Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

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 37
2025 22

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

513 results

Results by year

Filters applied: . Clear all
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.
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.
[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.
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
Rosain J, Le Voyer T, Liu X, Gervais A, Polivka L, Cederholm A, Berteloot L, Parent AV, Pescatore A, Spinosa E, Minic S, Kiszewski AE, Tsumura M, Thibault C, Esnaola Azcoiti M, Martinovic J, Philippot Q, Khan T, Marchal A, Charmeteau-De Muylder B, Bizien L, Deswarte C, Hadjem L, Fauvarque MO, Dorgham K, Eriksson D, Falcone EL, Puel M, Ünal S, Geraldo A, Le Floc'h C, Li H, Rheault S, Muti C, Bobrie-Moyrand C, Welfringer-Morin A, Fuleihan RL, Lévy R, Roelens M, Gao L, Materna M, Pellegrini S, Piemonti L, Catherinot E, Goffard JC, Fekkar A, Sacko-Sow A, Soudée C, Boucherit S, Neehus AL, Has C, Hübner S, Blanchard-Rohner G, Amador-Borrero B, Utsumi T, Taniguchi M, Tani H, Izawa K, Yasumi T, Kanai S, Migaud M, Aubart M, Lambert N, Gorochov G, Picard C, Soudais C, L'Honneur AS, Rozenberg F, Milner JD, Zhang SY, Vabres P, Trpinac D, Marr N, Boddaert N, Desguerre I, Pasparakis M, Miller CN, Poziomczyk CS, Abel L, Okada S, Jouanguy E, Cheynier R, Zhang Q, Cobat A, Béziat V, Boisson B, Steffann J, Fusco F, Ursini MV, Hadj-Rabia S, Bodemer C, Bustamante J, Luche H, Puel A, Courtois G, Bastard P, Landegren N, Anderson MS, Casanova JL. Rosain J, et al. Among authors: boddaert n. J Exp Med. 2024 Nov 4;221(11):e20231152. doi: 10.1084/jem.20231152. Epub 2024 Oct 1. J Exp Med. 2024. PMID: 39352576 Free PMC article.
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger JE, Audo I, Robert MP, David P, Jung V, Goudin N, Guerrera IC, Moriceau S, Amana D, Assia Batzir N, Bachar-Zipori A, Basel Salmon L, Boddaert N, Briault S, Bruel AL, Costet-Fighiera C, Coutinho Santos L, Gitiaux C, Kaminska K, Kuentz P, Orenstein N, Philip-Sarles N, Plutino M, Quinodoz M, Santos C, Sigaudy S, Soeiro E Sá M, Sofrin E, Sousa AB, Sousa-Luis R, Thauvin-Robinet C, van Dijk EL, Zaafrane-Khachnaoui K, Zur D, Kaplan J, Rivolta C, Rozet JM, Perrault I. Zanetti A, et al. Among authors: boddaert n. Nat Commun. 2024 Nov 21;15(1):10096. doi: 10.1038/s41467-024-54549-8. Nat Commun. 2024. PMID: 39572588 Free PMC article.
513 results