, L; Bakker, C; Sacchi, N; Galjaard, H; Oostra, BA; Hoogeveen, AT
      Oligomerization properties of fragile-X mental-retardation protein (FMRP) and the fragile-X-related proteins FXR1P and FXR2P

      BIOCHEMICAL JOURNAL
    32. Reyniers, E; Martin, JJ; Cras, P; Van Marck, E; Handig, I; Jorens, HZJ; Oostra, BA; Kooy, RF; Willems, PJ
      Postmortem examination of two fragile X brothers with an FMR1 full mutation

      AMERICAN JOURNAL OF MEDICAL GENETICS
    33. Tassone, F; Hagerman, RJ; Ikle, DN; Dyer, PN; Lampe, M; Willemsen, R; Oostra, BA; Taylor, AK
      FMRP expression as a potential prognostic indicator in fragile X syndrome

      AMERICAN JOURNAL OF MEDICAL GENETICS
    34. Fisch, GS; Hao, HK; Bakker, C; Oostra, BA
      Learning and memory in the FMR1 knockout mouse

      AMERICAN JOURNAL OF MEDICAL GENETICS
    35. 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
    36. Harhangi, BS; Oostra, BA; Heutink, P; van Duijn, CM; Hofman, A; Breteler, MMB
      N-acetyltransferase-2 polymorphism in Parkinson's disease: the Rotterdam study

      JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
    37. 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
    38. Helderman-van den Enden, ATJM; Maaswinkel-Mooij, PD; Hoogendoorn, E; Willemsen, R; Maat-Kievit, JA; Losekoot, M; Oostra, BA
      Monozygotic twin brothers with the fragile X syndrome: different CGG repeats and different mental capacities

      JOURNAL OF MEDICAL GENETICS
    39. De Vries, BBA; Halley, DJJ; Oostra, BA; Niermeijer, MF
      Fragile X syndrome: of POF and premutations

      JOURNAL OF MEDICAL GENETICS
    40. Zguricas, J; Heus, H; Morales-Peralta, E; Breedveld, G; Kuyt, B; Mumcu, EF; Bakker, W; Akarsu, N; Kay, SPJ; Hovius, SER; Heredero-Baute, L; Oostra, BA; Heutink, P
      Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36

      JOURNAL OF MEDICAL GENETICS
    41. 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
    42. Rizzu, P; Van Swieten, JC; Joosse, M; Hasegawa, M; Stevens, M; Tibben, A; Niermeijer, MF; Hillebrand, M; Ravid, R; Oostra, BA; Goedert, M; van Duijn, CM; Heutink, P
      High prevalence of mutations in the microtubule-associated protein tau in a population study of frontotemporal dementia in the Netherlands

      AMERICAN JOURNAL OF HUMAN GENETICS
    43. KOOY F; REYNIERS E; VERHOYE M; SIJBERS J; FRANSEN E; OOSTRA BA; WILLEMS PJ; VANDERLINDEN A
      MRI AS A TOOL TO STUDY BRAIN STRUCTURE FROM MOUSE MODELS OF MENTAL-RETARDATION

      European journal of human genetics
    44. BIJVOET AGA; VANDEKAMP EHM; KROOS MA; VANHIRTUM JP; SCHONEVELD JLM; DING JH; YANG BZ; VISSER P; VERBEET MP; OOSTRA BA; REUSER AJJ; VANDERPLOEG AT
      KNOCKOUT MOUSE MODEL OF GLYCOGEN-STORAGE-DISEASE TYPE-II - ENZYME THERAPY AT THE TEST

      European journal of human genetics
    45. TAMANINI F; VANUNEN L; BONTEKOE C; BAKKER; WILLEMSEN R; OOSTRA BA; HOOGEVEEN AT
      OLIGOMERIZATION AND INTRACELLULAR-TRANSPORT OF THE FRAGILE-X MENTAL-RETARDATION PROTEIN

      European journal of human genetics
    46. BIJVOET AGA; VANDEKAMP EHM; KROOS MA; DING JH; YANG BZ; VISSER P; BAKKER CE; VERBEET MP; OOSTRA BA; REUSER AJJ; VANDERPLOEG AT
      GENERALIZED GLYCOGEN-STORAGE AND CARDIOMEGALY IN A KNOCKOUT MOUSE MODEL OF POMPE-DISEASE

      Human molecular genetics
    47. CHIURAZZI P; POMPONI MG; WILLEMSEN R; OOSTRA BA; NERI G
      IN-VITRO REACTIVATION OF THE FMR1 GENE INVOLVED IN FRAGILE-X-SYNDROME

      Human molecular genetics
    48. STEWARD O; BAKKER CE; WILLEMS PJ; OOSTRA BA
      NO EVIDENCE FOR DISRUPTION OF NORMAL PATTERNS OF MESSENGER-RNA LOCALIZATION IN DENDRITES OR DENDRITIC TRANSPORT OF RECENTLY SYNTHESIZED MESSENGER-RNA IN FMR1 KNOCKOUT MICE, A MODEL FOR HUMAN FRAGILE-X MENTAL-RETARDATION SYNDROME

      NeuroReport
    49. 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
    50. de Vries, BBA; Mohkamsing, S; van den Ouweland, AMW; Halley, DJJ; Niermeijer, MF; Oostra, BA; Willemsen, R
      Screening with the FMR1 protein test among mentally retarded males

      HUMAN GENETICS
    51. OOSTRA BA
      FRAGILE-X-SYNDROME IS CAUSED BY A FRAGILE GENE

      American journal of medical genetics
    52. STEVENS M; VANDUIJN CM; KAMPHORST W; DEKNIJFF P; HEUTINK P; VANGOOL WA; SCHELTENS P; RAVID R; OOSTRA BA; NIERMEIJER MF; VANSWIETEN JC
      FAMILIAL AGGREGATION IN FRONTOTEMPORAL DEMENTIA

      Neurology
    53. HUTTON M; LENDON CL; RIZZU P; BAKER M; FROELICH S; HOULDEN H; PICKERINGBROWN S; CHAKRAVERTY S; ISAACS A; GROVER A; HACKETT J; ADAMSON J; LINCOLN S; DICKSON D; DAVIES P; PETERSEN RC; STEVENS M; DEGRAAFF E; WAUTERS E; VANBAREN J; HILLEBRAND M; JOOSSE M; KWON JM; NOWOTNY P; CHE LK; NORTON J; MORRIS JC; REED LA; TROJANOWSKI J; BASUN H; LANNFELT L; NEYSTAT M; FAHN S; DARK F; TANNENBERG T; DODD PR; HAYWARD N; KWOK JBJ; SCHOFIELD PR; ANDREADIS A; SNOWDEN J; CRAUFURD D; NEARY D; OWEN F; OOSTRA BA; HARDY J; GOATE A; VANSWIETEN J; MANN D; LYNCH T; HEUTINK P
      ASSOCIATION OF MISSENSE AND 5'-SPLICE-SITE MUTATIONS IN TAU WITH THE INHERITED DEMENTIA FTDP-17

      Nature
    54. DEVRIES BBA; HALLEY DJJ; OOSTRA BA; NIERMEIJER MF
      THE FRAGILE-X-SYNDROME

      Journal of Medical Genetics
    55. SLEGTENHORSTEEGDEMAN KE; DEROOIJ DG; VERHOEFPOST M; VANDEKANT HJG; BAKKER CE; OOSTRA BA; GROOTEGOED JA; THEMMEN APN
      MACROORCHIDISM IN FMR1 KNOCKOUT MICE IS CAUSED BY INCREASED SERTOLI-CELL PROLIFERATION DURING TESTICULAR DEVELOPMENT

      Endocrinology
    56. 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
    57. BONTEKOE CJM; DEGRAAFF E; NIEUWENHUIZEN IM; WILLEMSEN R; OOSTRA BA
      FMR1 PREMUTATION ALLELE (CGG)(81) IS STABLE IN MICE

      European journal of human genetics
    58. TAMANINI F; WILLEMSEN R; VANUNEN L; BONTEKOE C; GALJAARD H; OOSTRA BA; HOOGEVEEN AT
      DIFFERENTIAL EXPRESSION OF FMR1, FXR1 AND FXR2 PROTEINS IN HUMAN BRAIN AND TESTIS

      Human molecular genetics
    59. GECZ J; OOSTRA BA; HOCKEY A; CARBONELL P; TURNER G; HAAN EA; SUTHERLAND GR; MULLEY JC
      FMR2 EXPRESSION IN FAMILIES WITH FRAXE MENTAL-RETARDATION

      Human molecular genetics
    60. OOSTRA BA; HOOGEVEEN AT
      ANIMAL-MODEL FOR FRAGILE-X-SYNDROME

      Annals of medicine
    61. HEUTINK P; STEVENS M; RIZZU P; BAKKER E; KROS JM; TIBBEN A; NIERMEIJER MF; VANDUIJN CM; OOSTRA BA; VANSWIETEN JC
      HEREDITARY FRONTOTEMPORAL DEMENTIA IS LINKED TO CHROMOSOME-17Q21-Q22 - A GENETIC AND CLINICOPATHOLOGICAL STUDY OF 3 DUTCH FAMILIES

      Annals of neurology
    62. 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
    63. DHOOGE R; NAGELS G; FRANCK F; BAKKER CE; REYNIERS E; STORM K; KOOY RF; OOSTRA BA; WILLEMS PJ; DEDEYN PP
      MILDLY IMPAIRED WATER MAZE PERFORMANCE IN MALE FMR1 KNOCKOUT MICE

      Neuroscience
    64. HOOGEVEEN AT; OOSTRA BA
      THE FRAGILE-X-SYNDROME

      Journal of inherited metabolic disease
    65. STEVENS M; VANDUIJN CM; DEKNIJFF P; VANBROECKHOVEN C; HEUTINK P; OOSTRA BA; NIERMEIJER MF; VANSWIETEN JC
      APOLIPOPROTEIN-E GENE AND SPORADIC FRONTAL-LOBE DEMENTIA

      Neurology
    66. STEVENS M; VANDUIJN CM; OOSTRA BA; HEUTINK P; VANSWIETEN JC
      FAMILIAL AGGREGATION IN FRONTOTEMPORAL DEMENTIA

      Neurology
    67. 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
    68. LOSEKOOT M; HOOGENDOORN E; OLMER R; JANSEN CCAM; OOSTERWIJK JC; VANDENOUWELAND AMW; HALLEY DJJ; WARREN ST; WILLEMSEN R; OOSTRA BA; BAKKER E
      PRENATAL-DIAGNOSIS OF THE FRAGILE-X-SYNDROME - LOSS OF MUTATION OWINGTO A DOUBLE RECOMBINANT OR GENE CONVERSION EVENT AT THE FMR1 LOCUS

      Journal of Medical Genetics
    69. DADAMO P; GULISANO M; OOSTRA BA; CHELLY J; TONIOLO D
      GDI IS RESPONSIBLE FOR X-LINKED MENTAL-RETARDATION

      American journal of human genetics
    70. HOOGEVEEN AT; TAMANINI F; WILLEMSEN R; VANUNEN L; BONTEKOE CJM; GALJAARD H; OOSTRA BA
      FMR1, FXR1 AND FXR2 PROTEINS IN HUMAN BRAIN AND TESTIS

      American journal of human genetics
    71. DEVRIES BBA; VANDENOUWELAND AMW; MOHKAMSING S; DUIVENVOORDEN HJ; HALLEY DJJ; SANDKUIJL LA; OOSTRA BA; TIBBEN A; NIERMEIJER MF
      A FRAGILE-X SCREENING-PROGRAM IN THE NETHERLANDS - PREVALENCE OF FRAGILE-X-SYNDROME LOWER THAN PREVIOUSLY CONSIDERED, BUT THE DISORDER IS STILL UNDERDIAGNOSED

      American journal of human genetics
    72. CHIURAZZI P; POMPONI MG; WILLEMSEN R; OOSTRA BA; NERI G
      IN-VITRO REACTIVATION OF THE FRAGILE-X-SYNDROME GENE

      American journal of human genetics
    73. TASSONE F; HAGERMAN RJ; IKLE D; DYER PN; LAMPE M; WILLEMSEN R; OOSTRA BA; TAYLOR AK
      FMRP EXPRESSION AS A POTENTIAL PROGNOSTIC INDICATOR IN FRAGILE-X-SYNDROME

      American journal of human genetics
    74. 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
    75. 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
    76. REYNIERS E; VANBOCKSTAELE DR; DEBOULLE K; KOOY RF; BAKKER CE; OOSTRA BA; WILLEMS PJ
      MEAN CORPUSCULAR HEMOGLOBIN IS NOT INCREASED IN FMR1 KNOCKOUT MICE

      Human genetics
    77. 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
    78. 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
    79. 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
    80. OOSTRA BA; WILLEMSEN R; MANDEL JL; DEVRIES B; DEVYS D
      RAPID SCREENING-TEST FOR FRAGILE-X SYNDROME

      American journal of medical genetics
    81. DEVRIES BBA; WIEGERS AM; SMITS APT; FRYNS JP; CURFS LMG; VANOOST BA; HALLEY DJJ; OOSTRA BA; VANDENOUWELAND AMW; NIERMEIJER MF
      MENTAL STATUS AND FMR1 GENE MUTATION IN FEMALES

      American journal of medical genetics
    82. DEVRIES BBA; VANDENOUWELAND AMW; MOHKAMSING S; HALLEY DJJ; TIBBEN A; OOSTRA BA; GALJAARD H; NIERMEIJER MF
      ACCEPTANCE OF SCREENING FOR THE FRAGILE-X-SYNDROME AMONG 1878 MENTALLY-RETARDED INDIVIDUALS IN INSTITUTIONS AND SPECIAL-SCHOOLS IN THE NETHERLANDS

      American journal of medical genetics
    83. HAMEL BCJ; KREMER H; WESBYVANSWAAY E; VANDENHELM B; SMITS APT; OOSTRA BA; ROPERS HH; MARIMAN ECM
      A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION (MRX41) IS LOCATEDIN THE DISTAL SEGMENT OF XQ28

      American journal of medical genetics
    84. CHIURAZZI P; GENUARDI M; KOZAK L; GIOVANNUCCIUZIELLI ML; BUSSANI C; DAGNABRICARELLI F; GRASSO M; PERRONI L; SEBASTIO G; SPERANDEO MP; OOSTRA BA; NERI G
      FRAGILE-X FOUNDER CHROMOSOMES IN ITALY - A FEW INITIAL EVENTS AND POSSIBLE EXPLANATION FOR THEIR HETEROGENEITY

      American journal of medical genetics
    85. CHIURAZZI P; DESTROBISOL G; GENUARDI M; OOSTRA BA; SPEDINI G; NERI G
      EXTENDED GENE DIVERSITY AT TIRE FMR1 LOCUS AND NEIGHBORING CA REPEATSIN A SUB-SAHARAN POPULATION

      American journal of medical genetics
    86. WILLEMSEN R; OOSTERWIJK JC; LOS FJ; GALJAARD H; OOSTRA BA
      PRENATAL-DIAGNOSIS OF FRAGILE-X SYNDROME

      Lancet
    87. NEWPORT MJ; HUXLEY CM; HUSTON S; HAWRYLOWICZ CM; OOSTRA BA; WILLIAMSON R; LEVIN M
      A MUTATION IN THE INTERFERON-GAMMA-RECEPTOR GENE AND SUSCEPTIBILITY TO MYCOBACTERIAL INFECTION

      The New England journal of medicine
    88. BOSMA PJ; OOSTRA BA
      THE GENETIC-BASIS OF GILBERTS-SYNDROME - REPLY

      The New England journal of medicine
    89. SHIMIZU M; GELLIBOLIAN R; OOSTRA BA; WELLS RD
      CLONING, CHARACTERIZATION AND PROPERTIES OF PLASMIDS CONTAINING CGG TRIPLET REPEATS FROM THE FMR-1 GENE

      Journal of Molecular Biology
    90. 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
    91. HOYNG CB; HEUTINK P; TESTERS L; PINCKERS A; DEUTMAN AF; OOSTRA BA
      AUTOSOMAL-DOMINANT CENTRAL AREOLAR CHOROIDAL DYSTROPHY CAUSED BY A MUTATION IN CODON-142 IN THE PERIPHERIN RDS GENE/

      American journal of ophthalmology
    92. DEVRIES BBA; WIEGERS AM; SMITS APT; MOHKAMSING S; DUIVENVOORDEN HJ; FRYNS JP; CURFS LMG; HALLEY DJJ; OOSTRA BA; VANDENOUWELAND AMW; NIERMEIJER MF
      MENTAL STATUS OF FEMALES WITH AN FMR1 GENE FULL MUTATION

      American journal of human genetics
    93. HEUTINK P; VERMEIJKEERS C; OOSTRA BA
      THE GENETIC BACKGROUND OF CRANIOSYNOSTOSIS SYNDROMES

      European journal of human genetics
    94. VERHEIJ C; DEGRAAFF E; BAKKER CE; WILLEMSEN R; WILLEMS PJ; MEIJER N; GALJAARD H; REUSER AJJ; OOSTRA BA; HOOGEVEEN AT
      CHARACTERIZATION OF FMR1 PROTEINS ISOLATED FROM DIFFERENT TISSUES

      Human molecular genetics
    95. SMEETS HJM; SMITS APT; VERHEIJ CE; THEELEN JPG; WILLEMSEN R; VANDEBURGT I; HOOGEVEEN AT; OOSTERWIJK JC; OOSTRA BA
      NORMAL PHENOTYPE IN 2 BROTHERS WITH A FULL FMR1 MUTATION

      Human molecular genetics
    96. DEGRAAFF E; ROUILLARD P; WILLEMS PJ; SMITS APT; ROUSSEAU F; OOSTRA BA
      HOTSPOT FOR DELETIONS IN THE CGG REPEAT REGION OF FMR1 IN FRAGILE-X PATIENTS

      Human molecular genetics
    97. VANCAMP G; COUCKE P; SPELEMAN F; VANROY N; BEYER EC; OOSTRA BA; WILLEMS PJ
      THE GENE FOR HUMAN GAP JUNCTION PROTEIN CONNEXIN37 (GJA4) MAPS TO CHROMOSOME 1P35.1, IN THE VICINITY OF D1S195

      Genomics
    98. WILLEMS PJ; BAKKER CE; REYNIERS E; VERHEIJ C; DEBOULLE K; OOSTRA BA
      A TRANSGENIC MOUSE MODEL FOR FRAGILE-X SYNDROME

      Journal of cellular biochemistry
    99. HEUTINK P; ZGURICAS J; BREEDVELD GJ; TESTERS L; LINDHOUT D; HOVIUS SER; OOSTRA BA
      GENE FOR TRIPHALANGEAL THUMB MAPS TO CHROMOSOME 7Q36

      Cytogenetics and cell genetics
    100. OOSTRA BA; WILLEMS PJ
      A FRAGILE GENE

      BioEssays


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/06/20 alle ore 20:52:39