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Page 1
Objectivizing issues in the diagnosis of complex rare diseases: lessons learned from testing existing diagnosis support systems on ciliopathies.
Faviez C, Chen X, Garcelon N, Zaidan M, Billot K, Petzold F, Faour H, Douillet M, Rozet JM, Cormier-Daire V, Attié-Bitach T, Lyonnet S, Saunier S, Burgun A. Faviez C, et al. Among authors: billot k. BMC Med Inform Decis Mak. 2024 May 24;24(1):134. doi: 10.1186/s12911-024-02538-8. BMC Med Inform Decis Mak. 2024. PMID: 38789985 Free PMC article.
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping.
Chen X, Garcelon N, Neuraz A, Billot K, Lelarge M, Bonald T, Garcia H, Martin Y, Benoit V, Vincent M, Faour H, Douillet M, Lyonnet S, Saunier S, Burgun A. Chen X, et al. Among authors: billot k. J Biomed Inform. 2019 Dec;100:103308. doi: 10.1016/j.jbi.2019.103308. Epub 2019 Oct 14. J Biomed Inform. 2019. PMID: 31622800 Free article.
The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Among authors: billot k. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.
Garcia H, Serafin AS, Silbermann F, Porée E, Viau A, Mahaut C, Billot K, Birgy É, Garfa-Traore M, Roy S, Ceccarelli S, Mehraz M, Rodriguez PC, Deleglise B, Furio L, Jabot-Hanin F, Cagnard N, Del Nery E, Fila M, Sin-Monnot S, Antignac C, Lyonnet S, Krug P, Salomon R, Annereau JP, Benmerah A, Delous M, Briseño-Roa L, Saunier S. Garcia H, et al. Among authors: billot k. Proc Natl Acad Sci U S A. 2022 May 3;119(18):e2115960119. doi: 10.1073/pnas.2115960119. Epub 2022 Apr 28. Proc Natl Acad Sci U S A. 2022. PMID: 35482924 Free PMC article.
The renal inflammatory network of nephronophthisis.
Quatredeniers M, Bienaimé F, Ferri G, Isnard P, Porée E, Billot K, Birgy E, Mazloum M, Ceccarelli S, Silbermann F, Braeg S, Nguyen-Khoa T, Salomon R, Gubler MC, Kuehn EW, Saunier S, Viau A. Quatredeniers M, et al. Among authors: billot k. Hum Mol Genet. 2022 Jul 7;31(13):2121-2136. doi: 10.1093/hmg/ddac014. Hum Mol Genet. 2022. PMID: 35043953 Free article.
Casein kinase 1ε and 1α as novel players in polycystic kidney disease and mechanistic targets for (R)-roscovitine and (S)-CR8.
Billot K, Coquil C, Villiers B, Josselin-Foll B, Desban N, Delehouzé C, Oumata N, Le Meur Y, Boletta A, Weimbs T, Grosch M, Witzgall R, Saunier S, Fischer E, Pontoglio M, Fautrel A, Mrug M, Wallace D, Tran PV, Trudel M, Bukanov N, Ibraghimov-Beskrovnaya O, Meijer L. Billot K, et al. Am J Physiol Renal Physiol. 2018 Jul 1;315(1):F57-F73. doi: 10.1152/ajprenal.00489.2017. Epub 2018 Mar 14. Am J Physiol Renal Physiol. 2018. PMID: 29537311 Free PMC article.
A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency.
Neven B, Mamessier E, Bruneau J, Kaltenbach S, Kotlarz D, Suarez F, Masliah-Planchon J, Billot K, Canioni D, Frange P, Radford-Weiss I, Asnafi V, Murugan D, Bole C, Nitschke P, Goulet O, Casanova JL, Blanche S, Picard C, Hermine O, Rieux-Laucat F, Brousse N, Davi F, Baud V, Klein C, Nadel B, Ruemmele F, Fischer A. Neven B, et al. Among authors: billot k. Blood. 2013 Nov 28;122(23):3713-22. doi: 10.1182/blood-2013-06-508267. Epub 2013 Oct 2. Blood. 2013. PMID: 24089328 Free article.
ITPR1 protects renal cancer cells against natural killer cells by inducing autophagy.
Messai Y, Noman MZ, Hasmim M, Janji B, Tittarelli A, Boutet M, Baud V, Viry E, Billot K, Nanbakhsh A, Ben Safta T, Richon C, Ferlicot S, Donnadieu E, Couve S, Gardie B, Orlanducci F, Albiges L, Thiery J, Olive D, Escudier B, Chouaib S. Messai Y, et al. Among authors: billot k. Cancer Res. 2014 Dec 1;74(23):6820-32. doi: 10.1158/0008-5472.CAN-14-0303. Epub 2014 Oct 8. Cancer Res. 2014. PMID: 25297632
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