321 related articles for article (PubMed ID: 1416662)
1. [Oculocutaneous albinism].
Lacour JP; Ortonne JP
Ann Pediatr (Paris); 1992 Sep; 39(7):409-18. PubMed ID: 1416662
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [Human oculocutaneous albinism. From clinical observation to molecular biology].
Aquaron R
Bull Soc Pathol Exot; 1993; 86(5):313-26. PubMed ID: 8124097
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [Oculocutaneous and ocular albinism].
Kubasch AS; Meurer M
Hautarzt; 2017 Nov; 68(11):867-875. PubMed ID: 29018889
[TBL] [Abstract][Full Text] [Related]
6. Albinism and its implications with vision.
Kirkwood BJ
Insight; 2009; 34(2):13-6. PubMed ID: 19534229
[TBL] [Abstract][Full Text] [Related]
7. Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS; King RA
Hum Mutat; 1999; 13(2):99-115. PubMed ID: 10094567
[TBL] [Abstract][Full Text] [Related]
8. [Genetics of oculocutaneous albinism].
Zühlke C; Stell A; Käsmann-Kellner B
Ophthalmologe; 2007 Aug; 104(8):674-80. PubMed ID: 17646993
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.
Ishaq M; Niazi MK; Khan MS; Nadeem Y
J Coll Physicians Surg Pak; 2015 Apr; 25 Suppl 1():S43-4. PubMed ID: 25933462
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
Schreyer-Shafir N; Huizing M; Anikster Y; Nusinker Z; Bejarano-Achache I; Maftzir G; Resnik L; Helip-Wooley A; Westbroek W; Gradstein L; Rosenmann A; Blumenfeld A
Hum Mutat; 2006 Nov; 27(11):1158. PubMed ID: 17041891
[TBL] [Abstract][Full Text] [Related]
13. Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene.
Oetting WS; King RA
Hum Mutat; 1993; 2(1):1-6. PubMed ID: 8477259
[TBL] [Abstract][Full Text] [Related]
14. Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
Ullah MI
Genes (Basel); 2022 Jun; 13(6):. PubMed ID: 35741834
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Might the refractive state in oculocutaneous albino patients be a clue for distinguishing between tyrosinase-positive and tyrosinase-negative forms of oculocutaneous albinism?
Käsmann B; Ruprecht KW
Ger J Ophthalmol; 1996 Nov; 5(6):422-7. PubMed ID: 9479530
[TBL] [Abstract][Full Text] [Related]
18. Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome?
Kotzot D; Richter K; Gierth-Fiebig K
Am J Med Genet; 1994 Apr; 50(3):224-7. PubMed ID: 8042664
[TBL] [Abstract][Full Text] [Related]
19. Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism.
King RA; Mentink MM; Oetting WS
Mol Biol Med; 1991 Feb; 8(1):19-29. PubMed ID: 1943686
[TBL] [Abstract][Full Text] [Related]
20. Mutation analysis of the tyrosinase gene in oculocutaneous albinism.
Camand O; Marchant D; Boutboul S; Péquignot M; Odent S; Dollfus H; Sutherland J; Levin A; Menasche M; Marsac C; Dufier JL; Heon E; Abitbol M
Hum Mutat; 2001 Apr; 17(4):352. PubMed ID: 11295837
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]