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Page 1
Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants.
Egbuna O, Zimmerman B, Manos G, Fortier A, Chirieac MC, Dakin LA, Friedman DJ, Bramham K, Campbell K, Knebelmann B, Barisoni L, Falk RJ, Gipson DS, Lipkowitz MS, Ojo A, Bunnage ME, Pollak MR, Altshuler D, Chertow GM; VX19-147-101 Study Group. Egbuna O, et al. Among authors: knebelmann b. N Engl J Med. 2023 Mar 16;388(11):969-979. doi: 10.1056/NEJMoa2202396. N Engl J Med. 2023. PMID: 36920755 Clinical Trial.
French practical guidelines for the diagnosis and management of AA amyloidosis.
Georgin-Lavialle S, Savey L, Buob D, Bastard JP, Fellahi S, Karras A, Boffa JJ, Grateau G; Collaborators; Audard V, Bridoux F, Damade R, Deshayes S, Giurgea I, Granel B, Hachulla E, Hot A, Jaccard A, Knebelmann B, Marciano S, Pelcot F, Sarrabay G, Boursier G, Sellam J, Terre A, Bourguiba R. Georgin-Lavialle S, et al. Among authors: knebelmann b. Rev Med Interne. 2023 Feb;44(2):62-71. doi: 10.1016/j.revmed.2022.12.004. Epub 2023 Jan 23. Rev Med Interne. 2023. PMID: 36759076 Free article. Review.
Effect of urine alkalization on urinary inflammatory markers in cystinuric patients.
Prot-Bertoye C, Jung V, Tostivint I, Roger K, Benoist JF, Jannot AS, Van Straaten A, Knebelmann B, Guerrera IC, Courbebaisse M. Prot-Bertoye C, et al. Among authors: knebelmann b. Clin Kidney J. 2024 Feb 22;17(3):sfae040. doi: 10.1093/ckj/sfae040. eCollection 2024 Mar. Clin Kidney J. 2024. PMID: 38510798 Free PMC article.
HYDROchlorothiazide versus placebo to PROTECT polycystic kidney disease patients and improve their quality of life: study protocol and rationale for the HYDRO-PROTECT randomized controlled trial.
Bais T, Meijer E, Kramers BJ, Vart P, Vervloet M, Salih M, Bammens B, Demoulin N, Todorova P, Müller RU, Halbritter J, Paliege A, Gall EC, Knebelmann B, Torra R, Ong ACM, Karet Frankl FE, Gansevoort RT. Bais T, et al. Among authors: knebelmann b. Trials. 2024 Feb 14;25(1):120. doi: 10.1186/s13063-024-07952-x. Trials. 2024. PMID: 38355627 Free PMC article.
Performance and clinical utility of a new supervised machine-learning pipeline in detecting rare ciliopathy patients based on deep phenotyping from electronic health records and semantic similarity.
Faviez C, Vincent M, Garcelon N, Boyer O, Knebelmann B, Heidet L, Saunier S, Chen X, Burgun A. Faviez C, et al. Among authors: knebelmann b. Orphanet J Rare Dis. 2024 Feb 10;19(1):55. doi: 10.1186/s13023-024-03063-7. Orphanet J Rare Dis. 2024. PMID: 38336713 Free PMC article.
Sparsentan versus Irbesartan in Focal Segmental Glomerulosclerosis.
Rheault MN, Alpers CE, Barratt J, Bieler S, Canetta P, Chae DW, Coppock G, Diva U, Gesualdo L, Heerspink HJL, Inrig JK, Kirsztajn GM, Kohan D, Komers R, Kooienga LA, Lieberman K, Mercer A, Noronha IL, Perkovic V, Radhakrishnan J, Rote W, Rovin B, Tesar V, Trimarchi H, Tumlin J, Wong MG, Trachtman H; DUPRO Steering Committee and DUPLEX Investigators. Rheault MN, et al. N Engl J Med. 2023 Dec 28;389(26):2436-2445. doi: 10.1056/NEJMoa2308550. Epub 2023 Nov 3. N Engl J Med. 2023. PMID: 37921461 Clinical Trial.
VNtyper enables accurate alignment-free genotyping of MUC1 coding VNTR using short-read sequencing data in autosomal dominant tubulointerstitial kidney disease.
Saei H, Morinière V, Heidet L, Gribouval O, Lebbah S, Tores F, Mautret-Godefroy M, Knebelmann B, Burtey S, Vuiblet V, Antignac C, Nitschké P, Dorval G. Saei H, et al. Among authors: knebelmann b. iScience. 2023 Jun 17;26(7):107171. doi: 10.1016/j.isci.2023.107171. eCollection 2023 Jul 21. iScience. 2023. PMID: 37456840 Free PMC article.
A wave of deep intronic mutations in X-linked Alport syndrome.
Boisson M, Arrondel C, Cagnard N, Morinière V, Arkoub ZA, Saei H, Heidet L, Kachmar J, Hummel A, Knebelmann B, Bonnet-Dupeyron MN, Isidor B, Izzedine H, Legrand E, Couarch P, Gribouval O, Bole-Feysot C, Parisot M, Nitschké P, Antignac C, Dorval G. Boisson M, et al. Among authors: knebelmann b. Kidney Int. 2023 Aug;104(2):367-377. doi: 10.1016/j.kint.2023.05.006. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230224 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. 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.
161 results