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

Year Number of Results
2003 1
2006 1
2007 3
2008 3
2009 2
2010 2
2011 5
2012 4
2013 5
2014 2
2015 1
2016 2
2017 3
2018 1
2019 2
2020 3
2022 1
2023 3
2024 0

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37 results

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Page 1
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature.
Lerat J, Jonard L, Loundon N, Christin-Maitre S, Lacombe D, Goizet C, Rouzier C, Van Maldergem L, Gherbi S, Garabedian EN, Bonnefont JP, Touraine P, Mosnier I, Munnich A, Denoyelle F, Marlin S. Lerat J, et al. Among authors: jonard l. Hum Mutat. 2016 Dec;37(12):1354-1362. doi: 10.1002/humu.23120. Epub 2016 Oct 7. Hum Mutat. 2016. PMID: 27650058 Review.
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, Boddaert N, Rodriguez D, Rubinato E, Lapierre JM, Merlette C, Sanquer S, Rötig A, Prokisch H, Lyonnet S, Loundon N, Kaplan J, Bonnefont JP, Munnich A, Besmond C, Jonard L, Marlin S. Mercati O, et al. Among authors: jonard l. Eur J Med Genet. 2020 Nov;63(11):104033. doi: 10.1016/j.ejmg.2020.104033. Epub 2020 Aug 8. Eur J Med Genet. 2020. PMID: 32781272 Review.
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations.
Gutiérrez Cortés N, Pertuiset C, Dumon E, Börlin M, Da Costa B, Le Guédard M, Stojkovic T, Loundon N, Rouillon I, Nadjar Y, Letellier T, Jonard L, Marlin S, Rocher C. Gutiérrez Cortés N, et al. Among authors: jonard l. Hum Mol Genet. 2020 Apr 15;29(6):980-989. doi: 10.1093/hmg/ddaa020. Hum Mol Genet. 2020. PMID: 32011699
Mild MDPL in a patient with a novel de novo missense variant in the Cys-B region of POLD1.
Chopra M, Caswell R, Barcia G, Rondeau S, Jonard L, Nitchké P, Amram D, Bellaiche ML, Abadie V, Parodi M, Denoyelle F, Hattersley A, Bole C, Lyonnet S, Marlin S. Chopra M, et al. Among authors: jonard l. Eur J Hum Genet. 2022 Aug;30(8):960-966. doi: 10.1038/s41431-022-01118-6. Epub 2022 May 20. Eur J Hum Genet. 2022. PMID: 35590056 Free PMC article.
High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.
Lerat J, Bonnet C, Cartault F, Loundon N, Jacquemont ML, Darcel F, Rouillon I, Mezouaghi K, Guichet A, Litzler J, Gesny R, Gherbi S, Aissa IB, Digeon FSJ, Garabedian EN, Bonnefont JP, Genin E, Denoyelle F, Jonard L, Marlin S. Lerat J, et al. Among authors: jonard l. Clin Genet. 2019 Jan;95(1):177-181. doi: 10.1111/cge.13460. Epub 2018 Nov 4. Clin Genet. 2019. PMID: 30298622
37 results