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    1. Thompson, DA; McHenry, CL; Li, Y; Richards, JE; Othman, MI; Schwinger, E; Vollrath, D; Jacobson, SG; Gal, A
      Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome2, with homoallelism for mutations in RPE65 or MERTK, respectively

      AMERICAN JOURNAL OF HUMAN GENETICS
    2. Petit, C
      Usher syndrome: From genetics to pathogenesis

      ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS
    3. Gerna, G; Piccinini, G; Genini, E; Percivalle, E; Zavattoni, M; Lilleri, D; Testa, L; Comolli, G; Maserati, T; Baldanti, F; Maccario, R; Monforte, AD; Revello, MG
      Declining levels of rescued lymphoproliferative response to human cytomegalovirus (HCMV) in AIDS patients with or without HCMV disease following long-term HAART

      JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES
    4. Para, MF; Kalish, LA; Collier, AC; Pollard, RB; Kumar, PN; Mintz, L; Wallach, FR; Drew, WL
      Qualitative and quantitative PCR measures of cytomegalovirus in patients with advanced HIV infection who require transfusions

      JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES
    5. Girardi, E; Palmieri, F; Cingolani, A; Ammassari, A; Petrosillo, N; Gillini, L; Zinzi, D; De Luca, A; Antinori, A; Ippolito, G
      Changing clinical presentation and survival in HIV-associated tuberculosisafter highly active antiretroviral therapy

      JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES
    6. Liang, FQ; Aleman, TS; Dejneka, NS; Dudus, L; Fisher, KJ; Maguire, AM; Jacobson, SG; Bennett, J
      Long-term protection of retinal structure but not function using RAAV.CNTFin animal models of retinitis pigmentosa

      MOLECULAR THERAPY
    7. Green, ES; Rendahl, KG; Zhou, SZ; Ladner, M; Coyne, M; Srivastava, R; Manning, WC; Flannery, JG
      Two animal models of retinal degeneration are rescued by recombinant adeno-associated virus-mediated production of FGF-5 and FGF-18

      MOLECULAR THERAPY
    8. Liang, FQ; Dejneka, NS; Cohen, DR; Krasnoperova, NV; Lem, J; Maguire, AM; Dudus, L; Fisher, KJ; Bennett, J
      AAV-mediated delivery of ciliary neurotrophic factor prolongs photoreceptor survival in the rhodopsin knockout mouse

      MOLECULAR THERAPY
    9. Kumar, MT; Pandit, JK; Balasubramaniam, J
      Novel therapeutic approaches for uveitis and retinitis

      JOURNAL OF PHARMACY AND PHARMACEUTICAL SCIENCES
    10. Chapple, JP; Grayson, C; Hardcastle, AJ; Saliba, RS; van der Spuy, J; Cheetham, ME
      Unfolding retinal dystrophies: a role for molecular chaperones?

      TRENDS IN MOLECULAR MEDICINE
    11. Baehr, W; Chen, CK
      RP11 and RP13: unexpected gene loci

      TRENDS IN MOLECULAR MEDICINE
    12. Lightman, S
      Uveitis: what do we know and how does it help?

      CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
    13. Hiraoka, M; Trese, MT; Shastry, BS
      Evaluation of RP2 and RP3 genes in an X-linked RP family manifesting loss of central vision and preserved peripheral function

      JOURNAL OF HUMAN GENETICS
    14. Eksandh, L; Ekstrom, U; Abrahamson, M; Bauer, B; Andreasson, S
      Different clinical expressions in two families with Stargardt's macular dystrophy (STGD1)

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    15. Gjorloff, K; Bruun, A; Ghosh, R
      Cone photoreceptors in laminated retinal transplants

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    16. Ba, BB; Saux, MC
      Separation methods for antiviral phosphorus-containing drugs

      JOURNAL OF CHROMATOGRAPHY B
    17. Price, P; Mathiot, N; Krueger, R; Stone, S; Keane, NM; French, MA
      Immune dysfunction and immune restoration disease in HIV patients given highly active antiretroviral therapy

      JOURNAL OF CLINICAL VIROLOGY
    18. Emery, VC
      Progress in understanding cytomegalovirus drug resistance

      JOURNAL OF CLINICAL VIROLOGY
    19. Scully, C; Dios, PD
      Orofacial effects of antiretroviral therapies

      ORAL DISEASES
    20. Lund, RD; Kwan, ASL; Keegan, DJ; Sauve, Y; Coffey, PJ; Lawrence, JM
      Cell transplantation as a treatment for retinal disease

      PROGRESS IN RETINAL AND EYE RESEARCH
    21. Mohand-Said, S; Hicks, D; Leveillard, T; Picaud, S; Porto, F; Sahel, JA
      Rod-cone interactions: Developmental and clinical significance

      PROGRESS IN RETINAL AND EYE RESEARCH
    22. Takashima, H; Boerkoel, CF; Lupski, JR
      Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy

      GENETICS IN MEDICINE
    23. Karakousis, PC; John, SK; Behling, KC; Surace, EM; Smith, JE; Hendrickson, A; Tang, WX; Bennett, J; Milam, AH
      Localization of pigment epithelium derived factor (PEDF) in developing andadult human ocular tissues

      MOLECULAR VISION
    24. Wu, J; Trogadis, J; Bremner, R
      Rod and cone degeneration in the rd mouse is p53 independent

      MOLECULAR VISION
    25. Hartman, SJ; Menon, I; Haug-Collet, K; Colley, NJ
      Expression of rhodopsin and arrestin during the light-dark cycle in Drosophila

      MOLECULAR VISION
    26. Rescigno, R; Dinowitz, M
      Ophthalmic manifestations of immunodeficiency states

      CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
    27. Piccinini, G; Comolli, G; Genini, E; Lilleri, D; Gulminetti, R; Maccario, R; Revello, MG; Gerna, G
      Comparative analysis of human cytomegalovirus-specific CD4(+) T-cell frequency and lymphoproliferative response in human immunodeficiency virus-positive patients

      CLINICAL AND DIAGNOSTIC LABORATORY IMMUNOLOGY
    28. McSharry, JJ; McDonough, A; Olson, B; Talarico, C; Davis, M; Biron, KK
      Inhibition of ganciclovir-susceptible and -resistant human cytomegalovirusclinical isolates by the benzimidazole L-riboside 1263W94

      CLINICAL AND DIAGNOSTIC LABORATORY IMMUNOLOGY
    29. Hooks, JJ; Tso, MOM; Detrick, B
      Retinopathies associated with antiretinal antibodies

      CLINICAL AND DIAGNOSTIC LABORATORY IMMUNOLOGY
    30. Rivolta, C; Berson, EL; Dryja, TP
      Dominant Leber congenital amaurosis, cone-rod degeneration, and retinitis pigmentosa caused by mutant versions of the transcription factor CRX

      HUMAN MUTATION
    31. Miano, MG; Testa, F; Filippini, F; Trujillo, M; Conte, I; Lanzara, C; Millan, JM; De Bernardo, C; Grammatico, B; Mangino, M; Torrente, I; Carrozzo, R; Simonelli, F; Rinaldi, E; Ventruto, V; D'Urso, M; Ayuso, C; Ciccodicola, A
      Identification of novel RP2 mutations in a subset of X-linked Retinitis Pigmentosa families and prediction of new domains

      HUMAN MUTATION
    32. Paloma, E; Martinez-Mir, A; Vilageliu, L; Gonzalez-Duarte, R; Balcells, S
      Spectrum ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies

      HUMAN MUTATION
    33. Sohocki, MM; Daiger, SP; Bowne, SJ; Rodriguez, JA; Northrup, H; Heckenlively, JR; Birch, DG; Mintz-Hittner, H; Ruiz, RS; Lewis, RA; Saperstein, DA; Sullivan, LS
      Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies

      HUMAN MUTATION
    34. Moritz, OL; Tam, BM; Hurd, LL; Peranen, J; Deretic, D; Papermaster, DS
      Mutant rab8 impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods

      MOLECULAR BIOLOGY OF THE CELL
    35. Li, L
      Zebrafish mutants: Behavioral genetic studies of visual system defects

      DEVELOPMENTAL DYNAMICS
    36. Seo, SK; Regan, A; Cihlar, T; Lin, DC; Boulad, F; George, D; Prasad, VK; Kiehn, TE; Polsky, B
      Cytomegalovirus ventriculoencephalitis in a bone marrow transplant recipient receiving antiviral maintenance: Clinical and molecular evidence of drugresistance

      CLINICAL INFECTIOUS DISEASES
    37. Fidouh-Houhou, N; Duval, X; Bissuel, F; Bourbonneux, V; Flandre, P; Ecobichon, JL; Jordn, MC; Vilde, JL; Brun-Vezinet, F; Leport, C
      Salivary cytomegalovirus (CMV) shedding, glycoprotein B genotype distribution, and CMV disease in human immunodeficiency virus-seropositive patients

      CLINICAL INFECTIOUS DISEASES
    38. Kilby, JM
      Human immunodeficiency virus pathogenesis: Insights from studies of lymphoid cells and tissues

      CLINICAL INFECTIOUS DISEASES
    39. Goldstein, DA; Mouritsen, L; Friedlander, S; Tessler, HH; Edward, DP
      Acute endogenous endophthalmitis due to Bartonella henselae

      CLINICAL INFECTIOUS DISEASES
    40. Yoshida, A; Hitomi, S; Fukui, T; Endo, H; Morisawa, Y; Kazuyama, Y; Osumi, K; Oka, S; Kimura, S
      Diagnosis and monitoring of human cytomegalovirus diseases in patients with human immunodeficiency virus infection by use of a real-time PCR assay

      CLINICAL INFECTIOUS DISEASES
    41. Ormerod, LD; Puklin, JE; Sobel, JD
      Syphilitic posterior uveitis: Correlative findings and significance

      CLINICAL INFECTIOUS DISEASES
    42. Jomary, C; Neal, MJ; Jones, SE
      Characterization of cell death pathways in murine retinal neurodegeneration implicates cytochrome c release, caspase activation, and bid cleavage

      MOLECULAR AND CELLULAR NEUROSCIENCE
    43. Soong, GP; Lovie-Kitchin, JE; Brown, B
      Does mobility performance of visually impaired adults improve immediately after orientation and mobility training?

      OPTOMETRY AND VISION SCIENCE
    44. Turano, KA; Geruschat, DR; Baker, FH; Stahl, JW; Shapiro, MD
      Direction of gaze while walking a simple route: Persons with normal visionand persons with retinitis pigmentosa

      OPTOMETRY AND VISION SCIENCE
    45. Haymes, SA; Johnston, AW; Heyes, AD
      A weighted version of the Melbourne low-vision ADL index: A measure of disability impact

      OPTOMETRY AND VISION SCIENCE
    46. Peli, E
      Vision multiplexing: an engineering approach to vision rehabilitation device development

      OPTOMETRY AND VISION SCIENCE
    47. Gerber, S; Perrault, I; Hanein, S; Barbet, F; Ducroq, D; Ghazi, I; Martin-Coignard, D; Leowski, C; Homfray, T; Dufier, JL; Munnich, A; Kaplan, J; Rozet, JM
      Complete exon-intron structure of the RPGR-interacting protein (RPGRIP1) gene allows the identification of mutations underlying Leber congenital amaurosis

      EUROPEAN JOURNAL OF HUMAN GENETICS
    48. Nicolazzi, C; Abdou, S; Collomb, J; Marsura, A; Finance, C
      Effect of the complexation with cyclodextrins on the in vitro antiviral activity of ganciclovir against human cytomegalovirus

      BIOORGANIC & MEDICINAL CHEMISTRY
    49. Shroyer, NF; Lewis, RA; Yatsenko, AN; Wensel, TG; Lupski, JR
      Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration

      HUMAN MOLECULAR GENETICS
    50. Clarke, G; Lumsden, CJ; McInnes, RR
      Inherited neurodegenerative diseases: the one-hit model of neurodegeneration

      HUMAN MOLECULAR GENETICS
    51. Stone, EM; Sheffield, VC; Hageman, GS
      Molecular genetics of age-related macular degeneration

      HUMAN MOLECULAR GENETICS
    52. Toomes, C; Marchbank, NJ; Mackey, DA; Craig, JE; Newbury-Ecob, RA; Bennett, CP; Vize, CJ; Desai, SP; Black, GCM; Patel, N; Teimory, M; Markham, AF; Inglehearn, CF; Churchill, AJ
      Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

      HUMAN MOLECULAR GENETICS
    53. Ikeda, A; Ikeda, S; Gridley, T; Nishina, PM; Naggert, JK
      Neural tube defects and neuroepithelial cell death in Tulp3 knockout mice

      HUMAN MOLECULAR GENETICS
    54. Schwahn, U; Paland, N; Techritz, S; Lenzner, S; Berger, W
      Mutations in the X-linked RP2 gene cause intracellular misrouting and lossof the protein

      HUMAN MOLECULAR GENETICS
    55. Verdugo, ME; Alling, J; Lazar, ES; del Cerro, M; Ray, J; Aguirre, G
      Posterior segment approach for subretinal transplantation or injection in the canine model

      CELL TRANSPLANTATION
    56. Gordo, MA; Recio, M; Sanchez-Barcelo, EJ
      Decreased sleep quality in patients suffering from retinitis pigmentosa

      JOURNAL OF SLEEP RESEARCH
    57. Jun, L; Frints, S; Duhamel, H; Herold, A; Abad-Rodrigues, J; Dotti, C; Izaurralde, E; Marynen, P; Froyen, G
      NXF5, a novel member of the nuclear RNA export factor family, is lost in amale patient with a syndromic form of mental retardation

      CURRENT BIOLOGY
    58. Slater, MJ; Baxter, R; Bonser, RW; Cockerill, S; Gohil, K; Parry, N; Robinson, E; Randall, R; Yeates, C; Snowden, W; Walters, A
      Synthesis of N-alkyl substituted indolocarbazoles as potent inhibitors of human cytomegalovirus replication

      BIOORGANIC & MEDICINAL CHEMISTRY LETTERS
    59. Liang, FQ; Aleman, TS; Yang, ZX; Cideciyan, AV; Jacobson, SG; Bennett, J
      Melatonin delays photoreceptor degeneration in the rds/rds mouse

      NEUROREPORT
    60. Goldsmith, P
      Modelling eye diseases in zebrafish

      NEUROREPORT
    61. Bessant, DAR; Ali, RR; Bhattacharya, SS
      Molecular genetics and prospects for therapy of the inherited retinal dystrophies

      CURRENT OPINION IN GENETICS & DEVELOPMENT
    62. Borges, LHB; Boas, LSV; Warren-Santoro, SH; Estevam, MP; Uip, DE; Savalli, C; Curi, M; Pannuti, CS
      Effect of highly active antiretroviral therapy on cytomegalovirus antigenaemia in AIDS patients

      INTERNATIONAL JOURNAL OF STD & AIDS
    63. Skiest, DJ; Chiller, T; Chiller, K; Park, A; Keiser, P
      Protease inhibitor therapy is associated with markedly prolonged time to relapse and improved survival in AIDS patients with cytomegalovirus retinitis

      INTERNATIONAL JOURNAL OF STD & AIDS
    64. Kremers, J; Scholl, HPN
      Rod-/L-cone and rod-/M-cone interactions in electroretinograms at different temporal frequencies

      VISUAL NEUROSCIENCE
    65. Humphries, MM; Kiang, S; McNally, N; Donovan, MA; Sieving, P; Bush, RA; Machida, S; Cotter, T; Hobson, A; Farrar, J; Humphries, P; Kenna, P
      Comparative structural and functional analysis of photoreceptor neurons ofRho-/- mice reveal increased survival on C57BL/6J in comparison to 129Sv genetic background

      VISUAL NEUROSCIENCE
    66. Jamison, JA; Bush, RA; Lei, B; Sieving, PA
      Characterization of the rod photoresponse isolated from the dark-adapted primate ERG

      VISUAL NEUROSCIENCE
    67. Westcott, MC; Ward, M; Mitchell, SM
      Failure of accommodation in patients with HIV infection

      EYE
    68. Chowers, I; Banin, E; Merin, S; Cooper, M; Granot, E
      Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients

      EYE
    69. Ohashi, H; Yamakawa, R; Ohashi, H
      Retinal detachment associated with macular hole in a patient with high myopic Usher's syndrome

      EYE
    70. Seeliger, M; Biesalski, HK
      Vitamin-A metabolism and retinal degeneration

      OPHTHALMOLOGE
    71. Zrenner, E; Ruther, K
      Dosage of vitamin-A derivatives in hereditary retinal degeneration. Current recommendations

      OPHTHALMOLOGE
    72. Kohler, K; Hartmann, JA; Werts, D; Zrenner, E
      Retinal degeneration and biocompatibility of subretinal implants: a histological analysis

      OPHTHALMOLOGE
    73. Eckhorn, R; Stett, A; Schanze, T; Gekeler, F; Schwahn, H; Zrenner, E; Wilms, M; Eger, M; Hesse, L
      Physiological testing of function of retinal implants with animal models

      OPHTHALMOLOGE
    74. Reichel, MB; Schlichtenbrede, F; Paul, D; Wiedemann, P
      Retinal degeneration

      OPHTHALMOLOGE
    75. Palmowski, AM; Allgayer, R; Heinemann-Vernaleken, B; Scherer, V; Eich, W; Ruprecht, KW
      Multifocal electroretinography in segmental retinitis pigmentosa

      OPHTHALMOLOGE
    76. Feigl, B; Haas, A
      Multifocal ERG in central areolar choroidal dystrophy

      OPHTHALMOLOGE
    77. Uhlig, CE; Taneri, S; Benner, FP; Gerding, H
      Electrical stimulation of the visual system. From empirical approaches to the development of visual implants

      OPHTHALMOLOGE
    78. Fauser, S; Aslanukov, A; Roepman, R; Ferreira, PA
      Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene

      MAMMALIAN GENOME
    79. Kalikin, LM; Bugeaud, EM; Palmbos, PL; Lyons, RH; Petty, EM
      Genomic characterization of human SEC14L1 splice variants within a 17q25 candidate tumor suppressor gene region and identification of an unrelated embedded expressed sequence tag

      MAMMALIAN GENOME
    80. Richardson, D; Shires, M; Davison, AM
      Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness

      NEPHROLOGY DIALYSIS TRANSPLANTATION
    81. Hildebrandt, F; Omram, H
      New insights: nephronophthisis-medullary cystic kidney disease

      PEDIATRIC NEPHROLOGY
    82. Merodio, M; Arnedo, A; Renedo, MJ; Irache, JM
      Ganciclovir-loaded albumin nanoparticles: characterization and in vitro release properties

      EUROPEAN JOURNAL OF PHARMACEUTICAL SCIENCES
    83. Van Gelder, RN
      Frontiers of polymerase chain reaction diagnostics for uveitis

      OCULAR IMMUNOLOGY AND INFLAMMATION
    84. Tamm, SA; Whitcup, SM; Gery, I; Wiggert, B; Nussenblatt, RB; Kaiser-Kupfer, MI
      Immune response to retinal antigens in patients with gyrate atrophy and other hereditary retinal dystrophies

      OCULAR IMMUNOLOGY AND INFLAMMATION
    85. Lindqvist, C; Nordstrom, T
      Generation of hydroxyl radicals by the antiviral compound phosphonoformic acid (foscarnet)

      PHARMACOLOGY & TOXICOLOGY
    86. Rice, DS; Nusinowitz, S; Azimi, AM; Martinez, A; Soriano, E; Curran, T
      The reelin pathway modulates the structure and function of retinal synaptic circuitry

      NEURON
    87. Saari, JC; Nawrot, M; Kennedy, BN; Garwin, GG; Hurley, JB; Huang, J; Possin, DE; Crabb, JW
      Visual cycle impairment in cellular retinaldehyde binding protein (CRALBP)knockout mice results in delayed dark adaptation

      NEURON
    88. Martin, BK; Gilpin, AMK; Jabs, DA; Wu, AW
      Reliability, validity, and responsiveness of general and disease-specific quality of life measures in a clinical trial for cytomegalovirus retinitis

      JOURNAL OF CLINICAL EPIDEMIOLOGY
    89. Uechi, T; Tanaka, T; Kenmochi, N
      A complete map of the human ribosomal protein genes: Assignment of 80 genes to the cytogenetic map and implications for human disorders

      GENOMICS
    90. Swaiman, KF
      Hallervorden-Spatz syndrome

      PEDIATRIC NEUROLOGY
    91. Duval, X; Trad, S; Le Moing, V; Longuet, P; Leport, C; Vilde, JL
      Paradoxical aggravation of tuberculosis after antiretroviral treatment in HIV-infected patients

      PRESSE MEDICALE
    92. Scholl, HPN; Langrova, H; Weber, BHF; Zrenner, E; Apfelstedt-Sylla, E
      Clinical electrophysiology of two rod pathways: normative values and clinical application

      GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
    93. Cursiefen, C; Holbach, LM; Schlotzer-Schrehardt, U; Naumann, GOH
      Persisting retinal ganglion cell axons in blind atrophic human eyes

      GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
    94. Bolanos-Jimenez, F; Bordais, A; Behra, M; Strahle, U; Mornet, D; Sahel, J; Rendon, A
      Molecular cloning and characterization of dystrophin and Dp71, two products of the Duchenne Muscular Dystrophy gene, in zebrafish

      GENE
    95. Heikenwalder, MF; Koritschoner, NP; Pajer, P; Chaboissier, MC; Kurz, SM; Briegel, KJ; Bartunek, P; Zenke, M
      Molecular cloning, expression and regulation of the avian tubby-like protein 1 (tulp1) gene

      GENE
    96. Rana, BK; Shiina, T; Insel, PA
      Genetic variations and polymorphisms of G protein-coupled receptors: Functional and therapeutic implications

      ANNUAL REVIEW OF PHARMACOLOGY AND TOXICOLOGY
    97. Fumagalli, A; Ferrari, M; Soriani, N; Gessi, A; Foglieni, B; Martina, E; Manitto, MP; Brancato, R; Dean, M; Allikmets, R; Cremonesi, L
      Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients

      HUMAN GENETICS
    98. Yatsenko, AN; Shroyer, NF; Lewis, RA; Lupski, JR
      Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4)

      HUMAN GENETICS
    99. Stevenson, VL; Hardie, RJ
      Acanthocytosis and neurological disorders

      JOURNAL OF NEUROLOGY
    100. Lu, C; Peng, YW; Shang, J; Pawlyk, BS; Yu, F; Li, T
      The mammalian retinal degeneration B2 gene is not required for photoreceptor function and survival

      NEUROSCIENCE


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/08/20 alle ore 14:44:05