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Page 1
Two novel mutations in XYLT2 cause spondyloocular syndrome.
Taylan F, Yavaş Abalı Z, Jäntti N, Güneş N, Darendeliler F, Baş F, Poyrazoğlu Ş, Tamçelik N, Tüysüz B, Mäkitie O. Taylan F, et al. Among authors: yavas abali z. Am J Med Genet A. 2017 Dec;173(12):3195-3200. doi: 10.1002/ajmg.a.38470. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884924
Challenges in the Management of a 7-Year-Old Child with Thyrotropin-Secreting Pituitary Adenoma and the Review of the Literature.
Kirkgoz T, Abali S, Seker A, Gurpinar Tosun B, Eltan M, Helvacioglu D, Haliloglu B, Kaygusuz SB, Yavas Abali Z, Seven Menevse T, Bozkurt S, Ones T, Guran T, Dagcinar A, Bereket A, Turan S. Kirkgoz T, et al. Among authors: abali s, yavas abali z. Horm Res Paediatr. 2023;96(5):527-537. doi: 10.1159/000529070. Epub 2023 Jan 11. Horm Res Paediatr. 2023. PMID: 36630941 Review.
A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel Mutations.
Kardelen AD, Toksoy G, Baş F, Yavaş Abalı Z, Gençay G, Poyrazoğlu Ş, Bundak R, Altunoğlu U, Avcı Ş, Najaflı A, Uyguner O, Karaman B, Başaran S, Darendeliler F. Kardelen AD, et al. Among authors: yavas abali z. J Clin Res Pediatr Endocrinol. 2018 Jul 31;10(3):206-215. doi: 10.4274/jcrpe.0032. Epub 2018 Mar 29. J Clin Res Pediatr Endocrinol. 2018. PMID: 29595516 Free PMC article.
Incidence of Type 1 Diabetes in Children Aged Below 18 Years during 2013-2015 in Northwest Turkey.
Poyrazoğlu Ş, Bundak R, Yavaş Abalı Z, Önal H, Sarıkaya S, Akgün A, Baş S, Abalı S, Bereket A, Eren E, Tarım Ö, Güven A, Yıldız M, Karaman Aksakal D, Yüksel A, Seymen Karabulut G, Hatun Ş, Özgen T, Cesur Y, Azizoğlu M, Dilek E, Tütüncüler F, Papatya Çakır E, Özcabı B, Evliyaoğlu O, Karadeniz S, Dursun F, Bolu S, Arslanoğlu İ, Yeşiltepe Mutlu G, Kırmızıbekmez H, İşgüven P, Üstyol A, Adal E, Uçar A, Cebeci N, Bezen D, Binay Ç, Semiz S, Korkmaz HA, Memioğlu N, Sağsak E, Peltek HN, Yıldız M, Akçay T, Turan S, Güran T, Atay Z, Akcan N, Çizmecioğlu F, Ercan O, Dağdeviren A, Baş F, İşsever H, Darendeliler F. Poyrazoğlu Ş, et al. Among authors: abali s, yavas abali z. J Clin Res Pediatr Endocrinol. 2018 Nov 29;10(4):336-342. doi: 10.4274/jcrpe.0025. Epub 2018 May 23. J Clin Res Pediatr Endocrinol. 2018. PMID: 29789274 Free PMC article.
International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry.
Bacila I, Freeman N, Daniel E, Sandrk M, Bryce J, Ali SR, Yavas Abali Z, Atapattu N, Bachega TA, Balsamo A, Birkebæk N, Blankenstein O, Bonfig W, Cools M, Costa EC, Darendeliler F, Einaudi S, Elsedfy HH, Finken M, Gevers E, Claahsen-van der Grinten HL, Guran T, Güven A, Hannema SE, Higham CE, Iotova V, van der Kamp HJ, Korbonits M, Krone RE, Lichiardopol C, Luczay A, Mendonca BB, Milenkovic T, Miranda MC, Mohnike K, Neumann U, Ortolano R, Poyrazoglu S, Thankamony A, Tomlinson JW, Vieites A, de Vries L, Ahmed SF, Ross RJ, Krone NP. Bacila I, et al. Among authors: yavas abali z. Eur J Endocrinol. 2021 Apr;184(4):553-563. doi: 10.1530/EJE-20-1249. Eur J Endocrinol. 2021. PMID: 33460392 Free article.
Broad-spectrum XX and XY gonadal dysgenesis in patients with a homozygous L193S variant in PPP2R3C.
Cicek D, Warr N, Yesil G, Kocak Eker H, Bas F, Poyrazoglu S, Darendeliler F, Direk G, Hatipoglu N, Eltan M, Yavas Abali Z, Gurpinar Tosun B, Kaygusuz SB, Seven Menevse T, Helvacioglu D, Turan S, Bereket A, Reeves R, Simon M, Mackenzie M, Teboul L, Greenfield A, Guran T. Cicek D, et al. Among authors: yavas abali z. Eur J Endocrinol. 2021 Dec 1;186(1):65-72. doi: 10.1530/EJE-21-0910. Eur J Endocrinol. 2021. PMID: 34714774 Free PMC article.
Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
Akcan N, Uyguner O, Baş F, Altunoğlu U, Toksoy G, Karaman B, Avcı Ş, Yavaş Abalı Z, Poyrazoğlu Ş, Aghayev A, Karaman V, Bundak R, Başaran S, Darendeliler F. Akcan N, et al. Among authors: yavas abali z. J Clin Res Pediatr Endocrinol. 2022 Jun 7;14(2):153-171. doi: 10.4274/jcrpe.galenos.2022.2021-9-19. Epub 2022 Feb 9. J Clin Res Pediatr Endocrinol. 2022. PMID: 35135181 Free PMC article.
37 results