Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Ferda Ozkınay"'
Autor:
Tahir Atik, Enise Avci Durmusalioglu, Esra Isik, Melis Kose, Seda Kanmaz, Ayca Aykut, Asude Durmaz, Ferda Ozkinay, Ozgur Cogulu
Publikováno v:
BMC Medical Genomics, Vol 17, Iss 1, Pp 1-9 (2024)
Abstract Next-generation sequencing (NGS) coupled with bioinformatic tools has revolutionized the detection of copy number variations (CNVs), which are implicated in the emergence of Mendelian disorders. In this study, we evaluated the diagnostic yie
Externí odkaz:
https://doaj.org/article/a0421072dfa4463f9a6101d635380e82
Autor:
Sema Yıldırım Arslan, Zümrüt Şahbudak Bal, Gizem Güner Özenen, Nimet Melis Bilen, Pınar Yazıcı Özkaya, Ferda Özkınay, Bülent Karapınar, Candan Çiçek, Zafer Kurugöl
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 13, Iss 3, Pp 160-169 (2023)
Objective: It is known that coronavirus disease-2019 (COVID-19) showed a clinical course with milder symptoms in children than in adults. However, a multisystem inflammatory syndrome in children (MIS-C), which developed 2-4 weeks after COVID-19 infec
Externí odkaz:
https://doaj.org/article/a0ef823053eb4ef5961c242456a6e303
Autor:
Sema Yildirim Arslan, MD, Zumrut Sahbudak Bal, MD, Gizem Guner Ozenen, MD, Nimet Melis Bilen, MD, Gulhadiye Avcu, MD, Ece Erci, MD, Zafer Kurugol, MD, Huseyin Gunay, MD, İpek Tamsel, MD, Ferda Ozkinay, MD
Publikováno v:
World Allergy Organization Journal, Vol 17, Iss 2, Pp 100850- (2024)
Background: Bone and joint infections are common in children, particularly those under 10 years of age. While antimicrobial therapy can often successfully treat these infections, surgical drainage may also be necessary. It is important to note that p
Externí odkaz:
https://doaj.org/article/9bf7076bd60642deb4bf1a7e3ff47215
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 11, Iss 3, Pp 286-294 (2021)
Objective: This study aims to determine the effects of the mannose-binding lectin (MBL) gene polymorphism on the clinical and laboratory findings, response to treatment, and progress of patients with acute post-streptococcal glomerulonephritis (APSGN
Externí odkaz:
https://doaj.org/article/ae121d7c84f04e0e995437e6ebd94f76
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 11, Iss 2, Pp 133-138 (2021)
Objective: This study aims to investigate the relationship between peritonitis attacks and mannose-binding lectin (MBL) gene polymorphism in patients undergoing peritoneal dialysis. Method: Codon 54 polymorphism found in exon 1 of the MBL gene was in
Externí odkaz:
https://doaj.org/article/39ae479d508b41a6a2466533445a395f
Autor:
Havva Yazıcı, Ebru Canda, Esra Er, Baris Malbora, Burcu Ozturk Hismi, Huseyin Onay, Serap Aksoylar, Sema Kalkan Uçar, Ferda Ozkinay, Mahmut Çoker
Publikováno v:
Journal of Behçet Uz Children's Hospital, Vol 11, Iss 2, Pp 198-201 (2021)
Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disease due to mutations within the gene IDUA encoding the 'α-L-iduronidase'. The clinical manifestations concern multisystemic involvement. There are two disease modifying therapies, enzym
Externí odkaz:
https://doaj.org/article/c49c72c8015242dba0594fd927bce364
Publikováno v:
Journal of Pediatric Research, Vol 7, Iss 4, Pp 267-272 (2020)
Aim:Structural chromosome 18 anomalies are characterized by multiple congenital anomalies and intellectual disability. In this study, 6 cases with structural anomalies of chromosome 18 diagnosed by using conventional and molecular cytogenetic analyse
Externí odkaz:
https://doaj.org/article/89f845340db14691a5a5c74041cea09a
Autor:
Esra Işık, Hüseyin Onay, Tahir Atik, Aslı Ece Solmaz, Samim Özen, Özgür Çoğulu, Şükran Darcan, Ferda Özkınay
Publikováno v:
JCRPE, Vol 12, Iss 1, Pp 113-116 (2020)
Neurofibromatosis Noonan syndrome (NFNS) is a rare RASopathy syndrome, resulting from NF1 gene mutations. NFNS is characterized by phenotypic features of both neurofibromatosis type 1 (NF1) and Noonan syndrome. Plexiform neurofibromas (PNFs) are an u
Externí odkaz:
https://doaj.org/article/40526ddbe00f4bac84d063f694acf6a0
Autor:
Ebru Canda, Melis Köse, Havva Yazıcı, Esra Er, Cenk Eraslan, Ferda Özkınay, Mahmut Çoker, Sema Kalkan Uçar, Sara Habif, Emin Karaca, Hüseyin Onay
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 39-43 (2018)
Aim:L-2-hydroxyglutaric aciduria (L2HGA) is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene.Materials and Methods:Here we discuss the clinical and molecular characteristics in patients with
Externí odkaz:
https://doaj.org/article/f28b0eb585b54012802d2b794144d65e
Autor:
Ebru Canda, Havva Yazıcı, Esra Er, Sema Kalkan Uçar, Hüseyin Onay, Eser Sözmen, Ferda Özkınay, Mahmut Çoker
Publikováno v:
Journal of Pediatric Research, Vol 5, Iss 1, Pp 22-27 (2018)
Aim:Niemann-Pick disease (NPD) is a lysosomal storage disease caused by an insufficient activity of acid sphingomyelinase (ASM) resulting in the accumulation of sphingomyelin. Type A is an infantile neurovisceral fatal form characterized by hepatospl
Externí odkaz:
https://doaj.org/article/fe633d983dca48cf8341d365d94d4728