Ceylan AC - Search Results

1

A novel homozygous mutation in the USP53 gene as the cause of benign recurrent intrahepatic cholestasis in children: a case report.

Ateş BB, Ceylan AC, Hızal G, Duran F, Doğan HT, Hızlı Ş. Ateş BB, et al. Among authors: ceylan ac. Turk J Pediatr. 2023;65(6):1012-1017. doi: 10.24953/turkjped.2023.367. Turk J Pediatr. 2023. PMID: 38204320 Free article.

2

Sertoli-Leydig cell tumor, thyroid follicular carcinoma and rhabdomyosarcoma of the uterine cervix in a prepubertal girl with pathogenic germline variant in DICER1 gene.

Karnak İ, Ceylan AC, Haliloğlu M, Özön A, Orhan D, Kutluk T. Karnak İ, et al. Among authors: ceylan ac. Turk J Pediatr. 2021;63(3):500-505. doi: 10.24953/turkjped.2021.03.018. Turk J Pediatr. 2021. PMID: 34254496 Free article.

3

A novel missense mutation in the UBE2A gene causes intellectual disability in the large X-linked family.

Arslan Satılmış SB, Kurt EE, Akçay EP, Sazci A, Ceylan AC. Arslan Satılmış SB, et al. Among authors: ceylan ac. J Gene Med. 2021 Feb;23(2):e3307. doi: 10.1002/jgm.3307. Epub 2021 Jan 7. J Gene Med. 2021. PMID: 33368912

4

ALG11-CDG: novel variant and review of the literature.

Erdal AE, Ceylan AC, Gücüyener K, Öktem RM, Kıreker Köylü O, Kasapkara ÇS. Erdal AE, et al. Among authors: ceylan ac. J Pediatr Endocrinol Metab. 2023 Feb 28;36(4):409-413. doi: 10.1515/jpem-2022-0480. Print 2023 Apr 25. J Pediatr Endocrinol Metab. 2023. PMID: 36843332 Review.

5

A New Splice-site Mutation of SPINK5 Gene in the Netherton Syndrome with Different Clinical Features: A Case Report.

Erden E, Ceylan AC, Emre S. Erden E, et al. Among authors: ceylan ac. Balkan J Med Genet. 2020 Aug 26;23(1):91-94. doi: 10.2478/bjmg-2020-0012. eCollection 2020 Jun. Balkan J Med Genet. 2020. PMID: 32953415 Free PMC article.

6

Malonyl coenzyme A decarboxylase deficiency with a novel mutation.

Kasapkara CS, Civelek Ürey B, Ceylan AC, Ünal Uzun Ö, Çetin II. Kasapkara CS, et al. Among authors: ceylan ac. Cardiol Young. 2021 Sep;31(9):1535-1537. doi: 10.1017/S104795112100113X. Epub 2021 Mar 22. Cardiol Young. 2021. PMID: 33745485

7

SLC35A2-CDG: novel variants with two ends of the spectrum.

Kasapkara ÇS, Ceylan AC, Özyürek H, Karakaya Molla G, Civelek Ürey B, Kıreker Köylü O, Küçükçongar Yavaş A, Sönmez FM. Kasapkara ÇS, et al. Among authors: ceylan ac. J Pediatr Endocrinol Metab. 2021 Jun 22;34(9):1185-1189. doi: 10.1515/jpem-2021-0292. Print 2021 Sep 27. J Pediatr Endocrinol Metab. 2021. PMID: 34161696

8

Coexistence of Megaconial Congenital Muscular Dystrophy and Cystinuria: Mimicking Hypotonia-Cystinuria Syndrome.

Surucu Kara I, Oncul U, Kose E, Turan HM, Ceylan AC, Eminoglu FT. Surucu Kara I, et al. Among authors: ceylan ac. Mol Syndromol. 2022 May;13(3):240-245. doi: 10.1159/000520502. Epub 2022 Feb 3. Mol Syndromol. 2022. PMID: 35707590 Free PMC article.

9

Homozygous SLC20A2 mutations cause congenital CMV infection-like phenotype.

Ceylan AC, Kireker Köylü O, Özyürek H, Özaydin E, Yön Mİ, Kasapkara ÇS. Ceylan AC, et al. Acta Neurol Belg. 2023 Oct;123(5):1757-1761. doi: 10.1007/s13760-022-02044-6. Epub 2022 Jul 26. Acta Neurol Belg. 2023. PMID: 35881308

10

CLN3-Associated NCL Case with a Preliminary Diagnosis of Niemann Pick Type C.

Kasapkara ÇS, Ceylan AC, Yılmaz D, Kıreker Köylü O, Yürek B, Civelek Ürey B, Gündüz M. Kasapkara ÇS, et al. Among authors: ceylan ac. Mol Syndromol. 2023 Feb;14(1):30-34. doi: 10.1159/000525100. Epub 2022 Jun 21. Mol Syndromol. 2023. PMID: 36777709 Free PMC article.

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