Yazar "Uyanık, Bülent" için listeleme
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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
Aksu Uzunhan, Tuğçe; Ertürk, Biray; Aydın, Kürşad; Ayaz, Akif; Altunoğlu, Umut; Yarar, Murat Hakkı; Gezdirici, Alper; İçağasıoğlu, Dilara Füsun; Gökpınar İli, Ezgi; Uyanık, Bülent; Eser, Metin; Kutbay, Yaşar Bekir; Topçu, Yasemin; Kılıç, Betül; Bektaş, Gonca; Arduç Akçay, Ayfer; Ekici, Barış; Chousein, Amet; Avcı, Şahin; Yüksel, Atıl; Kayserili, Hülya (Elsevier B.V., 2023)Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert ... -
Could "islets of sparing" be a clue for neutral lipid storage disease with ichthyosis in patients with congenital ichthyosiform erythroderma?
Topaloğlu Demir, Filiz; Cayhan, Baran; Karaoğlan, Çağla; Türkoğlu, Zafer; Büyükbabani, Nesimi; Ayer, Mesut; Düz, Buğrahan; Uyanık, Bülent (Wolters Kluwer Medknow Publications, 2022)The prevalent form of ichthyosis in neutral lipid storage disease (NLSDI) is nonbullous congenital ichthyosiform erythroderma (CIE) characterized by fine, whitish scales on erythematous skin over the whole body. Here, we ... -
Evaluation of laboratory findings, clinical features and rates of diagnosis of patients admitted to outpatient clinic of pediatric neurology with neuromuscular manifestations
Aksu Uzunhan, Tuğçe; Ertürk, Biray; Özyavuz Çubuk, Pelin; Uyanık, Bülent; Ayaz, Akif; Akan, Onur; Özdemir, Taha Reşid (Dr. Behcet Uz Pediatric Hospital, 2020)Objective: Our aim is to evaluate how many patients with neuromuscular manifestations get a definite diagnosis and which methods are used in the pathway to diagnosis as well as to assess patient characteristics.Methods: ... -
Unilateral nail and toe nail dystrophy in a case of hemiplegia: A rare presentation of reflex sympathetic dystrophy
Topaloğlu Demir, Filiz; Cayhan, Baran; Karaoğlan, Çağla; Türkoğlu, Zafer; Büyükbabani, Nesimi; Ayer, Mesut; Düz, Buğrahan; Uyanık, Bülent (Wolters Kluwer Medknow Publications, 2022)Sir, Chronic regional pain syndrome (CRPS) is a disabling, complex, poorly understood neurovascular disorder and has two subtypes. Reflex sympathetic dystrophy (RSD) (type 1) is seen following noxious events, and type 2 ...