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Page 1
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: kannengiesser c. Genes Dev. 2024 Sep 19;38(15-16):755-771. doi: 10.1101/gad.352032.124. Genes Dev. 2024. PMID: 39231615 Free PMC article.
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: kannengiesser c. 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.
Is telomere length a predictor of long-term survival in patients with COVID-19 pneumonia?
Bernardinello N, Crestani B, Spagnolo P, Ghanem M, Homps-Legrand M, Morer L, Goletto T, Frija-Masson J, Bancal C, Hurtado-Nedelec M, de Chaisemartin L, Debray MP, Neukirch C, Taillé C, Ba I, Kannengiesser C, Lainey E, Abels A, Vankann L, Beier F, Borie R. Bernardinello N, et al. Among authors: kannengiesser c. Respir Med Res. 2023 Nov;84:101048. doi: 10.1016/j.resmer.2023.101048. Epub 2023 Sep 17. Respir Med Res. 2023. PMID: 37826871 No abstract available.
Liver disease in germline mutations of telomere-related genes: Prevalence, clinical, radiological, pathological features, outcome, and risk factors.
Sidali S, Borie R, Sicre de Fontbrune F, El Husseini K, Rautou PE, Lainey E, Goria O, Crestani B, Cadranel J, Cottin V, Bunel V, Dumortier J, Jacquemin E, Reboux N, Hirschi S, Bourdin A, Meszaros M, Dharancy S, Hilaire S, Mallet V, Reynaud-Gaubert M, Terriou L, Gottrand F, Abou Chahla W, Khan JE, Carrier P, Saliba F, Rubbia-Brandt L, Aubert JD, Elkrief L, de Lédinghen V, Abergel A, Olivier T, Houssel P, Jouneau S, Wemeau L, Bergeron A, Leblanc T, Ollivier-Hourmand I, Nguyen Khac E, Morisse-Pradier H, Ba I, Boileau C, Roudot-Thoraval F, Vilgrain V, Bureau C, Nunes H, Naccache JM, Durand F, Francoz C, Roulot D, Valla D, Paradis V, Kannengiesser C, Plessier A. Sidali S, et al. Among authors: kannengiesser c. Hepatology. 2024 Jun 1;79(6):1365-1380. doi: 10.1097/HEP.0000000000000667. Epub 2023 Nov 6. Hepatology. 2024. PMID: 37934624
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: kannengiesser c. Hum Mol Genet. 2024 Mar 20;33(7):612-623. doi: 10.1093/hmg/ddad210. Hum Mol Genet. 2024. PMID: 38176734
Syndromic genetic causes of pulmonary fibrosis.
Borie R, Ba I, Debray MP, Kannengiesser C, Crestani B. Borie R, et al. Among authors: kannengiesser c. Curr Opin Pulm Med. 2024 Sep 1;30(5):473-483. doi: 10.1097/MCP.0000000000001088. Epub 2024 Jun 19. Curr Opin Pulm Med. 2024. PMID: 38896087 Review.
Haematological features of telomere biology disorders diagnosed in adulthood: A French nationwide study of 127 patients.
Maillet F, Galimard JE, Borie R, Lainey E, Larcher L, Passet M, Plessier A, Leblanc T, Terriou L, Lebon D, Alcazer V, Cathebras P, Loschi M, Wadih AC, Marcais A, Marceau-Renaut A, Couque N, Lioure B, Soulier J, Ba I, Socié G, Peffault de Latour R, Kannengiesser C, Sicre de Fontbrune F. Maillet F, et al. Among authors: kannengiesser c. Br J Haematol. 2024 Nov;205(5):1835-1847. doi: 10.1111/bjh.19767. Epub 2024 Sep 15. Br J Haematol. 2024. PMID: 39279213
Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective.
Papiris SA, Kannengiesser C, Borie R, Kolilekas L, Kallieri M, Apollonatou V, Ba I, Nathan N, Bush A, Griese M, Dieude P, Crestani B, Manali ED. Papiris SA, et al. Among authors: kannengiesser c. Diagnostics (Basel). 2022 Nov 23;12(12):2928. doi: 10.3390/diagnostics12122928. Diagnostics (Basel). 2022. PMID: 36552935 Free PMC article. Review.
142 results