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 *

174 related articles for article (PubMed ID: 33504991)

  • 1. Clinical utility gene card for oculocutaneous (OCA) and ocular albinism (OA)-an update.
    Aamir A; Kuht HJ; Grønskov K; Brooks BP; Thomas MG
    Eur J Hum Genet; 2021 Oct; 29(10):1577-1583. PubMed ID: 33504991
    [No Abstract]   [Full Text] [Related]  

  • 2. Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
    Chan HW; Schiff ER; Tailor VK; Malka S; Neveu MM; Theodorou M; Moosajee M
    Genes (Basel); 2021 Mar; 12(4):. PubMed ID: 33808351
    [TBL] [Abstract][Full Text] [Related]  

  • 3. [Oculocutaneous and ocular albinism].
    Kubasch AS; Meurer M
    Hautarzt; 2017 Nov; 68(11):867-875. PubMed ID: 29018889
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).
    Norman CS; O'Gorman L; Gibson J; Pengelly RJ; Baralle D; Ratnayaka JA; Griffiths H; Rose-Zerilli M; Ranger M; Bunyan D; Lee H; Page R; Newall T; Shawkat F; Mattocks C; Ward D; Ennis S; Self JE
    Sci Rep; 2017 Jun; 7(1):4415. PubMed ID: 28667292
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical utility gene card for: Oculocutaneous albinism.
    Grønskov K; Brøndum-Nielsen K; Lorenz B; Preising MN
    Eur J Hum Genet; 2014 Aug; 22(8):. PubMed ID: 24518832
    [No Abstract]   [Full Text] [Related]  

  • 6. Albinism: an update.
    Orlow SJ
    Semin Cutan Med Surg; 1997 Mar; 16(1):24-9. PubMed ID: 9125762
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism.
    Renugadevi K; Sil AK; Perumalsamy V; Sundaresan P
    Mol Vis; 2010 Aug; 16():1514-24. PubMed ID: 20806075
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Making progress in albinism.
    Brooks BP
    J AAPOS; 2011 Feb; 15(1):1-2. PubMed ID: 21397796
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. Sequence analysis of tyrosinase gene in ocular and oculocutaneous albinism patients: introducing three novel mutations.
    Khordadpoor-Deilamani F; Akbari MT; Karimipoor M; Javadi G
    Mol Vis; 2015; 21():730-5. PubMed ID: 26167114
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. [Phenotype of the visual system in oculocutaneous and ocular albinism].
    Käsmann-Kellner B; Seitz B
    Ophthalmologe; 2007 Aug; 104(8):648-61. PubMed ID: 17684749
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism.
    Arcot Sadagopan K; Teng CH; Hui G; Lin DL
    Ophthalmic Genet; 2023 Feb; 44(1):54-69. PubMed ID: 36316991
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Albinism for the busy clinician.
    Levin AV; Stroh E
    J AAPOS; 2011 Feb; 15(1):59-66. PubMed ID: 21397808
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Albinism].
    Souied E; Cohen SY; Soubrane G; Coscas G
    J Fr Ophtalmol; 1994; 17(11):692-705. PubMed ID: 7722231
    [No Abstract]   [Full Text] [Related]  

  • 16. In silico analysis of miRNA-mediated gene regulation in OCA and OA genes.
    Kamaraj B; Gopalakrishnan C; Purohit R
    Cell Biochem Biophys; 2014 Dec; 70(3):1923-32. PubMed ID: 25060099
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
    Oetting WS; Pietsch J; Brott MJ; Savage S; Fryer JP; Summers CG; King RA
    Am J Med Genet A; 2009 Mar; 149A(3):466-9. PubMed ID: 19208379
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study.
    Kuht HJ; Maconachie GDE; Han J; Kessel L; van Genderen MM; McLean RJ; Hisaund M; Tu Z; Hertle RW; Gronskov K; Bai D; Wei A; Li W; Jiao Y; Smirnov V; Choi JH; Tobin MD; Sheth V; Purohit R; Dawar B; Girach A; Strul S; May L; Chen FK; Heath Jeffery RC; Aamir A; Sano R; Jin J; Brooks BP; Kohl S; Arveiler B; Montoliu L; Engle EC; Proudlock FA; Nishad G; Pani P; Varma G; Gottlob I; Thomas MG
    Ophthalmology; 2022 Jun; 129(6):708-718. PubMed ID: 35157951
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Diagnostic Yield of Genetic Testing for Ocular and Oculocutaneous Albinism in a Diverse United States Pediatric Population.
    Chan KS; Bohnsack BL; Ing A; Drackley A; Castelluccio V; Zhang KX; Ralay-Ranaivo H; Rossen JL
    Genes (Basel); 2023 Jan; 14(1):. PubMed ID: 36672876
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.