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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2006 3
2013 1
2014 1
2015 1
2016 1
2017 1
2018 2
2019 4
2020 3
2021 9
2022 11
2023 8
2024 4

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47 results

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Page 1
Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.
Brock V, Wissocq A, Geoffre N, Marks C, Canel V, Huin V, Smirnov VM. Brock V, et al. Among authors: smirnov vm. Eur J Ophthalmol. 2024 Apr 13:11206721241247418. doi: 10.1177/11206721241247418. Online ahead of print. Eur J Ophthalmol. 2024. PMID: 38613257
Variants in UBAP1L lead to autosomal recessive rod-cone and cone-rod dystrophy.
Zeitz C, Navarro J, Azizzadeh Pormehr L, Méjécase C, Neves LM, Letellier C, Condroyer C, Albadri S, Amprou A, Antonio A, Ben-Yacoub T, Wohlschlegel J, Andrieu C, Serafini M, Bianco L, Antropoli A, Nassisi M, El Shamieh S, Chantot-Bastaraud S, Mohand-Saïd S, Smirnov V, Sahel JA, Del Bene F, Audo I. Zeitz C, et al. Among authors: smirnov v. Genet Med. 2024 Jan 28:101081. doi: 10.1016/j.gim.2024.101081. Online ahead of print. Genet Med. 2024. PMID: 38293907 Free article.
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology.
Vaclavik V, Navarro A, Jacot-Guillarmod A, Bottani A, Sun YJ, Franco JA, Mahajan VB, Smirnov V, Bouvet-Drumare I. Vaclavik V, et al. Among authors: smirnov v. Graefes Arch Clin Exp Ophthalmol. 2024 Jan 11. doi: 10.1007/s00417-023-06345-1. Online ahead of print. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38206414
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
Geada S, Teixeira-Marques F, Teixeira B, Carvalho AL, Lousan N, Saraiva J, Murta J, Silva R, Zanlonghi X, Defoort-Dhellemmes S, Smirnov V, Dhaenens CM, Blanchet C, Meunier I, Marques JP. Geada S, et al. Among authors: smirnov v. Genes (Basel). 2023 Mar 30;14(4):830. doi: 10.3390/genes14040830. Genes (Basel). 2023. PMID: 37107588 Free PMC article.
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Caron V, Chassaing N, Ragge N, Boschann F, Ngu AM, Meloche E, Chorfi S, Lakhani SA, Ji W, Steiner L, Marcadier J, Jansen PR, van de Pol LA, van Hagen JM, Russi AS, Le Guyader G, Nordenskjöld M, Nordgren A, Anderlid BM, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan FF, Lefebvre M, Attie-Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont ML, Grotto S, Alcantud A, Coret A, Ferrer-Avargues R, Srivastava S, Vincent-Delorme C, Romoser S, Safina N, Saade D, Lupski JR, Calame DG, Geneviève D, Chatron N, Schluth-Bolard C, Myers KA, Dobyns WB, Calvas P; DDD Study; Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin DM, Tremblay A, Michaud JL. Caron V, et al. Among authors: smirnov v. Genet Med. 2023 Aug;25(8):100856. doi: 10.1016/j.gim.2023.100856. Epub 2023 Apr 20. Genet Med. 2023. PMID: 37092537 Free article.
47 results