Browsing by Author "Ceylaner, Serdar"
Now showing items 1-4 of 4
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Correction to: a novel biallelic lck variant resulting in profound t-cell ımmune deficiency and review of the literature
Lanz, Anna Lisa; Erdem, Şerife; Özcan, Alper; Ceylaner, Gülay; Cansever,Murat; Ceylaner, Serdar; Conca, Raffaele; Magg, Thomas; Acuto, Oreste; Latour, Sylvain; Klein, Christoph; Patiroglu, Turkan; Unal, Ekrem; Eken, Ahmet; Hauck, Fabian (Springer, January 20)Lymphocyte-specific protein tyrosine kinase (LCK) is an SRC-family kinase critical for initiation and propagation of T-cell antigen receptor (TCR) signaling through phosphorylation of TCR-associated CD3 chains and recruited ... -
DIAPH1-deficiency is associated with major t, nk and ılc defects in humans
Azizoglu, Zehra Busra; Babayeva, Royala; Haskologlu, Zehra Sule; Acar, Mustafa Burak; Ayaz-Guner, Serife; Okus, Fatma Zehra; Alsavaf, Mohammad Bilal; Can, Salim; Basaran, Kemal Erdem; Canatan, Mehmed Fatih; Ozcan, Alper; Erkmen, Hasret; Leblebici, Can Berk; Yilmaz, Ebru; Karakukcu, Musa; Kose, Mehmet; Canoz, Ozlem; Özen, Ahmet; Karakoc-Aydiner, Elif; Ceylaner, Serdar; Gümüş, Gülsüm; Per, Huseyin; Gumus, Hakan; Canatan, Halit; Ozcan, Servet; Dogu, Figen; Ikinciogullari, Aydan; Unal, Ekrem; Baris, Safa; Eken, Ahmet (Springer, December 2)Loss of function mutations in Diaphanous related formin 1 (DIAPH1) are associated with seizures, cortical blindness, and microcephaly syndrome (SCBMS) and are recently linked to combined immunodeficiency. However, the ... -
Evaluation of the patients with the diagnosis of pontocerebellar hypoplasia: A multicenter national study
Cavusoglu, Dilek; Ozturk, Gulten; Turkdogan, Dilsad; Kurul, Semra Hiz; Yis, Uluc; Komur, Mustafa; Incecik, Faruk; Kara, Bulent; Sahin, Turkan; Unver, Olcay; Dilber, Cengiz; Mert, Gulen Gul; Gunay, Cagatay; Uzan, Gamze Sarikaya; Ersoy, Ozlem; Oktay, Yavuz; Mermer, Serdar; Tuncer, Gokcen Oz; Gungor, Olcay; Ozcora, Gul Demet Kaya; Gumus, Ugur; Sezer, Ozlem; Cetin, Gokhan Ozan; Demir, Fatma; Yilmaz, Arzu; Gurbuz, Gurkan; Topcu, Meral; Topaloglu, Haluk; Ceylan, Ahmet Cevdet; Ceylaner, Serdar; Gleeson, Joseph G.; Icagasioglu, Dilara Fusun; Sonmez, F. Mujgan (Springer, 2024)Pontocerebellar hypoplasia (PCH) is a heterogeneous group of neurodegenerative disorders characterized by hypoplasia and degeneration of the cerebellum and pons. We aimed to identify the clinical, laboratory, and imaging ... -
An infant with glutaric aciduria type IIc diagnosed with a novel mutation
Isikay, Sedat; Yaman, Ayhan; Ceylaner, Serdar (TURKISH J PEDIATRICS, 2017-05)Glutaric aciduria type II is a rare inborn error of metabolism. The clinical picture is highly variable with symptoms ranging from acute metabolic decompensations to chronic, mainly muscular problems or even asymptomatic ...
