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Page 1
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R. Issler N, et al. Among authors: dumitriu s. J Am Soc Nephrol. 2022 Apr;33(4):732-745. doi: 10.1681/ASN.2021101312. Epub 2022 Feb 11. J Am Soc Nephrol. 2022. PMID: 35149593 Free PMC article.
Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure.
Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C, Laing C, Wiesner J, Devi S, Zhou W, Schmitt R, Tegtmeier I, Sterner C, Doellerer H, Renner K, Oefner PJ, Dettmer K, Simbuerger JM, Witzgall R, Stanescu HC, Dumitriu S, Iancu D, Patel V, Mozere M, Tekman M, Jaureguiberry G, Issler N, Kesselheim A, Walsh SB, Gale DP, Howie AJ, Martins JR, Hall AM, Kasgharian M, O'Brien K, Ferreira CR, Atwal PS, Jain M, Hammers A, Charles-Edwards G, Choe CU, Isbrandt D, Cebrian-Serrano A, Davies B, Sandford RN, Pugh C, Konecki DS, Povey S, Bockenhauer D, Lichter-Konecki U, Gahl WA, Unwin RJ, Warth R, Kleta R. Reichold M, et al. Among authors: dumitriu s. J Am Soc Nephrol. 2018 Jul;29(7):1849-1858. doi: 10.1681/ASN.2017111179. Epub 2018 Apr 13. J Am Soc Nephrol. 2018. PMID: 29654216 Free PMC article.
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D. Cabezas OR, et al. Among authors: dumitriu s. J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3. J Am Soc Nephrol. 2017. PMID: 28373276 Free PMC article.
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16.
Parrock S, Hussain S, Issler N, Differ AM, Lench N, Guarino S, Oosterveld MJ, Keijzer-Veen M, Brilstra E, van Wieringen H, Konijnenberg AY, Amin-Rasip S, Dumitriu S, Klootwijk E, Knoers N, Bockenhauer D, Kleta R, Zdebik AA. Parrock S, et al. Among authors: dumitriu s. Nephron Physiol. 2013;123(3-4):7-14. doi: 10.1159/000356353. Epub 2013 Nov 2. Nephron Physiol. 2013. PMID: 24193250 Free article.
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.
Pêgo SPB, Coletta RD, Dumitriu S, Iancu D, Albanyan S, Kleta R, Auricchio MT, Santos LA, Rocha B, Martelli-Júnior H. Pêgo SPB, et al. Among authors: dumitriu s. Oral Surg Oral Med Oral Pathol Oral Radiol. 2017 Feb;123(2):229-234.e2. doi: 10.1016/j.oooo.2016.09.226. Epub 2016 Oct 13. Oral Surg Oral Med Oral Pathol Oral Radiol. 2017. PMID: 28086997
The Role of Social Responsibility and Ethics in Employees' Wellbeing.
Bocean CG, Nicolescu MM, Cazacu M, Dumitriu S. Bocean CG, et al. Among authors: dumitriu s. Int J Environ Res Public Health. 2022 Jul 21;19(14):8838. doi: 10.3390/ijerph19148838. Int J Environ Res Public Health. 2022. PMID: 35886689 Free PMC article.
PhenomeCentral: 7 years of rare disease matchmaking.
Osmond M, Hartley T, Johnstone B, Andjic S, Girdea M, Gillespie M, Buske O, Dumitriu S, Koltunova V, Ramani A, Boycott KM, Brudno M. Osmond M, et al. Among authors: dumitriu s. Hum Mutat. 2022 Jun;43(6):674-681. doi: 10.1002/humu.24348. Epub 2022 Feb 22. Hum Mutat. 2022. PMID: 35165961
57 results