Atik T - Search Results

1

A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N).

Kutbay NO, Yurekli BS, Onay H, Altay CT, Atik T, Hekimsoy Z, Saygili F, Akinci B. Kutbay NO, et al. Among authors: atik t. Eur J Intern Med. 2016 Apr;29:37-9. doi: 10.1016/j.ejim.2015.12.012. Epub 2016 Jan 7. Eur J Intern Med. 2016. PMID: 26775134

2

Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.

Ramzan M, Duman D, Hendricks LCP, Guo S, Mutlu A, Kalcioglu MT, Seyhan S, Carranza C, Bonyadi M, Mahdieh N, Yildirim-Baylan M, Figueroa-Ildefonso E, Alper O, Atik T, Ayral A, Bozan N, Balta B, Rivas C, Manzoli GN, Huesca-Hernandez F, Kuchay RAH, Durgut M, Bademci G, Tekin M. Ramzan M, et al. Among authors: atik t. J Hum Genet. 2023 Oct;68(10):657-669. doi: 10.1038/s10038-023-01159-9. Epub 2023 May 22. J Hum Genet. 2023. PMID: 37217689

3

A novel mutation in two families with pycnodysostosis.

Ozdemir TR, Atik T, Karaca E, Onay H, Ozkinay F, Cogulu O. Ozdemir TR, et al. Among authors: atik t. Clin Dysmorphol. 2013 Jul;22(3):102-105. doi: 10.1097/MCD.0b013e3283619632. Clin Dysmorphol. 2013. PMID: 23689398 No abstract available.

4

A new mutation in the TBX5 gene in Holt-Oram syndrome: two cases in the same family and prenatal diagnosis.

Atik T, Dervisoglu H, Onay H, Ozkinay F, Cogulu O. Atik T, et al. J Trop Pediatr. 2014 Jun;60(3):257-9. doi: 10.1093/tropej/fmt109. Epub 2014 Jan 9. J Trop Pediatr. 2014. PMID: 24408148

5

Molecular analysis in X-linked adrenoleukodystrophy patients: identification of a novel mutation.

Durmaz A, Atik T, Onay H, Canda EE, Uçar SK, Bademkıran F, Coker M, Coğulu Ö, Özkınay F. Durmaz A, et al. Among authors: atik t. Metab Brain Dis. 2014 Sep;29(3):809-12. doi: 10.1007/s11011-014-9552-1. Epub 2014 May 1. Metab Brain Dis. 2014. PMID: 24788897

6

Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities.

Akinci B, Koseoglu FD, Onay H, Yavuz S, Altay C, Simsir IY, Ozisik S, Demir L, Korkut M, Yilmaz N, Ozen S, Akinci G, Atik T, Calan M, Secil M, Comlekci A, Demir T. Akinci B, et al. Among authors: atik t. Metabolism. 2015 Sep;64(9):1086-95. doi: 10.1016/j.metabol.2015.06.004. Epub 2015 Jun 10. Metabolism. 2015. PMID: 26139569

7

Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

Ece Solmaz A, Onay H, Atik T, Aykut A, Cerrah Gunes M, Ozalp Yuregir O, Bas VN, Hazan F, Kirbiyik O, Ozkinay F. Ece Solmaz A, et al. Among authors: atik t. Eur J Med Genet. 2015 Dec;58(12):689-94. doi: 10.1016/j.ejmg.2015.10.011. Epub 2015 Oct 27. Eur J Med Genet. 2015. PMID: 26518167

8

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.

Atik T, Onay H, Aykut A, Bademci G, Kirazli T, Tekin M, Ozkinay F. Atik T, et al. PLoS One. 2015 Nov 11;10(11):e0142154. doi: 10.1371/journal.pone.0142154. eCollection 2015. PLoS One. 2015. PMID: 26561413 Free PMC article.

9

Partial lipodystrophy of the limbs in a diabetes clinic setting.

Demir T, Akinci B, Demir L, Altay C, Atik T, Cavdar U, Secil M, Comlekci A. Demir T, et al. Among authors: atik t. Prim Care Diabetes. 2016 Aug;10(4):293-9. doi: 10.1016/j.pcd.2015.12.006. Epub 2016 Jan 8. Prim Care Diabetes. 2016. PMID: 26776282

10

Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

Atik T, Aykut A, Hazan F, Onay H, Goksen D, Darcan S, Tukun A, Ozkinay F. Atik T, et al. Indian J Pediatr. 2016 Jun;83(6):517-21. doi: 10.1007/s12098-015-1998-6. Epub 2016 Jan 28. Indian J Pediatr. 2016. PMID: 26817465

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