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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome.
Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H. Aksu Uzunhan T, et al. Among authors: altunoglu u. Clin Neurol Neurosurg. 2023 Jan;224:107560. doi: 10.1016/j.clineuro.2022.107560. Epub 2022 Dec 13. Clin Neurol Neurosurg. 2023. PMID: 36580738
Postnatal diagnosis of 22q11.2 deletion syndrome in fetal megalourethra.
Demiroren T, Balci BK, Altunoglu U, Kalelioglu IH, Oktar T, Has R, Yuksel A. Demiroren T, et al. Among authors: altunoglu u. J Ultrasound Med. 2015 Feb;34(2):349-51. doi: 10.7863/ultra.34.2.349. J Ultrasound Med. 2015. PMID: 25614409 No abstract available.
ALX4 related parietal foramina mimicking encephalocele in prenatal period.
Saraç Sivrikoz T, Altunoglu U, Kalelioglu İH, Yüksel A, Uyguner OZ, Has R, Kayserili H. Saraç Sivrikoz T, et al. Among authors: altunoglu u. Prenat Diagn. 2016 Jun;36(6):591-3. doi: 10.1002/pd.4826. Epub 2016 May 17. Prenat Diagn. 2016. PMID: 27080046 No abstract available.
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes.
Roosing S, Romani M, Isrie M, Rosti RO, Micalizzi A, Musaev D, Mazza T, Al-Gazali L, Altunoglu U, Boltshauser E, D'Arrigo S, De Keersmaecker B, Kayserili H, Brandenberger S, Kraoua I, Mark PR, McKanna T, Van Keirsbilck J, Moerman P, Poretti A, Puri R, Van Esch H, Gleeson JG, Valente EM. Roosing S, et al. Among authors: altunoglu u. J Med Genet. 2016 Sep;53(9):608-15. doi: 10.1136/jmedgenet-2016-103832. Epub 2016 May 6. J Med Genet. 2016. PMID: 27208211 Free PMC article.
78 results