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La ricerca find articoli where soggetti phrase all words 'STARGARDT-DISEASE' sort by level,fasc_key/DESCEND, pagina_ini_num/ASCEND ha restituito 58 riferimenti
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    1. Ciulla, TA; Harris, A; Martin, BJ
      Ocular perfusion and age-related macular degeneration

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    2. 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
    3. Stone, EM; Sheffield, VC; Hageman, GS
      Molecular genetics of age-related macular degeneration

      HUMAN MOLECULAR GENETICS
    4. Ben-Shabat, S; Parish, CA; Hashimoto, M; Liu, JH; Nakanishi, K; Sparrow, JR
      Fluorescent pigments of the retinal pigment epithelium and age-related macular degeneration

      BIOORGANIC & MEDICINAL CHEMISTRY LETTERS
    5. de Jong, PTVM; Bergen, AAB; Klaver, CCW; Van Duijn, CM; Assink, JM
      Age-related maculopathy: its genetic basis

      EYE
    6. Yan, WM; Jang, GF; Haeseleer, F; Esumi, N; Chang, JH; Kerrigan, M; Campochiaro, M; Campochiaro, P; Palczewski, K; Zack, DJ
      Cloning and characterization of a human beta,beta-carotene-15, 15 '-dioxygenase that is highly expressed in the retinal pigment epithelium

      GENOMICS
    7. Broccardo, C; Osorio, J; Luciani, MF; Schriml, LM; Prades, C; Shulenin, S; Arnould, I; Naudin, L; Lafargue, C; Rosier, M; Jordan, B; Mattei, M; Dean, M; Denefle, P; Chimini, G
      Comparative analysis of the promoter structure and genomic organization ofthe human and mouse ABCA7 gene encoding a novel ABCA transporter

      CYTOGENETICS AND CELL GENETICS
    8. Souied, E; Kaplan, J; Coscas, G; Soubrane, G
      Genetic of AMD

      JOURNAL FRANCAIS D OPHTALMOLOGIE
    9. Owsley, C; Jackson, GR; White, M; Feist, R; Edwards, D
      Delays in rod-mediated dark adaptation in early age-related maculopathy

      OPHTHALMOLOGY
    10. Seddon, JM; Afshari, MA; Sharma, S; Bernstein, PS; Chong, S; Hutchinson, A; Petrukhin, K; Allikmets, R
      Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy

      OPHTHALMOLOGY
    11. Mata, NL; Tzekov, RT; Liu, XR; Weng, J; Birch, DG; Travis, GH
      Delayed. dark-adaptation and lipofuscin accumulation in abcr+/- mice: Implications for involvement of ABCR in age-related macular degeneration

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    12. Donoso, LA; Edwards, AO; Frost, A; Vrabec, T; Stone, EM; Hageman, GS; Perski, T
      Autosomal dominant Stargardt-like macular dystrophy

      SURVEY OF OPHTHALMOLOGY
    13. Ragauskaite, L; Heckathorn, RC; Gaillard, ER
      Environmental effects on the photochemistry of A2-E, a component of human retinal lipofuscin

      PHOTOCHEMISTRY AND PHOTOBIOLOGY
    14. Simonelli, F; Margaglione, M; Testa, F; Cappucci, G; Manitto, MP; Brancato, R; Rinaldi, E
      Apolipoprotein E polymorphisms in age-related macular degeneration in an Italian population

      OPHTHALMIC RESEARCH
    15. Li, Y; Marcos, I; Borrego, S; Yu, ZY; Zhang, K; Antinolo, G
      Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linkedto the RP25 locus

      JOURNAL OF MEDICAL GENETICS
    16. Sauer, CG; White, K; Stohr, H; Grimm, T; Hutchinson, A; Bernstein, PS; Lewis, RA; Simonelli, F; Pauleikhoff, D; Allikmets, R; Weber, BHF
      Evaluation of the G protein coupled receptor-75 (GPR75) in age related macular degeneration

      BRITISH JOURNAL OF OPHTHALMOLOGY
    17. Ciulla, TA
      Evolving pathophysiological paradigms for age related macular degeneration

      BRITISH JOURNAL OF OPHTHALMOLOGY
    18. Biswas, EE
      Nucleotide binding domain 1 of the human retinal ABC transporter functionsas a general ribonucleotidase

      BIOCHEMISTRY
    19. Gorin, MB
      The ABCA4 gene and age-related macular degeneration - Innocence or guilt by association

      ARCHIVES OF OPHTHALMOLOGY
    20. Le Saux, O; Beck, K; Sachsinger, C; Silvestri, C; Treiber, C; Goring, HHH; Johnson, EW; De Paepe, A; Pope, FM; Pasquali-Ronchetti, I; Bercovitch, L; Terry, S; Boyd, CD
      A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum

      AMERICAN JOURNAL OF HUMAN GENETICS
    21. Lewis, RA; Lupski, JR
      Macular degeneration: The emerging genetics

      HOSPITAL PRACTICE
    22. Pang, CP; Baum, L; Lam, DSC
      Hunting for disease genes in multi-functional diseases

      CLINICAL CHEMISTRY AND LABORATORY MEDICINE
    23. Pinckers, A; Uvijls, A
      The luminance fall in anomaloscope examination: clinical examples

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    24. Schmidt, S; Saunders, AM; De la Paz, M; Postel, EA; Heinis, RM; Agarwal, A; Scott, WK; Gilbert, JR; McDowell, JG; Bazyk, A; Gass, JDM; Haines, JL; Pericak-Vance, MA
      Association of the Apolipoprotein E gene with age-related macular degeneration: Possible effect modification by family history, age, and gender

      MOLECULAR VISION
    25. Phelan, JK; Bok, D
      A brief review of retinitis pigmentosa and the identified retinitis pigmentosa genes

      MOLECULAR VISION
    26. Sun, H; Smallwood, PM; Nathans, J
      Biochemical defects in ABCR protein variants associated with human retinopathies

      NATURE GENETICS
    27. Weeks, DE; Conley, YP; Mah, TS; Paul, TO; Morse, L; Ngo-Chang, J; Dailey, JP; Ferrell, RE; Gorin, MB
      A full genome scan for age-related maculopathy

      HUMAN MOLECULAR GENETICS
    28. Schmitz, G; Kaminski, WE; Orso, E
      ABC transporters in cellular lipid trafficking

      CURRENT OPINION IN LIPIDOLOGY
    29. Sparrow, JR; Nakanishi, K; Parish, CA
      The lipofuscin fluorophore A2E mediates blue light-induced damage to retinal pigmented epithelial cells

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    30. Souied, EH; Ducroq, D; Rozet, JM; Gerber, S; Perrault, I; Munnich, A; Coscas, G; Soubrane, G; Kaplan, J
      ABCR gene analysis in familial exudative age-related macular degeneration

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    31. Pang, CP; Baum, L; Chan, WM; Lau, TC; Poon, PMK; Lam, DSC
      The apolipoprotein E epsilon 4 allele is unlikely to be a major risk factor of age-related macular degeneration in Chinese

      OPHTHALMOLOGICA
    32. Mata, NL; Weng, J; Travis, GH
      Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    33. Ringpfeil, F; Lebwohl, MG; Christiano, AM; Uitto, J
      Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
    34. Lansel, N; Niemeyer, G; Tholen, A
      Stargardt's disease and its intrafamilial variability

      KLINISCHE MONATSBLATTER FUR AUGENHEILKUNDE
    35. Yates, JRW; Moore, AT
      Genetic susceptibility to age related macular degeneration

      JOURNAL OF MEDICAL GENETICS
    36. Rattner, A; Smallwood, PM; Nathans, J
      Identification and characterization of all-trans-retinol dehydrogenase from photoreceptor outer segments, the visual cycle enzyme that reduces all-trans-retinal to all-trans-retinol

      JOURNAL OF BIOLOGICAL CHEMISTRY
    37. Fuse, N; Suzuki, T; Wada, Y; Yoshida, M; Shimura, M; Abe, T; Nakazawa, M; Tamai, M
      Molecular genetic analysis of ABCR gene in Japanese dry form age-related macular degeneration

      JAPANESE JOURNAL OF OPHTHALMOLOGY
    38. Biswas, EE; Biswas, SB
      The C-terminal nucleotide binding domain of the human retinal ABCR proteinis an adenosine triphosphatase

      BIOCHEMISTRY
    39. Friedman, E
      The role of the atherosclerotic process in the pathogenesis of age-relatedmacular degeneration

      AMERICAN JOURNAL OF OPHTHALMOLOGY
    40. Allikmets, R
      Simple and complex ABCR: Genetic predisposition to retinal disease

      AMERICAN JOURNAL OF HUMAN GENETICS
    41. Maugeri, A; Klevering, BJ; Rohrschneider, K; Blankenagel, A; Brunner, HG; Deutman, AF; Hoyng, CB; Cremers, FPM
      Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

      AMERICAN JOURNAL OF HUMAN GENETICS
    42. Allikmets, R
      Further evidence for an association of ABCR alleles with age-related macular degeneration

      AMERICAN JOURNAL OF HUMAN GENETICS
    43. Dharmaraj, S; Li, YY; Robitaille, JM; Silva, E; Zhu, DP; Mitchell, TN; Maltby, LP; Baffoe-Bonnie, AB; Maumenee, IH
      A novel locus for Leber congenital amaurosis maps to chromosome 6q

      AMERICAN JOURNAL OF HUMAN GENETICS
    44. Allikmets, R
      Molecular genetics of age-related macular degeneration: Current status

      EUROPEAN JOURNAL OF OPHTHALMOLOGY
    45. Rozet, JM; Gerber, S; Souied, E; Ducroq, D; Perrault, I; Ghazi, I; Soubrane, G; Coscas, G; Dufier, JL; Munnich, A; Kaplan, J
      The ABCR gene: A major disease gene in macular and peripheral retinal degenerations with onset from early childhood to the elderly

      MOLECULAR GENETICS AND METABOLISM
    46. Sunness, JS
      The natural history of geographic atrophy, the advanced atrophic form of age-related macular degeneration

      MOLECULAR VISION
    47. Zack, DJ; Dean, M; Molday, RS; Nathans, J; Redmond, TM; Stone, EM; Swaroop, A; Valle, D; Weber, BHF
      What can we learn about age-related macular degeneration from other retinal diseases?

      MOLECULAR VISION
    48. Allikmets, R; Seddon, JM; Bernstein, PS; Hutchinson, A; Atkinson, A; Sharma, S; Gerrard, B; Li, W; Metzker, ML; Wadelius, C; Caskey, CT; Dean, M; Petrukhin, K
      Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies

      HUMAN GENETICS
    49. Souied, EH; Ducroq, D; Rozet, JM; Gerber, S; Perrault, I; Sterkers, M; Benhamou, N; Munnich, A; Coscas, G; Soubrane, G; Kaplan, J
      A novel ABCR nonsense mutation responsible for late-onset fundus flavimaculatus

      INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
    50. Shroyer, NF; Lewis, RA; Allikmets, R; Singh, N; Dean, M; Leppert, M; Lupski, JR
      The rod photoreceptor ATP-binding cassette transporter gene, ABCR, and retinal disease: from monogenic to multifactorial

      VISION RESEARCH
    51. Rozet, JM; Gerber, S; Ghazi, I; Perrault, I; Ducroq, D; Souied, E; Cabot, A; Dufier, JL; Munnich, A; Kaplan, J
      Mutations of the retinal specific ATP binding transporter gene (ABCR) in asingle family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus

      JOURNAL OF MEDICAL GENETICS
    52. Klevering, BJ; van Driel, M; van de Pol, DJR; Pinckers, AJLG; Cremers, FPM; Hoyng, CB
      Phenotypic variations in a family with retinal dystrophy as result of different mutations in the ABCR gene

      BRITISH JOURNAL OF OPHTHALMOLOGY
    53. Arnell, H; Mantyjarvi, M; Tuppurainen, K; Andreasson, S; Dahl, N
      Stargardt disease: Linkage to the ABCR gene region on 1p21-p22 in Scandinavian families

      ACTA OPHTHALMOLOGICA SCANDINAVICA
    54. VANDRIEL MA; MAUGERI A; KLEVERING BJ; HOYNG CB; CREMERS FPM
      ABCR UNITES WHAT OPHTHALMOLOGISTS DIVIDE(S)

      Ophthalmic genetics
    55. ROZET JM; GERBER S; SOUIED E; PERRAULT I; CHATELIN S; GHAZI I; LEOWSKI C; DUFIER JL; MUNNICH A; KAPLAN J
      SPECTRUM OF ABCR GENE-MUTATIONS IN AUTOSOMAL RECESSIVE MACULAR DYSTROPHIES

      European journal of human genetics
    56. Weber, BHF
      Recent advances in the molecular genetics of hereditary retinal dystrophies with primary involvement of the macula

      ACTA ANATOMICA
    57. SARRI C; GYFTODIMOU J; AVRAMOPOULOS D; GRIGORIADOU M; PEDERSEN W; PANDELIA E; PANGALOS C; ABAZIS D; KITSOS G; VASSILOPOULOS D; BRONDUMNIELSEN K; PETERSEN MB
      PARTIAL TRISOMY 17Q22-QTER AND PARTIAL MONOSOMY XQ27-QTER IN A GIRL WITH A DE-NOVO UNBALANCED TRANSLOCATION DUE TO A POSTZYGOTIC ERROR - CASE-REPORT AND REVIEW OF THE LITERATURE ON PARTIAL TRISOMY 17QTER

      American journal of medical genetics
    58. HAYASAKA S; KUROME H; NODA S; MIHARA M
      INITIAL RAPID DECREASE IN VISUAL-ACUITY IN SIBLINGS WITH STARGARDT DISEASE

      Japanese Journal of Ophthalmology


ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/21 alle ore 10:04:59