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

Year Number of Results
1993 1
2003 1
2004 2
2005 4
2006 7
2007 9
2008 24
2009 16
2010 22
2011 9
2012 17
2013 13
2014 11
2015 17
2016 20
2017 16
2018 18
2019 10
2020 9
2021 10
2022 7
2023 6

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201 results

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Page 1
Tubulinopathies Overview.
Bahi-Buisson N, Maillard C. Bahi-Buisson N, et al. 2016 Mar 24 [updated 2021 Sep 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. 2016 Mar 24 [updated 2021 Sep 16]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. PMID: 27010057 Free Books & Documents. Review.
Rett syndrome: revised diagnostic criteria and nomenclature.
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium. Neul JL, et al. Among authors: bahi buisson n. Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124. Ann Neurol. 2010. PMID: 21154482 Free PMC article.
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O; Marigold Trial Group. Knight EMP, et al. Among authors: bahi buisson n. Lancet Neurol. 2022 May;21(5):417-427. doi: 10.1016/S1474-4422(22)00077-1. Lancet Neurol. 2022. PMID: 35429480 Clinical Trial.
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Poirier K, et al. Among authors: bahi buisson n. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21. Nat Genet. 2013. PMID: 23603762 Free PMC article.
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.
Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel-Hamid MS, Abdel-Salam GM, Ackroyd S, Aeby A, Agosta G, Albin C, Allon-Shalev S, Arellano M, Ariaudo G, Aswani V, Babul-Hirji R, Baildam EM, Bahi-Buisson N, Bailey KM, Barnerias C, Barth M, Battini R, Beresford MW, Bernard G, Bianchi M, Billette de Villemeur T, Blair EM, Bloom M, Burlina AB, Carpanelli ML, Carvalho DR, Castro-Gago M, Cavallini A, Cereda C, Chandler KE, Chitayat DA, Collins AE, Sierra Corcoles C, Cordeiro NJ, Crichiutti G, Dabydeen L, Dale RC, D'Arrigo S, De Goede CG, De Laet C, De Waele LM, Denzler I, Desguerre I, Devriendt K, Di Rocco M, Fahey MC, Fazzi E, Ferrie CD, Figueiredo A, Gener B, Goizet C, Gowrinathan NR, Gowrishankar K, Hanrahan D, Isidor B, Kara B, Khan N, King MD, Kirk EP, Kumar R, Lagae L, Landrieu P, Lauffer H, Laugel V, La Piana R, Lim MJ, Lin JP, Linnankivi T, Mackay MT, Marom DR, Marques Lourenço C, McKee SA, Moroni I, Morton JE, Moutard ML, Murray K, Nabbout R, Nampoothiri S, Nunez-Enamorado N, Oades PJ, Olivieri I, Ostergaard JR, Pérez-Dueñas B, Prendiville JS, Ramesh V, Rasmussen M, Régal L, Ricci F, Rio M, Ro… See abstract for full author list ➔ Crow YJ, et al. Among authors: bahi buisson n. Am J Med Genet A. 2015 Feb;167A(2):296-312. doi: 10.1002/ajmg.a.36887. Epub 2015 Jan 16. Am J Med Genet A. 2015. PMID: 25604658 Free PMC article.
EML1-associated brain overgrowth syndrome with ribbon-like heterotopia.
Oegema R, McGillivray G, Leventer R, Le Moing AG, Bahi-Buisson N, Barnicoat A, Mandelstam S, Francis D, Francis F, Mancini GMS, Savelberg S, van Haaften G, Mankad K, Lequin MH. Oegema R, et al. Among authors: bahi buisson n. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):627-637. doi: 10.1002/ajmg.c.31751. Epub 2019 Nov 11. Am J Med Genet C Semin Med Genet. 2019. PMID: 31710781 Free PMC article. Review.
Genetics and mechanisms leading to human cortical malformations.
Romero DM, Bahi-Buisson N, Francis F. Romero DM, et al. Among authors: bahi buisson n. Semin Cell Dev Biol. 2018 Apr;76:33-75. doi: 10.1016/j.semcdb.2017.09.031. Epub 2017 Oct 11. Semin Cell Dev Biol. 2018. PMID: 28951247 Review.
Bilateral frontoparietal polymicrogyria.
Jain P, Sharma S, Bahi-Buisson N, Beldjord C, Aneja S. Jain P, et al. Among authors: bahi buisson n. Indian J Pediatr. 2015 Apr;82(4):390-1. doi: 10.1007/s12098-014-1614-1. Epub 2014 Nov 23. Indian J Pediatr. 2015. PMID: 25416088 No abstract available.
In utero exposure to Azathioprine in autoimmune disease. Where do we stand?
Belizna C, Meroni PL, Shoenfeld Y, Devreese K, Alijotas-Reig J, Esteve-Valverde E, Chighizola C, Pregnolato F, Cohen H, Fassot C, Mattera PM, Peretti P, Levy A, Bernard L, Saiet M, Lagarce L, Briet M, Rivière M, Pellier I, Gascoin G, Rakotonjanahary J, Borghi MO, Stojanovich L, Djokovic A, Stanisavljevic N, Bromley R, Elefant-Amoura E, Bahi Buisson N, Pindi Sala T, Kelchtermans H, Makatsariya A, Bidsatze V, Khizroeva J, Latino JO, Udry S, Henrion D, Loufrani L, Guihot AL, Muchardt C, Hasan M, Ungeheuer MN, Voswinkel J, Damian L, Pabinger I, Gebhart J, Lopez Pedrera R, Cohen Tervaert JW, Tincani A, Andreoli L. Belizna C, et al. Among authors: bahi buisson n. Autoimmun Rev. 2020 Sep;19(9):102525. doi: 10.1016/j.autrev.2020.102525. Epub 2020 Mar 30. Autoimmun Rev. 2020. PMID: 32240856 Review.
Epilepsy in inborn errors of metabolism.
Bahi-Buisson N, Dulac O. Bahi-Buisson N, et al. Handb Clin Neurol. 2013;111:533-41. doi: 10.1016/B978-0-444-52891-9.00056-7. Handb Clin Neurol. 2013. PMID: 23622201 Review.
201 results