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

Year Number of Results
1992 1
1993 1
1994 1
1996 1
1997 3
1998 3
1999 1
2000 2
2001 3
2002 4
2003 1
2004 1
2007 2
2008 1
2009 3
2010 2
2011 1
2012 1
2013 3
2014 5
2015 2
2016 3
2017 3
2018 10
2019 8
2020 3
2021 7
2022 6
2023 4
2024 0

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77 results

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Page 1
TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. Among authors: kalatzis v. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
Branchio-Oto-Renal syndrome.
Kalatzis V, Petit C. Kalatzis V, et al. Adv Otorhinolaryngol. 2000;56:39-44. doi: 10.1159/000059081. Adv Otorhinolaryngol. 2000. PMID: 10868212 Review. No abstract available.
SpliceAI-visual: a free online tool to improve SpliceAI splicing variant interpretation.
de Sainte Agathe JM, Filser M, Isidor B, Besnard T, Gueguen P, Perrin A, Van Goethem C, Verebi C, Masingue M, Rendu J, Cossée M, Bergougnoux A, Frobert L, Buratti J, Lejeune É, Le Guern É, Pasquier F, Clot F, Kalatzis V, Roux AF, Cogné B, Baux D. de Sainte Agathe JM, et al. Among authors: kalatzis v. Hum Genomics. 2023 Feb 10;17(1):7. doi: 10.1186/s40246-023-00451-1. Hum Genomics. 2023. PMID: 36765386 Free PMC article. Review.
USH2A variants causing retinitis pigmentosa or Usher syndrome provoke differential retinal phenotypes in disease-specific organoids.
Sanjurjo-Soriano C, Jimenez-Medina C, Erkilic N, Cappellino L, Lefevre A, Nagel-Wolfrum K, Wolfrum U, Van Wijk E, Roux AF, Meunier I, Kalatzis V. Sanjurjo-Soriano C, et al. Among authors: kalatzis v. HGG Adv. 2023 Aug 7;4(4):100229. doi: 10.1016/j.xhgg.2023.100229. eCollection 2023 Oct 12. HGG Adv. 2023. PMID: 37654703 Free PMC article.
Cystinosis: from gene to disease.
Kalatzis V, Antignac C. Kalatzis V, et al. Nephrol Dial Transplant. 2002 Nov;17(11):1883-6. doi: 10.1093/ndt/17.11.1883. Nephrol Dial Transplant. 2002. PMID: 12401840 Review. No abstract available.
Choroideremia: towards a therapy.
Kalatzis V, Hamel CP, MacDonald IM; First International Choroideremia Research Symposium. Kalatzis V, et al. Am J Ophthalmol. 2013 Sep;156(3):433-437.e3. doi: 10.1016/j.ajo.2013.05.009. Epub 2013 Jun 28. Am J Ophthalmol. 2013. PMID: 23810476
New aspects of the pathogenesis of cystinosis.
Kalatzis V, Antignac C. Kalatzis V, et al. Pediatr Nephrol. 2003 Mar;18(3):207-15. doi: 10.1007/s00467-003-1077-5. Epub 2003 Feb 27. Pediatr Nephrol. 2003. PMID: 12644911 Review.
77 results