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 Ⅰ 相关文献:
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K.
Orphanet J Rare Dis. 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43.
PMID:17980020
Oculocutaneous Albinism Type 4.
Suzuki T, Okamura K.
2005 Nov 17 [updated 2026 Feb 12]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301683
Oculocutaneous albinism type 1: the last 100 years.
Oetting WS, Fryer JP, Shriram S, King RA.
Pigment Cell Res. 2003 Jun;16(3):307-11. doi: 10.1034/j.1600-0749.2003.00045.x.
PMID:12753405
Compound heterozygosity in type-II oculocutaneous albinism.
Doshi S, Sawarthia S, Hegde SS, Sardesai VR.
Indian J Dermatol Venereol Leprol. 2025 Mar 28:1-3. doi: 10.25259/IJDVL_1121_2024. Online ahead of print.
PMID:40357958
[Oculocutaneous and ocular albinism].
Kubasch AS, Meurer M.
Hautarzt. 2017 Nov;68(11):867-875. doi: 10.1007/s00105-017-4061-x.
PMID:29018889
Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case.
He D, Liu X, Yao T, Hu J, Zheng X, Tang L, Fan X.
Mol Genet Genomic Med. 2024 Feb;12(2):e2385. doi: 10.1002/mgg3.2385.
PMID:38337174
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 30;14(1):7572. doi: 10.1038/s41598-024-57969-0.
PMID:38555393
Generation and ophthalmological characterization of oculocutaneous albinism type 1 pig models by selection-free genome editing.
Oh D, Seok C, Park HW, Park S, Lee J, Choi H, Jawad A, Ham J, Jang H, Lee SC, Oh BC, Moon C, Park KH, Hyun SH, Kim D.
Sci Rep. 2025 Dec 24;15(1):44564. doi: 10.1038/s41598-025-28385-9.
PMID:41444327
Oculocutaneous Albinism Type 2 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY.
Lewis RA.
2003 Jul 17 [updated 2012 Aug 16]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301410
Tyrp1 and oculocutaneous albinism type 3.
Sarangarajan R, Boissy RE.
Pigment Cell Res. 2001 Dec;14(6):437-44. doi: 10.1034/j.1600-0749.2001.140603.x.
PMID:11775055
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3