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/

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

المؤلفون: Susanna Wiegand, Keith Gottesdiener, Heiko Krude, Oliver Blankenstein, Ulrike Blume-Peytavi, Peter Kühnen, Annette Grüters, Lea L. Martini, Knut Mai, Karine Clément

المصدر: New England Journal of Medicine. 375:240-246

مصطلحات موضوعية: Adult, 0301 basic medicine, Agonist, endocrine system, medicine.medical_specialty, Pro-Opiomelanocortin, medicine.drug_class, Blood Pressure, Pilot Projects, 030209 endocrinology & metabolism, Hyperphagia, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Proopiomelanocortin, Internal medicine, Adrenal insufficiency, medicine, Humans, Obesity, Hydrocortisone, Setmelanotide, biology, business.industry, digestive, oral, and skin physiology, General Medicine, medicine.disease, Melanocortin 4 receptor, Pro-Opiomelanocortin Deficiency, Phenotype, 030104 developmental biology, Endocrinology, alpha-MSH, biology.protein, Receptor, Melanocortin, Type 4, Female, Melanocortin, business, Metabolism, Inborn Errors, hormones, hormone substitutes, and hormone antagonists, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f54de5d16542166c14e27363cc2e4fTest
https://doi.org/10.1056/nejmoa1512693Test

المؤلفون: Thomas Klopstock, Andreas Zimmer, Ulrich Schweizer, Helmut Fuchs, Cristiane Blechschmidt, Josef Köhrle, Valerie Gailus-Durner, Lore Becker, Annette Grüters, Wolfgang Wurst, Ildiko Racz, Stephan Roth, Anja U. Bräuer, Sabine M. Hölter, Thomas Naumann, Eva K. Wirth, Martin Hrabé de Angelis

المصدر: The Journal of Neuroscience. 29:9439-9449

مصطلحات موضوعية: Monocarboxylic Acid Transporters, medicine.medical_specialty, Amino Acid Transport System y+, Neuropsychological Tests, Hyperthyroidism, Mice, Hypothyroidism, Internal medicine, medicine, Animals, Humans, RNA, Messenger, Cells, Cultured, Thyroid hormone transport, Mice, Knockout, Neurons, Monocarboxylate transporter, Allan–Herndon–Dudley syndrome, Triiodothyronine, Behavior, Animal, Symporters, biology, Fusion Regulatory Protein 1, Light Chains, General Neuroscience, Brain, Membrane Transport Proteins, Transporter, Syndrome, Articles, Human brain, medicine.disease, Phenotype, medicine.anatomical_structure, Endocrinology, Symporter, Mental Retardation, X-Linked, biology.protein, Microglia, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f883c89e2a4fd917078ccfb93361ec6Test
https://doi.org/10.1523/jneurosci.6055-08.2009Test

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: 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: Mojca Zerjav Tansek, Heiko Krude, Heike Biebermann, Primus E. Mullis, Dirk Schnabel, Annette Grüters, Pierre Theunissen

المصدر: The Journal of Clinical Endocrinology & Metabolism. 88:4633-4640

مصطلحات موضوعية: Thyroid Hormones, endocrine system, medicine.medical_specialty, Pro-Opiomelanocortin, Genotype, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Thyroid Gland, Compound heterozygosity, Biochemistry, Endocrinology, Adrenocorticotropic Hormone, Proopiomelanocortin, Internal medicine, Adrenal insufficiency, Humans, POMC Gene Product, Medicine, Obesity, Hair Color, biology, business.industry, Body Weight, digestive, oral, and skin physiology, Biochemistry (medical), Thyroid, Infant, Newborn, Infant, medicine.disease, Peptide Fragments, Pro-Opiomelanocortin Deficiency, Phenotype, medicine.anatomical_structure, Child, Preschool, biology.protein, Basal Metabolism, Melanocortin, business, hormones, hormone substitutes, and hormone antagonists, Hormone

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::147bb5793ed2e373ea4d20944695c478Test
https://doi.org/10.1210/jc.2003-030502Test

المؤلفون: Heike Biebermann, Heiko Krude, Annette Grüters

المصدر: Annals of the New York Academy of Sciences. 994:233-239

مصطلحات موضوعية: endocrine system, medicine.medical_specialty, Pro-Opiomelanocortin, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, History and Philosophy of Science, Melanocortin receptor, Proopiomelanocortin, Internal medicine, medicine, Animals, Humans, POMC Gene Product, ACTH receptor, Genetic Testing, Obesity, Genetics, Mutation, Polymorphism, Genetic, integumentary system, biology, General Neuroscience, digestive, oral, and skin physiology, Melanocortin 3 receptor, Melanocortin 4 receptor, Phenotype, Endocrinology, biology.protein, Melanocortin, Peptides, hormones, hormone substitutes, and hormone antagonists

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c20078ddc0b4fb42c621033e81fc538Test
https://doi.org/10.1111/j.1749-6632.2003.tb03185.xTest

المؤلفون: Heiko Krude, Barbara Schütz, Heike Biebermann, Arpad von Moers, Dirk Schnabel, Heidi Neitzel, Holger Tönnies, Dagmar Weise, Antony Lafferty, Siegfried Schwarz, Mario DeFelice, Andreas von Deimling, Frank van Landeghem, Roberto DiLauro, Annette Grüters

المصدر: Journal of Clinical Investigation. 109:475-480

مصطلحات موضوعية: Lung Diseases, Thyroid Nuclear Factor 1, Infant, Newborn, Nuclear Proteins, Syndrome, General Medicine, Thyroid Diseases, Article, Mice, Phenotype, Haplotypes, Central Nervous System Diseases, Multigene Family, Mutation, Animals, Humans, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82915634876a51ef158a70308631dc5bTest
https://doi.org/10.1172/jci0214341Test

المؤلفون: Annette Grüters, Markus Schuelke, Christof Dame, Ines Müller, Heike Biebermann, Hans-Jürgen Christen, Carsten G. Bönnemann, Patricia Crock, Reinhard Ullmann, Hans-Hilger Ropers, Grit Ebert, Matthias Griese, Anne Steininger, Pamela Schrumpf, Sabine Jyrch, Dietz Rating, Jacqueline K. Hewitt, Juri Katchanov, Iva Stoeva, Sarah Schnittert-Hübener, Francis deZegher, Anne Thorwarth, Heiko Krude, Christoph Hübner, Gunnar Kleinau, Barbara Plecko, Klaus Kapelari, Sten A. Ivarsson, Knut Brockmann

المساهمون: University of Zurich, Krude, Heiko

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: Male, Candidate gene, medicine.medical_specialty, 2716 Genetics (clinical), Adolescent, DNA Copy Number Variations, Thyroid Nuclear Factor 1, Electrophoretic Mobility Shift Assay, 610 Medicine & health, Biology, Bioinformatics, Article, symbols.namesake, Germline mutation, 1311 Genetics, Molecular genetics, Genetics, medicine, Missense mutation, Humans, Point Mutation, Child, Genotyping, Genetics (clinical), Sanger sequencing, Comparative Genomic Hybridization, Point mutation, Genetic Diseases, Inborn, Infant, Newborn, Infant, Nuclear Proteins, Phenotype, 3. Good health, 10036 Medical Clinic, Child, Preschool, symbols, Female, Gene Deletion, Transcription Factors

وصف الملف: ThorwartA, 2014.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87c4bb0d75cc5953a338ec723c1f6671Test
https://www.zora.uzh.ch/id/eprint/104724Test/