المؤلفون: Laura Kalveram, Gunnar Kleinau, Kamila Szymańska, Patrick Scheerer, Adolfo Rivero-Müller, Annette Grüters-Kieslich, Heike Biebermann

المصدر: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 20, Iss 22, p 5564 (2019)

مصطلحات موضوعية: endocrine system, endocrine system diseases, MAP Kinase Signaling System, thyroid-stimulating hormone, Thyrotropin, beta Subunit, Second Messenger Systems, Article, lcsh:Chemistry, Protein Domains, Cell Line, Tumor, Congenital Hypothyroidism, Cyclic AMP, Humans, Extracellular Signal-Regulated MAP Kinases, lcsh:QH301-705.5, Receptors, Thyrotropin, TSHR, HEK293 Cells, G-protein coupled receptors, lcsh:Biology (General), lcsh:QD1-999, central congenital hypothyroidism, Mutation, GTP-Binding Protein alpha Subunits, Gq-G11, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0067649dc40effc38fc5cedcbb8583f9Test

المؤلفون: Heiko Krude, Tulay Guran, Peter Kühnen, Annette Grüters, Heike Biebermann, Saygin Abali, Wei Chen, Abdullah Bereket, Serap Turan, Sebastian Fröhler

المساهمون: Kuehnen, Peter, Turan, Serap, Froehler, Sebastian, Gueran, Tuelay, Abali, Saygin, Biebermann, Heike, Bereket, Abdullah, Grueters, Annette, Chen, Wei, Krude, Heiko

المصدر: The Journal of Clinical Endocrinology & Metabolism. 99:E169-E176

مصطلحات موضوعية: Male, Turkey, endocrine system diseases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, GENOTYPE-PHENOTYPE CORRELATION, Clinical Biochemistry, Biochemistry, NONSYNDROMIC HEARING-LOSS, Cohort Studies, Endocrinology, Missense mutation, SYNDROME GENE PDS, Exome sequencing, Sanger sequencing, EVA, Thyroid, Pedigree, Congenital hypothyroidism, medicine.anatomical_structure, Sulfate Transporters, Thyroid Dysgenesis, symbols, Female, IODIDE TRANSPORTER, endocrine system, medicine.medical_specialty, Adolescent, ENLARGEMENT, Context (language use), Biology, Thyroid dysgenesis, symbols.namesake, Internal medicine, Congenital Hypothyroidism, VESTIBULAR AQUEDUCT, medicine, Humans, Genetic Association Studies, POLYMORPHISMS, ENDEMIC CRETINISM, Biochemistry (medical), Membrane Transport Proteins, Pendrin, medicine.disease, Case-Control Studies, Mutation, CELLS, biology.protein

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dc7148e569514673c72285e61bccef0Test
https://doi.org/10.1210/jc.2013-2619Test

المؤلفون: Zapico M, Annette Grüters, Dütting C, Pfeiffer E, Lehmkuhl U, K P Liesenkötter, Jenner A

المصدر: Experimental and Clinical Endocrinology & Diabetes. 105:28-31

مصطلحات موضوعية: Male, Paper, endocrine system, Pediatrics, medicine.medical_specialty, Goiter, endocrine system diseases, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Thyroid Gland, Thyrotropin, Thyroglobulin, Neonatal Screening, Endocrinology, Hypothyroidism, Congenital Hypothyroidism, Internal Medicine, medicine, Humans, Ultrasonography, Intelligence Tests, Intelligence quotient, business.industry, Thyroid, Infant, Newborn, General Medicine, medicine.disease, Congenital hypothyroidism, Berlin, Thyroxine, medicine.anatomical_structure, Etiology, Female, Thyroid function, business, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b2f080404f6f97b891679e0d4c2657Test
https://doi.org/10.1055/s-0029-1211928Test

المؤلفون: Annette Grüters, Aubène Lèger, Theo J. Visser, Mariella D'Alessandro, Hans van Toor, Graziella Pinto, David Goudie, Michel Polak, Willem Klootwijk, José Moreno

المساهمون: Internal Medicine

المصدر: New England Journal of Medicine, 358(17), 1811-1818. Massachussetts Medical Society

مصطلحات موضوعية: Adult, Male, Monoiodotyrosine, endocrine system, medicine.medical_specialty, endocrine system diseases, DNA Mutational Analysis, Molecular Sequence Data, Deiodinase, Mutation, Missense, DIO2, medicine.disease_cause, Iodide Peroxidase, Polymerase Chain Reaction, Open Reading Frames, Thyroid dyshormonogenesis, Hypothyroidism, Internal medicine, Humans, Medicine, Missense mutation, Amino Acid Sequence, Child, Frameshift Mutation, music, Sequence Deletion, Mutation, music.instrument, biology, Goiter, business.industry, Homozygote, Thyroid, General Medicine, Middle Aged, medicine.disease, Congenital hypothyroidism, Phenotype, medicine.anatomical_structure, Endocrinology, Iodotyrosine deiodinase, biology.protein, Female, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e1f0cf355c4cc81b00b32cf96fbb961Test
https://doi.org/10.1056/nejmoa0706819Test

المؤلفون: Annette Grüters, M. Lakomek, Heide Siggelkow, Michael Hüfner, C. Roth

المصدر: DMW - Deutsche Medizinische Wochenschrift. 122:572-577

مصطلحات موضوعية: endocrine system, Pediatrics, medicine.medical_specialty, endocrine system diseases, Dizygotic twin, 030209 endocrinology & metabolism, Trab, 03 medical and health sciences, 0302 clinical medicine, Thyroid peroxidase, medicine, Euthyroid, Pregnancy, Triiodothyronine, biology, business.industry, General Medicine, medicine.disease, 3. Good health, 030220 oncology & carcinogenesis, Failure to thrive, biology.protein, Propylthiouracil, medicine.symptom, business, hormones, hormone substitutes, and hormone antagonists, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3906bb5c4c0c2809703db59afd25fb7cTest
https://doi.org/10.1055/s-2008-1047656Test

المؤلفون: Branislav Radović, Julie Christoffel, Peter Josef Hofmann, Annette Grüters, Inga Nobis, Ludwik K. Malendowicz, Petra Ambrugger, Josef Köhrle, Cornelia Schmutzler, Anja Bacinski, Birgit Mentrup, Dana Seidlova-Wuttke, Wolfgang Wuttke, Luise Stemmler, Inka Gotthardt, Hubertus Jarry, Gábor L. Kovács

المصدر: Environmental Health Perspectives

مصطلحات موضوعية: deiodinase, Sodium-iodide symporter, Thyroid Hormones, endocrine system, medicine.medical_specialty, endocrine system diseases, Health, Toxicology and Mutagenesis, thyroid peroxidase, Thyrotropin, Endocrine Disruptors, In Vitro Techniques, pituitary, Iodide Peroxidase, transthyretin, Cell Line, malic enzyme, Rats, Sprague-Dawley, UV filters, Malate Dehydrogenase, Thyroid peroxidase, sodium iodide symporter, Internal medicine, medicine, Animals, media_common.cataloged_instance, Endocrine system, European union, media_common, Monograph, Thyroid hormone receptor, Triiodothyronine, thyroid gland, biology, Chemistry, Thyroid, Public Health, Environmental and Occupational Health, Rats, medicine.anatomical_structure, Endocrinology, flavonoids, biology.protein, Female, Biomarkers, Iodine, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca8871d5fabd1c56e54442cab8a9d9cdTest
https://doi.org/10.1289/ehp.9369Test

المؤلفون: Annette Grüters, Heiko Krude

المصدر: Hormone Research in Paediatrics. 68:107-111

مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Pediatrics, endocrine system diseases, Hormone Replacement Therapy, Endocrinology, Diabetes and Metabolism, Population, Thyrotropin, Reference range, Diagnostic Techniques, Endocrine, Thyroxine-binding globulin, Neonatal Screening, Endocrinology, Internal medicine, Congenital Hypothyroidism, medicine, Humans, education, Newborn screening, education.field_of_study, biology, business.industry, Thyroid, Infant, Newborn, medicine.disease, Congenital hypothyroidism, Thyroxine, medicine.anatomical_structure, Transgender hormone therapy, Pediatrics, Perinatology and Child Health, biology.protein, business, hormones, hormone substitutes, and hormone antagonists, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d989f8f358bd622bc286da4e95a1ac57Test
https://doi.org/10.1159/000110591Test

المؤلفون: Osama A. Elsalini, Klaus B. Rohr, Georg C. Schwabe, Stefan Mundlos, Nele Haufs, Pamela Schrumpf, Burkhard Alt, Nathan D. Lawson, Annette Grüters, Heiko Krude

المصدر: Development

مصطلحات موضوعية: endocrine system, endocrine system diseases, Mesenchyme, Thyroid Gland, Morphogenesis, Embryonic Development, Mice, medicine.artery, medicine, Animals, Hedgehog Proteins, Aorta, Abdominal, Molecular Biology, Hedgehog, Zebrafish, Aorta, biology, Embryogenesis, Thyroid, Anatomy, biology.organism_classification, Phenotype, Mice, Mutant Strains, Carotid Arteries, medicine.anatomical_structure, Mutation, Endothelium, Vascular, Developmental Biology

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::058a4cd5bcaacd9738266a304d4e4199Test
https://doi.org/10.1242/dev.02550Test

المؤلفون: Harald Brumm, Dirk Schnabel, Dorothee Deiss, Annette Grüters, Heike Biebermann, Arne Pfeufer

المصدر: The Journal of Clinical Endocrinology & Metabolism. 87:4811-4816

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Thyrotropin, Biology, Polymorphism, Single Nucleotide, Biochemistry, Neonatal Screening, Endocrinology, Gene Frequency, Hypothyroidism, Polymorphism (computer science), Germany, Internal medicine, Central hypothyroidism, medicine, Humans, Allele, education, Alleles, Genetics, education.field_of_study, Genetic Carrier Screening, Homozygote, Biochemistry (medical), Haplotype, Infant, Newborn, Pedigree, Haplotypes, Mutation, Mutation (genetic algorithm), Microsatellite, Female, Microsatellite Repeats, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07dc8c480f33299518d1a81981fd8c6bTest
https://doi.org/10.1210/jc.2002-020297Test

المؤلفون: Michael Obladen, Heike Biebermann, Annette Grüters, Klaus-Peter Liesenkötter, Michael Emeis

المصدر: Pediatric Research. 46:170-173

مصطلحات موضوعية: Male, endocrine system, medicine.medical_specialty, endocrine system diseases, Thyrotropin, medicine.disease_cause, Genetic determinism, Hypothyroidism, Internal medicine, Congenital Hypothyroidism, medicine, Humans, Endocrine system, Receptor, Mutation, business.industry, Homozygote, Thyroid, Infant, Newborn, medicine.disease, Pedigree, Congenital hypothyroidism, medicine.anatomical_structure, Endocrinology, Pediatrics, Perinatology and Child Health, Thyroid function, business, hormones, hormone substitutes, and hormone antagonists, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4df85a97e92faf312804c717e339a438Test
https://doi.org/10.1203/00006450-199908000-00007Test