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

المساهمون: Chatterjee, Krishna [0000-0002-2654-8854], Schoenmakers, Nadia [0000-0002-0847-2884], Apollo - University of Cambridge Repository

مصطلحات موضوعية: Digenic DUOX1, Male, Genotype, endocrine system diseases, Infant, Newborn, Genetic Variation, Infant, NADPH Oxidases, Thyroid Function Tests, Dual Oxidases, Severity of Illness Index, Pedigree, Cohort Studies, Phenotype, Codon, Nonsense, Congenital Hypothyroidism, Humans, Female, Genetic Predisposition to Disease, DUOX2, Mutations, Retrospective Studies

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; image/tiff; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bec571f371b9afdfae6c58078baf6a34Test
https://aperta.ulakbim.gov.tr/record/46165Test

المؤلفون: Cangül, Hakan

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., orcid:0000-0002-9802-0880, Temel, Şehime Gülsün, AAG-8385-2021, 6507885442

مصطلحات موضوعية: Endocrinology & metabolism, Pediatrics, True hermaphroditism, Sry, XX testicular disorders of sex development, Gene duplication, Humans, Male, Ovotesticular disorders of sex development, SOX9 transcription factor, Gonads, Disorders of Sex Development, Sex Determination, Transcription factor Sox9, Human, Karyotype 46,XX, Letter, Mosaicism, Phenotype, Sex differentiation disorder, SRY gene, Testis

الوقت: 46

العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Pediatric Endocrinology and Metabolism; Yurt içi; Temel, Ş. G. ve Cangül, H. (2013). “Duplication of SOX9 is not a common cause of 46,XX testicular or 46,XX ovotesticular DSD”. Journal of Pediatric Endocrinology and Metabolism, 26(1-2), 191-191.; https://doi.org/10.1515/jpem-2012-0280Test; https://hdl.handle.net/11452/39555Test; 000316895000033; 2-s2.0-84878328865; 191; 26; 1-2

الإتاحة: https://doi.org/10.1515/jpem-2012-0280Test
https://hdl.handle.net/11452/39555Test

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: Cangül, Hakan, Archer, Caroline N. S.

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Kardiyoloji Anabilim Dalı., orcid:0000-0003-3516-0082, Bostan, Özlem Mehtap, Temel, Şehime Gülsün, Çil, Ergün, AAG-8558-2021, AAG-8385-2021, AAH-3865-2021, AAG-9324-2021, 8676936500, 6507885442, 35587943300

مصطلحات موضوعية: Cardiovascular system & cardiology, Pediatrics, Autosomal recessive long QT syndrome, Deafness, p.Arg243His, Long-Qt-syndrome, KVLQT1, Spectrum, Child, preschool, DNA, DNA mutational analysis, Electrocardiography, Family, Female, Homozygote, Humans, Jervell-Lange Nielsen syndrome, KCNQ1 potassium channel, Mutation, missense, Pedigree, Turkey, Cardiac & cardiovascular systems, Potassium Channels, Torsade Des Pointes, Magnesium sulfate, Potassium channel KCNQ1, Propranolol, Article

العلاقة: Makale - Uluslararası Hakemli Dergi; Pediatric Cardiology; Yurt dışı; Yurt içi; Bostan, Ö. vd. (2013). “Jervell and lange-nielsen syndrome: Homozygous missense mutation of KCNQ1 in a Turkish family”. Pediatric Cardiology, 34(8), 2063-2067.; https://link.springer.com/article/10.1007/s00246-013-0634-3Test; https://hdl.handle.net/11452/40597Test; 000327065100072; 2-s2.0-84889604097; 2063; 2067; 34; https://doi.org/10.1007/s00246-013-0634-3Test

الإتاحة: https://doi.org/10.1007/s00246-013-0634-3Test
https://hdl.handle.net/11452/40597Test

المؤلفون: Cangül, Hakan, Aycan, Zehra, Nappa, Alvaro Olivera, Schoenmakers, Nadia A., Boelaert, Kristien, Çetinkaya, Semra Çaǧlar, Böber, Ece, Darendeliler, Feyza F., Baş, Veysel Nijat, Demir, Korcan

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Pediatrik Endokrinoloji Anabilim Dalı., orcid:0000-0003-0710-5422, Saǧlam, Halil, Tarım, Ömer Faruk, C-7392-2019, 35612700100, 6701427186

مصطلحات موضوعية: Endocrinology & metabolism, Congenital goitrous hypothyroidism, Peroxidase gene, Goiter, Identification, Phenomics, Defects, Adolescent, Adult, Child, preschool, Congenital hypothyroidism, Consanguinity, Female, Infant, Humans, newborn, Lodide peroxidase, Male, Mutation, missense, Pakistan, Thyroid hormones, Turkey, Thyroid Dysgenesis, Diiodotyrosine, Levothyroxine, Pendrin, Sodium iodide symporter, Thyroglobulin

العلاقة: Makale - Uluslararası Hakemli Dergi; Clinical Endocrinology; Yurt içi; Yurt dışı; Sanayi; Cangül, H. vd. (2011). "Thyroid dyshormonogenesis is mainly caused by TPO mutations in consanguineous community". Clinical Endocrinology, 79(2), 275-281.; https://doi.org/10.1111/cen.12127Test; http://hdl.handle.net/11452/28234Test; 000321570800020; 2-s2.0-84880072335; 275; 281; 79

الإتاحة: https://doi.org/10.1111/cen.12127Test
http://hdl.handle.net/11452/28234Test

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: Cullilane, Andrew Robert, Straatman-Iwanowska, Anna A., Zaucker, Andreas, Wakabayashi, Yoshiyuki, Bruce, Christopher K., Luo, Guanmei, Rahman, Fatimah, Gürakan, Figen, Ütine, Gülen Eda, Denecke, Jonas, Vukovic, Jurica, Di Rocco, Maja, Mandel, Hanna, Matthews, Randolph P., Thomas, Steven G., Rappoport, Joshua Zachary, Arias, Irwin M., Wolburg, Hartwig, Knisely, Alexander S., Kelly, Deirdre Anne K., Ferenc Müller, Ferenc, Mäher, Eamonn Richard, Gissen, Paul

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Çocuk Sağlığı ve Hastalıkları Anabilim Dalı., Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Özkan, Tanju Başarır, Cangül, Hakan, 35772174800, 8911611600

مصطلحات موضوعية: Recycling endosomes, Carcinoembryonic antigen, Intracellular trafficking, Plasma-membrane, Arc syndrome, E-cadherin, Myosin VB, Cell, Complex, Rab11, Genetics & heredity, Danio rerio, Animals, genetically modified, Arthrogryposis, Cadherins, Carrier proteins, Cell polarity, Cholestasis, Epithelium, Humans, Kidney diseases, Membrane proteins, Mice, Mutation, Phenotype, Syndrome, Tight junctions, Zebrafish, Zebrafish proteins

العلاقة: Makale - Uluslararası Hakemli Dergi; Nature Genetics; Yurt içi; Yurt dışı; Sanayi; Cullinane, A. R. vd. (2010). "Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization". Nature Genetics, 42(4), 303-312.; https://doi.org/10.1038/ng.538Test; https://www.nature.com/articles/ng.538Test; http://hdl.handle.net/11452/28454Test; 000276150500009; 2-s2.0-77950300024; 303; 312; 42

الإتاحة: https://doi.org/10.1038/ng.538Test
http://hdl.handle.net/11452/28454Test
https://www.nature.com/articles/ng.538Test

المؤلفون: Morgan, Neil V., Morris, Mark R., Gleeson, Diane, Straatman-Iwanowska, Anna A., Davies, Nicholas James, Keenan, Stephen J., Pasha, Shanaz S., Rahman, Fatimah, Gentle, Dean C., Vreeswijk, Maaike P.G., Devilee, Peter, Knowles, Margaret A., Ceylaner, Serdar, Trembath, Richard C., Dalence, Carlos, Kısmet, Erol, Köseoğlu, Vedat, Rossbach, Hans Christoph, Gissen, Paul, Tannahill, David, Mäher, Eamonn Richard

المساهمون: Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı., Cangül, Hakan, 8911611600

مصطلحات موضوعية: Adenosine, Lymphadenopathy, Apoptosis, Growth, Cells, Gene, Genetics & heredity, Alleles, Animals, Base sequence, Breast neoplasms, Cell line, tumor, Cell proliferation, Chromosomes, human, pair 10, Colony-forming units assay, DNA mutational analysis, Embryo, mammalian, Family, Female, Gene expression regulation, Genetic loci, Histiocytosis, sinus, Humans, Mice, Molecular sequence data

وصف الملف: application/pdf

العلاقة: Makale - Uluslararası Hakemli Dergi; PLoS Genetics; Yurt içi; Yurt dışı; Sanayi; Morgan, N. V. vd. (2010). "Mutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease". PLoS Genetics, 6(2).; https://doi.org/10.1371/journal.pgen.1000833Test; https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1000833Test; http://hdl.handle.net/11452/28527Test; 000275262700029; 2-s2.0-77649196563

الإتاحة: https://doi.org/10.1371/journal.pgen.1000833Test
http://hdl.handle.net/11452/28527Test
https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1000833Test