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RNA Sequencing Reveals a Strong Predominance of THRA Splicing Isoform 2 in the Developing and Adult Human Brain.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 18, p. 9883, doi. 10.3390/ijms25189883
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- Article
European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism.
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- Hormone Research in Paediatrics, 2014, v. 81, n. 2, p. 80, doi. 10.1159/000358198
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- Publication type:
- Article
Do Common Variants Separate between Obese Melanocortin-4 Receptor Gene Mutation Carriers and Non-Carriers? The Impact of Cryptic Relatedness.
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- Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 358, doi. 10.1159/000338999
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- Publication type:
- Article
Heterodimerization of Hypothalamic G-Protein-Coupled Receptors Involved in Weight Regulation.
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- Obesity Facts: The European Journal of Obesity, 2009, v. 2, n. 2, p. 80, doi. 10.1159/000209862
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- Article
Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.
- Published in:
- 2002
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- Publication type:
- journal article
A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.
- Published in:
- 2018
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- Publication type:
- journal article
Mean High-Dose l-Thyroxine Treatment Is Efficient and Safe to Achieve a Normal IQ in Young Adult Patients With Congenital Hypothyroidism.
- Published in:
- 2018
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- Publication type:
- journal article
A Melanocortin-4 Receptor Agonist Induces Skin and Hair Pigmentation in Patients with Monogenic Mutations in the Leptin-Melanocortin Pathway.
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- Skin Pharmacology & Physiology, 2021, v. 34, n. 6, p. 307, doi. 10.1159/000516282
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- Publication type:
- Article
Rescue of Melanocortin 4 Receptor (MC4R) Nonsense Mutations by Aminoglycoside-Mediated Read-Through.
- Published in:
- Obesity (19307381), 2012, v. 20, n. 5, p. 1074, doi. 10.1038/oby.2011.202
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- Publication type:
- Article
A novel mutation of LHX3 is associated with combined pituitary hormone deficiency including ACTH deficiency, sensorineural hearing loss, and short neck-a case report and review of the literature.
- Published in:
- 2011
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- Publication type:
- journal article
Transition for adolescents with a rare disease: results of a nationwide German project.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02698-2
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- Publication type:
- Article
Constitutively activating TSH-receptor mutations as a molecular cause of non-autoimmune hyperthyroidism in childhood.
- Published in:
- Langenbeck's Archives of Surgery, 2000, v. 385, n. 6, p. 390, doi. 10.1007/s004230000145
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- Publication type:
- Article
A Novel Hemizygous Mutation of MAMLD1 in a Patient with 46,XY Complete Gonadal Dysgenesis.
- Published in:
- Sexual Development, 2015, v. 9, n. 2, p. 80, doi. 10.1159/000371603
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- Publication type:
- Article
Molecular description of non-autoimmune hyperthyroidism at a neonate caused by a new thyrotropin receptor germline mutation.
- Published in:
- Thyroid Research, 2011, v. 4, n. Suppl 1, p. 1, doi. 10.1186/1756-6614-4-S1-S8
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- Publication type:
- Article
Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information.
- Published in:
- Thyroid Research, 2011, v. 4, n. Suppl 1, p. 1, doi. 10.1186/1756-6614-4-S1-S4
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- Publication type:
- Article
No Advantage.
- Published in:
- Deutsches Ärzteblatt International, 2010, v. 107, n. 44, p. 3
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- Article
Gender Identity Disorders in Childhood and Adolescence: Currently Debated Concepts and Treatment Strategies.
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- Deutsches Ärzteblatt International, 2008, v. 105, n. 48, p. 1
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- Publication type:
- Article
Weight Loss Partially Restores Glucose-Driven Betatrophin Response in Humans.
- Published in:
- 2016
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- Publication type:
- journal article
Development and testing in healthy adults of oral hydrocortisone granules with taste masking for the treatment of neonates and infants with adrenal insufficiency.
- Published in:
- 2015
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- Publication type:
- Journal Article
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.
- Published in:
- 2014
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- Publication type:
- journal article
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and 'Apparent' Thyroid Dysgenesis.
- Published in:
- 2014
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- Publication type:
- Journal Article
A New Phenotype of Nongoitrous and Nonautoimmune Hyperthyroidism Caused by a Heterozygous Thyrotropin Receptor Mutation in Transmembrane Helix 6.
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- Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 8, p. 3605, doi. 10.1210/jc.2010-0112
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- Publication type:
- Article
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
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- 2007
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- Publication type:
- journal article
CONSENSUS STATEMENT: Childhood Obesity.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 3, p. 1871, doi. 10.1210/jc.2004-1389
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- Publication type:
- Article
Obesity Due to Proopiomelanocortin Deficiency: Three New Cases and Treatment Trials with Thyroid Hormone and ACTH4 –10.
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- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 10, p. 4633, doi. 10.1210/jc.2003-030502
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- Publication type:
- Article
Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.
- Published in:
- 2003
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- Publication type:
- journal article
Severe congenital hyperthyroidism caused by a germ-line neo mutation in the extracellular portion of the thyrotropin receptor.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1998, v. 83, n. 5, p. 1431, doi. 10.1210/jcem.83.5.4776
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- Publication type:
- Article
Evaluation of a rare glucose‐dependent insulinotropic polypeptide receptor variant in a patient with diabetes.
- Published in:
- Diabetes, Obesity & Metabolism, 2019, v. 21, n. 5, p. 1168, doi. 10.1111/dom.13634
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- Publication type:
- Article
Life-Limiting Conditions at a University Pediatric Tertiary Care Center: A Cross-Sectional Study.
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- Journal of Palliative Medicine, 2018, v. 21, n. 2, p. 169, doi. 10.1089/jpm.2017.0020
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- Publication type:
- Article
Evidence of G-protein-coupled receptor and substrate transporter heteromerization at a single molecule level.
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- Cellular & Molecular Life Sciences, 2018, v. 75, n. 12, p. 2227, doi. 10.1007/s00018-017-2728-1
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- Publication type:
- Article
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
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- European Journal of Endocrinology, 2012, v. 167, n. 1, p. 125, doi. 10.1530/EJE-11-0944
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- Publication type:
- Article
Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy.
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- European Journal of Endocrinology, 2011, v. 165, n. 4, p. 555, doi. 10.1530/EJE-11-0369
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- Publication type:
- Article
Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals.
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- European Journal of Endocrinology, 2011, v. 165, n. 2, p. 255, doi. 10.1530/EJE-11-0208
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- Publication type:
- Article
Mutation analysis of the MCHR1 gene in human obesity.
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- European Journal of Endocrinology, 2005, v. 152, n. 6, p. 851, doi. 10.1530/eje.1.01917
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- Publication type:
- Article
A Prospective Study of Children Aged 0-8 Years with CAH and Adrenal Insufficiency Treated with Hydrocortisone Granules.
- Published in:
- 2021
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- Publication type:
- journal article
NKX2.1-Related Disorders: a novel mutation with mild clinical presentation.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0150-6
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- Article
Mutations in the Human Proopiomelanocortin Gene.
- Published in:
- Annals of the New York Academy of Sciences, 2003, v. 994, n. 1, p. 233, doi. 10.1111/j.1749-6632.2003.tb03185.x
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- Publication type:
- Article
Investigation of Naturally Occurring Single-Nucleotide Variants in Human TAAR1.
- Published in:
- Frontiers in Pharmacology, 2017, p. 1, doi. 10.3389/fphar.2017.00807
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- Publication type:
- Article
Homozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency.
- Published in:
- Clinical Endocrinology, 2009, v. 71, n. 2, p. 171, doi. 10.1111/j.1365-2265.2008.03511.x
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- Publication type:
- Article
MC4R Dimerization in the Paraventricular Nucleus and GHSR/MC3R Heterodimerization in the Arcuate Nucleus: Is There Relevance for Body Weight Regulation?
- Published in:
- Neuroendocrinology, 2012, v. 95, n. 4, p. 277, doi. 10.1159/000334903
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- Publication type:
- Article
Congenital Hypothyroidism: A 2020–2021 Consensus Guidelines Update—An ENDO-European Reference Network Initiative Endorsed by the European Society for Pediatric Endocrinology and the European Society for Endocrinology.
- Published in:
- Thyroid, 2021, v. 31, n. 3, p. 387, doi. 10.1089/thy.2020.0333
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- Publication type:
- Article
Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.
- Published in:
- Thyroid, 2020, v. 30, n. 9, p. 1366, doi. 10.1089/thy.2019.0544
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- Publication type:
- Article
Detection of Novel Gene Variants Associated with Congenital Hypothyroidism in a Finnish Patient Cohort.
- Published in:
- Thyroid, 2016, v. 26, n. 9, p. 1215, doi. 10.1089/thy.2016.0016
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- Publication type:
- Article
What can go wrong in the non-coding genome and how to interpret whole genome sequencing data.
- Published in:
- Medizinische Genetik, 2021, v. 33, n. 2, p. 121, doi. 10.1515/medgen-2021-2071
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- Publication type:
- Article
An Integrated Understanding of the Molecular Mechanisms of How Adipose Tissue Metabolism Affects Long-term Body Weight Maintenance.
- Published in:
- 2019
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- Publication type:
- journal article
The use of FDG-PET and CT for the staging of adrenocortical carcinoma in children.
- Published in:
- Pediatric Radiology, 2000, v. 30, n. 5, p. 306, doi. 10.1007/s002470050745
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- Publication type:
- Article
Novel mutations in LHX3 are associated with hypopituitarism and sensorineural hearing loss.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 14, p. 2150, doi. 10.1093/hmg/ddn114
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- Publication type:
- Article
Inverse Agonistic Action of 3-Iodothyronamine at the Human Trace Amine-Associated Receptor 5.
- Published in:
- PLoS ONE, 2015, v. 10, n. 2, p. 1, doi. 10.1371/journal.pone.0117774
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- Publication type:
- Article
G-Protein Coupled Receptor 83 (GPR83) Signaling Determined by Constitutive and Zinc(II)-Induced Activity.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053347
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- Publication type:
- Article
Differential Modulation of Beta-Adrenergic Receptor Signaling by Trace Amine-Associated Receptor 1 Agonists.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0027073
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- Publication type:
- Article