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Page 1
Mutations in DSTYK and dominant urinary tract malformations.
Sanna-Cherchi S, Sampogna RV, Papeta N, Burgess KE, Nees SN, Perry BJ, Choi M, Bodria M, Liu Y, Weng PL, Lozanovski VJ, Verbitsky M, Lugani F, Sterken R, Paragas N, Caridi G, Carrea A, Dagnino M, Materna-Kiryluk A, Santamaria G, Murtas C, Ristoska-Bojkovska N, Izzi C, Kacak N, Bianco B, Giberti S, Gigante M, Piaggio G, Gesualdo L, Vukic DK, Vukojevic K, Saraga-Babic M, Saraga M, Gucev Z, Allegri L, Latos-Bielenska A, Casu D, State M, Scolari F, Ravazzolo R, Kiryluk K, Al-Awqati Q, D'Agati VD, Drummond IA, Tasic V, Lifton RP, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Among authors: ristoska bojkovska n. N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17. N Engl J Med. 2013. PMID: 23862974 Free PMC article.
Copy-number disorders are a common cause of congenital kidney malformations.
Sanna-Cherchi S, Kiryluk K, Burgess KE, Bodria M, Sampson MG, Hadley D, Nees SN, Verbitsky M, Perry BJ, Sterken R, Lozanovski VJ, Materna-Kiryluk A, Barlassina C, Kini A, Corbani V, Carrea A, Somenzi D, Murtas C, Ristoska-Bojkovska N, Izzi C, Bianco B, Zaniew M, Flogelova H, Weng PL, Kacak N, Giberti S, Gigante M, Arapovic A, Drnasin K, Caridi G, Curioni S, Allegri F, Ammenti A, Ferretti S, Goj V, Bernardo L, Jobanputra V, Chung WK, Lifton RP, Sanders S, State M, Clark LN, Saraga M, Padmanabhan S, Dominiczak AF, Foroud T, Gesualdo L, Gucev Z, Allegri L, Latos-Bielenska A, Cusi D, Scolari F, Tasic V, Hakonarson H, Ghiggeri GM, Gharavi AG. Sanna-Cherchi S, et al. Among authors: ristoska bojkovska n. Am J Hum Genet. 2012 Dec 7;91(6):987-97. doi: 10.1016/j.ajhg.2012.10.007. Epub 2012 Nov 15. Am J Hum Genet. 2012. PMID: 23159250 Free PMC article.
Clinical and laboratory features of Macedonian children with OCRL mutations.
Tasic V, Lozanovski VJ, Korneti P, Ristoska-Bojkovska N, Sabolic-Avramovska V, Gucev Z, Ludwig M. Tasic V, et al. Among authors: ristoska bojkovska n. Pediatr Nephrol. 2011 Apr;26(4):557-62. doi: 10.1007/s00467-010-1758-9. Epub 2011 Jan 20. Pediatr Nephrol. 2011. PMID: 21249396
Cystinuria AA (B): digenic inheritance with three mutations in two cystinuria genes.
Gucev Z, Ristoska-Bojkovska N, Popovska-Jankovic K, Sukarova-Stefanovska E, Tasic V, Plaseska-Karanfilska D, Efremov GD. Gucev Z, et al. Among authors: ristoska bojkovska n. J Genet. 2011 Apr;90(1):157-9. doi: 10.1007/s12041-011-0045-2. J Genet. 2011. PMID: 21677404 Free article. No abstract available.
Renal dysplasia in Bardet-Biedl syndrome.
Ristoska Bojkovska N, Spahiu L, Janchevska A, Gucev ZS, Tasic V. Ristoska Bojkovska N, et al. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015;36(1):211-5. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2015. PMID: 26076793
17 results