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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.
The ANTENATAL multicentre study to predict postnatal renal outcome in fetuses with posterior urethral valves: objectives and design.
Buffin-Meyer B, Klein J, van der Zanden LFM, Levtchenko E, Moulos P, Lounis N, Conte-Auriol F, Hindryckx A, Wühl E, Persico N, Oepkes D, Schreuder MF, Tkaczyk M, Ariceta G, Fossum M, Parvex P, Feitz W, Olsen H, Montini G, Decramer S, Schanstra JP; ANTENATAL Consortium. Buffin-Meyer B, et al. Clin Kidney J. 2019 Sep 26;13(3):371-379. doi: 10.1093/ckj/sfz107. eCollection 2020 Jun. Clin Kidney J. 2019. PMID: 32699617 Free PMC article.
Prevalence of Novel MAGED2 Mutations in Antenatal Bartter Syndrome.
Legrand A, Treard C, Roncelin I, Dreux S, Bertholet-Thomas A, Broux F, Bruno D, Decramer S, Deschenes G, Djeddi D, Guigonis V, Jay N, Khalifeh T, Llanas B, Morin D, Morin G, Nobili F, Pietrement C, Ryckewaert A, Salomon R, Vrillon I, Blanchard A, Vargas-Poussou R. Legrand A, et al. Among authors: jay n. Clin J Am Soc Nephrol. 2018 Feb 7;13(2):242-250. doi: 10.2215/CJN.05670517. Epub 2017 Nov 16. Clin J Am Soc Nephrol. 2018. PMID: 29146702 Free PMC article.
Clinical and biological assessments of the undervirilized male.
Nicolino M, Bendelac N, Jay N, Forest MG, David M. Nicolino M, et al. Among authors: jay n. BJU Int. 2004 May;93 Suppl 3:20-5. doi: 10.1111/j.1464-410X.2004.04705.x. BJU Int. 2004. PMID: 15086438 Review. No abstract available.
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B, Richard J, Guigonis V, Weber S, König J, Heidet L, Moussaoui N, Vu JP, Faguer S, Casemayou A, Prakash R, Baudouin V, Hogan J, Alexandrou D, Bockenhauer D, Bacchetta J, Ranchin B, Pruhova S, Zieg J, Lahoche A, Okorn C, Antal-Kónya V, Morin D, Becherucci F, Habbig S, Liebau MC, Mauras M, Nijenhuis T, Llanas B, Mekahli D, Thumfart J, Tönshoff B, Massella L, Eckart P, Cloarec S, Cruz A, Patzer L, Roussey G, Vrillon I, Dunand O, Bessenay L, Taroni F, Zaniew M, Louillet F, Bergmann C, Schaefer F, van Eerde AM, Schanstra JP, Decramer S; HNF1B variant study group. Buffin-Meyer B, et al. Kidney Int Rep. 2024 May 16;9(8):2514-2526. doi: 10.1016/j.ekir.2024.05.007. eCollection 2024 Aug. Kidney Int Rep. 2024. PMID: 39156164 Free PMC article.
168 results