首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
Pubmed相关的文献
oculocutaneous albinism type V相关文献:
Refractive development in individuals with ocular and oculocutaneous albinism.
Verkicharla P, Thakur S, Kammari P, Dhakal R, Das AV.
Int Ophthalmol. 2022 Jul;42(7):2007-2015. doi: 10.1007/s10792-021-02165-6. Epub 2022 May 19.
PMID:35587842
Pleiotropic effects of coat colour-associated mutations in humans, mice and other mammals.
Reissmann M, Ludwig A.
Semin Cell Dev Biol. 2013 Jun-Jul;24(6-7):576-86. doi: 10.1016/j.semcdb.2013.03.014. Epub 2013 Apr 9.
PMID:23583561
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH, Korobelnik JF, Delyfer MN, Michaud V, Arveiler B, Lasseaux E, Gattoussi S, Rougier MB, Trin K, Morice-Picard F, Ghomashchi N, Coste V.
Invest Ophthalmol Vis Sci. 2023 Sep 1;64(12):26. doi: 10.1167/iovs.64.12.26.
PMID:37707835
[Heterochromia iridum in a case of partial type 2 oculocutaneous albinism: Case report].
Moutamani S, Boutaj T, Ennejjar A, Amazouzi A, Cherkaoui O.
J Fr Ophtalmol. 2022 Oct;45(8):977-979. doi: 10.1016/j.jfo.2022.04.005. Epub 2022 Jun 16.
PMID:35718569
Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20).
van Dorp DB.
Clin Genet. 1987 Apr;31(4):228-42. doi: 10.1111/j.1399-0004.1987.tb02801.x.
PMID:3109790
Chiasmal Decussation in Oculo-Cutaneous Albinism Type 8.
Rateaux M, Hadj-Rabia S, Barrois R, Zambrowski O, Michaud V, Moreno-Artero E, Bremond-Gignac D, Javerzat S, Robert MP.
Invest Ophthalmol Vis Sci. 2025 Feb 3;66(2):44. doi: 10.1167/iovs.66.2.44.
PMID:39951296
Detection of two non-synonymous SNPs in SLC45A2 on BTA20 as candidate causal mutations for oculocutaneous albinism in Braunvieh cattle.
Rothammer S, Kunz E, Seichter D, Krebs S, Wassertheurer M, Fries R, Brem G, Medugorac I.
Genet Sel Evol. 2017 Oct 5;49(1):73. doi: 10.1186/s12711-017-0349-7.
PMID:28982372
Altered Functional Responses of the Retina in B6 Albino Tyrc/c Mice.
Chotard V, Trapani F, Glaziou G, Sermet BS, Yger P, Marre O, Rebsam A.
Invest Ophthalmol Vis Sci. 2024 Aug 1;65(10):39. doi: 10.1167/iovs.65.10.39.
PMID:39189994
A closer look at evolution: Variants (SNPs) of genes involved in skin pigmentation, including EXOC2, TYR, TYRP1, and DCT, are associated with 25(OH)D serum concentration.
Saternus R, Pilz S, Gräber S, Kleber M, März W, Vogt T, Reichrath J.
Endocrinology. 2015 Jan;156(1):39-47. doi: 10.1210/en.2014-1238.
PMID:25396269
A genome-wide scan study identifies a single nucleotide substitution in the tyrosinase gene associated with white coat colour in a red deer (Cervus elaphus) population.
Reiner G, Tramberend K, Nietfeld F, Volmer K, Wurmser C, Fries R, Willems H.
BMC Genet. 2020 Feb 10;21(1):14. doi: 10.1186/s12863-020-0814-0.
PMID:32041521
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3