Browsing by Author "Eren, Erdal"
Now showing items 1-3 of 3
-
Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism
Cangül, Hakan; Liao, Xiao-Hui; Schoenmakers, Erik; Kero, Jukka; Barone, Sharon; Srichomkwun, Panudda; Lwayama, Hideyuki; Serra, Eva G.; Sağlam, Halil; Eren, Erdal; Tarım, Ömer; Nicholas, Adeline K.; Zvetkova, Ilona; Anderson, Carl A.; Frankl, Fiona E. Karet; Boelaert, Kristien; Ojaniemi, Marja; Jaaskelainen, Jarmo; Patyra, Konrad; Lof, Christoffer; Williams, E. Dillwyn; Consortium, Ukk; Soleimani, Manoocher; Barrett, Timothy; Maher, Eamonn R.; Chatterjee, V. Krishna; Refetoff, Samuel; Schoenmakers, Nadia (American Society for Clinical Investigation Inc, 2018)Defects in genes mediating thyroid hormone biosynthesis result in dyshormonogenic congenital hypothyroidism (CH). Here, we report homozygous truncating mutations in SLC26A7 in 6 unrelated families with goitrous CH and show ... -
Incidence of type 1 diabetes in children aged below 18 years during 2013-2015 in northwest Turkey
Poyrazoğlu, Şükran; Bundak, Rüveyde; Yavaş Abalı, Zehra; Önal, Hasan; Sarıkaya, Sevil; Akgün, Abdurrahman; Baş, Serpil; Abalı, Saygın; Bereket, Abdullah; Eren, Erdal; Tarım, Ömer; Güven, Ayla; Yıldız, Metin; Karaman Aksakal, Derya; Yüksel, Ayşegül; Seymen Karabulut, Gülcan; Hatun, Şükrü; Özgen, Tolga; Cesur, Yaşar; Azizoğlu, Mehmet; Dilek, Emine; Tütüncüler, Filiz; Çakır, Esra Papatya; Özcabı, Bahar; Evliyaoğlu, Olcay; Karadeniz, Songül; Dursun, Fatma; Bolu, Semih; Arslanoğlu, İlknur; Yeşiltepe Mutlu, Gül; Kırmızıbekmez, Heves; İşgüven, Pınar; Üstyol, Ala; Adal, Erdal; Uçar, Ahmet; Cebeci, Nurcan; Bezen, Didem; Binay, Çiğdem; Semiz, Serap; Korkmaz, Hüseyin Anıl; Memioğlu, Nihal; Sağsak, Elif; Peltek, Havva Nur; Yıldız, Melek; Akçay, Teoman; Turan, Serap; Güran, Tülay; Atay, Zeynep; Akcan, Neşe; Çizmecioğlu, Filiz; Ercan, Oya; Dağdeviren, Aydilek; Baş, Firdevs; İşsever, Halim; Darendeliler, Feyza (Galenos Yayıncılık, 2018)Objective: To assess the incidence of type I diabetes mellitus (T1DM) in children under 18 years of age in the northwest region of Turkey during 2013-2015. Methods: All newly diagnosed T1DM cases were recorded prospectively ... -
Prevalence of obesity in prepubertal and pubertal with Turkish population type 1 diabetes
Özkaya, Volkan; Eren, Erdal; Özgen Özkaya, Şebnem; Denkboy Öngen, Yasemin (Springer Japan K.K., 2021)To determine the prevalence of prepubertal and pubertal obesity in children and adolescents with type 1 Diabetes Mellitus (Type 1 DM). One hundred fifty children and adolescents aged 6-18 years with Type 1 DM who attended ...