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Page 1
Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P. Putoux A, et al. Among authors: besson a. Clin Genet. 2016 Dec;90(6):550-555. doi: 10.1111/cge.12781. Epub 2016 Jun 2. Clin Genet. 2016. PMID: 27040866 Free article.
New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients.
Cologne A, Benoit-Pilven C, Besson A, Putoux A, Campan-Fournier A, Bober MB, De Die-Smulders CEM, Paulussen ADC, Pinson L, Toutain A, Roifman CM, Leutenegger AL, Mazoyer S, Edery P, Lacroix V. Cologne A, et al. Among authors: besson a. RNA. 2019 Sep;25(9):1130-1149. doi: 10.1261/rna.071423.119. Epub 2019 Jun 7. RNA. 2019. PMID: 31175170 Free PMC article.
Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene.
Benoit-Pilven C, Besson A, Putoux A, Benetollo C, Saccaro C, Guguin J, Sala G, Cologne A, Delous M, Lesca G, Padgett RA, Leutenegger AL, Lacroix V, Edery P, Mazoyer S. Benoit-Pilven C, et al. Among authors: besson a. PLoS One. 2020 Jul 6;15(7):e0235655. doi: 10.1371/journal.pone.0235655. eCollection 2020. PLoS One. 2020. PMID: 32628740 Free PMC article.
Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish.
Khatri D, Putoux A, Cologne A, Kaltenbach S, Besson A, Bertiaux E, Guguin J, Fendler A, Dupont MA, Benoit-Pilven C, Qebibo L, Ahmed-Elie S, Audebert-Bellanger S, Blanc P, Rambaud T, Castelle M, Cornen G, Grotto S, Guët A, Guibaud L, Michot C, Odent S, Ruaud L, Sacaze E, Hamel V, Bordonné R, Leutenegger AL, Edery P, Burglen L, Attié-Bitach T, Mazoyer S, Delous M. Khatri D, et al. Among authors: besson a. Proc Natl Acad Sci U S A. 2023 Feb 28;120(9):e2102569120. doi: 10.1073/pnas.2102569120. Epub 2023 Feb 21. Proc Natl Acad Sci U S A. 2023. PMID: 36802443 Free PMC article.
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.
Haghshenas S, Putoux A, Reilly J, Levy MA, Relator R, Ghosh S, Kerkhof J, McConkey H, Edery P, Lesca G, Besson A, Coubes C, Willems M, Ruiz-Pallares N, Barat-Houari M, Tizzano EF, Valenzuela I, Sabbagh Q, Clayton-Smith J, Jackson A, O'Sullivan J, Bromley R, Banka S, Genevieve D, Sadikovic B. Haghshenas S, et al. Among authors: besson a. Genet Med. 2024 Oct;26(10):101226. doi: 10.1016/j.gim.2024.101226. Epub 2024 Jul 31. Genet Med. 2024. PMID: 39097820
Functional variants of POC5 identified in patients with idiopathic scoliosis.
Patten SA, Margaritte-Jeannin P, Bernard JC, Alix E, Labalme A, Besson A, Girard SL, Fendri K, Fraisse N, Biot B, Poizat C, Campan-Fournier A, Abelin-Genevois K, Cunin V, Zaouter C, Liao M, Lamy R, Lesca G, Menassa R, Marcaillou C, Letexier M, Sanlaville D, Berard J, Rouleau GA, Clerget-Darpoux F, Drapeau P, Moldovan F, Edery P. Patten SA, et al. Among authors: besson a. J Clin Invest. 2015 Mar 2;125(3):1124-8. doi: 10.1172/JCI77262. Epub 2015 Feb 2. J Clin Invest. 2015. PMID: 25642776 Free PMC article.
Ultraportable Quantitative Ultrasound for Hepatic Steatosis Assessment.
Hériard-Dubreuil B, Besson A, Mamou J, Gay J, Foucher J, De Ledinghen V, Cohen-Bacrie C. Hériard-Dubreuil B, et al. Among authors: besson a. Ultrasound Med Biol. 2024 Sep 23:S0301-5629(24)00316-8. doi: 10.1016/j.ultrasmedbio.2024.08.008. Online ahead of print. Ultrasound Med Biol. 2024. PMID: 39317626
Ostomy Information on the Internet-Is It Good Enough?
Zhou Z, Besson AJ, Hayes D, Yeung JMC. Zhou Z, et al. Among authors: besson aj. J Wound Ostomy Continence Nurs. 2024 May-Jun 01;51(3):199-205. doi: 10.1097/WON.0000000000001077. Epub 2024 May 27. J Wound Ostomy Continence Nurs. 2024. PMID: 38820217
288 results