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Page 1
A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.
Huynh Cong E, Bizet AA, Boyer O, Woerner S, Gribouval O, Filhol E, Arrondel C, Thomas S, Silbermann F, Canaud G, Hachicha J, Ben Dhia N, Peraldi MN, Harzallah K, Iftene D, Daniel L, Willems M, Noel LH, Bole-Feysot C, Nitschké P, Gubler MC, Mollet G, Saunier S, Antignac C. Huynh Cong E, et al. Among authors: daniel l. J Am Soc Nephrol. 2014 Nov;25(11):2435-43. doi: 10.1681/ASN.2013101126. Epub 2014 May 29. J Am Soc Nephrol. 2014. PMID: 24876116 Free PMC article.
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.
Colin E, Huynh Cong E, Mollet G, Guichet A, Gribouval O, Arrondel C, Boyer O, Daniel L, Gubler MC, Ekinci Z, Tsimaratos M, Chabrol B, Boddaert N, Verloes A, Chevrollier A, Gueguen N, Desquiret-Dumas V, Ferré M, Procaccio V, Richard L, Funalot B, Moncla A, Bonneau D, Antignac C. Colin E, et al. Among authors: daniel l. Am J Hum Genet. 2014 Dec 4;95(6):637-48. doi: 10.1016/j.ajhg.2014.10.011. Epub 2014 Nov 13. Am J Hum Genet. 2014. PMID: 25466283 Free PMC article.
Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Among authors: daniel l. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.
Lacoste M, Cai Y, Guicharnaud L, Mounier F, Dumez Y, Bouvier R, Dijoud F, Gonzales M, Chatten J, Delezoide AL, Daniel L, Joubert M, Laurent N, Aziza J, Sellami T, Amar HB, Jarnet C, Frances AM, Daïkha-Dahmane F, Coulomb A, Neuhaus TJ, Foliguet B, Chenal P, Marcorelles P, Gasc JM, Corvol P, Gubler MC. Lacoste M, et al. Among authors: daniel l. J Am Soc Nephrol. 2006 Aug;17(8):2253-63. doi: 10.1681/ASN.2005121303. Epub 2006 Jun 21. J Am Soc Nephrol. 2006. PMID: 16790508
Tubulointerstitial nephritis and Fanconi syndrome in primary biliary cirrhosis.
Lino M, Binaut R, Noël LH, Patey N, Rustin P, Daniel L, Serpaggi J, Varaut A, Vanhille P, Knebelmann B, Grünfeld JP, Fakhouri F. Lino M, et al. Among authors: daniel l. Am J Kidney Dis. 2005 Sep;46(3):e41-6. doi: 10.1053/j.ajkd.2005.05.021. Am J Kidney Dis. 2005. PMID: 16129198 Review.
Crescentic glomerulonephritis in hyper IgD syndrome.
Tsimaratos M, Koné-Paut I, Daniel L, Gubler MC, Dussol B, Picon G. Tsimaratos M, et al. Among authors: daniel l. Pediatr Nephrol. 1999 Feb;13(2):132-4. doi: 10.1007/s004670050579. Pediatr Nephrol. 1999. PMID: 10229000
Kidney Histopathology Can Predict Kidney Function in ANCA-Associated Vasculitides with Acute Kidney Injury Treated with Plasma Exchanges.
Nezam D, Porcher R, Grolleau F, Morel P, Titeca-Beauport D, Faguer S, Karras A, Solignac J, Jourde-Chiche N, Maurier F, Sakhi H, El Karoui K, Mesbah R, Carron PL, Audard V, Ducloux D, Paule R, Augusto JF, Aniort J, Tiple A, Rafat C, Beaudreuil S, Puéchal X, Gobert P, Massy Z, Hanrotel C, Bally S, Martis N, Durel CA, Desbuissons G, Godmer P, Hummel A, Perrin F, Néel A, De Moreuil C, Goulenok T, Guerrot D, Grange S, Foucher A, Deroux A, Cordonnier C, Guilbeau-Frugier C, Modesto-Segonds A, Nochy D, Daniel L, Moktefi A, Rabant M, Guillevin L, Régent A, Terrier B; on behalf of the French Vasculitis Study Group. Nezam D, et al. Among authors: daniel l. J Am Soc Nephrol. 2022 Mar;33(3):628-637. doi: 10.1681/ASN.2021060771. Epub 2022 Jan 24. J Am Soc Nephrol. 2022. PMID: 35074934 Free PMC article.
Kidney Biopsy in Type 2 Diabetes: A Multicenter Cross-Sectional Study.
Chemouny JM, Bobot M, Sannier A, Maisons V, Jourde-Chiche N, Ferriere E, Joly D, Vigneau C, Rioux-Leclercq N, Barba C, Daniel L, Halimi JM, Vrtovsnik F. Chemouny JM, et al. Among authors: daniel l. Am J Nephrol. 2021;52(2):131-140. doi: 10.1159/000514259. Epub 2021 Mar 29. Am J Nephrol. 2021. PMID: 33780924
692 results