Yazar "Yeşil, Gözde" için listeleme
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Evaluation of the parents’ anxiety levels before and after the diagnosis of their child with a rare genetic disease: The necessity of psychological support
Kölemen, Ayşe Betül; Akyüz, Enes; Toprak, Ali; Deveci, Erdem; Yeşil, Gözde (BioMed Central Ltd, 2021)Background: The diagnosis of the rare genetic diseases has great importance in treating multisystemic conditions, preventing potential complications, and estimating disease risk for family members. The duration of obtaining ... -
Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency
Kolukısa, Burcu; Başer, Dilek; Akçam, Bengü; Danielson, Jeffrey; Bilgiç Eltan, Sevgi; Haliloğlu, Yeşim; Sefer, Asena Pınar; Babayeva, Royale; Akgün, Gamze; Charbonnier, Louis-Marie; Schmitz-Abe, Klaus; Kendir Demirkol, Yasemin; Zhang, Yu; Gonzaga-Jauregui, Claudia; Heredia, Raul Jimenez; Kasap, Nurhan; Kıykım, Ayça; Özek Yücel, Esra; Gök, Veysel; Ünal, Ekrem; Paç Kısaarslan, Ayşenur; Nepesov, Serdar; Baysoy, Gökhan; Önal, Zerrin; Yeşil, Gözde; Celkan, Tülin Tiraje; Çokuğraş, Haluk; Camcıoğlu, Yıldız; Eken, Ahmet; Boztug, Kaan; Lo, Bernice; Karakoç Aydıner, Elif; Su, Helen C.; Özen, Ahmet; Chatila, Talal A.; Barış, Safa (Wiley, 2022)Background Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological ... -
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
Mitani, Tadahiro; Işıkay, Sedat; Gezdirici, Alper; Yılmaz Güleç, Elif; Punetha, Jaya; Fatih, Jawid M.; Herman, Isabella; Akay, Gülşen; Du, Haowei; Calame, Daniel G.; Ayaz, Akif; Tos, Tülay; Yeşil, Gözde; Aydın, Hatip; Geçkinli, Bilgen; Elçioğlu, Nursel; Candan, Şükrü; Sezer, Özlem; Bağış Erdem, Haktan; Gül, Davut; Demiral, Emine; Elmas, Muhsin; Yesilbaş, Osman; Kılıç, Betül; Güngör, Serdal; Ceylan, Ahmet C.; Bozdoğan, Sevcan; Özalp, Özge; Çiçek, Salih; Aslan, Hüseyin; Yalçıntepe, Sinem; Topçu, Vehap; Bayram, Yavuz; Grochowski, Christopher M.; Jolly, Angad; Dawood, Moez; Duan, Ruizhi; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Marafi, Dana; Çoban Akdemir, Zeynep; Karaca, Ender; Carvalho, Claudia M. B.; Gibbs, Richard A.; Posey, Jennifer E.; Lupski, James R.; Pehlivan, Davut (Cell Press, 2021)Neurodevelopmental disorders (NDD5) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDD5 is > 3%, resulting in significant ... -
Identification and functional characterization of a novel homozygous mutation in KCNMA1 encoding voltage and calcium sensitive potassium channel is associated with dyskinesia, epilepsy, intellectual disability, cerebellar and corticospinal tract atrophy
Yücesan, Emrah; Goncu, Beyza; Aslanger, Ayça Dilruba; Özgül, Cemil; Hasanoğlu, Sevde; Yeşil, Gözde (Springer Nature, 2020)... -
PPP2R3C gene variants cause syndromic 46,XY gonadal dysgenesis and impaired spermatogenesis in humans
Güran, Tülay; Yeşil, Gözde; Turan, Serap; Atay, Zeynep; Bozkurtlar, Emine; Aghayev, AghaRza; Gül, Sinem; Tinay, İlker; Aru, Başak; Arslan, Sema; Köroğlu, Mustafa Kutay; Ercan, Feriha; Yanıkkaya Demirel, Gülderen; Tanay Eren, Funda; Karademir, Betül; Bereket, Abdullah (Bioscientifica Ltd, 2019)Context: Most of the knowledge on the factors involved in human sexual development stems from studies of rare cases with disorders of sex development. Here, we have described a novel 46, XY complete gonadal dysgenesis ... -
Vanishing white matter disease with different faces
Güngör, Gülay; Güngör, Olcay; Çakmaklı, Seda; Maraş Genç, Hülya; İnce, Hülya; Yeşil, Gözde; Dilber, Cengiz; Aydın, Kürşad (Springer, 2020)Purpose: The goal of this study was to better understand vanishing white matter (VWM) disease, which is one of the most common hereditary white matter disorders, and its relationship to radiologic features, genetic analyses, ... -
Whole exome sequencing of consanguineous families of clinically diagnosed with neurodevelopmental disorders
Türkgenç, Burcu; Yararbaş, Kanay; Keskin Karakoyun, Hilal; Yeşilyurt, A.; Gezdirici, A.; Tatlı, B.; Akçakaya, N. Handan; Eldeş Hacıfazlıoğlu, Nilüfer; Coşkun, Olcay; Yeşil, Gözde; Ekici, Barış; Yıldırım, Canan; Önal, Hasan; Turanlı, Güzide; Alanay, Yasemin (Springer Nature, 2020)...