المؤلفون: Nicholas, Adeline K., Serra, Eva G., Cangül, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, 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 H., 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

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., orcid:0000-0003-0710-5422, Sağlam, Halil, C-7392-2019, 35612700100

مصطلحات موضوعية: Iodide organification defects, DUOX2 mutations, Thyroglobulin gene, Japanese patients, Receptor gene, Goiter, Dyshormonogenesis, Population, Guidelines, Phenomics, Autoantigens, Congenital hypothyroidism, Humans, Iodide peroxidase, Iron-binding proteins, Mutation, Pedigree, Phenotype, Receptors, thyrotropin, Thyroglobulin, Endocrinology & metabolism, Dual Oxidases, Oxidoreductases, Autoantigen, Iron binding protein, Thyrotropin receptor, TPO protein, Human, Allele

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Clinical Endocrinology and Metabolism; Yurt içi; Yurt dışı; Sanayi; Nicholas, A. K. vd. (2016). "Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ". Journal of Clinical Endocrinology and Metabolism, 101(12), 4521-4531.; https://doi.org/10.1210/jc.2016-1879Test; https://academic.oup.com/jcem/article/101/12/4521/2765002Test; http://hdl.handle.net/11452/28837Test; 000390951000004; 2-s2.0-85003587519; 4521; 4531; 101; 12

الإتاحة: https://doi.org/10.1210/jc.2016-1879Test
http://hdl.handle.net/11452/28837Test
https://academic.oup.com/jcem/article/101/12/4521/2765002Test

المؤلفون: Nicholas, Adeline K., Serra, Eva G., Cangül, Hakan, Alyaarubi, Saif, Ullah, Irfan, Schoenmakers, Erik, Deeb, Asma, Habeb, Abdelhadi M., Almaghamsi, Mohammad, Peters, Catherine, Nathwani, Nisha, Aycan, Zehra, 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 H., 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

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., orcid:0000-0003-0710-5422, Sağlam, Halil, C-7392-2019, 35612700100

مصطلحات موضوعية: Iodide organification defects, DUOX2 mutations, Thyroglobulin gene, Japanese patients, Receptor gene, Goiter, Dyshormonogenesis, Population, Guidelines, Phenomics, Autoantigens, Congenital hypothyroidism, Humans, Iodide peroxidase, Iron-binding proteins, Mutation, Pedigree, Phenotype, Receptors, thyrotropin, Thyroglobulin, Endocrinology & metabolism, Dual Oxidases, Oxidoreductases, Autoantigen, Iron binding protein, Thyrotropin receptor, TPO protein, Human, Allele

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Clinical Endocrinology and Metabolism; Yurt içi; Yurt dışı; Sanayi; Nicholas, A. K. vd. (2016). "Comprehensive screening of eight known causative genes in congenital hypothyroidism with gland-in-situ". Journal of Clinical Endocrinology and Metabolism, 101(12), 4521-4531.; https://doi.org/10.1210/jc.2016-1879Test; https://academic.oup.com/jcem/article/101/12/4521/2765002Test; http://hdl.handle.net/11452/28837Test; 000390951000004; 2-s2.0-85003587519; 4521; 4531; 101; 12

الإتاحة: https://doi.org/10.1210/jc.2016-1879Test
http://hdl.handle.net/11452/28837Test
https://academic.oup.com/jcem/article/101/12/4521/2765002Test

المؤلفون: Cangül, Hakan, Sağlam, Yaman, Kendall, Michaela, Mäher, Eamonn Richard, Barrett, Timothy

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı., orcid:0000-0002-1684-1053, orcid:0000-0003-0710-5422, Sağlam, Halil, Eren, Erdal, Doǧan, Durmuş, AAM-1734-2020, C-7392-2019, 35612700100, 36113153400, 24467663400

مصطلحات موضوعية: Congenital hypothyroidism, Endocrinology & metabolism, Gene, Locus, Mutation, Complex, Splicing, Heterogeneity, Thyroid dysgenesis, genetics, Resistance, Tshr, Pediatrics, Glycoprotein hormone-receptors, Stimulating-hormone, Thyrotropin-receptor, Consanguineous families, Female, Humans, Infant, newborn, Male, Receptors, thyrotropin, Article, Disease severity, Gene locus, Genetic association, Genetic linkage, Heterozygote

العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Pediatric Endocrinology and Metabolism; Yurt içi; Yurt dışı; Sanayi; Cangül, H. vd. (2014). "An essential splice site mutation (c.317+1G > A) in the TSHR gene leads to severe thyroid dysgenesis". Journal of Pediatric Endocrinology and Metabolism, 27(9-10), 1021-1025.; https://hdl.handle.net/11452/39874Test; 000341429100037; 2-s2.0-84906981161; 1021; 1025; 27; 9-10; https://doi.org/10.1515/jpem-2014-0048Test

الإتاحة: https://doi.org/10.1515/jpem-2014-0048Test
https://hdl.handle.net/11452/39874Test

المؤلفون: Cangül, Hakan, Schoenmakers, Nadia A., Saǧlam, Yaman, Kendall, Michaela, Timothy Barrett, Timothy, Chatterjee, Krish, Mäher, Eamonn Richard

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Endokrinoloji Anabilim Dalı., orcid:0000-0003-0710-5422, orcid:0000-0002-1684-1053, Saǧlam, Halil, Doğanlar, Durmuş, Eren, Erdal, Tarım, Ömer Faruk, C-7392-2019, AAH-1155-2021, 35612700100, 56363214600, 36113153400, 6701427186

مصطلحات موضوعية: Congenital hypothyroidism, Gene, Genetics, Thyrotropin receptor, Mutation, Thyroid dysgenesis, TSHR gene, Glycoprotein hormone-receptors, Thyrotropin-receptor, Complex, Consanguineous families, Heterogeneity, Stimulating-hormone, Resistance, Mutations, Locus, Endocrinology & metabolism, Pediatrics, Adolescent, Child, preschool, Consanguinity, Exons, Female, Humans, Infant, newborn, Receptors, thyrotropin, Reverse transcriptase polymerase chain reaction

العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Pediatric Endocrinology and Metabolism; Yurt içi; Yurt dışı; Sanayi; Cangül, H. vd. (2014). "A deletion including exon 2 of the TSHR gene is associated with thyroid dysgenesis and severe congenital hypothyroidism". Journal of Pediatric Endocrinology and Metabolism, 27(7-8), 731-735.; https://hdl.handle.net/11452/40145Test; 000338839500023; 2-s2.0-84906985254; 731; 735; 27; 7-8; https://doi.org/10.1515/jpem-2014-0011Test

الإتاحة: https://doi.org/10.1515/jpem-2014-0011Test
https://hdl.handle.net/11452/40145Test

المؤلفون: Morgan, Neil V., Forman, Julia R., Aycan, Zehra, Böber, Ece, Cesur, Yaşar, Kirby, Gail A., Pasha, Shanaz S., Çetinkaya, Semra Çağlar, Baş, Veysel Nihat, Demir, Korcan, Yuca, Sevil Arı, Meyer, Esther, Högler, Wolfgang, Timothy Barrett, Timothy, Mäher, Eamonn Richard

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Halk Sağlığı Anabilim Dalı., orcid:0000-0003-0710-5422, orcid:0000-0002-1684-1053, Cangül, Hakan, Sağlam, Halil, Yakut, Tahsin, Gülten, Tuna, Tarım, Ömer Faruk, Karkucak, Mutlu, Eren, Erdal, Kendall, Michaela, C-7392-2019, AAM-1734-2020, 8911611600, 35612700100, 6602802424, 6505944216, 6701427186, 35388323500, 36113153400, 8062516400

مصطلحات موضوعية: Thyrotropin-receptor, Molecular-cloning, Resistance, Expression, Identification, Environment, Rhodopsin, Hormone, Complex, Endocrinology & metabolism, Congenital hypothyroidism, Consanguinity, DNA mutational analysis, Great Britain, Homeodomain proteins, Humans, Models, molecular, Mutation, Paired box transcription factors, Pakistan, Receptors, thyrotropin, beta subunit, Transcription factors, Turkey, Thyroid Dysgenesis, Newborn, Follitropin, Follitropin receptor

العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Endocrinology; Yurt içi; Yurt dışı; Sanayi; Cangül, H. vd. (2010). "Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism". Clinical Endocrinology, 73(5), 671-677.; https://doi.org/10.1111/j.1365-2265.2010.03849.xTest; http://hdl.handle.net/11452/28370Test; 000282635000017; 2-s2.0-78449277937; 671; 677; 73

الإتاحة: https://doi.org/10.1111/j.1365-2265.2010.03849.xTest
http://hdl.handle.net/11452/28370Test

المؤلفون: Morgan, Neil V., Forman, Julia R., Aycan, Zehra, Böber, Ece, Cesur, Yaşar, Kirby, Gail A., Pasha, Shanaz S., Çetinkaya, Semra Çağlar, Baş, Veysel Nihat, Demir, Korcan, Yuca, Sevil Arı, Meyer, Esther, Högler, Wolfgang, Timothy Barrett, Timothy, Mäher, Eamonn Richard

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Halk Sağlığı Anabilim Dalı., orcid:0000-0003-0710-5422, orcid:0000-0002-1684-1053, Cangül, Hakan, Sağlam, Halil, Yakut, Tahsin, Gülten, Tuna, Tarım, Ömer Faruk, Karkucak, Mutlu, Eren, Erdal, Kendall, Michaela, C-7392-2019, AAM-1734-2020, 8911611600, 35612700100, 6602802424, 6505944216, 6701427186, 35388323500, 36113153400, 8062516400

مصطلحات موضوعية: Thyrotropin-receptor, Molecular-cloning, Resistance, Expression, Identification, Environment, Rhodopsin, Hormone, Complex, Endocrinology & metabolism, Congenital hypothyroidism, Consanguinity, DNA mutational analysis, Great Britain, Homeodomain proteins, Humans, Models, molecular, Mutation, Paired box transcription factors, Pakistan, Receptors, thyrotropin, beta subunit, Transcription factors, Turkey, Thyroid Dysgenesis, Newborn, Follitropin, Follitropin receptor

العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Endocrinology; Yurt içi; Yurt dışı; Sanayi; Cangül, H. vd. (2010). "Novel TSHR mutations in consanguineous families with congenital nongoitrous hypothyroidism". Clinical Endocrinology, 73(5), 671-677.; https://doi.org/10.1111/j.1365-2265.2010.03849.xTest; http://hdl.handle.net/11452/28370Test; 000282635000017; 2-s2.0-78449277937; 671; 677; 73

الإتاحة: https://doi.org/10.1111/j.1365-2265.2010.03849.xTest
http://hdl.handle.net/11452/28370Test