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La ricerca find articoli where soggetti phrase all words 'NORRIE DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 74 riferimenti
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    1. Hiraoka, M; Berinstein, DM; Trese, MT; Shastry, BS
      Insertion and deletion mutations in the dinucleotide repeat region of the Norrie disease gene in patients with advanced retinopathy of prematurity

      JOURNAL OF HUMAN GENETICS
    2. Hiraoka, M; Rossi, F; Trese, MT; Shastry, BS
      X-linked juvenile retinoschisis: mutations at the retinoschisis and Norriedisease gene loci?

      JOURNAL OF HUMAN GENETICS
    3. Haider, MZ; Devarajan, LV; Al-Essa, M; Srivastva, BS; Kumar, H; Azad, R; Rashwan, N
      Retinopathy of prematurity: Mutations in the Norrie disease gene and the risk of progression to advanced stages

      PEDIATRICS INTERNATIONAL
    4. Syagailo, YV; Stober, G; Grassle, M; Reimer, E; Knapp, M; Jungkunz, G; Okladnova, O; Meyer, J; Lesch, KP
      Association analysis of the functional monoamine oxidase a gene promoter polymorphism in psychiatric disorders

      AMERICAN JOURNAL OF MEDICAL GENETICS
    5. Yamada, K; Limprasert, P; Ratanasukon, M; Tengtrisorn, S; Yingchareonpukdee, J; Vasiknsenonte, P; Kitaoka, T; Ghadami, M; Niikawa, N; Kishino, T
      Two Thai families with Norrie disease (ND): Association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier

      AMERICAN JOURNAL OF MEDICAL GENETICS
    6. Wecker, L; Pacheco, MA
      A neurochemical perspective on monoamine oxidase inhibitors

      PSYCHIATRIC ANNALS
    7. Berinstein, DM; Hiraoka, M; Trese, MT; Shastry, BS
      Coats' disease and congenital retinoschisis in a single eye: A case reportand DNA analysis

      OPHTHALMOLOGICA
    8. Darling, RJ; Wilken, JA; Ruddon, RW; Bedows, E
      Intracellular folding pathway of the cystine knot-containing glycoprotein hormone alpha-subunit

      BIOCHEMISTRY
    9. Downey, LM; Keen, TJ; Roberts, E; Mansfield, DC; Bamashmus, M; Inglehearn, CF
      A new locus for autosomal dominant familial exudative vitreoretinopathy maps to chromosome 11p12-13

      AMERICAN JOURNAL OF HUMAN GENETICS
    10. Tseng, CJ; Lalwani, AK
      Cracking the auditory genetic code: Part II. Syndromic hereditary hearing impairment

      AMERICAN JOURNAL OF OTOLOGY
    11. Hardcastle, AJ; Thiselton, DL; Zito, I; Ebenezer, N; Mah, TS; Gorin, MB; Bhattacharya, SS
      Evidence for a new locus for X-linked retinitis pigmentosa (RP23)

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    12. Shastry, BS; Trese, MT
      Evaluation of the Norrie disease gene in a family with Incontinentia pigmenti

      OPHTHALMIC RESEARCH
    13. Jonsson, EG; Norton, N; Gustavsson, JF; Oreland, L; Owen, MJ; Sedvall, GC
      A promoter polymorphism in the monoamine oxidase A gene and its relationships to monoamine metabolite concentrations in CSF of healthy volunteers

      JOURNAL OF PSYCHIATRIC RESEARCH
    14. Katsumi, A; Tuley, EA; Bodo, I; Sadler, JE
      Localization of disulfide bonds in the cystine knot domain of human von Willebrand factor

      JOURNAL OF BIOLOGICAL CHEMISTRY
    15. Shastry, BS; Hiraoka, M; Trese, MT
      Lack of association of the Norrie disease gene with retinoschisis phenotype

      JAPANESE JOURNAL OF OPHTHALMOLOGY
    16. Shastry, BS; Hiraoka, M; Trese, DC; Trese, MT
      Norrie disease and exudative vitreoretinopathy in families with affected female carriers

      EUROPEAN JOURNAL OF OPHTHALMOLOGY
    17. Schroer, A; Schneider, S; Ropers, HH; Nothwang, HG
      Cloning and characterization of UXT, a novel gene in human Xp11, which is widely and abundantly expressed in tumor tissue

      GENOMICS
    18. Kenyon, JR; Craig, IW
      Analysis of the 5 ' regulatory region of the human Norrie's disease gene: evidence that a non-translated CT dinucleotide repeat in exon one has a role in controlling expression

      GENE
    19. Denney, RM; Koch, H; Craig, IW
      Association between monoamine oxidase A activity in human male shin fibroblasts and genotype of the MAOA promoter-associated variable number tandem repeat

      HUMAN GENETICS
    20. Welge-Lussen, U; Wilsch, C; Neuhardt, T; Streilein, JW; Lutjen-Drecoll, E
      Loss of anterior chamber-associated immune deviation (ACAID) in aged retinal degeneration (rd) mice

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    21. Pearce, JJH; Penny, G; Rossant, J
      A mouse cerberus/Dan-related gene family

      DEVELOPMENTAL BIOLOGY
    22. Black, GCM; Boulton, ME; Bishop, PN; McLeod, D
      Ophthalmology in the post-genomic era

      BRITISH JOURNAL OF OPHTHALMOLOGY
    23. Karayiorgou, M; Sobin, C; Blundell, ML; Galke, BL; Malinova, L; Goldberg, P; Ott, J; Gogos, JA
      Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder

      BIOLOGICAL PSYCHIATRY
    24. Shih, JC; Thompson, RF
      Monoamine oxidase in neuropsychiatry and behavior

      AMERICAN JOURNAL OF HUMAN GENETICS
    25. ZAREMBA J; FEIL S; JUSZKO J; MYGA W; VANDUIJNHOVEN G; BERGER W
      INTRAFAMILIAL VARIABILITY OF THE OCULAR PHENOTYPE IN A POLISH FAMILY WITH A MISSENSE MUTATION (A63D) IN THE NORRIE-DISEASE GENE

      Ophthalmic genetics
    26. Stanley, E; Biben, C; Kotecha, S; Fabri, L; Tajbakhsh, S; Wang, CC; Hatzistavrou, T; Roberts, B; Drinkwater, C; Lah, M; Buckingham, M; Hilton, D; Nash, A; Mohun, T; Harvey, RP
      DAN is a secreted glycoprotein related to Xenopus cerberus

      MECHANISMS OF DEVELOPMENT
    27. SABOL SZ; HU S; HAMER D
      A FUNCTIONAL POLYMORPHISM IN THE MONOAMINE-OXIDASE-A GENE PROMOTER

      Human genetics
    28. DENNEY RM
      RELATIONSHIP BETWEEN MONOAMINE-OXIDASE (MAO)-A SPECIFIC ACTIVITY AND PROPORTION OF HUMAN SKIN FIBROBLASTS WHICH EXPRESS THE ENZYME IN CULTURE

      Journal of neural transmission. Supplementum
    29. MURPHY DL; SIMS K; EISENHOFER G; GREENBERG BD; GEORGE T; BERLIN F; ZAMETKIN A; ERNST M; BREAKEFIELD XO
      ARE MAO-A DEFICIENCY STATES IN THE GENERAL-POPULATION AND IN PUTATIVEHIGH-RISK POPULATIONS HIGHLY UNCOMMON

      Journal of neural transmission. Supplementum
    30. MURPHY DL; KAROUM F; PICKAR D; COHEN RM; LIPPER S; MELLOW AM; TARIOT PN; SUNDERLAND T
      DIFFERENTIAL TRACE AMINE ALTERATIONS IN INDIVIDUALS RECEIVING ACETYLENIC INHIBITORS OF MAO-A (CLORGYLINE) OR MAO-B (SELEGILINE AND PARGYLINE)

      Journal of neural transmission. Supplementum
    31. PEREZVILAR J; HILL RL
      THE CARBOXYL-TERMINAL-90 RESIDUES OF PORCINE SUBMAXILLARY MUCIN ARE SUFFICIENT FOR FORMING DISULFIDE-BONDED DIMERS

      The Journal of biological chemistry
    32. BELL SL; KHATRI IA; XU GQ; FORSTNER JF
      EVIDENCE THAT A PEPTIDE CORRESPONDING TO THE RAT MUC2 C-TERMINUS UNDERGOES DISULFIDE-MEDIATED DIMERIZATION

      European journal of biochemistry
    33. Berger, W
      Molecular dissection of Norrie disease

      ACTA ANATOMICA
    34. SCHROEDER B; HESSE L; BRUCK W; GAL A
      HISTOPATHOLOGICAL AND IMMUNOHISTOCHEMICAL FINDINGS ASSOCIATED WITH A NULL MUTATION IN THE NORRIE-DISEASE GENE

      Ophthalmic genetics
    35. GRIMSBY J; TOTH M; CHEN K; KUMAZAWA T; KLAIDMAN L; ADAMS JD; KAROUM F; GAL J; SHIH JC
      INCREASED STRESS-RESPONSE AND P-PHENYLETHYLAMINE IN MAOB-DEFICIENT MICE

      Nature genetics
    36. ALLIKMETS R; SINGH N; SUN H; SHROYER NE; HUTCHINSON A; CHIDAMBARAM A; GERRARD B; BAIRD L; STAUFFER D; PEIFFER A; RATTNER A; SMALLWOOD P; LI YX; ANDERSON KL; LEWIS RA; NATHANS J; LEPPERT M; DEAN M; LUPSKI JR
      A PHOTORECEPTOR CELL-SPECIFIC ATP-BINDING TRANSPORTER GENE (ABCR) IS MUTATED IN RECESSIVE STARGARDT MACULAR DYSTROPHY

      Nature genetics
    37. SHASTRY BS; HEJTMANCIK JF; TRESE MT
      IDENTIFICATION OF NOVEL MISSENSE MUTATIONS IN NORRIE-DISEASE GENE ASSOCIATED WITH ONE X-LINKED AND 4 SPORADIC CASES OF FAMILIAL EXUDATIVE VITREORETINOPATHY

      Human mutation
    38. REHM HL; GUTIERREZESPELETA GA; GARCIA R; JIMENEZ G; KHETARPAL U; PRIEST JM; SIMS KB; KEATS BJB; MORTON CC
      NORRIE-DISEASE GENE MUTATION IN A LARGE COSTA-RICAN KINDRED WITH A NOVEL PHENOTYPE INCLUDING VENOUS INSUFFICIENCY

      Human mutation
    39. WALKER JL; DIXON J; FENTON CR; HUNGERFORD J; LYNCH SA; STENHOUSES SAR; CHRISTIAN A; CRAIG IW
      2 NEW MUTATIONS IN EXON-3 OF THE NDP GENE - S73X AND S101F ASSOCIATEDWITH SEVERE AND LESS SEVERE OCULAR PHENOTYPE, RESPECTIVELY

      Human mutation
    40. SHASTRY BS; LIU XY; HEJTMANCIK JF; PLAGER DA; TRESE MT
      EVIDENCE FOR GENETIC-HETEROGENEITY IN X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY

      Genomics
    41. PENDERGAST SD; TRESE MT; SHASTRY BS
      OCULAR FINDINGS IN CUTIS MARMORATA TELANGIECTATICA CONGENITA - BILATERAL EXUDATIVE VITREORETINOPATHY

      Retina
    42. RUETHER K; VANDEPOL D; JAISSLE G; BERGER W; TORNOW RP; ZRENNER E
      RETINOSCHISISLIKE ALTERATIONS IN THE MOUSE EYE CAUSED BY GENE TARGETING OF THE NORRIE DISEASE GENE

      Investigative ophthalmology & visual science
    43. ROPERS HH
      MOLECULAR ELUCIDATION OF HEREDITARY EYE DISEASES - PIVOTAL ROLE OF THE CLINICIAN

      Ophthalmic research
    44. GOLDBERG MF
      PERSISTENT FETAL VASCULATURE (PFV) - AN INTEGRATED INTERPRETATION OF SIGNS AND SYMPTOMS ASSOCIATED WITH PERSISTENT HYPERPLASTIC PRIMARY VITREOUS (PHPV) LIV EDWARD-JACKSON-MEMORIAL-LECTURE

      American journal of ophthalmology
    45. CABALLERO M; VESKE A; RODRIGUEZ JJ; LUGO N; SCHROEDER B; HESSE L; GAL A
      2 NOVEL MUTATIONS IN THE NORRIE DISEASE GENE ASSOCIATED WITH THE CLASSICAL OCULAR PHENOTYPE

      Ophthalmic genetics
    46. KELLNER U; FUCHS S; BORNFELD N; FOERSTER MH; GAL A
      OCULAR PHENOTYPES ASSOCIATED WITH 2 MUTATIONS (R121W, C126X) IN THE NORRIE-DISEASE GENE

      Ophthalmic genetics
    47. ROEPMAN R; VANDUIJNHOVEN G; ROSENBERG T; PINCKERS AJLG; BLEEKERWAGEMAKERS LM; BERGEN AAB; POST J; BECK A; REINHARDT R; ROPERS HH; CREMERS FPM; BERGER W
      POSITIONAL CLONING OF THE GENE FOR X-LINKED RETINITIS-PIGMENTOSA-3 - HOMOLOGY WITH THE GUANINE-NUCLEOTIDE-EXCHANGE FACTOR RCC1

      Human molecular genetics
    48. FELDMAN EJ
      THE RECOGNITION AND INVESTIGATION OF X-LINKED LEARNING-DISABILITY SYNDROMES

      JIDR. Journal of intellectual disability research
    49. KREMER H; HAMEL BCJ; VANDENHELM B; ARTS WFM; DEWIJS IJ; SISTERMANS EA; ROPERS HH; MARIMAN ECM
      LOCALIZATION OF THE GENE (OR GENES) FOR A SYNDROME WITH X-LINKED MENTAL-RETARDATION, ATAXIA, WEAKNESS, HEARING IMPAIRMENT, LOSS OF VISION AND A FATAL COURSE IN EARLY-CHILDHOOD

      Human genetics
    50. TIVOL EA; SHALISH C; SCHUBACK DE; HSU YP; BREAKEFIELD XO
      MUTATIONAL ANALYSIS OF THE HUMAN MAOA GENE

      American journal of medical genetics
    51. GRIMSBY J; ZENTNER M; SHIH JC
      IDENTIFICATION OF A REGION IMPORTANT FOR HUMAN MONOAMINE-OXIDASE-B SUBSTRATE AND INHIBITOR SELECTIVITY

      Life sciences
    52. LENDERS JWM; EISENHOFER G; ABELING NGGM; BERGER W; MURPHY DL; KONINGS CH; WAGEMAKERS LMB; KOPIN IJ; KAROUM F; VANGENNIP AH; BRUNNER HG
      SPECIFIC GENETIC DEFICIENCIES OF THE A-ISOENZYME AND B-ISOENZYME OF MONOAMINE-OXIDASE ARE CHARACTERIZED BY DISTINCT NEUROCHEMICAL AND CLINICAL PHENOTYPES

      The Journal of clinical investigation
    53. UEHARA F; SAMESHIMA M; YANAGITA T; IWAKIRI N; OHBA N
      LECTIN-HISTOCHEMICAL STUDY OF O-LINKED GLYCOCONJUGATES IN DYSPLASTIC RETINA OF NORRIE DISEASE

      Japanese Journal of Ophthalmology
    54. MISLOW K; LIANG CZ
      KNOTTED STRUCTURES IN CHEMISTRY, BIOCHEMISTRY, AND MOLECULAR-BIOLOGY

      Croatica chemica acta
    55. JOHNSON K; MINTZHITTNER HA; CONLEY YP; FERRELL RE
      X-LINKED EXUDATIVE VITREORETINOPATHY CAUSED BY AN ARGININE TO LEUCINESUBSTITUTION (R121L) IN THE NORRIE DISEASE PROTEIN

      Clinical genetics
    56. JANDECK C; KELLNER U; KOSSEL H; BARTSCH M; VERSMOLD HT; FOERSTER MH
      RETINOPATHY OF PREMATURITY IN INFANTS OF BIRTH-WEIGHT GREATER-THAN-2000G AFTER HEMORRHAGIC-SHOCK AT BIRTH

      British journal of ophthalmology
    57. SCHUBACK DE; CHEN ZY; CRAIG IW; BREAKEFIELD XO; SIMS KB
      MUTATIONS IN THE NORRIE DISEASE GENE

      Human mutation
    58. SHASTRY BS; HEJTMANCIK JF; PLAGER DA; HARTZER MK; TRESE MT
      LINKAGE AND CANDIDATE GENE ANALYSIS OF X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY

      Genomics
    59. BERGER W; VANDUIJNHOVEN G; PINCKERS A; SMITS A; ROPERS HH; CREMERS F
      LINKAGE ANALYSIS IN A DUTCH FAMILY WITH X-LINKED RECESSIVE CONGENITALSTATIONARY NIGHT BLINDNESS (XL-CSNB)

      Human genetics
    60. WHITAKERAZMITIA PM; DRUSE M; WALKER P; LAUDER JM
      SEROTONIN AS A DEVELOPMENTAL SIGNAL

      Behavioural brain research
    61. LIM LCC; POWELL J; SHAM P; CASTLE D; HUNT N; MURRAY R; GILL M
      EVIDENCE FOR A GENETIC ASSOCIATION BETWEEN ALLELES OF MONOAMINE-OXIDASE A GENE AND BIPOLAR AFFECTIVE-DISORDER

      American journal of medical genetics
    62. EISENHOFER G; FRIBERG P; PACAK K; GOLDSTEIN DS; MURPHY DL; TSIGOS C; QUYYUMI AA; BRUNNER HG; LENDERS JWM
      PLASMA METADRENALINES - DO THEY PROVIDE USEFUL INFORMATION ABOUT SYMPATHOADRENAL FUNCTION AND CATECHOLAMINE METABOLISM

      Clinical science
    63. SELLER MJ; PAL K; HORSLEY S; DAVIES AF; BERRY AC; MEREDITH R; MCCARTNEY ACE
      A FETUS WITH AN X-1 BALANCED RECIPROCAL TRANSLOCATION AND EYE DISEASE

      Journal of Medical Genetics
    64. ANDERSEN JK; FRIM DM; ISACSON O; BREAKEFIELD XO
      CATECHOLAMINERGIC CELL ATROPHY IN A TRANSGENIC MOUSE ABERRANTLY OVEREXPRESSING MAO-B IN NEURONS

      Neurodegeneration
    65. WHITAKERAZMITIA PM; ZHANG XN; CLARKE C
      EFFECTS OF GESTATIONAL EXPOSURE TO MONOAMINE-OXIDASE INHIBITORS IN RATS - PRELIMINARY BEHAVIORAL AND NEUROCHEMICAL STUDIES

      Neuropsychopharmacology
    66. HOTAMISLIGIL GS; GIRMEN AS; FINK JS; TIVOL E; SHALISH C; TROFATTER J; BAENZIGER J; DIAMOND S; MARKHAM C; SULLIVAN J; GROWDON J; BREAKEFIELD XO
      HEREDITARY VARIATIONS IN MONOAMINE-OXIDASE AS A RISK FACTOR FOR PARKINSONS-DISEASE

      Movement disorders
    67. HOLFORD NHG; GUENTERT TW; DINGEMANSE J; BANKEN L
      MONOAMINE OXIDASE-A - PHARMACODYNAMICS IN HUMANS OF MOCLOBEMIDE, A REVERSIBLE AND SELECTIVE INHIBITOR

      British journal of clinical pharmacology
    68. NERI G; CHIURAZZI P; ARENA JF; LUBS HA
      XLMR GENES - UPDATE 1994

      American journal of medical genetics
    69. DENNEY RM; SHARMA A; DAVE SK; WAGUESPACK A
      A NEW LOOK AT THE PROMOTER OF THE HUMAN MONOAMINE-OXIDASE-A GENE - MAPPING TRANSCRIPTION INITIATION SITES AND CAPACITY TO DRIVE LUCIFERASE EXPRESSION

      Journal of neurochemistry
    70. CHEN ZY; BATTINELLI EM; WOODRUFF G; YOUNG I; BREAKEFIELD XO; CRAIG IW
      CHARACTERIZATION OF A MUTATION WITHIN THE NDP GENE IN A FAMILY WITH AMANIFESTING FEMALE CARRIER

      Human molecular genetics
    71. SCHLESSINGER D; MANDEL JL; MONACO AP; NELSON DL; WILLARD HF
      REPORT OF THE 4TH INTERNATIONAL WORKSHOP ON HUMAN X-CHROMOSOME MAPPING 1993 - HELD ON MAY 9-12, 1993 ST-LOUIS, MISSOURI, USA

      Cytogenetics and cell genetics
    72. BRUNNER HG; NELEN M; BREAKEFIELD XO; ROPERS HH; VANOOST BA
      ABNORMAL-BEHAVIOR ASSOCIATED WITH A POINT MUTATION IN THE STRUCTURAL GENE FOR MONOAMINE OXIDASE-A

      Science
    73. BORK P
      THE MODULAR ARCHITECTURE OF A NEW FAMILY OF GROWTH-REGULATORS RELATEDTO CONNECTIVE-TISSUE GROWTH-FACTOR

      FEBS letters
    74. BRUNNER HG; NELEN MR; VANZANDVOORT P; ABELING NGGM; VANGENNIP AH; WOLTERS EC; KUIPER MA; ROPERS HH; VANOOST BA
      X-LINKED BORDERLINE MENTAL-RETARDATION WITH PROMINENT BEHAVIORAL DISTURBANCE - PHENOTYPE, GENETIC LOCALIZATION, AND EVIDENCE FOR DISTURBED MONOAMINE METABOLISM

      American journal of human genetics


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Documento generato il 22/01/21 alle ore 21:25:07