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Journal Abstract Search

109 related items for PubMed ID: 36317196

  • 21. Localization of a novel X-linked congenital stationary night blindness locus: close linkage to the RP3 type retinitis pigmentosa gene region.
    Bergen AA, ten Brink JB, Riemslag F, Schuurman EJ, Tijmes N.
    Hum Mol Genet; 1995 May; 4(5):931-5. PubMed ID: 7633454
    [Abstract] [Full Text] [Related]

  • 22. Severe retinitis pigmentosa with posterior staphyloma in a family with c.886C>A p.(Lys296Glu) RHO mutation.
    Smirnov VM, Marks C, Drumare I, Defoort-Dhellemmes S, Dhaenens CM.
    Ophthalmic Genet; 2019 Aug; 40(4):365-368. PubMed ID: 31438752
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  • 23. Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.
    Bodenbender JP, Marino V, Bethge L, Stingl K, Haack TB, Biskup S, Kohl S, Kühlewein L, Dell'Orco D, Weisschuh N.
    Int J Mol Sci; 2023 Jan 31; 24(3):. PubMed ID: 36769033
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  • 24. Coexistence of Posterior Staphyloma, Retinitis Pigmentosa and Moderate Myopia.
    Ilhan A, Yolcu U, Diner O, Uzun S, Gundogan FC.
    J Coll Physicians Surg Pak; 2016 Jan 31; 26(1):70-1. PubMed ID: 26787037
    [Abstract] [Full Text] [Related]

  • 25. Bi-Allelic Pathogenic Variations in MERTK Including Deletions Are Associated with an Early Onset Progressive Form of Retinitis Pigmentosa.
    Jespersgaard C, Bertelsen M, Arif F, Gellert-Kristensen HG, Fang M, Jensen H, Rosenberg T, Tümer Z, Møller LB, Brøndum-Nielsen K, Grønskov K.
    Genes (Basel); 2020 Dec 18; 11(12):. PubMed ID: 33353011
    [Abstract] [Full Text] [Related]

  • 26. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D.
    Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV.
    Am J Ophthalmol; 2018 Jun 18; 190():58-68. PubMed ID: 29559409
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  • 27. Clinical and genetic investigations of three Moroccan families with retinitis pigmentosa phenotypes.
    Bouzidi A, Charif M, Bouzidi A, Amalou G, Kandil M, Barakat A, Lenaers G.
    Mol Vis; 2021 Jun 18; 27():17-25. PubMed ID: 33633436
    [Abstract] [Full Text] [Related]

  • 28. A novel IMPDH1 mutation (Arg231Pro) in a family with a severe form of autosomal dominant retinitis pigmentosa.
    Grover S, Fishman GA, Stone EM.
    Ophthalmology; 2004 Oct 18; 111(10):1910-6. PubMed ID: 15465556
    [Abstract] [Full Text] [Related]

  • 29. Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease.
    Kaukonen M, Woods S, Ahonen S, Lemberg S, Hellman M, Hytönen MK, Permi P, Glaser T, Lohi H.
    Cell Rep; 2018 May 29; 23(9):2643-2652. PubMed ID: 29847795
    [Abstract] [Full Text] [Related]

  • 30. Prevalence of generalized retinal dystrophy in Denmark.
    Bertelsen M, Jensen H, Bregnhøj JF, Rosenberg T.
    Ophthalmic Epidemiol; 2014 Aug 29; 21(4):217-23. PubMed ID: 24963760
    [Abstract] [Full Text] [Related]

  • 31. Gene discovery and prevalence in inherited retinal dystrophies.
    Hamel CP.
    C R Biol; 2014 Mar 29; 337(3):160-6. PubMed ID: 24702842
    [Abstract] [Full Text] [Related]

  • 32. Non-syndromic retinitis pigmentosa.
    Verbakel SK, van Huet RAC, Boon CJF, den Hollander AI, Collin RWJ, Klaver CCW, Hoyng CB, Roepman R, Klevering BJ.
    Prog Retin Eye Res; 2018 Sep 29; 66():157-186. PubMed ID: 29597005
    [Abstract] [Full Text] [Related]

  • 33. RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome.
    Isken A, Golczak M, Oberhauser V, Hunzelmann S, Driever W, Imanishi Y, Palczewski K, von Lintig J.
    Cell Metab; 2008 Mar 29; 7(3):258-68. PubMed ID: 18316031
    [Abstract] [Full Text] [Related]

  • 34. Retinitis pigmentosa and allied disorders in Denmark. IV. Ophthalmic features in systemic and non-systemic cases.
    Haim M, Rosenberg T.
    Acta Ophthalmol (Copenh); 1993 Oct 29; 71(5):597-605. PubMed ID: 8109205
    [Abstract] [Full Text] [Related]

  • 35. Retinitis pigmentosa: defined from a molecular point of view.
    van Soest S, Westerveld A, de Jong PT, Bleeker-Wagemakers EM, Bergen AA.
    Surv Ophthalmol; 1999 Oct 29; 43(4):321-34. PubMed ID: 10025514
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  • 36. Involvement of LCA5 in Leber congenital amaurosis and retinitis pigmentosa in the Spanish population.
    Corton M, Avila-Fernandez A, Vallespín E, López-Molina MI, Almoguera B, Martín-Garrido E, Tatu SD, Khan MI, Blanco-Kelly F, Riveiro-Alvarez R, Brión M, García-Sandoval B, Cremers FPM, Carracedo A, Ayuso C.
    Ophthalmology; 2014 Jan 29; 121(1):399-407. PubMed ID: 24144451
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  • 37. Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.
    Jin J, Liang L, Jin K, Zhang HJ, Liu R, Shen Y.
    Brain Topogr; 2022 Jul 29; 35(4):525-535. PubMed ID: 35006499
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  • 38. A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.
    Sohocki MM, Sullivan LS, Mintz-Hittner HA, Birch D, Heckenlively JR, Freund CL, McInnes RR, Daiger SP.
    Am J Hum Genet; 1998 Nov 29; 63(5):1307-15. PubMed ID: 9792858
    [Abstract] [Full Text] [Related]

  • 39. An RBP4 promoter polymorphism increases risk of type 2 diabetes.
    van Hoek M, Dehghan A, Zillikens MC, Hofman A, Witteman JC, Sijbrands EJ.
    Diabetologia; 2008 Aug 29; 51(8):1423-8. PubMed ID: 18496666
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  • 40. Genotypes Predispose Phenotypes-Clinical Features and Genetic Spectrum of ABCA4-Associated Retinal Dystrophies.
    Sung YC, Yang CH, Yang CM, Lin CW, Huang DS, Huang YS, Hu FR, Chen PL, Chen TC.
    Genes (Basel); 2020 Nov 27; 11(12):. PubMed ID: 33261146
    [Abstract] [Full Text] [Related]

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