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Year Number of Results
1995 1
1997 1
1998 3
1999 1
2000 1
2003 1
2004 2
2005 2
2006 4
2007 3
2008 5
2009 4
2010 3
2011 8
2012 16
2013 11
2014 16
2015 11
2016 14
2017 20
2018 17
2019 9
2020 13
2021 10
2022 9
2023 3
2024 10
2025 6

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179 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: bole feysot c. 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.
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Morinière V, Dahan K, Hilbert P, Lison M, Lebbah S, Topa A, Bole-Feysot C, Pruvost S, Nitschke P, Plaisier E, Knebelmann B, Macher MA, Noel LH, Gubler MC, Antignac C, Heidet L. Morinière V, et al. Among authors: bole feysot c. J Am Soc Nephrol. 2014 Dec;25(12):2740-51. doi: 10.1681/ASN.2013080912. Epub 2014 May 22. J Am Soc Nephrol. 2014. PMID: 24854265 Free PMC article.
Human C-terminal CUBN variants associate with chronic proteinuria and normal renal function.
Bedin M, Boyer O, Servais A, Li Y, Villoing-Gaudé L, Tête MJ, Cambier A, Hogan J, Baudouin V, Krid S, Bensman A, Lammens F, Louillet F, Ranchin B, Vigneau C, Bouteau I, Isnard-Bagnis C, Mache CJ, Schäfer T, Pape L, Gödel M, Huber TB, Benz M, Klaus G, Hansen M, Latta K, Gribouval O, Morinière V, Tournant C, Grohmann M, Kuhn E, Wagner T, Bole-Feysot C, Jabot-Hanin F, Nitschké P, Ahluwalia TS, Köttgen A, Andersen CBF, Bergmann C, Antignac C, Simons M. Bedin M, et al. Among authors: bole feysot c. J Clin Invest. 2020 Jan 2;130(1):335-344. doi: 10.1172/JCI129937. J Clin Invest. 2020. PMID: 31613795 Free PMC article. Clinical Trial.
PIK3CA inhibition in models of proliferative glomerulonephritis and lupus nephritis.
Yamaguchi J, Isnard P, Robil N, de la Grange P, Hoguin C, Schmitt A, Hummel A, Megret J, Goudin N, Luka M, Ménager MM, Masson C, Zarhrate M, Bôle-Feysot C, Janiszewska M, Polyak K, Dairou J, Baldassari S, Baulac S, Broissand C, Legendre C, Terzi F, Canaud G. Yamaguchi J, et al. Among authors: bole feysot c. J Clin Invest. 2024 Jun 6;134(15):e176402. doi: 10.1172/JCI176402. J Clin Invest. 2024. PMID: 38842935 Free PMC article.
Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
Jeanpierre M, Cognard J, Tusseau M, Riller Q, Bui LC, Berthelet J, Laurent A, Crickx E, Parlato M, Stolzenberg MC, Suarez F, Leverger G, Aladjidi N, Collardeau-Frachon S, Pietrement C, Malphettes M, Froissart A, Bole-Feysot C, Cagnard N, Rodrigues Lima F, Walzer T, Rieux-Laucat F, Belot A, Mathieu AL. Jeanpierre M, et al. Among authors: bole feysot c. J Exp Med. 2024 Sep 2;221(9):e20232337. doi: 10.1084/jem.20232337. Epub 2024 Jul 19. J Exp Med. 2024. PMID: 39028869 Free PMC article.
Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes on the X Chromosome in Extranodal NK/T-cell Lymphoma.
Ito Y, Marouf A, Kogure Y, Koya J, Liévin R, Bruneau J, Tabata M, Saito Y, Shingaki S, Yuasa M, Yamaguchi K, Murakami K, Weil R, Vavasseur M, Andrieu GP, Latiri M, Veleanu L, Dussiot M, André I, Joshi A, Lagresle-Peyrou C, Magerus A, Chaubard S, Lavergne D, Bachy E, Brunet E, Fataccioli V, Brouzes C, Laurent C, de Leval L, Traverse-Glehen A, Bossard C, Parrens M, Meignin V, Philippe L, Rossignol J, Suarez F, Michot JM, Tournilhac O, Damaj G, Lemonnier F, Bôle-Feysot C, Nitschké P, Tesson B, Laurent C, Molina T, Asnafi V, Watatani Y, Chiba K, Okada A, Shiraishi Y, Tsukita S, Izutsu K, Miyoshi H, Ohshima K, Sakata S, Dobashi A, Takeuchi K, Sanada M, Gaulard P, Jaccard A, Ogawa S, Hermine O, Kataoka K, Couronné L. Ito Y, et al. Among authors: bole feysot c. Cancer Res. 2024 Jul 2;84(13):2181-2201. doi: 10.1158/0008-5472.CAN-24-0132. Cancer Res. 2024. PMID: 38657099
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series.
Zhu G, Didry-Barca B, Seabra L, Rice GI, Uggenti C, Touimy M, Rodero MP, Trapero RH, Bondet V, Duffy D, Gautier P, Livingstone K, Sutherland FJH, Lebon P, Parisot M, Bole-Feysot C, Masson C, Cagnard N, Nitschké P, Anderson G, Assmann B, Barth M, Boespflug-Tanguy O, D'Arco F, Dorboz I, Giese T, Hacohen Y, Hancarova M, Husson M, Lepine A, Lim M, Mancardi MM, Melki I, Neubauer D, Sa M, Sedlacek Z, Seitz A, Rottman MS, Sanquer S, Straussberg R, Vlčková M, Villéga F, Wagner M, Zerem A, Marsh JA, Frémond ML, Kaliakatsos M, Crow YJ, El-Daher MT, Lepelley A. Zhu G, et al. Among authors: bole feysot c. Lancet Neurol. 2025 Mar;24(3):218-229. doi: 10.1016/S1474-4422(24)00526-X. Lancet Neurol. 2025. PMID: 39986310 Free PMC article.
Oncogenetic landscape of lymphomagenesis in coeliac disease.
Cording S, Lhermitte L, Malamut G, Berrabah S, Trinquand A, Guegan N, Villarese P, Kaltenbach S, Meresse B, Khater S, Dussiot M, Bras M, Cheminant M, Tesson B, Bole-Feysot C, Bruneau J, Molina TJ, Sibon D, Macintyre E, Hermine O, Cellier C, Asnafi V, Cerf-Bensussan N; CELAC network. Cording S, et al. Among authors: bole feysot c. Gut. 2022 Mar;71(3):497-508. doi: 10.1136/gutjnl-2020-322935. Epub 2021 Feb 12. Gut. 2022. PMID: 33579790 Free PMC article.
Compound heterozygous mutations in the kinase domain of IKKα lead to immunodeficiency and immune dysregulation.
Riller Q, Sorin B, Courteille C, Ho-Nhat D, Voyer TL, Debray JC, Stolzenberg MC, Pellé O, Becquard T, Riestra MR, Berteloot L, Migaud M, Delage L, Jeanpierre M, Boussard C, Brunaud C, Magérus A, Michel V, Roux C, Picard C, Masson C, Bole-Feysot C, Cagnard N, Corneau A, Meyts I, Baud V, Casanova JL, Fischer A, Dejardin E, Puel A, Boulanger C, Neven B, Rieux-Laucat F. Riller Q, et al. Among authors: bole feysot c. medRxiv [Preprint]. 2024 May 17:2024.05.17.24307356. doi: 10.1101/2024.05.17.24307356. medRxiv. 2024. Update in: J Exp Med. 2025 Feb 3;222(2):e20240843. doi: 10.1084/jem.20240843. PMID: 38798321 Free PMC article. Updated. Preprint.
Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.
Bohlen J, Bagarić I, Vatovec T, Ogishi M, Ahmed SF, Cederholm A, Buetow L, Sobrino S, Le Floc'h C, Arango-Franco CA, Seabra L, Michelet M, Barzaghi F, Leardini D, Saettini F, Vendemini F, Baccelli F, Catala A, Gambineri E, Veltroni M, Aguilar de la Red Y, Rice GI, Consonni F, Berteloot L, Largeaud L, Conti F, Roullion C, Masson C, Bessot B, Seeleuthner Y, Le Voyer T, Rinchai D, Rosain J, Neehus AL, Erazo-Borrás L, Li H, Janda Z, Cho EJ, Muratore E, Soudée C, Lainé C, Delabesse E, Goulvestre C, Ma CS, Puel A, Tangye SG, André I, Bole-Feysot C, Abel L, Erlacher M, Zhang SY, Béziat V, Lagresle-Peyrou C, Six E, Pasquet M, Alsina L, Aiuti A, Zhang P, Crow YJ, Landegren N, Masetti R, Huang DT, Casanova JL, Bustamante J. Bohlen J, et al. Among authors: bole feysot c. J Clin Invest. 2024 Oct 15;134(20):e181604. doi: 10.1172/JCI181604. J Clin Invest. 2024. PMID: 39403923 Free PMC article.
179 results