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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: 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: 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: Theda Wessel, Eva Klopocki, Klemens Raile, Monika Maringa, Jürgen Weber, Dorothee Deiss, Thomas Riebel, Annette Grüters, Denise Horn, Dominik N. Müller, Martin Holder, A. Galler, Reinhard Ullmann
المصدر: The Journal of Clinical Endocrinology & Metabolism. 94:2658-2664
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Clinical Biochemistry, Disease, Biochemistry, Maturity onset diabetes of the young, Cohort Studies, Endocrinology, Internal medicine, Diabetes mellitus, Humans, Medicine, Hepatocyte Nuclear Factor 1-beta, Comparative Genomic Hybridization, Type 1 diabetes, business.industry, Biochemistry (medical), medicine.disease, HNF1B, HNF1A, Hepatocyte nuclear factors, Diabetes Mellitus, Type 2, Female, Chromosome Deletion, business, Chromosomes, Human, Pair 17, Comparative genomic hybridization
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a923df7e45789b30995670755b59cc6Test
https://doi.org/10.1210/jc.2008-2189Test -
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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 -
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المؤلفون: Katrin Sangkuhl, Anja Nuuja, Thomas Lennert, Günter Schultz, Angela Schulz, David A. Price, Annette Grüters, Marianne Wigger, Torsten Schöneberg
المصدر: The Journal of Clinical Endocrinology & Metabolism. 87:5247-5257
مصطلحات موضوعية: Male, Receptors, Vasopressin, medicine.medical_specialty, X Chromosome, Genetic Linkage, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Clinical Biochemistry, Mutant, Fluorescent Antibody Technique, Gene Expression, Diabetes Insipidus, Nephrogenic, Biology, Transfection, Biochemistry, Exon, Endocrinology, Cricetinae, Internal medicine, Arginine vasopressin receptor 2, medicine, Animals, Humans, Amino Acid Sequence, Codon, Receptor, Vasopressin receptor, Base Sequence, Biochemistry (medical), Aminoglycoside, Nephrogenic diabetes insipidus, medicine.disease, Stop codon, Anti-Bacterial Agents, COS Cells, Mutation, Female, Gentamicins, Sequence Alignment, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d3b0b1800a3387e0114fc67aa024ff82Test
https://doi.org/10.1210/jc.2002-020286Test -
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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 -
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المؤلفون: Yves Morel, V Tardy, D Schnabel, D L'Allemand, Annette Grüters, H Krude
المصدر: The Journal of Clinical Endocrinology & Metabolism. 85:4562-4567
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Pseudogene, Molecular Sequence Data, Clinical Biochemistry, Compound heterozygosity, Biochemistry, Exon, Neonatal Screening, Endocrinology, Internal medicine, Genotype, medicine, Humans, Congenital adrenal hyperplasia, Amino Acid Sequence, Allele, Alleles, Genetics, Adrenal Hyperplasia, Congenital, Base Sequence, biology, Genome, Human, Reverse Transcriptase Polymerase Chain Reaction, 17-alpha-Hydroxyprogesterone, Homozygote, Biochemistry (medical), Infant, Newborn, 21-Hydroxylase, Promoter, medicine.disease, Hormones, Pedigree, Blotting, Southern, biology.protein, Female, Steroid 21-Hydroxylase, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::baa6017a12b30bff7ec0e95b431fc6ddTest
https://doi.org/10.1210/jcem.85.12.7018Test -
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المؤلفون: Angela Schulz, Maria Hoeltzenbein, Katharina Pasel, Guido Filler, Torsten Schöneberg, Annette Grüters, Knut Linnemann, Kirsten Timmermann, Jarmo Jääskeläinen
المصدر: The Journal of Clinical Endocrinology & Metabolism. 85:1703-1710
مصطلحات موضوعية: medicine.medical_specialty, Mutation, Vasopressin, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Biology, Nephrogenic diabetes insipidus, medicine.disease, medicine.disease_cause, Biochemistry, Oxytocin receptor, Endocrinology, Internal medicine, Arginine vasopressin receptor 2, Diabetes insipidus, medicine, Missense mutation, Vasopressin receptor
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8035e281995e13ad4ecfa0143d554214Test
https://doi.org/10.1210/jcem.85.4.6507Test -
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المؤلفون: Heiko Krude, Heike Biebermann, Torsten Schöneberg, Henning Dralle, Thomas Gudermann, Hans P. Krohn, Annette Grüters
المصدر: The Journal of Clinical Endocrinology & Metabolism. 83:1431-1436
مصطلحات موضوعية: Genetics, endocrine system, Mutation, medicine.medical_specialty, endocrine system diseases, Endocrinology, Diabetes and Metabolism, Biochemistry (medical), Clinical Biochemistry, Mutant, Heterozygote advantage, Biology, medicine.disease_cause, Biochemistry, Germline, Thyrotropin receptor, Exon, Endocrinology, Germline mutation, Internal medicine, medicine, Allele, hormones, hormone substitutes, and hormone antagonists
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::132883abfaced6afe8782f972d528c56Test
https://doi.org/10.1210/jcem.83.5.4776Test