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Page 1
Western diet exacerbates a murine model of Balkan nephropathy.
Oe Y, Kim YC, Kanoo S, Goodluck HA, Lopez N, Diedrich J, Pinto AM, Evensen KG, Currais AJM, Maher P, Vallon V. Oe Y, et al. Among authors: pinto am. Am J Physiol Renal Physiol. 2025 Jan 1;328(1):F15-F28. doi: 10.1152/ajprenal.00185.2024. Epub 2024 Nov 7. Am J Physiol Renal Physiol. 2025. PMID: 39508839
ARID1B-related disorder in 87 adults: Natural history and self-sustainability.
van der Sluijs PJ, Gösgens M, Dingemans AJM, Striano P, Riva A, Mignot C, Faudet A, Vasileiou G, Walther M, Schrier Vergano SA, Alders M, Alkuraya FS, Alorainy I, Alsaif HS, Anderlid B, Bache I, van Beek I, Blanluet M, van Bon BW, Brunet T, Brunner H, Carriero ML, Charles P, Chatron N, Coccia E, Dubourg C, Earl RK, Eichler EE, Faivre L, Foulds N, Graziano C, Guerrot AM, Hashem MO, Heide S, Heron D, Hickey SE, Hopman SMJ, Kattentidt-Mouravieva A, Kerkhof J, Klein Wassink-Ruiter JS, Kurtz-Nelson EC, Kušíková K, Kvarnung M, Lecoquierre F, Leszinski GS, Loberti L, Magoulas PL, Mari F, Maystadt I, Merla G, Milunsky JM, Moortgat S, Nicolas G, Leary MO', Odent S, Ozmore JR, Parbhoo K, Pfundt R, Piccione M, Pinto AM, Popp B, Putoux A, Rehm HL, Reis A, Renieri A, Rosenfeld JA, Rossi M, Salzano E, Saugier-Veber P, Seri M, Severi G, Sonmez FM, Strobl-Wildemann G, Stuurman KE, Uctepe E, Van Esch H, Vitetta G, de Vries BBA, Wahl D, Wang T, Zacher P, Heitink KR, Ropers FG, Steenbeek D, Rybak T, Santen GWE. van der Sluijs PJ, et al. Among authors: pinto am. Genet Med Open. 2024 Jul 23;2:101873. doi: 10.1016/j.gimo.2024.101873. eCollection 2024. Genet Med Open. 2024. PMID: 39669611 Free PMC article.
Slowly progressive autosomal dominant Alport Syndrome due to COL4A3 splicing variant.
Daga S, Loberti L, Rollo G, Adamo L, Colavecchio OL, Brunelli G, Zguro K, Tripodi SA, Guarnieri A, Garosi G, D'Aurizio R, Ariani F, Tita R, Renieri A, Pinto AM. Daga S, et al. Among authors: pinto am. Eur J Hum Genet. 2024 Oct 19. doi: 10.1038/s41431-024-01706-8. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39424670
260 results