Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Ahmet Cevdet-Ceylan"'
Autor:
Cavit Ceylan, Omer Gokhan-Doluoglu, Sedat Taştemur, Ibrahim Keleş, Gulay Ceylan, Ahmet Cevdet-Ceylan, Emre Uzun, Eda Tokat
Publikováno v:
Cirugía y Cirujanos, Vol 91, Iss 4 (2023)
Objetivo: Investigar si el polimorfismo de la proteína cinasa 2 que interactúa con el homeodominio (HIPK2) está asociado con la formación de cálculos renales en una población turca. Método: Se inscribieron en el estudio 129 pacientes con nefro
Externí odkaz:
https://doaj.org/article/347cc8c405684e3eaaf62858db2d8117
Publikováno v:
Turkish Journal of Plastic Surgery, Vol 28, Iss 3, Pp 176-179 (2020)
Introduction: Van der Woude syndrome (VWS) is characterized by cleft palate, cleft lip, and lower-lip pits. Interferon regulatory factor 6 (IRF6) gene mutations have been reported as the cause of VWS. Subjects and Methods: Full stories of the affecte
Externí odkaz:
https://doaj.org/article/fd5e537b43c048ffb641f237c75f51b1
Autor:
Burcu Civelek Ürey, Ahmet Cevdet Ceylan, Büşranur Çavdarlı, Ayşegül Neşe Çıtak Kurt, Oya Kıreker Köylü, Burak Yürek, Çiğdem Seher Kasapkara
Publikováno v:
Molecular Syndromology. 14:171-174
Introductıon: Succinate dehydrogenase deficiency, also known as mitochondrial complex II deficiency, is a rare inborn error of metabolism, accounting for approximately 2% of mitochondrial disease. Mutations in the four genes SDHA, B, C,and D have be
Autor:
Ahmet Cevdet Ceylan, Senol Citli, Haktan Bagis Erdem, Ibrahim Sahin, Elif Acar Arslan, Murat Erdogan
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-9 (2018)
Abstract Background Chromosomal microarray analysis is a first-stage test that is used for the diagnosis of intellectual disability and global developmental delay. Chromosomal microarray analysis can detect well-known microdeletion syndromes. It also
Externí odkaz:
https://doaj.org/article/b8828a53ac01469e9274f04ea1d966f7
Autor:
Büşranur, Çavdarlı, Özlem Yayici, Köken, Saide Betül Arslan, Satılmış, Şule, Bilen, Didem, Ardıçlı, Ahmet Cevdet, Ceylan, Cavidan Nur Semerci, Gündüz, Haluk, Topaloğlu
Publikováno v:
Annals of Human Genetics. 87:104-114
Muscular dystrophies are a heterogeneous group of neuromuscular disorders with a wide range of the clinical and genetic spectrum. Whole-exome sequencing (WES) has been on the rise to become the usual method of choice for molecular diagnosis in patien
Autor:
Çiğdem Seher Kasapkara, Ahmet Cevdet Ceylan, Deniz Yılmaz, Oya Kıreker Köylü, Burak Yürek, Burcu Civelek Ürey, Mehmet Gündüz
Publikováno v:
Molecular Syndromology. 14:30-34
Introduction: Neuronal ceroid lipofuscinoses (NCLs) are a broad class of inherited lysosomal storage disorders. Known mutations in at least 13 different genes can result in NCL with variable ages of onset, symptoms, and pathologic findings. Generally
Autor:
Ilknur Surucu Kara, Ummuhan Oncul, Engin Kose, Husnu Mutlu Turan, Ahmet Cevdet Ceylan, Fatma Tuba Eminoglu
Publikováno v:
Mol Syndromol
Introduction: Hypotonia-cystinuria syndrome is a contiguous gene deletion syndrome that is characterized by hypotonia, developmental delay, and cystinuria type A. We present a male patient who was admitted to our center with clinical findings of hypo
Autor:
Ayşenur Engin Erdal, Ahmet Cevdet Ceylan, Kıvılcım Gücüyener, Rıdvan Murat Öktem, Oya Kıreker Köylü, Çiğdem Seher Kasapkara
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism.
Objectives Asparagine-dependent glycosylation 11-congenital disorders of glycosylation (ALG11-CDG) is a rare autosomal recessive N-glycosylation defect with multisystem involvement particularly neurological symptoms such as epilepsy and neuromotor de
Publikováno v:
Journal of Ankara University Faculty of Medicine. 74:365-369
Publikováno v:
Molecular Syndromology. 13:159-164
In this study, we report the first known Turkish case of a novel nonsense mutation c.2453dupT (p.M818fs*28) in the KMT2B (NM_014727.2) gene diagnosed in a male patient with KMT2B-related dystonia (DYT-KMT2B, DYT-28, Dystonia*-28), which is a complex,