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Journal Abstract Search

187 related items for PubMed ID: 25820994

  • 21. Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene.
    Iannaccone A, Tedesco SA, Gallaher KT, Yamamoto H, Charles S, Dryja TP.
    Doc Ophthalmol; 2007 Sep; 115(2):111-6. PubMed ID: 17476461
    [Abstract] [Full Text] [Related]

  • 22. A homozygous frameshift mutation in LRAT causes retinitis punctata albescens.
    Littink KW, van Genderen MM, van Schooneveld MJ, Visser L, Riemslag FC, Keunen JE, Bakker B, Zonneveld MN, den Hollander AI, Cremers FP, van den Born LI.
    Ophthalmology; 2012 Sep; 119(9):1899-906. PubMed ID: 22559933
    [Abstract] [Full Text] [Related]

  • 23. [Fundus albipunctatus with mutations in the RDH5 gene (clinical case)].
    Zolnikova IV, Kadyshev VV, Marakhonov AV, Zinchenko RA, Cherniak AB, Milash SV, Kogoleva LV, Bobrovskaya YA, Kokoeva NS, Egorova IV, Rogova SY.
    Vestn Oftalmol; 2021 Sep; 137(1):68-73. PubMed ID: 33610152
    [Abstract] [Full Text] [Related]

  • 24. Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
    Ajmal M, Khan MI, Neveling K, Khan YM, Ali SH, Ahmed W, Iqbal MS, Azam M, den Hollander AI, Collin RW, Qamar R, Cremers FP.
    Mol Vis; 2012 Sep; 18():1558-71. PubMed ID: 22736946
    [Abstract] [Full Text] [Related]

  • 25. Cone and rod dysfunction in fundus albipunctatus with RDH5 mutation: an electrophysiological study.
    Niwa Y, Kondo M, Ueno S, Nakamura M, Terasaki H, Miyake Y.
    Invest Ophthalmol Vis Sci; 2005 Apr; 46(4):1480-5. PubMed ID: 15790919
    [Abstract] [Full Text] [Related]

  • 26. Macular dystrophy in a Japanese family with fundus albipunctatus.
    Hotta K, Nakamura M, Kondo M, Ito S, Terasaki H, Miyake Y, Hida T.
    Am J Ophthalmol; 2003 Jun; 135(6):917-9. PubMed ID: 12788147
    [Abstract] [Full Text] [Related]

  • 27. Macular dystrophy in a 9-year-old boy with fundus albipunctatus.
    Nakamura M, Miyake Y.
    Am J Ophthalmol; 2002 Feb; 133(2):278-80. PubMed ID: 11812441
    [Abstract] [Full Text] [Related]

  • 28. Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes.
    Fishman GA, Roberts MF, Derlacki DJ, Grimsby JL, Yamamoto H, Sharon D, Nishiguchi KM, Dryja TP.
    Arch Ophthalmol; 2004 Jan; 122(1):70-5. PubMed ID: 14718298
    [Abstract] [Full Text] [Related]

  • 29. Long-term fundus changes due to Fundus albipunctatus associated with mutations in the RDH5 gene.
    Sekiya K, Nakazawa M, Ohguro H, Usui T, Tanimoto N, Abe H.
    Arch Ophthalmol; 2003 Jul; 121(7):1057-9. PubMed ID: 12860821
    [No Abstract] [Full Text] [Related]

  • 30. A variant form of Oguchi disease mapped to 13q34 associated with partial deletion of GRK1 gene.
    Zhang Q, Zulfiqar F, Riazuddin SA, Xiao X, Yasmeen A, Rogan PK, Caruso R, Sieving PA, Riazuddin S, Hejtmancik JF.
    Mol Vis; 2005 Nov 14; 11():977-85. PubMed ID: 16319817
    [Abstract] [Full Text] [Related]

  • 31. A novel homozygous GRK1 mutation (P391H) in 2 siblings with Oguchi disease with markedly reduced cone responses.
    Hayashi T, Gekka T, Takeuchi T, Goto-Omoto S, Kitahara K.
    Ophthalmology; 2007 Jan 14; 114(1):134-41. PubMed ID: 17070587
    [Abstract] [Full Text] [Related]

  • 32. Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.
    Driessen CA, Janssen BP, Winkens HJ, Kuhlmann LD, Van Vugt AH, Pinckers AJ, Deutman AF, Janssen JJ.
    Ophthalmology; 2001 Aug 14; 108(8):1479-84. PubMed ID: 11470705
    [Abstract] [Full Text] [Related]

  • 33. A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy.
    You H, Sierpina D.
    Case Rep Genet; 2022 Aug 14; 2022():1183772. PubMed ID: 35433063
    [Abstract] [Full Text] [Related]

  • 34. RDH5 and RLBP1-Associated Inherited Retinal Diseases: Refining the Spectrum of Stationary and Progressive Phenotypes.
    Bianco L, Antropoli A, Benadji A, Condroyer C, Antonio A, Navarro J, Sahel JA, Zeitz C, Audo I.
    Am J Ophthalmol; 2024 Nov 14; 267():160-171. PubMed ID: 38945349
    [Abstract] [Full Text] [Related]

  • 35. [Molecular genetic study of congenital stationary night blindness].
    Nakamura M, Miyake Y.
    Nippon Ganka Gakkai Zasshi; 2004 Nov 14; 108(11):665-73. PubMed ID: 15584351
    [Abstract] [Full Text] [Related]

  • 36. Diagnosis in a patient with fundus albipunctatus and atypical fundus changes.
    Hajali M, Fishman GA, Dryja TP, Sweeney MO, Lindeman M.
    Doc Ophthalmol; 2009 Jun 14; 118(3):233-8. PubMed ID: 18949499
    [Abstract] [Full Text] [Related]

  • 37. A founder RDH5 splice site mutation leads to retinitis punctata albescens in two inbred Pakistani kindreds.
    Khan R, Shabbir RMK, Raza I, Abdullah U, Naeem MA, Ahmed A, Malik S, Hu Z, Xia K.
    Ophthalmic Genet; 2020 Feb 14; 41(1):7-12. PubMed ID: 31933420
    [Abstract] [Full Text] [Related]

  • 38. Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture.
    Dryja TP.
    Am J Ophthalmol; 2000 Nov 14; 130(5):547-63. PubMed ID: 11078833
    [Abstract] [Full Text] [Related]

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