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104 results

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Page 1
First clinical description of a pedigree with complete NAF1 deletion.
Galtier J, Dimicoli-Salazar S, Trimouille A, Lainey E, Revy P, Bidet A, Vial Y, Forcade E, Negrier-Leibreich ML, Rivière E, Tinat J, Le Meur N, Ménard C, Pigneux A, Leguay T, Dumas PY, Ibrahima B, Kannengiesser C. Galtier J, et al. Among authors: revy p. Leuk Lymphoma. 2023 Feb;64(2):487-490. doi: 10.1080/10428194.2022.2148377. Epub 2022 Nov 23. Leuk Lymphoma. 2023. PMID: 36416722 No abstract available.
Heterozygous RPA2 variant as a novel genetic cause of telomere biology disorders.
Kochman R, Ba I, Yates M, Pirabakaran V, Gourmelon F, Churikov D, Laffaille M, Kermasson L, Hamelin C, Marois I, Jourquin F, Braud L, Bechara M, Lainey E, Nunes H, Breton P, Penhouet M, David P, Géli V, Lachaud C, Maréchal A, Revy P, Kannengiesser C, Saintomé C, Coulon S. Kochman R, et al. Among authors: revy p. Genes Dev. 2024 Sep 19;38(15-16):755-771. doi: 10.1101/gad.352032.124. Genes Dev. 2024. PMID: 39231615 Free PMC article.
DCLRE1B/Apollo germline mutations associated with renal cell carcinoma impair telomere protection.
Bories C, Lejour T, Adolphe F, Kermasson L, Couvé S, Tanguy L, Luszczewska G, Watzky M, Poillerat V, Garnier P, Groisman R, Ferlicot S, Richard S, Saparbaev M, Revy P, Gad S, Renaud F. Bories C, et al. Among authors: revy p. Biochim Biophys Acta Mol Basis Dis. 2024 Apr;1870(4):167107. doi: 10.1016/j.bbadis.2024.167107. Epub 2024 Feb 29. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38430974 Free article.
Long-term assessment of haematological recovery following somatic genetic rescue in a MYSM1-deficient patient: Implications for in vivo gene therapy.
de Tocqueville S, Martin E, Riller Q, Kermasson L, France B, Magérus A, Rieux-Laucat F, Delhommeau F, Hirsch P, Touzart A, Echalier A, Fischer A, Moshous D, Revy P. de Tocqueville S, et al. Among authors: revy p. Br J Haematol. 2024 Dec;205(6):2349-2354. doi: 10.1111/bjh.19744. Epub 2024 Sep 4. Br J Haematol. 2024. PMID: 39233474 Free PMC article.
Somatic RAP1B gain-of-function variant underlies isolated thrombocytopenia and immunodeficiency.
Benavides-Nieto M, Adam F, Martin E, Boussard C, Lagresle-Peyrou C, Callebaut I, Kauskot A, Repérant C, Feng M, Bordet JC, Castelle M, Morelle G, Brouzes C, Zarhrate M, Panikulam P, Lambert N, Picard C, Bodet D, Rouger-Gaudichon J, Revy P, de Villartay JP, Moshous D. Benavides-Nieto M, et al. Among authors: revy p. J Clin Invest. 2024 Jul 11;134(17):e169994. doi: 10.1172/JCI169994. J Clin Invest. 2024. PMID: 39225097 Free PMC article.
Characterization of novel mutations in the TEL-patch domain of the telomeric factor TPP1 associated with telomere biology disorders.
Bertrand A, Ba I, Kermasson L, Pirabakaran V, Chable N, Lainey E, Ménard C, Kallel F, Picard C, Hadiji S, Coolen-Allou N, Blanchard E, de Villartay JP, Moshous D, Roelens M, Callebaut I, Kannengiesser C, Revy P. Bertrand A, et al. Among authors: revy p. Hum Mol Genet. 2024 Mar 20;33(7):612-623. doi: 10.1093/hmg/ddad210. Hum Mol Genet. 2024. PMID: 38176734
Genetics of human telomere biology disorders.
Revy P, Kannengiesser C, Bertuch AA. Revy P, et al. Nat Rev Genet. 2023 Feb;24(2):86-108. doi: 10.1038/s41576-022-00527-z. Epub 2022 Sep 23. Nat Rev Genet. 2023. PMID: 36151328 Review.
Human anti-smallpox long-lived memory B cells are defined by dynamic interactions in the splenic niche and long-lasting germinal center imprinting.
Chappert P, Huetz F, Espinasse MA, Chatonnet F, Pannetier L, Da Silva L, Goetz C, Mégret J, Sokal A, Crickx E, Nemazanyy I, Jung V, Guerrera C, Storck S, Mahévas M, Cosma A, Revy P, Fest T, Reynaud CA, Weill JC. Chappert P, et al. Among authors: revy p. Immunity. 2022 Oct 11;55(10):1872-1890.e9. doi: 10.1016/j.immuni.2022.08.019. Epub 2022 Sep 20. Immunity. 2022. PMID: 36130603 Free PMC article.
104 results