Yazar "Gezdirici, Alper" 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 ... -
Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
Yılmaz Güleç, Elif; Turgut, Gözde Tutku; Gezdirici, Alper; Karaman, Volkan; Öztürk, Fatma Nihal; Avcı, Şahin; Kalaycı, Tuğba; Şentürk, Leyli; Ayaz, Akif; Kayserili, Hülya; Uyguner, Zehra Oya; Altunoğlu, Umut (Wiley, 2022)Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by episodic hyperthermia, arthrogryposis, impaired feeding ability, and respiratory distress. The classic CS/CISS is ... -
Diagnostic value of microarray method in autism spectrum disorder, intellectual disability, and multiple congenital anomalies and some candidate genes for autism: Experience of two centers
Ayaz, Akif; Gezdirici, Alper; Yılmaz Güleç, Elif; Özalp, Özge; Köseoğlu, Abdullah Hüseyin; Doğru, Zeynep; Yalçıntepe, Sinem (Galenos Publishing House, 2022)Objective: This study aimed to demonstrate the diagnostic value of microarray testing in autism spectrum disorder, intellectual disability, and multiple congenital anomalies of unknown etiology, as well as to report some ... -
Effects of chromosomal translocations on sperm count in azoospermic and oligospermic cases
Ayaz, Akif; Yalçıntepe, Sinem; Özalp, Özge; Yılmaz Güleç, Elif; Gezdirici, Alper; Akçay, Ebru Perim; Köseoğlu, Abdullah Hüseyin (Dokuz Eylül University Institute of Health Sciences, 2022)Purpose: A number of mechanisms have been proposed for the effect of chromosomal translocations on spermatogenesis and sperm maturation. However, there are still numerous ambiguous issues regarding these two processes. The ... -
Fetal left ventricular myocardial performance index measured at 11–14 weeks of gestation in fetuses with an increased nuchal translucency
Sezer, Salim; Oğlak, Süleyman Cemil; Kaya, Başak; Behram, Mustafa; Gedik Özköse, Zeynep; Süzen Çaypınar, Sema; Acar, Züat; Gezdirici, Alper; Bornaun, Helen (Wiley, 2023)Objective: This study aimed to evaluate the effect of an increase in nuchal translucency (NT) thickness on the myocardial performance index (MPI) in fetuses without cardiac anomaly in the first trimester and to determine ... -
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 ... -
How to manage low estriol levels in pregnancies, one center experience
Yılmaz Güleç, Elif; Gezdirici, Alper; Ayaz, Akif; Öztürk, Fatma Nihal; Polat, İbrahim (Galenos Publishing House, 2022)Objective: Low estriol (uE3) levels in the second-trimester screening for Down syndrome may be the result of fetal demise, congenital abnormalities, or some genetic hormonal disorders of the fetus. Although X-linked ... -
Konjenital adrenal hiperplazi olgularımızın enzim eksikliği açısından dağılımı: Yüz kırk beş hasta ile tek merkez deneyimi
Yıldız, Melek; Önal, Hasan; Aydın, Banu; Gezdirici, Alper; Akgün, Abdurrahman; Yılmaz Güleç, Elif; Belde Doğan, Beyza; Adal, Erdal (Logos Tıp Yayıncılık, 2019)Amaç: Konjenital adrenal hiperplazi (KAH), adrenal steroidogenez basamaklarından birinde gerçekleşen, enzim eksikliği nedeniyle ortaya çıkan, otozomal resesif geçişli genetik bir hastalıktır. En sık nedeni 21-hidroksilaz ...