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Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
Altunoglu U, Palencia-Campos A, Güneş N, Turgut GT, Nevado J, Lapunzina P, Valencia M, Iturrate A, Otaify G, Elhossini R, Ashour A, K Amin A, Elnahas RF, Fernandez-Nuñez E, Flores CL, Arias P, Tenorio J, Chamorro Fernández CI, Güven Y, Özsu E, Eklioğlu BS, Ibarra-Ramirez M, Diness BR, Burnyte B, Ajmi H, Yüksel Z, Yıldırım R, Ünal E, Abdalla E, Aglan M, Kayserili H, Tuysuz B, Ruiz-Pérez V. Altunoglu U, et al. Among authors: guven y. J Med Genet. 2024 Jun 20;61(7):633-644. doi: 10.1136/jmg-2023-109546. J Med Genet. 2024. PMID: 38531627 Free article.
Enamel-Renal-Gingival syndrome, hypodontia, and a novel FAM20A mutation.
Kantaputra PN, Bongkochwilawan C, Kaewgahya M, Ohazama A, Kayserili H, Erdem AP, Aktoren O, Guven Y. Kantaputra PN, et al. Among authors: guven y. Am J Med Genet A. 2014 Aug;164A(8):2124-8. doi: 10.1002/ajmg.a.36579. Epub 2014 Apr 22. Am J Med Genet A. 2014. PMID: 24756937 No abstract available.
A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis.
Dinckan N, Du R, Akdemir ZC, Bayram Y, Jhangiani SN, Doddapaneni H, Hu J, Muzny DM, Guven Y, Aktoren O, Kayserili H, Boerwinkle E, Gibbs RA, Posey JE, Lupski JR, Uyguner ZO, Letra A. Dinckan N, et al. Among authors: guven y. Am J Med Genet A. 2018 Apr;176(4):1015-1022. doi: 10.1002/ajmg.a.38625. Epub 2018 Feb 13. Am J Med Genet A. 2018. PMID: 29436111 Free PMC article.
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.
Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO. Du R, et al. Among authors: guven y. Hum Genet. 2018 Sep;137(9):689-703. doi: 10.1007/s00439-018-1907-y. Epub 2018 Jul 26. Hum Genet. 2018. PMID: 30046887 Free PMC article.
Characteristic dental pattern with hypodontia and short roots in Fraser syndrome.
Kunz F, Kayserili H, Midro A, de Silva D, Basnayake S, Güven Y, Borys J, Schanze D, Stellzig-Eisenhauer A, Bloch-Zupan A, Zenker M. Kunz F, et al. Among authors: guven y. Am J Med Genet A. 2020 Jul;182(7):1681-1689. doi: 10.1002/ajmg.a.61610. Epub 2020 Jun 2. Am J Med Genet A. 2020. PMID: 32488952
95 results