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: 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

المؤلفون: Jessica Mühlhaus, Juliane Dinter, Sabine Jyrch, Alexander Teumer, Simon F. Jacobi, Georg Homuth, Peter Kühnen, Susanna Wiegand, Annette Grüters, Henry Völzke, Klemens Raile, Gunnar Kleinau, Heiko Krude, Heike Biebermann

المصدر: Frontiers in Pharmacology, Vol 8 (2017)
Frontiers in Pharmacology

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, medicine.medical_treatment, Population, Overweight, Biology, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, glucose homeostasis, Missense mutation, Glucose homeostasis, Pharmacology (medical), education, Allele frequency, Loss function, Original Research, Pharmacology, variants, education.field_of_study, Insulin, lcsh:RM1-950, lcsh:Therapeutics. Pharmacology, weight regulation, 030104 developmental biology, Endocrinology, Cardiovascular and Metabolic Diseases, Study of Health in Pomerania, trace amine-associated receptor 1, medicine.symptom, signal transduction, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::997e530eaf121d7a71d20f1dada3c691Test
https://doi.org/10.3389/fphar.2017.00807Test

المؤلفون: Maren Rehders, Lars C. Moeller, Annette Grüters, Klaudia Brix, Heike Biebermann, Peter Kühnen, Anita Kinne, Jana Fischer, Dagmar Führer, Anne Müller, Gunnar Kleinau, Denise Zwanziger, Heiko Krude

المصدر: Journal of Molecular Endocrinology. 54:39-50

مصطلحات موضوعية: Models, Molecular, Monocarboxylic Acid Transporters, Mutant, Medizin, Mutation, Missense, Context (language use), Chromosomal translocation, Biology, Protein Structure, Secondary, Endocrinology, INDEL Mutation, Chlorocebus aethiops, Animals, Humans, Protein Structure, Quaternary, Molecular Biology, Monocarboxylate transporter, Symporters, Translocon, Major facilitator superfamily, Transmembrane protein, Protein Structure, Tertiary, Muscular Atrophy, Protein Transport, Transmembrane domain, Biochemistry, COS Cells, Mental Retardation, X-Linked, biology.protein, Muscle Hypotonia, Protein Multimerization, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c005c2f78ccb3286db7aa629d6ffb11Test
https://doi.org/10.1530/jme-14-0272Test

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

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: Matt J. Silver, Paula Dominguez-Salas, Daniela Handke, Andrew M. Prentice, Jörg Gromoll, Sophie E. Moore, Robert A. Waterland, Branwen J. Hennig, Anke Hinney, Joachim Spranger, Johannes Hebebrand, Frank L. Heppner, Lena Walzer, Anthony J. C. Fulford, Peter Kühnen, Susanna Wiegand, Heiko Krude, Carsten Grötzinger, Annette Grüters

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pro-Opiomelanocortin, Physiology, Offspring, Medizin, Biology, Cohort Studies, 03 medical and health sciences, Missing heritability problem, Pregnancy, Genetic variation, Humans, Epigenetics, Melanocyte-Stimulating Hormones, Obesity, Allele, Molecular Biology, Alleles, Genetics, Body Weight, Genetic Variation, Cell Biology, Methylation, Sequence Analysis, DNA, Heritability, DNA Methylation, Middle Aged, Carbon, 030104 developmental biology, DNA methylation, Leukocytes, Mononuclear, CpG Islands, Female, Biomarkers

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8993112223eb407813fb1897acb0a9e4Test
https://www.ncbi.nlm.nih.gov/pubmed/27568547Test

المؤلفون: Anne Müller, Lars Niederstadt, Wenke Jonas, Chun-Xia Yi, Franziska Meyer, Petra Wiedmer, Jana Fischer, Carsten Grötzinger, Annette Schürmann, Matthias Tschöp, Gunnar Kleinau, Annette Grüters, Heiko Krude, Heike Biebermann

المساهمون: AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Endocrinology

المصدر: Frontiers in endocrinology, 7:109
Front. Endocrin. 7:109 (2016)
Frontiers in Endocrinology, Vol 7 (2016)
Frontiers in endocrinology, 7. Frontiers Media S.A.
Frontiers in Endocrinology

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Receptor expression, Inflammation, G protein coupled receptor, Biology, 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, Endocrinology, 0302 clinical medicine, Internal medicine, medicine, Receptor, Original Research, G protein-coupled receptor, protein network, lcsh:RC648-665, Melanocortin 3 receptor, Melanocortin 4 receptor, 030104 developmental biology, weight regulation, inflammation, G Protein Coupled Receptor, Protein Complementation Assay, Protein Network, Weight Regulation, Tumor necrosis factor alpha, medicine.symptom, Melanocortin, protein complementation assay, 030217 neurology & neurosurgery, hormones, hormone substitutes, and hormone antagonists

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2047967e5c6904a2dd0c25d8a198bfbeTest
https://doi.org/10.17169/refubium-25040Test