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Page 1
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Among authors: constantinescu a. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
Clinical presentation and management of nephrotic syndrome in the first year of life: A report from the Pediatric Nephrology Research Consortium.
Constantinescu AR, Mattoo TK, Smoyer WE, Greenbaum LA, Niu J, Howard N, Muff-Luett M, Benoit EB, Traum A, Annaim AA, Wenderfer SE, Plautz E, Rheault MN, Myette RL, Twombley KE, Kamigaki Y, Wandique-Rapalo B, Kallash M, Vasylyeva TL. Constantinescu AR, et al. Front Pediatr. 2022 Sep 14;10:988945. doi: 10.3389/fped.2022.988945. eCollection 2022. Front Pediatr. 2022. PMID: 36210940 Free PMC article.
Diagnosis, Treatment, and Outcomes in Children With Congenital Nephrogenic Diabetes Insipidus: A Pediatric Nephrology Research Consortium Study.
D'Alessandri-Silva C, Carpenter M, Ayoob R, Barcia J, Chishti A, Constantinescu A, Dell KM, Goodwin J, Hashmat S, Iragorri S, Kaspar C, Mason S, Misurac JM, Muff-Luett M, Sethna C, Shah S, Weng P, Greenbaum LA, Mahan JD. D'Alessandri-Silva C, et al. Among authors: constantinescu a. Front Pediatr. 2020 Jan 21;7:550. doi: 10.3389/fped.2019.00550. eCollection 2019. Front Pediatr. 2020. PMID: 32039113 Free PMC article.
Case Report: Cystinuria and Polycystic Kidney Disease.
Sidhu A, Mittal A, Negroni-Balasquide X, Constantinescu A, Kozakowski K. Sidhu A, et al. Among authors: constantinescu a. Pediatrics. 2016 Dec;138(6):e20160674. doi: 10.1542/peds.2016-0674. Epub 2016 Nov 15. Pediatrics. 2016. PMID: 27940671 Review.
Renal Survival in Children with Glomerulonephritis with Crescents: A Pediatric Nephrology Research Consortium Cohort Study.
Maliakkal JG, Hicks MJ, Michael M, Selewski DT, Twombley K, Rheault MN, Seamon M, Misurac JM, Tran CL, Reyes L, Flynn JT, Onder AM, Constantinescu AR, Singh V, Pan C, Omoloja A, Wu Q, Smoyer WE, Hidalgo G, Wenderfer SE. Maliakkal JG, et al. Among authors: constantinescu ar. J Clin Med. 2020 Jul 26;9(8):2385. doi: 10.3390/jcm9082385. J Clin Med. 2020. PMID: 32722612 Free PMC article.
432 results