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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
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المؤلفون: Gunnar Kleinau, Harald Jüppner, Sarah Paisdzior, Heiko Krude, John Gregory, Dirk Schnabel, Mehul T. Dattani, Thomas J. Gardella, Louise C. Wilson, Michael Mannstadt, Detlef Bockenhauer, Ian Tully, Jeremy Allgrove, Sarah Kiff, Heike Biebermann, Patrick Scheerer, Monica Reyes, Annette Grüters
مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Heterozygote, Gs alpha subunit, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, DNA Mutational Analysis, Puberty, Precocious, 030209 endocrinology & metabolism, Context (language use), Biology, medicine.disease_cause, Biochemistry, Bone and Bones, Adenylyl cyclase, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Loss of Function Mutation, Internal medicine, medicine, GNAS complex locus, Chromogranins, GTP-Binding Protein alpha Subunits, Gs, Humans, Receptor, Pseudohypoparathyroidism, Clinical Research Articles, Alleles, G protein-coupled receptor, Mutation, Biochemistry (medical), medicine.disease, 030104 developmental biology, Phenotype, chemistry, Amino Acid Substitution, Gain of Function Mutation, biology.protein, Female, Maternal Inheritance, Hyponatremia
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6549249d249e21c347aa4043aa794a5dTest
https://europepmc.org/articles/PMC6380466Test/ -
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المؤلفون: Terry J. DeClue, Annette Grüters-Kieslich, Erwin Lankes, Amita Sharma, Cem Demirci, Dirk Schnabel, Monica Reyes, Harald Jüppner, Dov Tiosano
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatric Obesity, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, medicine.disease_cause, Bioinformatics, Biochemistry, Epigenesis, Genetic, Cohort Studies, Exon, Endocrinology, GTP-Binding Protein alpha Subunits, Gs, Medicine, Child, Mutation, biology, food and beverages, Methylation, Phenotype, Child, Preschool, Pseudohypoparathyroidism, DNA methylation, Female, STX16, musculoskeletal diseases, medicine.medical_specialty, Adolescent, Context (language use), Syntaxin 16, 03 medical and health sciences, Internal medicine, Chromogranins, GNAS complex locus, Humans, Epigenetics, Clinical Research Articles, business.industry, fungi, Biochemistry (medical), Infant, DNA Methylation, medicine.disease, Obesity, 030104 developmental biology, biology.protein, business, Multiplex Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c51d6290f0d12e13e36b51e8d9f931ceTest
https://doi.org/10.1530/ey.15.11.8Test -
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المؤلفون: Lutz Schomburg, Josef Köhrle, Laura Kalveram, Annette Grüters-Kieslich, Heike Biebermann, Mariusz W. Szkudlinski, Gunnar Kleinau
المصدر: Molecular Endocrinology. 30:954-964
مصطلحات موضوعية: 0301 basic medicine, Agonist, endocrine system, medicine.drug_class, Mutant, Thyrotropin, 030209 endocrinology & metabolism, Biology, medicine.disease_cause, Chorionic Gonadotropin, Thyrotropin receptor, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine, Humans, Receptor, Molecular Biology, Glycoproteins, Genetics, Mutation, Minireviews, General Medicine, Luteinizing Hormone, medicine.disease, Congenital hypothyroidism, 030104 developmental biology, Follicle Stimulating Hormone, Signal transduction, hormones, hormone substitutes, and hormone antagonists, Hormone
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a0415d665f63a2a387870eb723a370cTest
https://doi.org/10.1210/me.2016-1065Test -
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المؤلفون: Birgit Köhler, Angela Hübner, Heiko Krude, Cigdem Cetingdag, Annette Grüters, Heike Biebermann, Maki Fukami, Inge-Lore Ruiz-Arana
المصدر: Sexual Development. 9:80-85
مصطلحات موضوعية: Genetics, Embryology, medicine.medical_specialty, Mutation, Endocrinology, Diabetes and Metabolism, Gonadal dysgenesis, Biology, medicine.disease, medicine.disease_cause, Transactivation, Endocrinology, Hypospadias, Hemizygote, Internal medicine, medicine, Missense mutation, Gene, Testosterone, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a2f74d3062849817f5b719695fd12e6bTest
https://doi.org/10.1159/000371603Test -
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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 -
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المؤلفون: Anne Rediger, Carolin L. Piechowski, Anne Müller, Gunnar Kleinau, Juliane Pratzka, Jessica Mühlhaus, Heike Biebermann, Christina Lagemann, Patrick Tarnow, Heiko Krude, Annette Grüters
المصدر: Journal of Molecular Endocrinology. 51:109-118
مصطلحات موضوعية: Models, Molecular, Dimer, Receptor expression, Cell Membrane, Protein Structure, Secondary, Energy homeostasis, Melanocortin 4 receptor, chemistry.chemical_compound, Transmembrane domain, Endocrinology, Amino Acid Substitution, chemistry, Mutation, Biophysics, Animals, Receptor, Melanocortin, Type 4, Protein Multimerization, Receptor, Molecular Biology, Intracellular, Protein Binding, Signal Transduction, G protein-coupled receptor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0fc1363e9ef57476a967ecd5ec30bcfTest
https://doi.org/10.1530/jme-13-0061Test -
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المؤلفون: Heike Biebermann, Daniela Handke, Heiko Krude, Peter Kühnen, Annette Grüters, Burkhard Wiesner, Gunnar Kleinau, Franziska Winkler, Jenny Eichhorst, Fergus J. Cameron, Burkhard Gerling, Anke Teichmann
المصدر: The Journal of Clinical Endocrinology & Metabolism. 97:E228-E232
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Amino Acid Motifs, Clinical Biochemistry, Biology, Transfection, Biochemistry, Protein Structure, Secondary, Receptors, G-Protein-Coupled, Substrate Specificity, Thyrotropin receptor, Endocrinology, Catalytic Domain, Internal medicine, Helix (Snails), Chlorocebus aethiops, medicine, Animals, Humans, Child, Receptor, Conserved Sequence, G protein-coupled receptor, Genetics, Biochemistry (medical), Infant, Newborn, Receptors, Thyrotropin, Transmembrane domain, HEK293 Cells, Structural Homology, Protein, COS Cells, Mutation, Motif (music), Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ca878b66eaaf946d0d01a888dadc5d2Test
https://doi.org/10.1210/jc.2011-2106Test -
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المؤلفون: Lin Lin, Rainer Rossi, Ilker Akkurt, John C. Achermann, Annette Grüters, Inas Mazen, Olaf Hiort, Heike Biebermann, Cigdem Cetindag, Birgit Köhler
المصدر: European Journal of Endocrinology
European Journal of Endocrinology, 161 (2) pp. 237-242. (2009)مصطلحات موضوعية: Anti-Mullerian Hormone, Male, Steroidogenic factor 1, endocrine system, medicine.medical_specialty, Hydrocortisone, Endocrinology, Diabetes and Metabolism, Steroidogenic Factor 1, medicine.disease_cause, Cohort Studies, chemistry.chemical_compound, Endocrinology, Dehydroepiandrosterone sulfate, Internal medicine, Hydroxyprogesterones, Adrenal insufficiency, medicine, Humans, Inhibins, Testosterone, Disorders of sex development, Hypospadias, Mutation, biology, Dehydroepiandrosterone Sulfate, business.industry, Infant, Newborn, Anti-Müllerian hormone, DNA, Sequence Analysis, DNA, General Medicine, medicine.disease, Penoscrotal hypospadias, chemistry, Mutagenesis, Site-Directed, Clinical Study, biology.protein, Follicle Stimulating Hormone, business, Adrenal Insufficiency
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10096ee108acae42c8cd1c8dc1d4c37aTest
https://doi.org/10.1530/eje-09-0067Test -
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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