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Journal Abstract Search

122 related items for PubMed ID: 35659618

  • 1. Phenotypes and genotypes underlying paradoxical pupillary reaction in children.
    Khan AO.
    J AAPOS; 2022 Aug; 26(4):205-207. PubMed ID: 35659618
    [Abstract] [Full Text] [Related]

  • 2. Presentation of TRPM1-Associated Congenital Stationary Night Blindness in Children.
    Miraldi Utz V, Pfeifer W, Longmuir SQ, Olson RJ, Wang K, Drack AV.
    JAMA Ophthalmol; 2018 Apr 01; 136(4):389-398. PubMed ID: 29522070
    [Abstract] [Full Text] [Related]

  • 3. Congenital Stationary Night Blindness due to Novel TRPM1 Gene Mutations in a Korean Patient.
    Lee YJ, Joo K, Seong MW, Park KH, Park SS, Woo SJ.
    Korean J Ophthalmol; 2020 Apr 01; 34(2):170-172. PubMed ID: 32233153
    [No Abstract] [Full Text] [Related]

  • 4. Congenital stationary night blindness: an update and review of the disease spectrum in Saudi Arabia.
    Almutairi F, Almeshari N, Ahmad K, Magliyah MS, Schatz P.
    Acta Ophthalmol; 2021 Sep 01; 99(6):581-591. PubMed ID: 33369259
    [Abstract] [Full Text] [Related]

  • 5. Clinical and genetic findings in TRPM1-related congenital stationary night blindness.
    Iosifidis C, Liu J, Gale T, Ellingford JM, Campbell C, Ingram S, Chandler K, Parry NRA, Black GC, Sergouniotis PI.
    Acta Ophthalmol; 2022 Sep 01; 100(6):e1332-e1339. PubMed ID: 35633130
    [Abstract] [Full Text] [Related]

  • 6. Unilateral cataract and congenital stationary night blindness in a child with novel variants in TRPM1.
    Saleh E, Pechhacker MG, Vig A, Mehta M, Maynes J, Tumber A, Tavares E, Vincent A, Mireskandari K, Heon E.
    J AAPOS; 2022 Aug 01; 26(4):202-205. PubMed ID: 35872165
    [Abstract] [Full Text] [Related]

  • 7. Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese patients with Schubert-Bornschein congenital stationary night blindness.
    Dan H, Song X, Li J, Xing Y, Li T.
    Ophthalmic Genet; 2017 Aug 01; 38(3):206-210. PubMed ID: 27428514
    [Abstract] [Full Text] [Related]

  • 8. TRPM1 Mutations are the Most Common Cause of Autosomal Recessive Congenital Stationary Night Blindness (CSNB) in the Palestinian and Israeli Populations.
    AlTalbishi A, Zelinger L, Zeitz C, Hendler K, Namburi P, Audo I, Sheffer R, Yahalom C, Khateb S, Banin E, Sharon D.
    Sci Rep; 2019 Aug 19; 9(1):12047. PubMed ID: 31427709
    [Abstract] [Full Text] [Related]

  • 9. A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
    Mahmood U, Méjécase C, Ali SMA, Moosajee M, Kozak I.
    Genes (Basel); 2021 Jan 27; 12(2):. PubMed ID: 33513752
    [Abstract] [Full Text] [Related]

  • 10. Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1.
    Delle Fave M, Cordonnier M, Vallee L, Condroyer C, Zeitz C, Balikova I.
    Ophthalmic Genet; 2021 Jun 27; 42(3):296-299. PubMed ID: 33691579
    [Abstract] [Full Text] [Related]

  • 11. Retinal findings in a patient of French ancestry with CABP4-related retinal disease.
    Smirnov VM, Zeitz C, Soumittra N, Audo I, Defoort-Dhellemmes S.
    Doc Ophthalmol; 2018 Apr 27; 136(2):135-143. PubMed ID: 29525873
    [Abstract] [Full Text] [Related]

  • 12. Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
    Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM.
    Ophthalmology; 2013 Oct 27; 120(10):2072-81. PubMed ID: 23714322
    [Abstract] [Full Text] [Related]

  • 13. Congenital Stationary Night Blindness: Structure, Function and Genotype-Phenotype Correlations in a Cohort of 122 Patients.
    Katta M, de Guimaraes TAC, Fujinami-Yokokawa Y, Fujinami K, Georgiou M, Mahroo OA, Webster AR, Michaelides M.
    Ophthalmol Retina; 2024 Sep 27; 8(9):932-941. PubMed ID: 38522615
    [Abstract] [Full Text] [Related]

  • 14. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
    Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T.
    Invest Ophthalmol Vis Sci; 2016 Dec 01; 57(15):6861-6869. PubMed ID: 28002560
    [Abstract] [Full Text] [Related]

  • 15. Congenital Stationary Night Blindness: Clinical and Genetic Features.
    Kim AH, Liu PK, Chang YH, Kang EY, Wang HH, Chen N, Tseng YJ, Seo GH, Lee H, Liu L, Chao AN, Chen KJ, Hwang YS, Wu WC, Lai CC, Tsang SH, Hsiao MC, Wang NK.
    Int J Mol Sci; 2022 Nov 29; 23(23):. PubMed ID: 36499293
    [Abstract] [Full Text] [Related]

  • 16. Congenital stationary night blindness with hypoplastic discs, negative electroretinogram and thinning of the inner nuclear layer.
    Al Oreany AA, Al Hadlaq A, Schatz P.
    Graefes Arch Clin Exp Ophthalmol; 2016 Oct 29; 254(10):1951-1956. PubMed ID: 27084085
    [Abstract] [Full Text] [Related]

  • 17. Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.
    Birtel J, Gliem M, Hess K, Birtel TH, Holz FG, Zechner U, Bolz HJ, Herrmann P.
    Genes (Basel); 2020 Jan 28; 11(2):. PubMed ID: 32013026
    [Abstract] [Full Text] [Related]

  • 18. Novel biallelic TRPM1 variants in an elderly patient with complete congenital stationary night blindness.
    Hayashi T, Mizobuchi K, Kikuchi S, Nakano T.
    Doc Ophthalmol; 2021 Apr 28; 142(2):265-273. PubMed ID: 33068213
    [Abstract] [Full Text] [Related]

  • 19. NYX-related Congenital Stationary Night Blindness in Two Siblings due to Probable Maternal Germline Mosaicism.
    Scanga HL, Liasis A, Pihlblad MS, Nischal KK.
    Ophthalmic Genet; 2021 Oct 28; 42(5):588-592. PubMed ID: 34165036
    [Abstract] [Full Text] [Related]

  • 20. Clinical characterisation of the CABP4-related retinal phenotype.
    Khan AO, Alrashed M, Alkuraya FS.
    Br J Ophthalmol; 2013 Mar 28; 97(3):262-5. PubMed ID: 23099293
    [Abstract] [Full Text] [Related]

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