Ellis‐van Creveld syndrome novel pathogenic variant in the EVC2 gene a patient from Turkey

Autor: Özden Öztürk, Muhammer Özgür Çevik, Haydar Bagis, Semih Bolu

Publikováno v: Clinical Case Reports, Vol 9, Iss 4, Pp 1973-1976 (2021)
Clinical Case Reports

Ellis‐van Creveld syndrome 10‐year‐old Turkish girl and her parents were first degree cousins. A novel pathogenic variant (p.Glu1178Glyfs*82) was detected in the EVC2 gene in patient. She had no peg‐shaped teeth, multiple frenula, and limb sh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e65fa9cbee0f9ec19ca26235597a685
https://doaj.org/article/6afd816257614977ad2fcb66ab344d28

Osteogenesis Imperfecta and Split Foot Malformation due to 7q21.2q21.3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature

Autor: Semih Bolu, Haydar Bagis, Özden Öztürk

Publikováno v: Journal of Pediatric Genetics.

Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and psychiatric disorders. Osteogenesis imperfecta caused by whole gene d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::db41c70f90e07bfef0b3fc5b09aba66a
https://doi.org/10.1055/s-0041-1736613

Expression of Vitamin D Receptor and Vitamin D Receptor Gene Polymorphisms (BsmI, FokI, and TaqI) in Patients with Pterygium

Autor: Muhammer Özgür Çevik, Şemsettin Bilak, İbrahim Halil Erdoğdu, Haydar Bagis

Publikováno v: Arquivos Brasileiros de Oftalmologia v.84 n.3 2021
Arquivos brasileiros de oftalmologia
Conselho Brasileiro de Oftalmologia (CBO)
instacron:CBO
Arquivos Brasileiros de Oftalmologia, Vol 84, Iss 3, Pp 241-248 (2021)

Purpose: This study aimed to determine the role of vitamin D receptor in the pathogenesis of pterygium. The vitamin D receptor eexpression levels in pterygium tissue, blood vitamin D levels, and frequency of selected vitamin D receptor gene polymorph

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e34cdd126f823d3b57870585842f3d6
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-27492021000300241

Circulating miR-196a-5p miR-373-3p and miR-375: Novel candidate biomarkers for diagnosis of acute coronary syndrome

Autor: Ebru Dumlupınar, Onder Yumrutas, Haydar Bagis, Mustafa Çetin, Omer Faruk Karacorlu, Ibrahim Bozgeyik

Publikováno v: Meta Gene. 17:1-8

Background Micro RNAs (miRNAs) are key regulators of gene expression and play important roles in the pathogenesis of cardiovascular diseases. We aimed to test whether five novel candidate miRNAs have different expressions in patients with obstructive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3794189a5c90d369aafafc5f4dc41ca8
https://doi.org/10.1016/j.mgene.2018.03.013

Antiproliferative and apoptosis inducing effect of Verbascum inulifolium on MCF-7 breast cancer cell line

Autor: Müfide Aydoğan Ahbab, Onder Yumrutas, Sevda Güzel, Leyla Türker Şener, Işıl Albeniz, Atila Yıldız, Celal Güven, Haydar Bagis, Ibrahim Bozgeyik, Yusuf Özay

Publikováno v: Volume: 9, Issue: 2 203-210
Mersin Üniversitesi Tıp Fakültesi Lokman Hekim Tıp Tarihi ve Folklorik Tıp Dergisi

Verbascum cinsi halk tıbbında geleneksel olarak kullanılanve anti-enflamatuvar, antioksidan ve antibakteriyal aktiviteleri bilinen bircinstir. Verbascum inulifolium türüTürkiye’de yetişen endemik bir türdür. Bu çalışmanın amacı V. inu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b12d3051c474db2e2818cc9a897d94c
https://dergipark.org.tr/tr/pub/mutftd/issue/45341/532710