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Year Number of Results
1947 1
1948 1
1952 1
1982 1
1983 1
1984 3
1985 1
1986 2
1989 3
1990 1
1992 1
1993 2
1994 2
1995 3
1996 1
1997 6
1998 10
1999 6
2000 2
2001 7
2002 5
2003 1
2004 5
2005 7
2006 7
2007 8
2008 4
2009 4
2010 21
2011 10
2012 12
2013 16
2014 11
2015 6
2016 11
2017 5
2018 8
2019 3
2020 10
2021 7
2022 11
2023 6
2024 4

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214 results

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Page 1
Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.
Karali M, García-García G, Kaminska K, AlTalbishi A, Cancellieri F, Testa F, Barillari MR, Panagiotou ES, Psillas G, Vaclavik V, Tran VH, Janeschitz-Kriegl L, Scholl HP, Salameh M, Barberán-Martínez P, Rodríguez-Muñoz A, Armengot M, Scarpato M, Zeuli R, Quinodoz M, Simonelli F, Rivolta C, Banfi S, Millán JM. Karali M, et al. Among authors: millan jm. Eur J Hum Genet. 2024 Dec 13. doi: 10.1038/s41431-024-01768-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39672920
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome.
García-Bohórquez B, Barberán-Martínez P, Aller E, Jaijo T, Mínguez P, Rodilla C, Fernández-Caballero L, Blanco-Kelly F, Ayuso C, Sanchis-Juan A, Broekman S, de Vrieze E, van Wijk E, García-García G, Millán JM. García-Bohórquez B, et al. Among authors: millan jm. Mol Ther Nucleic Acids. 2024 Oct 28;35(4):102374. doi: 10.1016/j.omtn.2024.102374. eCollection 2024 Dec 10. Mol Ther Nucleic Acids. 2024. PMID: 39629117 Free PMC article.
STUB1 Mutations as Possible Genetic Modifiers in Spinocerebellar Ataxia Type 8.
Baviera-Muñoz R, Carretero-Vilarroig L, Pedro-Ibor A, Jaijo T, Del Valle-Carranza A, Martínez-Torres I, Millán JM, Bataller L, Aller E. Baviera-Muñoz R, et al. Among authors: millan jm. Mov Disord. 2024 Sep;39(9):1641-1644. doi: 10.1002/mds.29910. Epub 2024 Jul 4. Mov Disord. 2024. PMID: 38962894
Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype.
Esteve-Garcia A, Cobos E, Sau C, Padró-Miquel A, Català-Mora J, Barberán-Martínez P, Millán JM, García-García G, Aguilera C. Esteve-Garcia A, et al. Among authors: millan jm. Front Genet. 2024 Feb 21;15:1352063. doi: 10.3389/fgene.2024.1352063. eCollection 2024. Front Genet. 2024. PMID: 38450199 Free PMC article.
Editorial: Inherited retinal dystrophies: a light at the end of the tunnel?
Perkins BD, Lobo GP, Kondkar AA, Millan JM. Perkins BD, et al. Among authors: millan jm. Front Cell Dev Biol. 2023 Oct 4;11:1301279. doi: 10.3389/fcell.2023.1301279. eCollection 2023. Front Cell Dev Biol. 2023. PMID: 37860821 Free PMC article. No abstract available.
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: millan jm. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.
González-Romero E, Martínez-Valiente C, García-García G, Rosal-Vela A, Millán JM, Sanz MÁ, Sanz G, Liquori A, Cervera JV, Vázquez-Manrique RP. González-Romero E, et al. Among authors: millan jm. Cancers (Basel). 2023 Aug 25;15(17):4263. doi: 10.3390/cancers15174263. Cancers (Basel). 2023. PMID: 37686539 Free PMC article.
Redox Status in Retinitis Pigmentosa.
Olivares-González L, Velasco S, Campillo I, Millán JM, Rodrigo R. Olivares-González L, et al. Among authors: millan jm. Adv Exp Med Biol. 2023;1415:443-448. doi: 10.1007/978-3-031-27681-1_65. Adv Exp Med Biol. 2023. PMID: 37440070 Review.
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
Baviera-Muñoz R, Carretero-Vilarroig L, Muelas N, Sivera R, Sopena-Novales P, Martínez-Sanchis B, Sastre-Bataller I, Campins-Romeu M, Martínez-Torres I, García-Verdugo JM, Millán JM, Jaijo T, Aller E, Bataller L. Baviera-Muñoz R, et al. Among authors: millan jm. Mov Disord Clin Pract. 2023 May 5;10(6):992-997. doi: 10.1002/mdc3.13740. eCollection 2023 Jun. Mov Disord Clin Pract. 2023. PMID: 37332636 Free PMC article.
Changes in lipid metabolism driven by steroid signalling modulate proteostasis in C. elegans.
Gómez-Escribano AP, Mora-Martínez C, Roca M, Walker DS, Panadero J, Sequedo MD, Saini R, Knölker HJ, Blanca J, Burguera J, Lahoz A, Cañizares J, Millán JM, Burton NO, Schafer WR, Vázquez-Manrique RP. Gómez-Escribano AP, et al. Among authors: millan jm. EMBO Rep. 2023 Jun 5;24(6):e55556. doi: 10.15252/embr.202255556. Epub 2023 Apr 27. EMBO Rep. 2023. PMID: 37103980 Free PMC article.
214 results