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 *

180 related articles for article (PubMed ID: 1432506)

  • 1. Oculocutaneous albinism: variable expressivity of nystagmus in a sibship.
    Cheong PY; King RA; Bateman JB
    J Pediatr Ophthalmol Strabismus; 1992; 29(3):185-8. PubMed ID: 1432506
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Variable expression of vision in sibs with albinism.
    Summers CG; Creel D; Townsend D; King RA
    Am J Med Genet; 1991 Sep; 40(3):327-31. PubMed ID: 1951438
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Ophthalmic features of minimal pigment oculocutaneous albinism.
    Summers CG; King RA
    Ophthalmology; 1994 May; 101(5):906-14. PubMed ID: 8190479
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The Phenotypic Spectrum of Albinism.
    Kruijt CC; de Wit GC; Bergen AA; Florijn RJ; Schalij-Delfos NE; van Genderen MM
    Ophthalmology; 2018 Dec; 125(12):1953-1960. PubMed ID: 30098354
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism.
    Preising MN; Forster H; Gonser M; Lorenz B
    Mol Vis; 2011 Apr; 17():939-48. PubMed ID: 21541274
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Septo-optic dysplasia presenting with nystagmus, pseudo-disc edema, and fovea hypoplasia.
    Sather Ιιι R; Thompson D; Ihinger J; Montezuma SR
    Ophthalmic Genet; 2022 Aug; 43(4):522-529. PubMed ID: 35225164
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical and mutational characteristics of oculocutaneous albinism type 7.
    Kruijt CC; de Wit GC; van Minderhout HM; Schalij-Delfos NE; van Genderen MM
    Sci Rep; 2024 Mar; 14(1):7572. PubMed ID: 38555393
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genotype-phenotype associations in Danish patients with ocular and oculocutaneous albinism.
    Kessel L; Kjer B; Lei U; Duno M; Grønskov K
    Ophthalmic Genet; 2021 Jun; 42(3):230-238. PubMed ID: 33612058
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Nystagmus and Foveal Hypoplasia in a Carrier of Oculocutaneous Albinism.
    Arora N; Hoyek S; Patel NA
    Ophthalmic Surg Lasers Imaging Retina; 2024 Jun; 55(6):349-353. PubMed ID: 38860972
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Evident hypopigmentation without other ocular deficits in Dutch patients with oculocutaneous albinism type 4.
    Kruijt CC; Schalij-Delfos NE; de Wit GC; Florijn RJ; van Genderen MM
    Sci Rep; 2021 Jun; 11(1):11572. PubMed ID: 34078970
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
    Kruijt CC; Gradstein L; Bergen AA; Florijn RJ; Arveiler B; Lasseaux E; Zanlonghi X; Bagdonaite-Bejarano L; Fulton AB; Yahalom C; Blumenfeld A; Perez Y; Birk OS; de Wit GC; Schalij-Delfos NE; van Genderen MM
    Invest Ophthalmol Vis Sci; 2022 Jan; 63(1):19. PubMed ID: 35029636
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diagnosis of oculocutaneous albinism with molecular analysis.
    Summers CG; Oetting WS; King RA
    Am J Ophthalmol; 1996 Jun; 121(6):724-6. PubMed ID: 8644824
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Management of albinism: French guidelines for diagnosis and care.
    Moreno-Artero E; Morice-Picard F; Bremond-Gignac D; Drumare-Bouvet I; Duncombe-Poulet C; Leclerc-Mercier S; Dufresne H; Kaplan J; Jouanne B; Arveiler B; Taieb A; Hadj-Rabia S
    J Eur Acad Dermatol Venereol; 2021 Jul; 35(7):1449-1459. PubMed ID: 34042219
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?
    Rocca C; Tiberi L; Bargiacchi S; Palazzo V; Landini S; Marziali E; Caputo R; Tinelli F; Marchi V; Benedetto A; Pagliazzi A; Bacci GM
    Int J Mol Sci; 2022 Jul; 23(14):. PubMed ID: 35887175
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Genetics of non-syndromic and syndromic oculocutaneous albinism in human and mouse.
    Fernández A; Hayashi M; Garrido G; Montero A; Guardia A; Suzuki T; Montoliu L
    Pigment Cell Melanoma Res; 2021 Jul; 34(4):786-799. PubMed ID: 33960688
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Oculocutaneous albinism: epidemiology, genetics, skin manifestation, and psychosocial issues.
    Ma EZ; Zhou AE; Hoegler KM; Khachemoune A
    Arch Dermatol Res; 2023 Mar; 315(2):107-116. PubMed ID: 35217926
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Current and emerging treatments for albinism.
    Liu S; Kuht HJ; Moon EH; Maconachie GDE; Thomas MG
    Surv Ophthalmol; 2021; 66(2):362-377. PubMed ID: 33129801
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Oculocutaneous albinism.
    Grønskov K; Ek J; Brondum-Nielsen K
    Orphanet J Rare Dis; 2007 Nov; 2():43. PubMed ID: 17980020
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-linked ocular albinism in Blacks. Ocular albinism cum pigmento.
    O'Donnell FE; Green WR; Fleischman JA; Hambrick GW
    Arch Ophthalmol; 1978 Jul; 96(7):1189-92. PubMed ID: 666626
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.