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: Pirgon, Özgür, Atabek, Mehmet Emre, Esen, Hasan H.

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

مصطلحات موضوعية: Hypothyroidism, Infantile systemic hyalinosis, Fibromatosis, Mutations, Endocrinology & metabolism, Pediatrics, Case Report, Gingiva Hypertrophy, Anthrax Toxin Receptors, Article, Bone radiography, Child, Clinical feature, Diet therapy, Echography, Female, Gene deletion, Histopathology, Homozygosity, Hormone substitution, Human, Human tissue, Malnutrition, Muscle biopsy, Mutational analysis, Osteopenia, Physical examination, Protein blood level, Skin biopsy, Skin examination

العلاقة: Makale - Uluslararası Hakemli Dergi; Journal of Pediatric Endocrinology and Metabolism; Yurt içi; Pirgon, Ö. vd. (2007). "Infantile systemic hyalinosis with early thyroid dysfunction". Journal of Pediatric Endocrinology and Metabolism, 20(7), 833-836.; https://hdl.handle.net/11452/40302Test; 000248735000012; 2-s2.0-34548252301; 833; 836; 20; https://doi.org/10.1515/JPEM.2007.20.7.833Test

الإتاحة: https://doi.org/10.1515/JPEM.2007.20.7.833Test
https://hdl.handle.net/11452/40302Test