Search Results - "Özdemir, Taha R."

Impact of next‐generation sequencing panels in the evaluation of limb‐girdle muscular dystrophies by Özyilmaz, Berk, Kirbiyik, Özgür, Özdemir, Taha R., Kaya Özer, Özge, Kutbay, Yaşar B., Erdogan, Kadri M., Güvenç, Merve Saka, Kale, Murat Yildirim, Gazeteci, Hande, Kiliç, Betül, Sertpoyraz, Filiz, Diniz, Gulden, Baydan, Figen, Gençpinar, Pinar, Dündar, Nihal Olgaç, Yiş, Uluç

“…Introduction Limb‐girdle muscular dystrophy (LGMD) is the fourth most common muscular dystrophy, with progressive proximal muscle weakness. However, a large…”
Get full text

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY) by Özdemir, Taha R, Kırbıyık, Özgür, Dündar, Bumin N, Abacı, Ayhan, Kaya, Özge Ö, Çatlı, Gönül, Özyılmaz, Berk, Acar, Sezer, Koç, Altuğ, Güvenç, Merve S, Kutbay, Yaşar B, Erdoğan, Kadri M

“…Background Maturity-onset diabetes of the young (MODY) is a common form of monogenic diabetes. Fourteen genes have been identified, each leading to cause a…”
Get more information

Targeted fetal cell‐free DNA screening for aneuploidies in 4,594 pregnancies: Single center study by Koc, Altug, Ozer Kaya, Ozge, Ozyilmaz, Berk, Kutbay, Yasar B., Kirbiyik, Ozgur, Ozdemir, Taha R., Erdogan, Kadri M., Saka Guvenc, Merve, Oztekin, Deniz C., Ozeren, Mehmet, Pala, Halil G., Ekin, Atalay, Gezer, Cenk, Sahingoz Yildirim, Alkim G., Konuralp Atakul, Bahar, Kurtulmus, Secil, Turhan, Ugur, Taner, Cuneyt E.

“…Background Next‐generation sequencing (NGS) and discovery of fetal cell‐free DNA (cfDNA) in the maternal circulation render possible prenatal screening for…”
Get full text

Experiences in the molecular genetic and histopathological evaluation of calpainopathies by Ozyilmaz, Berk, Kirbiyik, Ozgur, Ozdemir, Taha R., Ozer, Ozge Kaya, Kutbay, Yasar B., Erdogan, Kadri M., Guvenc, Merve Saka, Arıkan, Şener, Turk, Tuba Sozen, Kale, Murat Yıldırım, Uludag, Irem Fatma, Baydan, Figen, Sertpoyraz, Filiz, Gencpinar, Pinar, Diniz, Gulden

“…Calpainopathy is mainly characterized by symmetric and progressive weakness of proximal muscles. Several reports showed that the most common LGMD subtype is…”
Get full text

Molecular genetic evaluation of NLRP3, MVK and TNFRSF1A associated periodic fever syndromes by Ozyilmaz, Berk, Kirbiyik, Ozgur, Koc, Altug, Ozdemir, Taha R., Kaya Ozer, Ozge, Kutbay, Yasar B., Erdogan, Kadri M., Saka Guvenc, Merve, Ozturk, Can

“…Periodic fever syndromes (PFSs) are a family of clinical disorders, which are characterized by recurrent episodes of fever in the absence of microbial,…”
Get full text

Fetal HLA-G alleles and their effect on miscarriage by Koc, Altug, Kirbiyik, Ozgur, Kutbay, Yasar B, Ozyilmaz, Berk, Ozdemir, Taha R, Kaya, Ozge Ozer, Kubat, Gozde, Koc, Zeynep Peker

“…Immunosuppression at the feto-maternal interface is crucial for a successful pregnancy outcome. Human leukocyte antigen-G (HLA-G) seems to be a major…”
Get full text

The Efficiency of SNP-Based Microarrays in the Detection of Copy-Neutral Events at 15q11.2 and 11p15.5 Loci by Ozyilmaz, Berk, Kirbiyik, Ozgur, Ozdemir, Taha R, Kaya, Ozge Ozer, Kutbay, Yasar B, Erdogan, Kadri M, Guvenc, Merve Saka, Koc, Altug

“…Prader-Willi, Angelman, Beckwith-Wiedemann, and Russell-Silver are imprinting syndromes. In this study, we aimed to compare the efficiency of single nucleotide…”
Get full text

A novel mutation in two families with pycnodysostosis by Ozdemir, Taha R., Atik, Tahir, Karaca, Emin, Onay, Huseyin, Ozkinay, Ferda, Cogulu, Ozgur

Get full text

Molecular genetic evaluation of NLRP 3, MVK and TNFRSF 1A associated periodic fever syndromes by Ozyilmaz, Berk, Kirbiyik, Ozgur, Koc, Altug, Ozdemir, Taha R., Kaya Ozer, Ozge, Kutbay, Yasar B., Erdogan, Kadri M., Saka Guvenc, Merve, Ozturk, Can

“…Abstract Periodic fever syndromes ( PFS s) are a family of clinical disorders, which are characterized by recurrent episodes of fever in the absence of…”
Get full text