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
family hereditary optic atrophy相关文献:
[Hereditary Optic Neuropathies].
Rüther K.
Klin Monbl Augenheilkd. 2018 Jun;235(6):747-763. doi: 10.1055/a-0583-6290. Epub 2018 Feb 28.
PMID:29490390
Hereditary optic neuropathies.
Newman NJ, Biousse V.
Eye (Lond). 2004 Nov;18(11):1144-60. doi: 10.1038/sj.eye.6701591.
PMID:15534600
Hereditary optic neuropathies.
Biousse V, Newman NJ.
Ophthalmol Clin North Am. 2001 Sep;14(3):547-68. doi: 10.1016/s0896-1549(05)70252-2.
PMID:11705154
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D.
Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46.
PMID:22776096
Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.
Petrović Pajić S, Suštar Habjan M, Brecelj J, Fakin A, Volk M, Maver A, Jezernik G, Peterlin B, Glavač D, Hawlina M, Jarc-Vidmar M.
J Neuroophthalmol. 2023 Sep 1;43(3):341-347. doi: 10.1097/WNO.0000000000001820. Epub 2023 Mar 10.
PMID:36897664
Family and genetic counseling in Leber hereditary optic neuropathy.
Mackey DA, Staffieri SE, Lopez Sanchez MIG, Kearns LS.
Ophthalmic Genet. 2025 Apr;46(2):101-109. doi: 10.1080/13816810.2025.2451175. Epub 2025 Jan 20.
PMID:39833125
Leber Hereditary Optic Neuropathy-Light at the End of the Tunnel?
Kim US, Jurkute N, Yu-Wai-Man P.
Asia Pac J Ophthalmol (Phila). 2018 Jul-Aug;7(4):242-245. doi: 10.22608/APO.2018293. Epub 2018 Jul 15.
PMID:30008192
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y, Wang P, Li S, Long Y, Jiang Y, Guo D, Jia X, Liu M, Zeng Y, Xiao X, Hejtmancik JF, Zhang Q, Sun W.
Brain. 2025 May 13;148(5):1604-1620. doi: 10.1093/brain/awae324.
PMID:39423307
Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene.
Vandeputte J, Van Heetvelde M, Van Cauwenbergh C, Seneca S, De Baere E, Leroy BP, De Zaeytijd J.
Ophthalmic Genet. 2021 Aug;42(4):440-445. doi: 10.1080/13816810.2021.1913611. Epub 2021 Apr 16.
PMID:33858285
Mitochondrial tRNA(Glu) 14693A > G Mutation, an "Enhancer" to the Phenotypic Expression of Leber's Hereditary Optic Neuropathy.
Jin L, Gan D, He W, Wu N, Xiang S, Wei Y, Eriani G, Ji Y, Guan MX, Wang M.
Adv Sci (Weinh). 2024 Nov;11(41):e2401856. doi: 10.1002/advs.202401856. Epub 2024 Sep 12.
PMID:39264244
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3