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A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
Carapito R, Paul N, Untrau M, Le Gentil M, Ott L, Alsaleh G, Jochem P, Radosavljevic M, Le Caignec C, David A, Damier P, Isidor B, Bahram S. Carapito R, et al. Among authors: radosavljevic m. Mov Disord. 2015 Mar;30(3):423-7. doi: 10.1002/mds.26115. Epub 2014 Dec 27. Mov Disord. 2015. PMID: 25545163
Homozygous IL36RN mutation and NSD1 duplication in a patient with severe pustular psoriasis and symptoms unrelated to deficiency of interleukin-36 receptor antagonist.
Carapito R, Isidor B, Guerouaz N, Untrau M, Radosavljevic M, Launay E, Cassagnau E, Frenard C, Aubert H, Romefort B, Le Caignec C, Ott L, Paul N, Barbarot S, Bahram S. Carapito R, et al. Among authors: radosavljevic m. Br J Dermatol. 2015 Jan;172(1):302-5. doi: 10.1111/bjd.13261. Epub 2014 Dec 8. Br J Dermatol. 2015. PMID: 25039711 No abstract available.
High diversity of MIC genes in non-human primates.
Meyer A, Carapito R, Ott L, Radosavljevic M, Georgel P, Adams EJ, Parham P, Bontrop RE, Blancher A, Bahram S. Meyer A, et al. Among authors: radosavljevic m. Immunogenetics. 2014 Oct;66(9-10):581-7. doi: 10.1007/s00251-014-0791-4. Epub 2014 Jul 31. Immunogenetics. 2014. PMID: 25073428
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features.
Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Müller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Béné MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S. Carapito R, et al. Among authors: radosavljevic m. J Clin Invest. 2017 Nov 1;127(11):4090-4103. doi: 10.1172/JCI92876. Epub 2017 Oct 3. J Clin Invest. 2017. PMID: 28972538 Free PMC article.
In vivo immunogenetics: from MIC to RAET1 loci.
Radosavljevic M, Bahram S. Radosavljevic M, et al. Immunogenetics. 2003 Apr;55(1):1-9. doi: 10.1007/s00251-003-0546-0. Epub 2003 Mar 20. Immunogenetics. 2003. PMID: 12715243 Review.
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.
Castro CN, Rosenzwajg M, Carapito R, Shahrooei M, Konantz M, Khan A, Miao Z, Groß M, Tranchant T, Radosavljevic M, Paul N, Stemmelen T, Pitoiset F, Hirschler A, Nespola B, Molitor A, Rolli V, Pichot A, Faletti LE, Rinaldi B, Friant S, Mednikov M, Karauzum H, Aman MJ, Carapito C, Lengerke C, Ziaee V, Eyaid W, Ehl S, Alroqi F, Parvaneh N, Bahram S. Castro CN, et al. Among authors: radosavljevic m. J Exp Med. 2020 Dec 7;217(12):e20192275. doi: 10.1084/jem.20192275. J Exp Med. 2020. PMID: 32766723 Free PMC article.
Polymorphisms in EGFR and IL28B are associated with spontaneous clearance in an HCV-infected Iranian population.
Carapito R, Poustchi H, Kwemou M, Untrau M, Sharifi AH, Merat S, Haj-Sheykholeslami A, Jabbari H, Esmaili S, Michel S, Toussaint J, Le Gentil M, Ansari-Moghaddam A, Radosavljevic M, Etemadi A, Georgel P, Malekzadeh R, Bahram S. Carapito R, et al. Among authors: radosavljevic m. Genes Immun. 2015 Dec;16(8):514-8. doi: 10.1038/gene.2015.38. Epub 2015 Sep 17. Genes Immun. 2015. PMID: 26378651
MIC and other NKG2D ligands: from none to too many.
Bahram S, Inoko H, Shiina T, Radosavljevic M. Bahram S, et al. Among authors: radosavljevic m. Curr Opin Immunol. 2005 Oct;17(5):505-9. doi: 10.1016/j.coi.2005.07.016. Curr Opin Immunol. 2005. PMID: 16087327 Review.
95 results