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Year Number of Results
1989 1
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1994 2
1995 5
1996 4
1997 1
1998 7
1999 4
2000 2
2001 2
2002 3
2003 3
2004 4
2005 3
2006 6
2007 3
2008 3
2009 2
2010 2
2011 4
2012 4
2013 6
2014 2
2015 5
2016 3
2017 6
2018 4
2019 4
2020 9
2021 10
2022 11
2023 7
2024 5
2025 4

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128 results

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Page 1
Microglia maintain structural integrity during fetal brain morphogenesis.
Lawrence AR, Canzi A, Bridlance C, Olivié N, Lansonneur C, Catale C, Pizzamiglio L, Kloeckner B, Silvin A, Munro DAD, Fortoul A, Boido D, Zehani F, Cartonnet H, Viguier S, Oller G, Squarzoni P, Candat A, Helft J, Allet C, Watrin F, Manent JB, Paoletti P, Thieffry D, Cantini L, Pridans C, Priller J, Gélot A, Giacobini P, Ciobanu L, Ginhoux F, Thion MS, Lokmane L, Garel S. Lawrence AR, et al. Among authors: gelot a. Cell. 2024 Feb 15;187(4):962-980.e19. doi: 10.1016/j.cell.2024.01.012. Epub 2024 Feb 2. Cell. 2024. PMID: 38309258 Free PMC article.
Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.
Le TL, Galmiche L, Levy J, Suwannarat P, Hellebrekers DM, Morarach K, Boismoreau F, Theunissen TE, Lefebvre M, Pelet A, Martinovic J, Gelot A, Guimiot F, Calleroz A, Gitiaux C, Hully M, Goulet O, Chardot C, Drunat S, Capri Y, Bole-Feysot C, Nitschké P, Whalen S, Mouthon L, Babcock HE, Hofstra R, de Coo IF, Tabet AC, Molina TJ, Keren B, Brooks A, Smeets HJ, Marklund U, Gordon CT, Lyonnet S, Amiel J, Bondurand N. Le TL, et al. Among authors: gelot a. J Clin Invest. 2021 Mar 15;131(6):e145837. doi: 10.1172/JCI145837. J Clin Invest. 2021. PMID: 33497358 Free PMC article.
Gaucher disease.
Mignot C, Gelot A, De Villemeur TB. Mignot C, et al. Among authors: gelot a. Handb Clin Neurol. 2013;113:1709-15. doi: 10.1016/B978-0-444-59565-2.00040-X. Handb Clin Neurol. 2013. PMID: 23622393 Review.
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Juliá-Palacios N, Ruiz M, Fourcade S, Casasnovas C, De La Torre C, Gelot A, Marsal M, Loza-Alvarez P, García-Cazorla À, Fatemi A, Ferrer I, Portero-Otin M, Area-Gómez E, Pujol A. Planas-Serra L, et al. Among authors: gelot a. J Clin Invest. 2023 May 15;133(10):e162957. doi: 10.1172/JCI162957. J Clin Invest. 2023. PMID: 36951944 Free PMC article.
First reports of fetal SMARCC1 related hydrocephalus.
Rive Le Gouard N, Nicolle R, Lefebvre M, Gelot A, Heide S, Gerasimenko A, Grigorescu R, Derive N, Jouannic JM, Garel C, Valence S, Quenum-Miraillet G, Chantot-Bastaraud S, Keren B, Heron D, Attie-Bitach T. Rive Le Gouard N, et al. Among authors: gelot a. Eur J Med Genet. 2023 Aug;66(8):104797. doi: 10.1016/j.ejmg.2023.104797. Epub 2023 Jun 5. Eur J Med Genet. 2023. PMID: 37285932 Review.
Intraperitoneal Nivolumab after Debulking Surgery and Hyperthermic Intraperitoneal Chemotherapy in Advanced Ovarian Cancer: A Phase I Study with Expansion Cohort.
Corbaux P, Freyer G, Glehen O, You B, Bakrin N, Gelot A, Dayde D, Sajous C, Piffoux M, Péron J, Lescuyer G, Payen L, Kepenekian V. Corbaux P, et al. Among authors: gelot a. Clin Cancer Res. 2024 Aug 15;30(16):3438-3446. doi: 10.1158/1078-0432.CCR-24-0507. Clin Cancer Res. 2024. PMID: 38819408 Clinical Trial.
Perinatal-lethal Gaucher disease.
Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T. Mignot C, et al. Among authors: gelot a. Am J Med Genet A. 2003 Jul 30;120A(3):338-44. doi: 10.1002/ajmg.a.20117. Am J Med Genet A. 2003. PMID: 12838552
Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Among authors: gelot ab. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
Megalencephalic leukoencephalopathy with subcortical cysts is a developmental disorder of the gliovascular unit.
Gilbert A, Elorza-Vidal X, Rancillac A, Chagnot A, Yetim M, Hingot V, Deffieux T, Boulay AC, Alvear-Perez R, Cisternino S, Martin S, Taïb S, Gelot A, Mignon V, Favier M, Brunet I, Declèves X, Tanter M, Estevez R, Vivien D, Saubaméa B, Cohen-Salmon M. Gilbert A, et al. Among authors: gelot a. Elife. 2021 Nov 1;10:e71379. doi: 10.7554/eLife.71379. Elife. 2021. PMID: 34723793 Free PMC article.
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism.
Parthasarathy S, Ruggiero SM, Gelot A, Soardi FC, Ribeiro BFR, Pires DEV, Ascher DB, Schmitt A, Rambaud C, Represa A, Xie HM, Lusk L, Wilmarth O, McDonnell PP, Juarez OA, Grace AN, Buratti J, Mignot C, Gras D, Nava C, Pierce SR, Keren B, Kennedy BC, Pena SDJ, Helbig I, Cuddapah VA. Parthasarathy S, et al. Among authors: gelot a. Am J Hum Genet. 2022 Dec 1;109(12):2253-2269. doi: 10.1016/j.ajhg.2022.11.002. Epub 2022 Nov 21. Am J Hum Genet. 2022. PMID: 36413998 Free PMC article.
128 results