Türkyilmaz A - Search Results

1

Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.

Türkyilmaz A, Sager SG, Topcu B, Kaplan AT, Günbey HP, Akin Y. Türkyilmaz A, et al. Clin Dysmorphol. 2022 Jan 1;31(1):45-49. doi: 10.1097/MCD.0000000000000389. Clin Dysmorphol. 2022. PMID: 34538861 No abstract available.

2

Novel clinical features and pleiotropic effect in three unrelated patients with LMNA variant.

Turkyilmaz A, Geçkinli BB, Alavanda C, Ates EA, Arman A. Turkyilmaz A, et al. Clin Dysmorphol. 2021 Jan;30(1):10-16. doi: 10.1097/MCD.0000000000000355. Clin Dysmorphol. 2021. PMID: 33038109

3

A very rare skeletal dysplasia: spondyloepimetaphyseal dysplasia, sponastrime type.

Kalaoglu EE, Turkyilmaz A, Geckinli BB, Arslan Ates E, Mentes A, Arman A. Kalaoglu EE, et al. Among authors: turkyilmaz a. Clin Dysmorphol. 2021 Jul 1;30(3):150-153. doi: 10.1097/MCD.0000000000000371. Clin Dysmorphol. 2021. PMID: 33859079 No abstract available.

4

Secondary findings in 622 Turkish clinical exome sequencing data.

Arslan Ateş E, Türkyilmaz A, Yıldırım Ö, Alavanda C, Polat H, Demir Ş, Çebi AH, Geçkinli BB, Güney Aİ, Ata P, Arman A. Arslan Ateş E, et al. Among authors: turkyilmaz a. J Hum Genet. 2021 Nov;66(11):1113-1119. doi: 10.1038/s10038-021-00936-8. Epub 2021 May 28. J Hum Genet. 2021. PMID: 34050257

5

A novel frameshift variant in proximal exon 18 of KAT6B gene associated with an overlapping genitopatellar/say barber Biesecker-Young-Simpson syndrome phenotype.

Turkyilmaz A, Ozden A. Turkyilmaz A, et al. Clin Dysmorphol. 2021 Oct 1;30(4):197-200. doi: 10.1097/MCD.0000000000000376. Clin Dysmorphol. 2021. PMID: 34074951 No abstract available.

6

Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the ASPM Gene.

Türkyılmaz A, Sager SG. Türkyılmaz A, et al. Mol Syndromol. 2022 Feb;13(1):56-63. doi: 10.1159/000516201. Epub 2021 Sep 15. Mol Syndromol. 2022. PMID: 35221876 Free PMC article.

7

Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.

Karakaya T, Turkyilmaz A, Sager G, Inan R, Yarali O, Cebi AH, Akin Y. Karakaya T, et al. Among authors: turkyilmaz a. Neurogenetics. 2022 Jul;23(3):213-221. doi: 10.1007/s10048-022-00693-6. Epub 2022 May 13. Neurogenetics. 2022. PMID: 35562614

8

Novel LNPK variant causes progressive cerebral atrophy: Expanding the clinical phenotype.

Türkyılmaz A, Sağer SG, Günbey HP, Akın Y. Türkyılmaz A, et al. Clin Genet. 2022 Sep;102(3):218-222. doi: 10.1111/cge.14166. Epub 2022 May 28. Clin Genet. 2022. PMID: 35599435

9

Evaluation of optical coherence tomography findings and visual evoked potentials in Charcot-Marie-Tooth disease.

Kaplan AT, Oskan Yalcin S, Sager SG, Türkyılmaz A, İnan R. Kaplan AT, et al. Among authors: turkyilmaz a. Int Ophthalmol. 2023 Jan;43(1):333-341. doi: 10.1007/s10792-022-02452-w. Epub 2022 Aug 12. Int Ophthalmol. 2023. PMID: 35953577

10

A novel de novo TET3 loss-of-function variant in a Turkish boy presenting with neurodevelopmental delay and electrical status epilepticus during slow-wave sleep.

Sager SG, Turkyilmaz A, Gunbey HP, Karatoprak EY, Aslan ES, Akın Y. Sager SG, et al. Among authors: turkyilmaz a. Brain Dev. 2023 Feb;45(2):140-145. doi: 10.1016/j.braindev.2022.09.004. Epub 2022 Sep 30. Brain Dev. 2023. PMID: 36192301

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