These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

167 related articles for article (PubMed ID: 30578497)

  • 41. Value of the ERG in congenital nystagmus.
    Good PA; Searle AE; Campbell S; Crews SJ
    Br J Ophthalmol; 1989 Jul; 73(7):512-5. PubMed ID: 2788016
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Hereditary blindness among Pingelapese people of Eastern Caroline Islands.
    Brody JA; Hussels I; Brink E; Torres J
    Lancet; 1970 Jun; 1(7659):1253-7. PubMed ID: 4192495
    [No Abstract]   [Full Text] [Related]  

  • 43. [Optical coherence tomography in the diagnosis of achromatopsia].
    Burgueño-Montañés C; Colunga-Cueva M
    Arch Soc Esp Oftalmol; 2014 Feb; 89(2):70-3. PubMed ID: 24269402
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
    Kohl S; Marx T; Giddings I; Jägle H; Jacobson SG; Apfelstedt-Sylla E; Zrenner E; Sharpe LT; Wissinger B
    Nat Genet; 1998 Jul; 19(3):257-9. PubMed ID: 9662398
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Multimodal retinal imaging in achromatopsia.
    Ho YF; Kao LY; Lai CC; Wu WC; Wang NK
    Retin Cases Brief Rep; 2014; 8(1):1-3. PubMed ID: 25372195
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Blue cone monochromatism: a phenotype and genotype assessment with evidence of progressive loss of cone function in older individuals.
    Michaelides M; Johnson S; Simunovic MP; Bradshaw K; Holder G; Mollon JD; Moore AT; Hunt DM
    Eye (Lond); 2005 Jan; 19(1):2-10. PubMed ID: 15094734
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Paradoxical pupil in congenital achromatopsia.
    Flynn JT; Kazarian E; Barricks M
    Int Ophthalmol; 1981 Mar; 3(2):91-6. PubMed ID: 6971816
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Cone dystrophy with supernormal rod response is strictly associated with mutations in KCNV2.
    Wissinger B; Dangel S; Jägle H; Hansen L; Baumann B; Rudolph G; Wolf C; Bonin M; Koeppen K; Ladewig T; Kohl S; Zrenner E; Rosenberg T
    Invest Ophthalmol Vis Sci; 2008 Feb; 49(2):751-7. PubMed ID: 18235024
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration.
    Lewis CA; Batlle IR; Batlle KG; Banerjee P; Cideciyan AV; Huang J; Alemán TS; Huang Y; Ott J; Gilliam TC; Knowles JA; Jacobson SG
    Invest Ophthalmol Vis Sci; 1999 Aug; 40(9):2106-14. PubMed ID: 10440267
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
    Nishiguchi KM; Sandberg MA; Gorji N; Berson EL; Dryja TP
    Hum Mutat; 2005 Mar; 25(3):248-58. PubMed ID: 15712225
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Eye movement abnormalities in carriers of blue-cone monochromatism.
    Gottlob I
    Invest Ophthalmol Vis Sci; 1994 Aug; 35(9):3556-60. PubMed ID: 8056533
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
    Kohl S; Zobor D; Chiang WC; Weisschuh N; Staller J; Gonzalez Menendez I; Chang S; Beck SC; Garcia Garrido M; Sothilingam V; Seeliger MW; Stanzial F; Benedicenti F; Inzana F; Héon E; Vincent A; Beis J; Strom TM; Rudolph G; Roosing S; Hollander AI; Cremers FP; Lopez I; Ren H; Moore AT; Webster AR; Michaelides M; Koenekoop RK; Zrenner E; Kaufman RJ; Tsang SH; Wissinger B; Lin JH
    Nat Genet; 2015 Jul; 47(7):757-65. PubMed ID: 26029869
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Long-term follow-up of two patients with oligocone trichromacy.
    Smirnov V; Drumare I; Bouacha I; Puech B; Defoort-Dhellemmes S
    Doc Ophthalmol; 2015 Oct; 131(2):149-58. PubMed ID: 26138751
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Achromatopsia Showing Compound Heterozygous Mutations in
    Wang H; Liu Z; Zhang Y; Tao D; Li L
    J Pediatr Ophthalmol Strabismus; 2023; 60(5):e65-e69. PubMed ID: 37747165
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders.
    Brotherton C; Megaw R
    Genes (Basel); 2024 Jun; 15(6):. PubMed ID: 38927662
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Usefulness of handheld electroretinogram system for diagnosing blue-cone monochromatism in children.
    Haseoka T; Inagaki R; Kurata K; Arai S; Takagi Y; Suzuki H; Hikoya A; Nishimura K; Hotta Y; Sato M
    Jpn J Ophthalmol; 2021 Jan; 65(1):23-29. PubMed ID: 33135089
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Seeing color following gene augmentation therapy in achromatopsia.
    McKyton A; Marks Ohana D; Nahmany E; Banin E; Levin N
    Curr Biol; 2023 Aug; 33(16):3489-3494.e2. PubMed ID: 37433300
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Understanding Cone Photoreceptor Cell Death in Achromatopsia.
    Carvalho LS; Vandenberghe LH
    Adv Exp Med Biol; 2016; 854():231-6. PubMed ID: 26427416
    [TBL] [Abstract][Full Text] [Related]  

  • 59. A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene.
    Chang B; Grau T; Dangel S; Hurd R; Jurklies B; Sener EC; Andreasson S; Dollfus H; Baumann B; Bolz S; Artemyev N; Kohl S; Heckenlively J; Wissinger B
    Proc Natl Acad Sci U S A; 2009 Nov; 106(46):19581-6. PubMed ID: 19887631
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Eye and head movements in patients with achromatopsia.
    Gottlob I; Reinecke RD
    Graefes Arch Clin Exp Ophthalmol; 1994 Jul; 232(7):392-401. PubMed ID: 7926869
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.