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Year Number of Results
2002 3
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2005 1
2006 1
2007 2
2008 3
2009 2
2010 6
2011 9
2012 6
2013 8
2014 7
2015 4
2016 8
2017 12
2018 10
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2024 12

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133 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: rabia sh. 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.
Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, Hadj-Rabia S, Tadini G, Pagnan N, Visinoni AF, Bergendal B, Abbott B, Fete T, Stanford C, Butcher C, D'Souza RN, Sybert VP, Morasso MI. Wright JT, et al. Among authors: hadj rabia s. Am J Med Genet A. 2019 Mar;179(3):442-447. doi: 10.1002/ajmg.a.61045. Epub 2019 Jan 31. Am J Med Genet A. 2019. PMID: 30703280 Free PMC article. Review.
Low risk of embryonic and other cancers in PIK3CA-related overgrowth spectrum: Impact on screening recommendations.
Faivre L, Crépin JC, Réda M, Nambot S, Carmignac V, Abadie C, Mirault T, Faure-Conter C, Mazereeuw-Hautier J, Maza A, Puzenat E, Collonge-Rame MA, Bursztejn AC, Philippe C, Thauvin-Robinet C, Chevarin M, Abasq-Thomas C, Amiel J, Arpin S, Barbarot S, Baujat G, Bessis D, Bourrat E, Boute O, Chassaing N, Coubes C, Demeer B, Edery P, El Chehadeh S, Goldenberg A, Hadj-Rabia S, Haye D, Isidor B, Jacquemont ML, Van Kien PK, Lacombe D, Lehalle D, Lambert L, Martin L, Maruani A, Morice-Picard F, Petit F, Phan A, Pinson L, Rossi M, Touraine R, Vanlerberghe C, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Verkarre V, Devalland C, Devouassoux-Shisheboran M, Abad M, Rioux-Leclercq N, Bonniaud B, Duffourd Y, Martel J, Binquet C, Kuentz P, Vabres P. Faivre L, et al. Among authors: hadj rabia s. Clin Genet. 2023 Nov;104(5):554-563. doi: 10.1111/cge.14410. Epub 2023 Aug 14. Clin Genet. 2023. PMID: 37580112
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by NF1 loss in Schwann cells and skeletal stem/progenitor cells.
Perrin S, Protic S, Bretegnier V, Laurendeau I, de Lageneste OD, Panara N, Ruckebusch O, Luka M, Masson C, Maillard T, Coulpier F, Pannier S, Wicart P, Hadj-Rabia S, Radomska KJ, Zarhrate M, Ménager M, Vidaud D, Topilko P, Parfait B, Colnot C. Perrin S, et al. Among authors: hadj rabia s. Sci Transl Med. 2024 Jun 26;16(753):eadj1597. doi: 10.1126/scitranslmed.adj1597. Epub 2024 Jun 26. Sci Transl Med. 2024. PMID: 38924432 Free article.
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: hadj rabia s. 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.
Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update.
Peschel N, Wright JT, Koster MI, Clarke AJ, Tadini G, Fete M, Hadj-Rabia S, Sybert VP, Norderyd J, Maier-Wohlfart S, Fete TJ, Pagnan N, Visinoni AF, Schneider H. Peschel N, et al. Among authors: hadj rabia s. Genes (Basel). 2022 Dec 10;13(12):2327. doi: 10.3390/genes13122327. Genes (Basel). 2022. PMID: 36553593 Free PMC article.
Do the Side Effects of BRAF Inhibitors Mimic RASopathies?
Sfecci A, Dupuy A, Dinulescu M, Droitcourt C, Adamski H, Hadj-Rabia S, Odent S, Galibert MD, Boussemart L. Sfecci A, et al. Among authors: hadj rabia s. J Invest Dermatol. 2017 Apr;137(4):805-809. doi: 10.1016/j.jid.2016.12.012. J Invest Dermatol. 2017. PMID: 28340684 Free article. Review.
Oculo-Cutaneous Albinism Type 4 (OCA4): Phenotype-Genotype Correlation.
Moreno-Artero E, Morice-Picard F, Lasseaux E, Robert MP, Coste V, Michaud V, Leclerc-Mercier S, Bremond-Gignac D, Arveiler B, Hadj-Rabia S. Moreno-Artero E, et al. Among authors: hadj rabia s. Genes (Basel). 2022 Nov 23;13(12):2198. doi: 10.3390/genes13122198. Genes (Basel). 2022. PMID: 36553465 Free PMC article.
Identification of potential common genetic modifiers of neurofibromas: a genome-wide association study in 1333 patients with neurofibromatosis type 1.
Pacot L, Sabbagh A, Sohier P, Hadjadj D, Ye M, Boland-Auge A, Bacq-Daian D, Laurendeau I, Briand-Suleau A, Deleuze JF, Margueron R, Vidaud M, Ferkal S, Parfait B, Vidaud D; NF-France Network; Pasmant E, Wolkenstein P. Pacot L, et al. Br J Dermatol. 2024 Jan 23;190(2):226-243. doi: 10.1093/bjd/ljad390. Br J Dermatol. 2024. PMID: 37831592
Challenges in Treating Genodermatoses: New Therapies at the Horizon.
Morren MA, Legius E, Giuliano F, Hadj-Rabia S, Hohl D, Bodemer C. Morren MA, et al. Among authors: hadj rabia s. Front Pharmacol. 2022 Jan 5;12:746664. doi: 10.3389/fphar.2021.746664. eCollection 2021. Front Pharmacol. 2022. PMID: 35069188 Free PMC article. Review.
133 results