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23 results

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Page 1
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. 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.
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling.
Tusseau M, Lovšin E, Samaille C, Pescarmona R, Mathieu AL, Maggio MC, Selmanović V, Debeljak M, Dachy A, Novljan G, Janin A, Januel L, Gibier JB, Chopin E, Rouvet I, Goncalves D, Fabien N, Rice GI, Lesca G, Labalme A, Romagnani P, Walzer T, Viel S, Perret M, Crow YJ, Avčin T, Cimaz R, Belot A. Tusseau M, et al. Among authors: samaille c. J Clin Immunol. 2022 Aug;42(6):1310-1320. doi: 10.1007/s10875-022-01287-5. Epub 2022 Jun 7. J Clin Immunol. 2022. PMID: 35670985
Prospective Study of Modifiable Risk Factors of Arterial Hypertension and Left Ventricular Hypertrophy in Pediatric Patients on Hemodialysis.
Borzych-Dużałka D, Shroff R, Ranchin B, Zhai Y, Paglialonga F, Kari JA, Ahn YH, Awad HS, Loza R, Hooman N, Ericson R, Drożdz D, Kaur A, Bakkaloglu SA, Samaille C, Lee M, Tellier S, Thumfart J, Fila M, Warady BA, Schaefer F, Schmitt CP. Borzych-Dużałka D, et al. Among authors: samaille c. Kidney Int Rep. 2024 Mar 18;9(6):1694-1704. doi: 10.1016/j.ekir.2024.03.016. eCollection 2024 Jun. Kidney Int Rep. 2024. PMID: 38899176 Free PMC article.
Townes-Brocks syndrome: genotype-phenotype correlations of SALL1 variants in our series and the literature.
Leduc F, Brunelle P, Escande F, Ramdane N, Bellengier L, Giacomello L, Lefevre C, Mezel A, Samaille C, Sfeir R, Toulemonde P; Rare Disease networks; Manouvrier-Hanu S, Vincent-Delorme C, Petit F, Vanlerberghe C. Leduc F, et al. Among authors: samaille c. Eur J Hum Genet. 2025 May 10. doi: 10.1038/s41431-025-01855-4. Online ahead of print. Eur J Hum Genet. 2025. PMID: 40348827
Real-world evidence on the dosing and safety of C.E.R.A. in pediatric dialysis patients: findings from the International Pediatric Dialysis Network registries.
Kohlhas L, Studer M, Rutten-Jacobs L, Reigner SM, Sander A, Yap HK, Vondrak K, Coccia PA, Cano F, Schmitt CP, Warady BA, Schaefer F; IPDN collaborators. Kohlhas L, et al. Pediatr Nephrol. 2024 Mar;39(3):807-818. doi: 10.1007/s00467-023-05977-z. Epub 2023 Aug 11. Pediatr Nephrol. 2024. PMID: 37566114 Free PMC article.
[Vaccine recommendations for children with idiopathic nephrotic syndrome].
Boyer O, Baudouin V, Bérard É, Biebuyck-Gougé N, Dossier C, Guigonis V, Audard V, Klifa R, Leroy V, Ranchin B, Roussey G, Samaille C, Tellier S, Vrillon I. Boyer O, et al. Among authors: samaille c. Nephrol Ther. 2020 May;16(3):177-183. doi: 10.1016/j.nephro.2019.09.007. Epub 2020 Apr 8. Nephrol Ther. 2020. PMID: 32278737 French.
Uremic Toxin Concentrations are Related to Residual Kidney Function in the Pediatric Hemodialysis Population.
Snauwaert E, Holvoet E, Van Biesen W, Raes A, Glorieux G, Vande Walle J, Roels S, Vanholder R, Askiti V, Azukaitis K, Bayazit A, Canpolat N, Fischbach M, Godefroid N, Krid S, Litwin M, Obrycki L, Paglialonga F, Ranchin B, Samaille C, Schaefer F, Schmitt CP, Spasojevic B, Stefanidis CJ, Van Dyck M, Van Hoeck K, Collard L, Eloot S, Shroff R. Snauwaert E, et al. Among authors: samaille c. Toxins (Basel). 2019 Apr 24;11(4):235. doi: 10.3390/toxins11040235. Toxins (Basel). 2019. PMID: 31022857 Free PMC article.
Nutritional and Anthropometric Indices in Children Receiving Haemodiafiltration vs Conventional Haemodialysis - The HDF, Heart and Height (3H) Study.
Paglialonga F, Monzani A, Prodam F, Smith C, De Zan F, Canpolat N, Agbas A, Bayazit A, Anarat A, Bakkaloglu SA, Askiti V, Stefanidis CJ, Azukaitis K, Bulut IK, Borzych-Dużałka D, Duzova A, Habbig S, Krid S, Licht C, Litwin M, Obrycki L, Ranchin B, Samaille C, Shenoy M, Sinha MD, Spasojevic B, Vidal E, Yilmaz A, Fischbach M, Schaefer F, Schmitt CP, Edefonti A, Shroff R. Paglialonga F, et al. Among authors: samaille c. J Ren Nutr. 2023 Jan;33(1):17-28. doi: 10.1053/j.jrn.2022.07.005. Epub 2022 Jul 21. J Ren Nutr. 2023. PMID: 35870690
Peritoneal Dialysis Access Revision in Children: Causes, Interventions, and Outcomes.
Borzych-Duzalka D, Aki TF, Azocar M, White C, Harvey E, Mir S, Adragna M, Serdaroglu E, Sinha R, Samaille C, Vanegas JJ, Kari J, Barbosa L, Bagga A, Galanti M, Yavascan O, Leozappa G, Szczepanska M, Vondrak K, Tse KC, Schaefer F, Warady BA; International Pediatric Peritoneal Dialysis Network (IPPN) Registry. Borzych-Duzalka D, et al. Among authors: samaille c. Clin J Am Soc Nephrol. 2017 Jan 6;12(1):105-112. doi: 10.2215/CJN.05270516. Epub 2016 Nov 29. Clin J Am Soc Nephrol. 2017. PMID: 27899416 Free PMC article.
Mortality in Children Treated With Maintenance Peritoneal Dialysis: Findings From the International Pediatric Peritoneal Dialysis Network Registry.
Ploos van Amstel S, Noordzij M, Borzych-Duzalka D, Chesnaye NC, Xu H, Rees L, Ha IS, Antonio ZL, Hooman N, Wong W, Vondrak K, Yap YC, Patel H, Szczepanska M, Testa S, Galanti M, Kari JA, Samaille C, Bakkaloglu SA, Lai WM, Rojas LF, Diaz MS, Basu B, Neu A, Warady BA, Jager KJ, Schaefer F. Ploos van Amstel S, et al. Among authors: samaille c. Am J Kidney Dis. 2021 Sep;78(3):380-390. doi: 10.1053/j.ajkd.2020.11.031. Epub 2021 Feb 5. Am J Kidney Dis. 2021. PMID: 33549627 Free article.
23 results