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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 20
2012 34
2013 26
2014 22
2015 25
2016 21
2017 36
2018 37
2019 36
2020 45
2021 50
2022 41
2023 38
2024 35
2025 1

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492 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.
Genotype-phenotype correlations in individuals with pathogenic RERE variants.
Jordan VK, Fregeau B, Ge X, Giordano J, Wapner RJ, Balci TB, Carter MT, Bernat JA, Moccia AN, Srivastava A, Martin DM, Bielas SL, Pappas J, Svoboda MD, Rio M, Boddaert N, Cantagrel V, Lewis AM, Scaglia F; Undiagnosed Diseases Network; Kohler JN, Bernstein JA, Dries AM, Rosenfeld JA, DeFilippo C, Thorson W, Yang Y, Sherr EH, Bi W, Scott DA. Jordan VK, et al. Among authors: boddaert n. Hum Mutat. 2018 May;39(5):666-675. doi: 10.1002/humu.23400. Epub 2018 Jan 25. Hum Mutat. 2018. PMID: 29330883 Free PMC article.
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.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: boddaert n. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
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.
[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.
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.
492 results