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

Year Number of Results
2000 2
2001 2
2002 3
2003 4
2004 6
2005 11
2006 10
2007 14
2008 22
2009 22
2010 20
2011 19
2012 31
2013 25
2014 20
2015 23
2016 21
2017 36
2018 37
2019 36
2020 44
2021 50
2022 41
2023 38
2024 30

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478 results

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Page 1
Targeted therapy in patients with PIK3CA-related overgrowth syndrome.
Venot Q, Blanc T, Rabia SH, Berteloot L, Ladraa S, Duong JP, Blanc E, Johnson SC, Hoguin C, Boccara O, Sarnacki S, Boddaert N, Pannier S, Martinez F, Magassa S, Yamaguchi J, Knebelmann B, Merville P, Grenier N, Joly D, Cormier-Daire V, Michot C, Bole-Feysot C, Picard A, Soupre V, Lyonnet S, Sadoine J, Slimani L, Chaussain C, Laroche-Raynaud C, Guibaud L, Broissand C, Amiel J, Legendre C, Terzi F, Canaud G. Venot Q, et al. Among authors: boddaert n. Nature. 2018 Jun;558(7711):540-546. doi: 10.1038/s41586-018-0217-9. Epub 2018 Jun 13. Nature. 2018. PMID: 29899452 Free PMC article. Clinical Trial.
EANO-EURACAN clinical practice guideline for diagnosis, treatment, and follow-up of post-pubertal and adult patients with medulloblastoma.
Franceschi E, Hofer S, Brandes AA, Frappaz D, Kortmann RD, Bromberg J, Dangouloff-Ros V, Boddaert N, Hattingen E, Wiestler B, Clifford SC, Figarella-Branger D, Giangaspero F, Haberler C, Pietsch T, Pajtler KW, Pfister SM, Guzman R, Stummer W, Combs SE, Seidel C, Beier D, McCabe MG, Grotzer M, Laigle-Donadey F, Stücklin ASG, Idbaih A, Preusser M, van den Bent M, Weller M, Hau P. Franceschi E, et al. Among authors: boddaert n. Lancet Oncol. 2019 Dec;20(12):e715-e728. doi: 10.1016/S1470-2045(19)30669-2. Lancet Oncol. 2019. PMID: 31797797 Review.
Suggested guidelines for the diagnosis and management of urea cycle disorders.
Häberle J, Boddaert N, Burlina A, Chakrapani A, Dixon M, Huemer M, Karall D, Martinelli D, Crespo PS, Santer R, Servais A, Valayannopoulos V, Lindner M, Rubio V, Dionisi-Vici C. Häberle J, et al. Among authors: boddaert n. Orphanet J Rare Dis. 2012 May 29;7:32. doi: 10.1186/1750-1172-7-32. Orphanet J Rare Dis. 2012. PMID: 22642880 Free PMC article. Review.
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F. Braun DA, et al. Among authors: boddaert n. Nat Genet. 2017 Oct;49(10):1529-1538. doi: 10.1038/ng.3933. Epub 2017 Aug 14. Nat Genet. 2017. PMID: 28805828 Free PMC article.
Diffuse midline glioma invasion and metastasis rely on cell-autonomous signaling.
Bruschi M, Midjek L, Ajlil Y, Vairy S, Lancien M, Ghermaoui S, Kergrohen T, Verreault M, Idbaih A, de Biagi CAO Junior, Liu I, Filbin MG, Beccaria K, Blauwblomme T, Puget S, Tauziede-Espariat A, Varlet P, Dangouloff-Ros V, Boddaert N, Le Teuff G, Grill J, Montagnac G, Elkhatib N, Debily MA, Castel D. Bruschi M, et al. Among authors: boddaert n. Neuro Oncol. 2024 Mar 4;26(3):553-568. doi: 10.1093/neuonc/noad161. Neuro Oncol. 2024. PMID: 37702430 Free PMC article.
[Imaging Moya-Moya disease].
Ancelet C, Boulouis G, Blauwblomme T, Kossorotoff M, Rodriguez-Regent C, Mellerio C, Grevent D, Meder JF, Trystram D, Oppenheim C, Zerah M, Puget S, Sainte-Rose C, Boddaert N, Brunelle F, Naggara O. Ancelet C, et al. Among authors: boddaert n. Rev Neurol (Paris). 2015 Jan;171(1):45-57. doi: 10.1016/j.neurol.2014.11.004. Epub 2014 Dec 30. Rev Neurol (Paris). 2015. PMID: 25555853 Review. French.
Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.
Calame DG, Guo T, Wang C, Garrett L, Jolly A, Dawood M, Kurolap A, Henig NZ, Fatih JM, Herman I, Du H, Mitani T, Becker L, Rathkolb B, Gerlini R, Seisenberger C, Marschall S, Hunter JV, Gerard A, Heidlebaugh A, Challman T, Spillmann RC, Jhangiani SN, Coban-Akdemir Z, Lalani S, Liu L, Revah-Politi A, Iglesias A, Guzman E, Baugh E, Boddaert N, Rondeau S, Ormieres C, Barcia G, Tan QKG, Thiffault I, Pastinen T, Sheikh K, Biliciler S, Mei D, Melani F, Shashi V, Yaron Y, Steele M, Wakeling E, Østergaard E, Nazaryan-Petersen L; Undiagnosed Diseases Network; Millan F, Santiago-Sim T, Thevenon J, Bruel AL, Thauvin-Robinet C, Popp D, Platzer K, Gawlinski P, Wiszniewski W, Marafi D, Pehlivan D, Posey JE, Gibbs RA, Gailus-Durner V, Guerrini R, Fuchs H, Hrabě de Angelis M, Hölter SM, Cheung HH, Gu S, Lupski JR. Calame DG, et al. Among authors: boddaert n. Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. doi: 10.1016/j.ajhg.2023.06.013. Epub 2023 Jul 18. Am J Hum Genet. 2023. PMID: 37467750 Free PMC article.
A new subtype of diffuse midline glioma, H3 K27 and BRAF/FGFR1 co-altered: a clinico-radiological and histomolecular characterisation.
Auffret L, Ajlil Y, Tauziède-Espariat A, Kergrohen T, Puiseux C, Riffaud L, Blouin P, Bertozzi AI, Leblond P, Blomgren K, Froelich S, Picca A, Touat M, Sanson M, Beccaria K, Blauwblomme T, Dangouloff-Ros V, Boddaert N, Varlet P, Debily MA, Grill J, Castel D. Auffret L, et al. Among authors: boddaert n. Acta Neuropathol. 2023 Dec 8;147(1):2. doi: 10.1007/s00401-023-02651-4. Acta Neuropathol. 2023. PMID: 38066305 Free PMC article.
Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.
Kour S, Rajan DS, Fortuna TR, Anderson EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desguerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacoto MJG, Begtrup A, Houlden H, Kirschner J, Schorling D, Rudnik-Schöneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bönnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Kour S, et al. Among authors: boddaert n. Nat Commun. 2021 May 7;12(1):2558. doi: 10.1038/s41467-021-22627-w. Nat Commun. 2021. PMID: 33963192 Free PMC article.
[Autism: neuroimaging].
Zilbovicius M, Meresse I, Boddaert N. Zilbovicius M, et al. Among authors: boddaert n. Braz J Psychiatry. 2006 May;28 Suppl 1:S21-8. doi: 10.1590/s1516-44462006000500004. Epub 2006 Jun 12. Braz J Psychiatry. 2006. PMID: 16791388 Free article. Review. Portuguese.
478 results