Aytekin C - Search Results

1

Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype.

Kurt Colak F, Eyerci N, Aytekin C, Eksioglu AS. Kurt Colak F, et al. Among authors: aytekin c. Mol Syndromol. 2020 Jul;11(3):157-161. doi: 10.1159/000507562. Epub 2020 Apr 17. Mol Syndromol. 2020. PMID: 32903913 Free PMC article.

2

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis-plus syndrome in two siblings.

Yıldız Y, Koşukcu C, Aygün D, Akçaboy M, Öztek Çelebi FZ, Taşcı Yıldız Y, Şahin G, Aytekin C, Yüksel D, Lay İ, Özgül RK, Dursun A. Yıldız Y, et al. Among authors: aytekin c. Clin Genet. 2021 Sep;100(3):308-317. doi: 10.1111/cge.14002. Epub 2021 Jun 4. Clin Genet. 2021. PMID: 34013567

3

A case of Wiskott-Aldrich syndrome with de novo mutation at exon 4.

Doğu F, Ariga T, Ikincioğullari A, Bozdoğan G, Aytekin C, Metin A, Babacan E. Doğu F, et al. Among authors: aytekin c. Turk J Pediatr. 2006 Jan-Mar;48(1):66-8. Turk J Pediatr. 2006. PMID: 16562789

4

Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2.

de Greef JC, Wang J, Balog J, den Dunnen JT, Frants RR, Straasheijm KR, Aytekin C, van der Burg M, Duprez L, Ferster A, Gennery AR, Gimelli G, Reisli I, Schuetz C, Schulz A, Smeets DFCM, Sznajer Y, Wijmenga C, van Eggermond MC, van Ostaijen-Ten Dam MM, Lankester AC, van Tol MJD, van den Elsen PJ, Weemaes CM, van der Maarel SM. de Greef JC, et al. Among authors: aytekin c. Am J Hum Genet. 2011 Jun 10;88(6):796-804. doi: 10.1016/j.ajhg.2011.04.018. Epub 2011 May 19. Am J Hum Genet. 2011. PMID: 21596365 Free PMC article.

5

The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter study.

Cekic S, Metin A, Aytekin C, Edeer Karaca N, Baris S, Karali Y, Kiykim A, Karakoc Aydıner E, Ozen A, Aslan T, Sevinir B, Aksu G, Kutukculer N, Kilic SS. Cekic S, et al. Among authors: aytekin c. Pediatr Allergy Immunol. 2020 Jul;31(5):528-536. doi: 10.1111/pai.13231. Epub 2020 Mar 9. Pediatr Allergy Immunol. 2020. PMID: 32060950

6

Surfactant for a Patient with Refractory Pyopneumothorax and Acute Respiratory Distress Syndrome Due to Pneumococcal Necrotizing Pneumonia Complicated by a Bronchopleural Fistula.

Ozturk Z, Duman Küçükkuray M, Özdem S, Çınar HG, Aytekin C, Çağlar Ö. Ozturk Z, et al. Among authors: aytekin c. Pediatr Allergy Immunol Pulmonol. 2022 Sep;35(3):120-123. doi: 10.1089/ped.2022.0112. Pediatr Allergy Immunol Pulmonol. 2022. PMID: 36121784

7

Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis.

Tepe ZG, Yazıcı YY, Tank U, Köse LI, Özer M, Aytekin C, Belkaya S. Tepe ZG, et al. Among authors: aytekin c. J Clin Immunol. 2023 Jan;43(1):192-205. doi: 10.1007/s10875-022-01369-4. Epub 2022 Oct 7. J Clin Immunol. 2023. PMID: 36205835 Free PMC article.

8

COVID-19 Induced Hemophagocytic Lymphohistiocytosis in a Patient with Novel Homozygous UNC13D Gene Variant.

Tekeli S, Erman B, Kurucu B, Tanir G, Aytekin C. Tekeli S, et al. Among authors: aytekin c. Klin Padiatr. 2023 Jul;235(4):258-260. doi: 10.1055/a-2081-0522. Epub 2023 Jul 7. Klin Padiatr. 2023. PMID: 37493977 English. No abstract available.

9

Converging disease genes in ICF syndrome: ZBTB24 controls expression of CDCA7 in mammals.

Wu H, Thijssen PE, de Klerk E, Vonk KK, Wang J, den Hamer B, Aytekin C, van der Maarel SM, Daxinger L. Wu H, et al. Among authors: aytekin c. Hum Mol Genet. 2016 Sep 15;25(18):4041-4051. doi: 10.1093/hmg/ddw243. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466202

10

Clinical, immunological features and follow up of 20 patients with dedicator of cytokinesis 8 (DOCK8) deficiency.

Haskologlu S, Kostel Bal S, Islamoglu C, Aytekin C, Guner S, Sevinc S, Keles S, Kendirli T, Ceylaner S, Dogu F, Ikinciogullari A. Haskologlu S, et al. Among authors: aytekin c. Pediatr Allergy Immunol. 2020 Jul;31(5):515-527. doi: 10.1111/pai.13236. Epub 2020 Mar 11. Pediatr Allergy Immunol. 2020. PMID: 32108967 Free PMC article.

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