Zobrazeno 1 - 10
of 34
pro vyhledávání: '"Cevdet-Ceylan A"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e00093c6fd34b671c24d20af9f4310e3
https://doi.org/10.1159/000527538
https://doi.org/10.1159/000527538
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6adb22957c3e7845807875a0fb20f423
https://doi.org/10.1111/ahg.12492
https://doi.org/10.1111/ahg.12492
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1b4766f898142fff7a3cc0ecb27c4a1e
https://doi.org/10.1159/000525100
https://doi.org/10.1159/000525100
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1c52af91e12a108251a1de3e3cbb57d
https://doi.org/10.1159/000520502
https://doi.org/10.1159/000520502
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1eabc1ece0a0a317b406a867acb8c8d7
https://doi.org/10.1515/jpem-2022-0480
https://doi.org/10.1515/jpem-2022-0480
Publikováno v:
Journal of Ankara University Faculty of Medicine. 74:365-369
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e4e598fefddd10f6e41d4e74c80f135
https://doi.org/10.4274/atfm.galenos.2021.66376
https://doi.org/10.4274/atfm.galenos.2021.66376
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,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::98b2af17fb7041091655199b5c54520b
https://doi.org/10.1159/000518974
https://doi.org/10.1159/000518974