Ayse Kilic - Search Results

Year	Number of Results
2003	1
2005	1
2006	1
2007	4
2008	2
2010	1
2011	3
2012	9
2013	3
2014	4
2015	5
2016	3
2017	7
2018	7
2019	5
2020	8
2021	9
2022	6
2023	3
2024	3

1

A very rare presentation of mitochondrial elongation factor Tu deficiency-TUFM mutation and literature review.

Gokalp S, Inci A, Kilic A, Ozsaydi E, Altun AN, Demir F, Ergin FB, Ozbek MN, Okur I, Ezgu F, Tumer L. Gokalp S, et al. Among authors: kilic a. J Pediatr Endocrinol Metab. 2024 Apr 18. doi: 10.1515/jpem-2023-0569. Online ahead of print. J Pediatr Endocrinol Metab. 2024. PMID: 38630895

2

Endocrinological and metabolic profile of Gaucher disease patients treated with enzyme replacement therapy.

Kilic A, Emecen Sanli M, Ozsaydı Aktasoglu E, Gokalp S, Biberoğlu G, Inci A, Okur I, Suheyl Ezgu F, Tumer L. Kilic A, et al. J Pediatr Endocrinol Metab. 2024 Apr 17;37(5):413-418. doi: 10.1515/jpem-2023-0504. Print 2024 May 27. J Pediatr Endocrinol Metab. 2024. PMID: 38624096

3

Vitamin D constrains inflammation by modulating the expression of key genes on Chr17q12-21.1.

Kilic A, Halu A, De Marzio M, Maiorino E, Duvall MG, Bruggemann TR, Rojas Quintero JJ, Chase R, Mirzakhani H, Sungur AÖ, Koepke J, Nakano T, Peh HY, Krishnamoorthy N, Abdulnour RE, Georgopoulos K, Litonjua AA, Demay M, Renz H, Levy BD, Weiss ST. Kilic A, et al. Elife. 2024 Apr 3;12:RP89270. doi: 10.7554/eLife.89270. Elife. 2024. PMID: 38567749 Free PMC article.

4

Endocrinological, immunological and metabolic features of patients with Fabry disease under therapy.

Emecen Sanli M, Kilic A, Inci A, Okur I, Ezgu F, Tumer L. Emecen Sanli M, et al. Among authors: kilic a. J Pediatr Endocrinol Metab. 2023 May 31;0(0):650-658. doi: 10.1515/jpem-2023-0105. Print 2023 Jul 26. J Pediatr Endocrinol Metab. 2023. PMID: 37257483

5

Parkinsonism mutations in DNAJC6 cause lipid defects and neurodegeneration that are rescued by Synj1.

Jacquemyn J, Kuenen S, Swerts J, Pavie B, Vijayan V, Kilic A, Chabot D, Wang YC, Schoovaerts N, Corthout N, Verstreken P. Jacquemyn J, et al. Among authors: kilic a. NPJ Parkinsons Dis. 2023 Feb 4;9(1):19. doi: 10.1038/s41531-023-00459-3. NPJ Parkinsons Dis. 2023. PMID: 36739293 Free PMC article.

6

Long-Term Experience with Anaphylaxis and Desensitization to Alglucosidase Alfa in Pompe Disease.

Ertoy Karagol HI, Inci A, Terece SP, Kilic A, Demir F, Yapar D, Koken G, Okur I, Ezgu FS, Tumer L, Bakirtas A; Gazi University Enzyme Replacement Therapy Hypersensitivity Study Group. Ertoy Karagol HI, et al. Among authors: kilic a. Int Arch Allergy Immunol. 2023;184(4):370-375. doi: 10.1159/000528343. Epub 2023 Jan 9. Int Arch Allergy Immunol. 2023. PMID: 36623499 Free PMC article.

7

Assessment of auditory functions in patients with hepatic glycogen storage diseases.

Şanlı ME, Gökay NY, Tutar H, Gündüz B, Özsaydı E, Kılıç A, İnci A, Okur İ, Ezgü F, Tümer L. Şanlı ME, et al. Among authors: kilic a. Turk J Pediatr. 2022;64(4):658-670. doi: 10.24953/turkjped.2022.142. Turk J Pediatr. 2022. PMID: 36082640 Free article.

8

Fructose 1,6 bisphosphatase deficiency: outcomes of patients in a single center in Turkey and identification of novel splice site and indel mutations in FBP1.

Emecen Sanli M, Cengiz B, Kilic A, Ozsaydi E, Inci A, Okur I, Tumer L, Lebigot E, Ezgu F. Emecen Sanli M, et al. Among authors: kilic a. J Pediatr Endocrinol Metab. 2022 Feb 18;35(4):497-503. doi: 10.1515/jpem-2021-0732. Print 2022 Apr 26. J Pediatr Endocrinol Metab. 2022. PMID: 35179010

9

Mechanical Compression of Human Airway Epithelial Cells Induces Release of Extracellular Vesicles Containing Tenascin C.

Mwase C, Phung TN, O'Sullivan MJ, Mitchel JA, De Marzio M, Kılıç A, Weiss ST, Fredberg JJ, Park JA. Mwase C, et al. Among authors: kilic a. Cells. 2022 Jan 13;11(2):256. doi: 10.3390/cells11020256. Cells. 2022. PMID: 35053372 Free PMC article.

10

Efficacy of standardized tracheostomy training with a simulation model for healthcare providers: A study by ISPAT team.

Uyan ZS, Atag E, Ergenekon AP, Gokdemir Y, Gokler O, Ay P, Bas İkizoglu N, Cenk M, Erdem Eralp E, Sivrikaya GU, Girit S, Cakir E, Kilic AA, Yazan H, Can Oksay S, Hepkaya E, Kiyan G, Karadag B, Karakoc F, Oktem S. Uyan ZS, et al. Among authors: kilic aa. Pediatr Pulmonol. 2022 Feb;57(2):418-426. doi: 10.1002/ppul.25772. Epub 2021 Nov 30. Pediatr Pulmonol. 2022. PMID: 34821480

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