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

Year Number of Results
1997 1
1998 4
1999 1
2000 2
2001 4
2002 1
2003 1
2006 2
2007 1
2010 3
2011 1
2012 2
2013 5
2014 3
2015 3
2016 5
2017 2
2018 1
2019 1
2020 2
2021 2
2022 1
2023 1
2024 2
2025 1
2026 1

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51 results

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Page 1
Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N. Pingault V, et al. Among authors: bondurand n. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Hum Mutat. 2010. PMID: 20127975 Free article. Review.
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: bondurand n. J Clin Invest. 2021 Mar 15;131(6):e145837. doi: 10.1172/JCI145837. J Clin Invest. 2021. PMID: 33497358 Free PMC article.
Generation of two iPSC lines from patients with Aicardi-Goutières syndrome carrying either biallelic ADAR1 mutations (PC138) or a heterozygous IFIH1 mutation (PC139).
Zerad L, Didry-Barca B, Banal C, Onteniente B, Lefort N, Lepelley A, Seabra L, Hully M, Zweier C, Bondurand N, Crow YJ, Frémond ML. Zerad L, et al. Among authors: bondurand n. Stem Cell Res. 2025 Dec;89:103873. doi: 10.1016/j.scr.2025.103873. Epub 2025 Nov 27. Stem Cell Res. 2025. PMID: 41351966 Free PMC article.
A 22q13.1 duplication in mosaicism including SOX10.
Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschké P, Maurin ML, Lapierre JM, Loundon N, Belhous K, Bondurand N, Marlin S, Pingault V. Bertani-Torres W, et al. Among authors: bondurand n. Am J Med Genet A. 2023 Dec;191(12):2813-2818. doi: 10.1002/ajmg.a.63362. Epub 2023 Aug 2. Am J Med Genet A. 2023. PMID: 37533297
White paper on guidelines concerning enteric nervous system stem cell therapy for enteric neuropathies.
Burns AJ, Goldstein AM, Newgreen DF, Stamp L, Schäfer KH, Metzger M, Hotta R, Young HM, Andrews PW, Thapar N, Belkind-Gerson J, Bondurand N, Bornstein JC, Chan WY, Cheah K, Gershon MD, Heuckeroth RO, Hofstra RM, Just L, Kapur RP, King SK, McCann CJ, Nagy N, Ngan E, Obermayr F, Pachnis V, Pasricha PJ, Sham MH, Tam P, Vanden Berghe P. Burns AJ, et al. Among authors: bondurand n. Dev Biol. 2016 Sep 15;417(2):229-51. doi: 10.1016/j.ydbio.2016.04.001. Epub 2016 Apr 5. Dev Biol. 2016. PMID: 27059883 Free PMC article. Review.
SOX10 mutations mimic isolated hearing loss.
Pingault V, Faubert E, Baral V, Gherbi S, Loundon N, Couloigner V, Denoyelle F, Noël-Pétroff N, Ducou Le Pointe H, Elmaleh-Bergès M, Bondurand N, Marlin S. Pingault V, et al. Among authors: bondurand n. Clin Genet. 2015 Oct;88(4):352-9. doi: 10.1111/cge.12506. Epub 2014 Nov 6. Clin Genet. 2015. PMID: 25256313
An ADAR1 dsRBD3-PKR kinase domain interaction on dsRNA inhibits PKR activation.
Sinigaglia K, Cherian A, Du Q, Lacovich V, Vukić D, Melicherová J, Linhartova P, Zerad L, Stejskal S, Malik R, Prochazka J, Bondurand N, Sedláček R, O'Connell MA, Keegan LP. Sinigaglia K, et al. Among authors: bondurand n. Cell Rep. 2024 Aug 27;43(8):114618. doi: 10.1016/j.celrep.2024.114618. Epub 2024 Aug 14. Cell Rep. 2024. PMID: 39146181 Free article.
51 results