المؤلفون: Gerlevik, Umut, Saygı, Ceren, Cangül, Hakan, Kutlu, Aslı, Çaralan, Erdal Fırat, Topçu, Yasemin, Özören, Nesrin, Sezerman, Osman Uğur

مصطلحات موضوعية: Periventricular Nodular Heterotopia, p.Arg484Gln, Filamin-A Variants

وصف الملف: application/pdf

العلاقة: PLoS ONE; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Gerlevik, U., Saygı, C., Cangül, H., Kutlu, A., Çaralan, E. F., Topçu, Y. . Sezerman, O. U. (2022). Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia. PLoS ONE, 17(5). https://doi.org/10.1371/journal.pone.0265400Test; https://doi.org/10.1371/journal.pone.0265400Test; https://hdl.handle.net/20.500.12511/9975Test; 17; Q2; 000877056800001; 2-s2.0-85130882345; Q1

الإتاحة: https://doi.org/20.500.12511/9975Test
https://doi.org/10.1371/journal.pone.0265400Test
https://hdl.handle.net/20.500.12511/9975Test

المؤلفون: 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

مصطلحات موضوعية: Vestibular Aqueduct, Hearing Loss, Aqueduct EVA

وصف الملف: application/pdf

العلاقة: JCI Insight; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Liao, X., Schoenmakers, E., Kero, J., Barone, S., Srichomkwun, P. . Schoenmakers, N. (2018). Homozygous loss-of-function mutations in SLC26A7 cause goitrous congenital hypothyroidism. JCI Insight, 3(20). https://dx.doi.org/10.1172/jci.insight.99631Test; https://dx.doi.org/10.1172/jci.insight.99631Test; https://hdl.handle.net/20.500.12511/1873Test; 20

الإتاحة: https://doi.org/20.500.12511/1873Test
https://doi.org/10.1172/jci.insight.99631Test
https://hdl.handle.net/20.500.12511/1873Test

المؤلفون: Aycan, Zehra, Cangül, Hakan, Muzza, Marina, Bas, Veysel N., Fugazzola, Laura, Chatterjee, V. Krishna, Persani, Luca, Schoenmakers, Nadia

مصطلحات موضوعية: Digenic DUOX1, DUOX2, Mutations, Congenital Hypothyroidism

وصف الملف: application/pdf

العلاقة: Journal of Clinical Endocrinology & Metabolism; info:eu-repo/grantAgreement/TUBITAK/SOBAG/214S637; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Aycan, Z., Cangül, H., Muzza, M., Bas, V. N., Fugazzola, L., Chatterjee, V. K. … Schoenmakers, N. (2017). Digenic DUOX1 and DUOX2 mutations in cases with congenital hypothyroidism. Journal of Clinical Endocrinology & Metabolism, 102(9), 3085-3090. https://dx.doi.org/10.1210/jc.2017-00529Test; https://dx.doi.org/10.1210/jc.2017-00529Test; https://hdl.handle.net/20.500.12511/3026Test; 102; 3085; 3090; Q1

الإتاحة: https://doi.org/20.500.12511/3026Test
https://doi.org/10.1210/jc.2017-00529Test
https://hdl.handle.net/20.500.12511/3026Test

المؤلفون: 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

مصطلحات موضوعية: Congenital Hypothyroidism, Genetic Screening, Gene

وصف الملف: application/pdf

العلاقة: Journal Of Clinical Endocrinology & Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Nicholas, A. K., Serra, E. G., Cangül, H., Al-Yaarubi, S., Ullah, I., Schoenmakers, E. . Schoenmakers, N. (2016). Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ. Journal Of Clinical Endocrinology & Metabolism, 101(12), 4521-4531. https://dx.doi.org/10.1210/jc.2016-1879Test; https://dx.doi.org/10.1210/jc.2016-1879Test; https://hdl.handle.net/20.500.12511/3027Test; 101; 12; 4521; 4531; Q1

الإتاحة: https://doi.org/20.500.12511/3027Test
https://doi.org/10.1210/jc.2016-1879Test
https://hdl.handle.net/20.500.12511/3027Test

المؤلفون: Brugger, Kim, Maher, Eamonn R., Chatterjee, V. Krishna K., Anderson, Carl A., Schoenmakers, Nadia, CANGÜL, HAKAN, Alyaarubi, Saif, Ullah, Irfan, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Aycan, Zehra, SAĞLAM, HALİL, BÖBER, ECE, Babiker, Amir, Nicholas, Adeline K., Serra, Eva G., Schoenmakers, Erik, Peters, Catherine, Nathwani, Nisha, Dattani, Mehul, Shenoy, Savitha, Murray, Philip G., Willemsen, Ruben, Thankamony, Ajay, Lyons, Greta, Irwin, Rachael, Padidela, Raja, Tharian, Kavitha, Davies, Justin H., Puthi, Vijith, Park, Soo-Mi, Massoud, Ahmed F., Gregory, John W., Albanese, Assunta, Pease-Gevers, Evelien, Martin, Howard

العلاقة: a9be71ee-4f58-47c1-9dfb-ba7f09647e55; https://avesis.deu.edu.tr/publication/details/a9be71ee-4f58-47c1-9dfb-ba7f09647e55/oaiTest

الإتاحة: https://doi.org/10.1210/jc.2016-1879Test
https://avesis.deu.edu.tr/publication/details/a9be71ee-4f58-47c1-9dfb-ba7f09647e55/oaiTest

المؤلفون: Cangül, Hakan, Demir, Korcan, Babayiğit, Ömür, Abacı, Ayhan, Böber, Ece

مصطلحات موضوعية: Congenital Hypothyroidism, Thyroid Dyshormonogenesis, Thyroid Peroxidase

وصف الملف: application/pdf

العلاقة: Journal of Clinical Research in Pediatric Endocrinology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Demir, K., Babayiğit, Ö., Abacı, A. ve Böber, E. (2015). The missense alteration A5T of the thyroid peroxidase gene is pathogenic and associated with mild congenital hypothyroidism. Journal of Clinical Research in Pediatric Endocrinology, 7(3), 238-241. https://dx.doi.org/10.4274/jcrpe.2017Test; https://dx.doi.org/10.4274/jcrpe.2017Test; https://hdl.handle.net/20.500.12511/3038Test; 238; 241; Q3; Q2

الإتاحة: https://doi.org/20.500.12511/3038Test
https://doi.org/10.4274/jcrpe.2017Test
https://hdl.handle.net/20.500.12511/3038Test

المؤلفون: Güçlü, Metin, Cangül, Hakan, Ersoy, Canan

مصطلحات موضوعية: Apeced, APS I, Hypoparathyroidism, Candidiasis, AIRE Gene, OPS I, Hipoparatiroidizm, Kandidiyazis, AIRE Geni

وصف الملف: application/pdf

العلاقة: Turkish Journal of Endocrinology and Metabolism; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Güçlü, M., Cangül, H. ve Ersoy, C. (2015). Strong similarities in Turkish and European patients diagnosed with APECED syndrome. Turkish Journal of Endocrinology and Metabolism, 19(3), 89-92. https://dx.doi.org/10.4274/tjem.2987Test; https://dx.doi.org/10.4274/tjem.2987Test; https://hdl.handle.net/20.500.12511/3925Test; 19; 89; 92; Q4

الإتاحة: https://doi.org/20.500.12511/3925Test
https://doi.org/10.4274/tjem.2987Test
https://hdl.handle.net/20.500.12511/3925Test

المؤلفون: Cangül, Hakan, Doğan, Murat, Üstek, Duran

مصطلحات موضوعية: Thyroid Peroxidase, Gene, Mutation, Genetics, Molecular, Congenital Hypothyroidism, Thyroid Dyshormonogenesis

وصف الملف: application/pdf

العلاقة: Journal of Clinical Research in Pediatric Endocrinology; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Doğan, M. ve Üstek, D. (2015). A homozygous nonsense thyroid peroxidase mutation (R540X) consistently causes congenital hypothyroidism in two siblings born to a consanguineous family.Journal of Clinical Research in Pediatric Endocrinology, 7(4), 323-328. https://dx.doi.org/10.4274/jcrpe.1920Test; https://dx.doi.org/10.4274/jcrpe.1920Test; https://hdl.handle.net/20.500.12511/3037Test; 323; 328; Q3; Q2

الإتاحة: https://doi.org/20.500.12511/3037Test
https://doi.org/10.4274/jcrpe.1920Test
https://hdl.handle.net/20.500.12511/3037Test

المؤلفون: Cangül, Hakan, Aydın, Banu, Baş, Firdevs

مصطلحات موضوعية: TPO, Mutation, Genetics, Duplication, Congenital Hypothyroidism, Thyroid Dyshormonogenesis

وصف الملف: application/pdf

العلاقة: Journal of Pediatric Genetics; Makale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı; Cangül, H., Aydın, B. ve Baş, F. (2015). A homozygous TPO gene duplication (c. 1184_1187dup4) causes congenital hypothyroidism in three siblings born to a consanguineous family. Journal of Pediatric Genetics, 4(4), 194-198. https://dx.doi.org/10.1055/s-0035-1565268Test; https://dx.doi.org/10.1055/s-0035-1565268Test; https://hdl.handle.net/20.500.12511/3272Test; 194; 198

الإتاحة: https://doi.org/20.500.12511/3272Test
https://doi.org/10.1055/s-0035-1565268Test
https://hdl.handle.net/20.500.12511/3272Test

المؤلفون: Cangül, Hakan

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., orcid:0000-0002-9802-0880, orcid:0000-0001-7707-2174, orcid:0000-0003-3516-0082, Temel, Şehime Gülsün, Bostan, Özlem Mehtap, Çil, Ergün, AAG-8385-2021, AAG-9324-2021, AAG-8558-2021, 6507885442, 8676936500, 35587943300

مصطلحات موضوعية: Neurosciences & neurology, Deafness, Children, Clinical neurology, Potassium Channels, Jervell-Lange Nielsen Syndrome, Torsade Des Pointes, Echocardiography, Exercise test, Faintness, Family history, Hearing impairment, Heart depolarization, Holter monitoring, Human, Letter, Long QT syndrome, Turkey (republic)

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Annals of Indian Academy of Neurology; Yurt dışı; Yurt içi; Temel, Ş. G. vd. (2013). “Turkish perspective of Jervell and Lange-Nielsen syndrome”. Annals of Indian Academy of Neurology, 16(1), 129-130.; https://doi.org/10.4103/0972-2327.107703Test; https://journals.lww.com/annalsofian/Fulltext/2013/16010/Turkish_perspective_of_Jervell_and_Lange_Nielsen.29.aspxTest; http://hdl.handle.net/11452/32646Test; 000316907100029; 2-s2.0-84875695272; 129; 130; 16

الإتاحة: https://doi.org/10.4103/0972-2327.107703Test
http://hdl.handle.net/11452/32646Test
https://journals.lww.com/annalsofian/Fulltext/2013/16010/Turkish_perspective_of_Jervell_and_Lange_Nielsen.29.aspxTest