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48 results

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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: calzetti g. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Quinodoz M, Rodenburg K, Cvackova Z, Kaminska K, de Bruijn SE, Iglesias-Romero AB, Boonen EGM, Ullah M, Zomer N, Folcher M, Bijon J, Holtes LK, Tsang SH, Corradi Z, Freund KB, Shliaga S, Panneman DM, Hitti-Malin RJ, Ali M, AlTalbishi A, Andréasson S, Ansari G, Arno G, Astuti GDN, Ayuso C, Ayyagari R, Banfi S, Banin E, Barboni MTS, Bauwens M, Ben-Yosef T, Birch DG, Biswas P, Blanco-Kelly F, Bocquet B, Boon CJF, Branham K, Britten-Jones AC, Bujakowska KM, Cadena EL, Calzetti G, Cancellieri F, Cattaneo L, Issa PC, Chadderton N, Coutinho-Santos L, Daiger SP, De Baere E, de la Cerda B, De Roach JN, De Zaeytijd J, Derks R, Dhaenens CM, Dudakova L, Duncan JL, Farrar GJ, Feltgen N, Fernández-Caballero L, Sallum JMF, Gana S, Garanto A, Gardner JC, Gilissen C, Goto K, Gonzàlez-Duarte R, Griffiths-Jones S, Haack TB, Haer-Wigman L, Hardcastle AJ, Hayashi T, Héon E, Hoischen A, Holtan JP, Hoyng CB, Ibanez MBB 4th, Inglehearn CF, Iwata T, Jones K, Kalatzis V, Kamakari S, Karali M, Kellner U, Knézy K, Klaver CCW, Koenekoop RK, Kohl S, Kominami T, Kühlewein L, Lamey TM, Leroy BP, Martín-Gutiérrez MP, Martins N, Mauring L, Leibu R, Lin S, Liskova P, Lopez I, López-Rodríguez VRJ, Mahroo OA, … See abstract for full author list ➔ Quinodoz M, et al. Among authors: calzetti g. medRxiv [Preprint]. 2025 Jan 6:2025.01.06.24317169. doi: 10.1101/2025.01.06.24317169. medRxiv. 2025. PMID: 39830270 Free PMC article. Preprint.
Loss-of-function variants in UBAP1L cause autosomal recessive retinal degeneration.
Han JH, Rodenburg K, Hayman T, Calzetti G, Kaminska K, Quinodoz M, Marra M, Wallerich S, Allon G, Nagy ZZ, Knézy K, Li Y, Chen R, Barboni MTS, Yang P, Pennesi ME, van den Born LI, Varsányi B, Szabó V, Sharon D, Banin E, Ben-Yosef T, Roosing S, Koenekoop RK, Rivolta C. Han JH, et al. Among authors: calzetti g. Genet Med. 2024 Jun;26(6):101106. doi: 10.1016/j.gim.2024.101106. Epub 2024 Feb 28. Genet Med. 2024. PMID: 38420906 Free article.
Neuroprotection beyond intraocular pressure: game changer or quiet addiction.
Grosso A, Borrelli E, Sacchi M, Calzetti G, Ceruti P, Neri G, Marchetti M, Pinna A, Kostin V, Reibaldi M, Borsello T, Vizzeri G. Grosso A, et al. Among authors: calzetti g. Graefes Arch Clin Exp Ophthalmol. 2025 Jul;263(7):1755-1763. doi: 10.1007/s00417-025-06816-7. Epub 2025 Apr 5. Graefes Arch Clin Exp Ophthalmol. 2025. PMID: 40188286 Review.
Retinal oxygen metabolic function in choroideremia and retinitis pigmentosa.
Prétot D, Della Volpe Waizel M, Kaminska K, Valmaggia P, Placidi G, Falsini B, Fries FN, Szentmáry N, Rivolta C, Scholl HPN, Calzetti G. Prétot D, et al. Among authors: calzetti g. Graefes Arch Clin Exp Ophthalmol. 2025 Feb;263(2):379-385. doi: 10.1007/s00417-024-06659-8. Epub 2024 Oct 12. Graefes Arch Clin Exp Ophthalmol. 2025. PMID: 39394491 Free PMC article.
Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.
Calzetti G, Schwarzwälder K, Ottonelli G, Kaminska K, Strauss RW, Baere E, Leroy BP, Audo I, Zeitz C, Cursiefen C, Stingl K, Boon CJF, Marques JP, Santos C, Ayuso Garcia C, Escher P, Cordeiro MF, D'Esposito F, Charbel Issa P, Lotery A, Lin S, Michaelides M, Rivolta C, Scholl HPN. Calzetti G, et al. Ophthalmic Res. 2024;67(1):448-457. doi: 10.1159/000540607. Epub 2024 Jul 30. Ophthalmic Res. 2024. PMID: 39079514 Free article.
A Unique Presentation of Bilateral Chorioretinal Atrophy.
Grosso A, Yannuzzi LA, Tsang SH, Ceruti P, Sarraf D, Zamir E, Kaminska K, Quinodoz M, Amoroso A, Deaglio S, Francis JH, Fioretto M, Rivolta C, Calzetti G. Grosso A, et al. Among authors: calzetti g. Asia Pac J Ophthalmol (Phila). 2023 Sep-Oct 01;12(5):500-501. doi: 10.1097/APO.0000000000000563. Epub 2022 Oct 28. Asia Pac J Ophthalmol (Phila). 2023. PMID: 36650090 Free article. No abstract available.
The epidemiology of Moebius syndrome in Italy.
Carta A, Favilla S, Calzetti G, Casalini MC, Ferrari PF, Bianchi B, Simonelli MB, Farci R, Gandolfi S, Mora P. Carta A, et al. Among authors: calzetti g. Orphanet J Rare Dis. 2021 Apr 7;16(1):162. doi: 10.1186/s13023-021-01808-2. Orphanet J Rare Dis. 2021. PMID: 33827605 Free PMC article.
A new nonsense mutation in HMX1 in two siblings with oculoauricular syndrome.
Ansar M, Javed S, Baig HMA, Quinodoz M, Ullah M, Han JH, Rahim MU, Kausar H, Calzetti G, Rivolta C. Ansar M, et al. Among authors: calzetti g. Ophthalmic Genet. 2022 Oct;43(5):720-723. doi: 10.1080/13816810.2022.2096242. Epub 2022 Aug 10. Ophthalmic Genet. 2022. PMID: 35946463 Free article. No abstract available.
48 results