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Page 1
Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.
Le C, Argilli E, George E, Kalaycı T, Uyguner ZO, Karaman B, Demirören T, DiTroia S, Heron D, Sabatier I, Rodan LH, Girisha KM, Radhakrishnan P, Saunders C, Sullivan B, Fleming E, Alvi JR, Sultan T, Houlden H, Efthymiou S, Sacoto MJG, Goodman M, Pierron L, De Sainte-Agathe JM, Durr A, Sherr EH. Le C, et al. Among authors: karaman b. medRxiv [Preprint]. 2024 Dec 17:2024.10.11.24312856. doi: 10.1101/2024.10.11.24312856. medRxiv. 2024. PMID: 39502664 Free PMC article. Preprint.
Fetal skeletal dysplasia cohort of a single tertiary referral center in Istanbul, Turkey.
Kalayci T, Altunoglu U, Çorbacioglu Esmer A, Avcı Ş, Sarac Sivrikoz T, Karaman B, Kalelioğlu İ, Has R, Uyguner ZO, Yüksel A, Başaran S, Kayserili H. Kalayci T, et al. Among authors: karaman b. Am J Med Genet A. 2023 Feb;191(2):498-509. doi: 10.1002/ajmg.a.63050. Epub 2022 Nov 17. Am J Med Genet A. 2023. PMID: 36398383
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta.
Senturk L, Gulec C, Sarac Sivrikoz T, Kayserili H, Kalelioglu IH, Avci S, Has R, Coucke P, Kalayci T, Wollnik B, Karaman B, Toksoy G, Symoens S, Yigit G, Yuksel A, Basaran S, Tuysuz B, Altunoglu U, Uyguner ZO. Senturk L, et al. Among authors: karaman b. Fetal Diagn Ther. 2024;51(3):285-299. doi: 10.1159/000536324. Epub 2024 Feb 12. Fetal Diagn Ther. 2024. PMID: 38346409
Trichothiodystrophy-associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation.
Theil AF, Pines A, Kalayci T, Heredia-Genestar JM, Raams A, Rietveld MH, Sridharan S, Tanis SE, Mulder KW, Büyükbabani N, Karaman B, Uyguner ZO, Kayserili H, Hoeijmakers JH, Lans H, Demmers JA, Pothof J, Altunoglu U, El Ghalbzouri A, Vermeulen W. Theil AF, et al. Among authors: karaman b. EMBO Mol Med. 2023 Nov 8;15(11):e17973. doi: 10.15252/emmm.202317973. Epub 2023 Oct 6. EMBO Mol Med. 2023. PMID: 37800682 Free PMC article.
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
Baş F, Toksoy G, Ergun-Longmire B, Uyguner ZO, Abalı ZY, Poyrazoğlu Ş, Karaman V, Avcı Ş, Altunoğlu U, Bundak R, Karaman B, Başaran S, Darendeliler F. Baş F, et al. Among authors: karaman b, karaman v. J Steroid Biochem Mol Biol. 2018 Jul;181:88-97. doi: 10.1016/j.jsbmb.2018.04.001. Epub 2018 Apr 4. J Steroid Biochem Mol Biol. 2018. PMID: 29626607
165 results