Yazar "Cangül, Hakan" için Rektörlüğe Bağlı Birimler listeleme
-
Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ
Nicholas, Adeline K.; Serra, Eva Goncalves; Cangül, Hakan; Al-Yaarubi, Saif; Ullah, Irfan; Schoenmakers, Erik; Deeb, Asma; Habeb, Abdelhadi M.; Almaghamsi, Mohammad; Peters, Catherine; Nathwani, Nisha; Aycan, Zehra; Sağlam, Halil; Bober, Ece; Dattani, Mehul; Shenoy, Savitha; Murray, Philip G.; Babiker, Amir; Willemsen, Ruben; Thankamony, Ajay; Lyons, Greta; Irwin, Rachael; Padidela, Raja; Tharian, Kavitha; Davies, Justin Huw; Puthi, Vijith; Park, Soo-Mi; Massoud, Ahmed F.; Gregory, John W.; Albanese, Assunta; Pease-Gevers, Evelien; Martin, Howard; Brugger, Kim; Maher, Eamonn R.; Chatterjee, V. Krishna K.; Anderson, Carl A.; Schoenmakers, Nadia (Endocrine Society, 2016)Context: Lower TSH screening cutoffs have doubled the ascertainment of congenital hypothyroidism (CH), particularly cases with a eutopically located gland-in-situ (GIS). Although mutations in known dyshormonogenesis genes ... -
Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia
Gerlevik, Umut; Saygı, Ceren; Cangül, Hakan; Kutlu, Aslı; Çaralan, Erdal Fırat; Topçu, Yasemin; Özören, Nesrin; Sezerman, Osman Uğur (Public Library of Science, 2022)Background Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNHassociated FLNA mutations are female ... -
The investigation of genetic etiology in familial cases with congenital hypothyroidism
Kardelen Al, Aslı Derya; Işık, Fatma Büşra; Karakılıç Özturan, Esin; Sözügüzel, Mavi Deniz; Öztürk, Ayşe Pınar; Poyrazoğlu, Şükran; Parlayan, Cüneyd; Cangül, Hakan; Baş, Firdevs; Darendeliler, Feyza (Karger, 2019)Background: Congenital hypothyroidism(CH) is the most common neonatal endocrinological disorder in the world. Although most of the CH is sporadic, some genetic defects are responsible from the etiology. The aim of this ...