Özyilmaz B - Search Results

1

Atypical STAT5B deficiency, severe short stature and mild immunodeficiency associated with a novel homozygous STAT5B Variant.

Catli G, Gao W, Foley C, Özyilmaz B, Edeer N, Diniz G, Losekoot M, van Doorn J, Dauber A, Dundar BN, Wit JM, Hwa V. Catli G, et al. Among authors: ozyilmaz b. Mol Cell Endocrinol. 2023 Jan 1;559:111799. doi: 10.1016/j.mce.2022.111799. Epub 2022 Oct 17. Mol Cell Endocrinol. 2023. PMID: 36265659

2

Association between fetal fraction of cell-free DNA and adverse pregnancy outcomes.

Golbasi H, Bayraktar B, Golbasi C, Omeroglu I, Adiyaman D, Alkan KO, Ozdemir TR, Ozer OK, Ozyilmaz B, Ekin A. Golbasi H, et al. Among authors: ozyilmaz b. Arch Gynecol Obstet. 2024 Mar 5. doi: 10.1007/s00404-024-07443-z. Online ahead of print. Arch Gynecol Obstet. 2024. PMID: 38441603

3

An Unusual Presentation of 46,XY Pure Gonadal Dysgenesis: Spontaneous Breast Development and Menstruation.

Çatlı G, Alparslan C, Can PŞ, Akbay S, Kelekçi S, Atik T, Özyılmaz B, Dündar BN. Çatlı G, et al. Among authors: ozyilmaz b. J Clin Res Pediatr Endocrinol. 2015 Jun;7(2):159-62. doi: 10.4274/jcrpe.1919. J Clin Res Pediatr Endocrinol. 2015. PMID: 26316442 Free PMC article.

4

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY).

Özdemir TR, Kırbıyık Ö, Dündar BN, Abacı A, Kaya ÖÖ, Çatlı G, Özyılmaz B, Acar S, Koç A, Güvenç MS, Kutbay YB, Erdoğan KM. Özdemir TR, et al. Among authors: ozyilmaz b. J Pediatr Endocrinol Metab. 2018 Dec 19;31(12):1295-1304. doi: 10.1515/jpem-2018-0184. J Pediatr Endocrinol Metab. 2018. PMID: 30447144

5

Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.

Özyilmaz B, Kirbiyik Ö, Özdemir TR, Kaya Özer Ö, Kutbay YB, Erdogan KM, Güvenç MS, Kale MY, Gazeteci H, Kiliç B, Sertpoyraz F, Diniz G, Baydan F, Gençpinar P, Dündar NO, Yiş U. Özyilmaz B, et al. Ann Hum Genet. 2019 Sep;83(5):331-347. doi: 10.1111/ahg.12319. Epub 2019 May 7. Ann Hum Genet. 2019. PMID: 31066050

6

SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.

Kose M, Canda E, Kagnici M, Aykut A, Adebali O, Durmaz A, Bircan A, Diniz G, Eraslan C, Kose E, Ünalp A, Yılmaz Ü, Ozyilmaz B, Özdemir TR, Atik T, Uçar SK, McFarland R, Taylor RW, Brown GK, Çoker M, Özkınay F. Kose M, et al. Among authors: ozyilmaz b. Mol Genet Metab Rep. 2020 Oct 23;25:100657. doi: 10.1016/j.ymgmr.2020.100657. eCollection 2020 Dec. Mol Genet Metab Rep. 2020. PMID: 33134083 Free PMC article.

7

The Histopathologic Examination of a Second Muscle Biopsy Specimen at a Later Date may Sometimes be the Best Approach to Make a Differential Diagnosis in Neuromuscular Disorders.

Diniz G, Ozyilmaz B, Gokben S. Diniz G, et al. Among authors: ozyilmaz b. Turk Patoloji Derg. 2022;38(1):79-81. doi: 10.5146/tjpath.2019.01512. Turk Patoloji Derg. 2022. PMID: 33432556 Free PMC article. No abstract available.

8

Experiences in the molecular genetic and histopathological evaluation of calpainopathies.

Ozyilmaz B, Kirbiyik O, Ozdemir TR, Ozer OK, Kutbay YB, Erdogan KM, Guvenc MS, Arıkan Ş, Turk TS, Kale MY, Uludag IF, Baydan F, Sertpoyraz F, Gencpinar P, Diniz G. Ozyilmaz B, et al. Neurogenetics. 2022 Apr;23(2):103-114. doi: 10.1007/s10048-022-00687-4. Epub 2022 Feb 14. Neurogenetics. 2022. PMID: 35157181

9

ALK, ROS1 and EGFR status of lung cancers in the Aegean Region of Turkey.

Diniz G, Komurcuoglu B, Ozyilmaz B, Ozguzer A, Yucel N, Kirbiyik O. Diniz G, et al. Among authors: ozyilmaz b. Indian J Pathol Microbiol. 2022 Apr-Jun;65(2):305-310. doi: 10.4103/IJPM.IJPM_1129_20. Indian J Pathol Microbiol. 2022. PMID: 35435363 Free article.

10

The relation between distant metastasis and genetic change type in stage IV lung adenocarcinoma patients at diagnosis.

Ermin S, Batum Ö, Saka Güvenç M, Diniz G, Ayrancı A, Erdoğan KM, Yücel N, Yıldırım E, Özdemir TR, Hacar AG, Güldaval F, Koç A, Aydoğdu Z, Balcı G, Özyılmaz B, Akşit Yaşar H, Özer Kaya Ö, Gayaf M, Kırbıyık Ö, Aksel N, Kutbay YB, Ursavaş TN, Karadeniz G, Polat G, Kömürcüoğlu B, Çırak AK, Yılmaz U. Ermin S, et al. Among authors: ozyilmaz b. Clin Respir J. 2021 Feb;15(2):196-202. doi: 10.1111/crj.13284. Epub 2020 Oct 12. Clin Respir J. 2021. PMID: 32981210

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