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 *

207 related articles for article (PubMed ID: 7722231)

  • 1. [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]  

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

  • 3. 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]  

  • 4. Oculocutaneous albinism type 1A: a case report.
    Karaman A
    Dermatol Online J; 2008 Nov; 14(11):13. PubMed ID: 19094851
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 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. Albinism and the associated ocular defects.
    Oetting WS; Summers CG; King RA
    Metab Pediatr Syst Ophthalmol (1985); 1994; 17(1-4):5-9. PubMed ID: 8719278
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel human pathological mutations. Gene symbol: TYR. Disease: albinism, oculocutaneous 1.
    Ray K; Chaki M; Sengupta M
    Hum Genet; 2007 Dec; 122(5):555. PubMed ID: 18383608
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1).
    Spritz RA; Oh J; Fukai K; Holmes SA; Ho L; Chitayat D; France TD; Musarella MA; Orlow SJ; Schnur RE; Weleber RG; Levin AV
    Hum Mutat; 1997; 10(2):171-4. PubMed ID: 9259202
    [No Abstract]   [Full Text] [Related]  

  • 11. [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]  

  • 12. [Oculocutaneous albinism 1B associated with a new mutation in the TYR gene].
    Vidal-Ríos P; Fernández-Seara MJ; Cortés E; Hurtado L; Couce ML
    An Pediatr (Barc); 2013 May; 78(5):339-40. PubMed ID: 23085315
    [No Abstract]   [Full Text] [Related]  

  • 13. Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects.
    Rooryck C; Morice-Picard F; Elçioglu NH; Lacombe D; Taieb A; Arveiler B
    Pigment Cell Melanoma Res; 2008 Oct; 21(5):583-7. PubMed ID: 18821858
    [No Abstract]   [Full Text] [Related]  

  • 14. [Prenatal gene diagnosis of oculocutaneous albinism type I].
    Li HY; Wu WI; Zheng H; Duan HL; Chen Z; Chen LM
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):280-2. PubMed ID: 16767664
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Temperature sensitive oculocutaneous albinism associated with missense changes in the tyrosinase gene.
    Wang T; Waters CT; Jakins T; Yates JR; Trump D; Bradshaw K; Moore AT
    Br J Ophthalmol; 2005 Oct; 89(10):1383-4. PubMed ID: 16170149
    [No Abstract]   [Full Text] [Related]  

  • 16. Genotype analysis in a patient with oculocutaneous albinism 1 minimal pigment type.
    Kono M; Kondo T; Ito S; Suzuki T; Wakamatsu K; Ito S; Tomita Y
    Br J Dermatol; 2012 Apr; 166(4):896-8. PubMed ID: 21985232
    [No Abstract]   [Full Text] [Related]  

  • 17. [New nonsense mutation (p.E250X) in the tyrosinase gene of a patient with oculocutaneous albinism type 1A].
    Aquaron R; Hesse S; Badens C; Bonerandi JJ
    Ann Dermatol Venereol; 2009 Jan; 136(1):57-9. PubMed ID: 19171234
    [No Abstract]   [Full Text] [Related]  

  • 18. Gene symbol: TYR. Disease: Albinism, oculocutaneous 1.
    Patrosso MC; Lando G; Penco S
    Hum Genet; 2008 Oct; 124(3):294. PubMed ID: 18846608
    [No Abstract]   [Full Text] [Related]  

  • 19. Four novel mutations of TYR gene in Chinese OCA1 patients.
    Wang Y; Guo X; Li W; Lian S
    J Dermatol Sci; 2009 Jan; 53(1):80-1. PubMed ID: 18701257
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 11.