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Page 1
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z, Cabrera OA, Hoefele J, Antony D, Wu K, Stuck MW, Micha D, Eguether T, Smith AO, van der Wel NN, Wagner M, Strittmatter L, Beales PL, Jonassen JA, Thiffault I, Cadieux-Dion M, Boyes L, Sharif S, Tüysüz B, Dunstheimer D, Niessen HWM, Devine W, Lo CW, Mitchison HM, Schmidts M, Pazour GJ. Bakey Z, et al. Among authors: tuysuz b. PLoS Genet. 2023 Jun 14;19(6):e1010796. doi: 10.1371/journal.pgen.1010796. eCollection 2023 Jun. PLoS Genet. 2023. PMID: 37315079 Free PMC article.
Testotoxicosis: Report of Two Cases, One with a Novel Mutation in LHCGR Gene.
Özcabı B, Tahmiscioğlu Bucak F, Ceylaner S, Özcan R, Büyükünal C, Ercan O, Tüysüz B, Evliyaoğlu O. Özcabı B, et al. Among authors: tuysuz b. J Clin Res Pediatr Endocrinol. 2015 Sep;7(3):242-8. doi: 10.4274/jcrpe.2067. J Clin Res Pediatr Endocrinol. 2015. PMID: 26831561 Free PMC article.
[Hennekam syndrome].
Erkan T, Kutlu T, Cullu F, Celik M, Demir T, Tüysüz B, Tümay GT. Erkan T, et al. Among authors: tuysuz b. Arch Pediatr. 1998 Dec;5(12):1344-6. doi: 10.1016/s0929-693x(99)80054-2. Arch Pediatr. 1998. PMID: 9885742 French.
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles.
Bertola F, Filocamo M, Casati G, Mort M, Rosano C, Tylki-Szymanska A, Tüysüz B, Gabrielli O, Grossi S, Scarpa M, Parenti G, Antuzzi D, Dalmau J, Di Rocco M, Dionisi Vici C, Okur I, Rosell J, Rovelli A, Furlan F, Rigoldi M, Biondi A, Cooper DN, Parini R. Bertola F, et al. Among authors: tuysuz b. Hum Mutat. 2011 Jun;32(6):E2189-210. doi: 10.1002/humu.21479. Epub 2011 Mar 10. Hum Mutat. 2011. PMID: 21394825
DOCK6 mutations are responsible for a distinct autosomal-recessive variant of Adams-Oliver syndrome associated with brain and eye anomalies.
Sukalo M, Tilsen F, Kayserili H, Müller D, Tüysüz B, Ruddy DM, Wakeling E, Ørstavik KH, Snape KM, Trembath R, De Smedt M, van der Aa N, Skalej M, Mundlos S, Wuyts W, Southgate L, Zenker M. Sukalo M, et al. Among authors: tuysuz b. Hum Mutat. 2015 Jun;36(6):593-8. doi: 10.1002/humu.22795. Epub 2015 Apr 21. Hum Mutat. 2015. PMID: 25824905
Clinical Characteristics and Growth Hormone Treatment in Patients with Prader-Willi Syndrome.
Dağdeviren Çakır A, Baş F, Akın O, Şıklar Z, Özcabı B, Berberoğlu M, Kardelen AD, Bayramoğlu E, Poyrazoğlu Ş, Aydın M, Törel Ergür A, Gökşen D, Bolu S, Aycan Z, Tüysüz B, Ercan O, Evliyaoğlu O. Dağdeviren Çakır A, et al. Among authors: tuysuz b. J Clin Res Pediatr Endocrinol. 2021 Aug 23;13(3):308-319. doi: 10.4274/jcrpe.galenos.2021.2020.0228. Epub 2021 Feb 10. J Clin Res Pediatr Endocrinol. 2021. PMID: 33565750 Free PMC article.
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival.
Hucthagowder V, Morava E, Kornak U, Lefeber DJ, Fischer B, Dimopoulou A, Aldinger A, Choi J, Davis EC, Abuelo DN, Adamowicz M, Al-Aama J, Basel-Vanagaite L, Fernandez B, Greally MT, Gillessen-Kaesbach G, Kayserili H, Lemyre E, Tekin M, Türkmen S, Tuysuz B, Yüksel-Konuk B, Mundlos S, Van Maldergem L, Wevers RA, Urban Z. Hucthagowder V, et al. Among authors: tuysuz b. Hum Mol Genet. 2009 Jun 15;18(12):2149-65. doi: 10.1093/hmg/ddp148. Epub 2009 Mar 25. Hum Mol Genet. 2009. PMID: 19321599 Free PMC article.
179 results