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
Leber Hereditary Optic Neuropathy: Support, Genetic Prediction and Accurate Genetic Counselling Enhance Family Planning Choices.
Kearns LS, Staffieri SE, Mackey DA.
Clin Exp Ophthalmol. 2025 Apr;53(3):292-301. doi: 10.1111/ceo.14493. Epub 2025 Feb 2.
PMID:39895156
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
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
Genetic Spectrum and Characteristics of Hereditary Optic Neuropathy in Taiwan.
Lin CW, Huang CW, Luo AC, Chou YT, Huang YS, Chen PL, Chen TC.
Genes (Basel). 2021 Aug 31;12(9):1378. doi: 10.3390/genes12091378.
PMID:34573359
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3