PubMed for id: 41933

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Results by year

Year	Number of Results
1991	2
1992	1
1993	1
1996	1
1997	2
2000	1
2002	1
2003	1
2006	1
2007	1
2009	3
2010	120
2011	599
2012	705
2013	718
2014	737
2015	699
2016	687
2017	707
2018	788
2019	788
2020	891
2021	967
2022	984
2023	677
2024	2

8,711 results

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Page 1

[Gene therapy for hereditary eye diseases].

Kessel L, Bertelsen M, Klemp K, Christensen UC. Kessel L, et al. Ugeskr Laeger. 2022 Nov 7;184(45):V07220453. Ugeskr Laeger. 2022. PMID: 36345897 Free article. Danish.

A multicenter retrospective evaluation of the prevalence of known and presumed hereditary eye diseases in Lagotto Romagnolo dog breed within a referral population in Italy (2012-2020).

Crasta M, Arteaga K, Barachetti L, Guandalini A. Crasta M, et al. Vet Ophthalmol. 2022 Nov;25(6):426-433. doi: 10.1111/vop.13020. Epub 2022 Aug 17. Vet Ophthalmol. 2022. PMID: 35976615

The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing.

Skorczyk-Werner A, Raczynska D, Wawrocka A, Zholdybayeva D, Yakhiyayeva N, Krawczynski MR. Skorczyk-Werner A, et al. Intractable Rare Dis Res. 2021 Aug;10(3):202-206. doi: 10.5582/irdr.2021.01042. Intractable Rare Dis Res. 2021. PMID: 34466343 Free PMC article.

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P, Li S, Sun W, Xiao X, Jia X, Liu M, Xu L, Long Y, Zhang Q. Wang P, et al. Transl Vis Sci Technol. 2019 Apr 25;8(2):21. doi: 10.1167/tvst.8.2.21. eCollection 2019 Mar. Transl Vis Sci Technol. 2019. PMID: 31106028 Free PMC article.

[The research advances and applications of genome editing in hereditary eye diseases].

Cai SW, Zhang Y, Hou MZ, Liu Y, Li XR. Cai SW, et al. Zhonghua Yan Ke Za Zhi. 2017 May 11;53(5):386-391. doi: 10.3760/cma.j.issn.0412-4081.2017.05.014. Zhonghua Yan Ke Za Zhi. 2017. PMID: 28494568 Review. Chinese.

[Gene therapy for hereditary eye diseases: where are we?].

Viet Tran H, Schorderet DF, Kostic C, Munier FL, Arsenijevic Y. Viet Tran H, et al. Rev Med Suisse. 2009 Jan 14;5(186):118-23. Rev Med Suisse. 2009. PMID: 19238930 French.

[Changing perception of hereditary eye diseases].

Plomp AS, Bergen AA, Hulsman CA, de Jong PT. Plomp AS, et al. Ned Tijdschr Geneeskd. 2002 Feb 23;146(8):345-50. Ned Tijdschr Geneeskd. 2002. PMID: 11887617 Dutch.

Molecular elucidation of hereditary eye diseases: pivotal role of the clinician.

Ropers HH. Ropers HH. Ophthalmic Res. 1997;29(5):252-60. doi: 10.1159/000268023. Ophthalmic Res. 1997. PMID: 9323716 Review.

[Hereditary eye diseases--diagnosis, therapy and prevention].

Stades FC. Stades FC. Tijdschr Diergeneeskd. 1991 Sep 15;116(18):889-97. Tijdschr Diergeneeskd. 1991. PMID: 1926109 Dutch.

Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).

Cruz-Aguilar M, Guerrero-de Ferran C, Tovilla-Canales JL, Nava-Castañeda A, Zenteno JC. Cruz-Aguilar M, et al. J Investig Med. 2017 Mar;65(3):705-708. doi: 10.1136/jim-2016-000184. Epub 2016 Dec 15. J Investig Med. 2017. PMID: 27980005

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8,711 results

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