Found: 75
Select item for more details and to access through your institution.
Normal Values for the fT3/fT4 Ratio: Centile Charts (0–29 Years) and Their Application for the Differential Diagnosis of Children with Developmental Delay.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 16, p. 8585, doi. 10.3390/ijms25168585
- By:
- Publication type:
- Article
Implications of the Phenotype of POMC Deficiency for the Role of POMC-Derived Peptides in Skin Physiology.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 885, n. 1, p. 419, doi. 10.1111/j.1749-6632.1999.tb08702.x
- By:
- 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
- By:
- Publication type:
- Article
Mutation screen in the GWAS derived obesity gene SH2B1 including functional analyses of detected variants.
- Published in:
- BMC Medical Genomics, 2012, v. 5, n. 1, p. 65, doi. 10.1186/1755-8794-5-65
- By:
- Publication type:
- Article
Autosomal-dominant mode of inheritance of a melanocortin-4 receptor mutation in a patient with severe early-onset obesity is due to a dominant-negative effect caused by receptor dimerization.
- Published in:
- 2003
- By:
- Publication type:
- journal 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
An Integrated Understanding of the Molecular Mechanisms of How Adipose Tissue Metabolism Affects Long-term Body Weight Maintenance.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Glucose-dependent insulinotropic polypeptide reduces fat-specific expression and activity of 11β-hydroxysteroid dehydrogenase type 1 and inhibits release of free fatty acids.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Glucose-Dependent Insulinotropic Polypeptide Reduces Fat-Specific Expression and Activity of 11β-Hydroxysteroid Dehydrogenase Type 1 and Inhibits Release of Free Fatty Acids.
- Published in:
- Diabetes, 2012, v. 61, n. 2, p. 292, doi. 10.2337/db10-0902
- By:
- Publication type:
- Article
A New Mechanism in THRA Resistance: The First Disease-Associated Variant Leading to an Increased Inhibitory Function of THRA2.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5338, doi. 10.3390/ijms22105338
- By:
- Publication type:
- Article
Differential Signaling Profiles of MC4R Mutations with Three Different Ligands.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1224, doi. 10.3390/ijms21041224
- By:
- 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
- By:
- Publication type:
- Article
Life-Limiting Conditions at a University Pediatric Tertiary Care Center: A Cross-Sectional Study.
- Published in:
- Journal of Palliative Medicine, 2018, v. 21, n. 2, p. 169, doi. 10.1089/jpm.2017.0020
- By:
- Publication type:
- Article
Signal Transduction and Pathogenic Modifications at the Melanocortin-4 Receptor: A Structural Perspective.
- Published in:
- Frontiers in Endocrinology, 2019, p. 1, doi. 10.3389/fendo.2019.00515
- By:
- 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
- By:
- Publication type:
- Article
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sexdevelopment.
- Published in:
- European Journal of Endocrinology, 2014, v. 170, n. 5, p. 759, doi. 10.1530/EJE-13-0965
- By:
- Publication type:
- Article
Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
- Published in:
- European Journal of Endocrinology, 2012, v. 167, n. 1, p. 125, doi. 10.1530/EJE-11-0944
- By:
- Publication type:
- Article
Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy.
- Published in:
- European Journal of Endocrinology, 2011, v. 165, n. 4, p. 555, doi. 10.1530/EJE-11-0369
- By:
- Publication type:
- Article
Diabetes caused by insulin gene (INS) deletion: clinical characteristics of homozygous and heterozygous individuals.
- Published in:
- European Journal of Endocrinology, 2011, v. 165, n. 2, p. 255, doi. 10.1530/EJE-11-0208
- By:
- Publication type:
- Article
Mutation analysis of the MCHR1 gene in human obesity.
- Published in:
- European Journal of Endocrinology, 2005, v. 152, n. 6, p. 851, doi. 10.1530/eje.1.01917
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Melanocortin-4 Receptor PLC Activation Is Modulated by an Interaction with the Monocarboxylate Transporter 8.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7565, doi. 10.3390/ijms25147565
- By:
- Publication type:
- Article
An Alu Element--Associated Hypermethylation Variant of the POMC Gene Is Associated with Childhood Obesity.
- Published in:
- PLoS Genetics, 2012, v. 8, n. 3, p. 1, doi. 10.1371/journal.pgen.1002543
- By:
- Publication type:
- Article
Functional characterization of novel loss-of-function mutations in the vasopressin type 2 receptor gene causing nephrogenic diabetes insipidus.
- Published in:
- Nephrology Dialysis Transplantation, 2012, v. 27, n. 4, p. 1521, doi. 10.1093/ndt/gfr487
- By:
- 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
- By:
- Publication type:
- Article
European Society for Paediatric Endocrinology Consensus Guidelines on Screening, Diagnosis, and Management of Congenital Hypothyroidism.
- Published in:
- Hormone Research in Paediatrics, 2014, v. 81, n. 2, p. 80, doi. 10.1159/000358198
- By:
- Publication type:
- Article
Do Common Variants Separate between Obese Melanocortin-4 Receptor Gene Mutation Carriers and Non-Carriers? The Impact of Cryptic Relatedness.
- Published in:
- Hormone Research in Paediatrics, 2012, v. 77, n. 6, p. 358, doi. 10.1159/000338999
- By:
- Publication type:
- Article
Establishing Patient-Centered Outcomes for MCT8 Deficiency: Stakeholder Engagement and Systematic Literature Review.
- Published in:
- Neuropsychiatric Disease & Treatment, 2023, v. 19, p. 2195, doi. 10.2147/NDT.S379703
- By:
- Publication type:
- Article
A Prospective Study of Children Aged 0-8 Years with CAH and Adrenal Insufficiency Treated with Hydrocortisone Granules.
- Published in:
- 2021
- By:
- Publication type:
- journal 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
- By:
- 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
- By:
- Publication type:
- 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
- By:
- Publication type:
- Article
Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency.
- Published in:
- Nature Genetics, 2000, v. 25, n. 2, p. 182, doi. 10.1038/76041
- By:
- Publication type:
- Article
Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.
- Published in:
- Nature Genetics, 1998, v. 19, n. 2, p. 155, doi. 10.1038/509
- By:
- Publication type:
- Article
HESX1 mutations are an uncommon cause of septooptic dysplasia and hypopituitarism.
- Published in:
- 2007
- By:
- 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
- By:
- Publication type:
- Article
Obesity Due to Proopiomelanocortin Deficiency: Three New Cases and Treatment Trials with Thyroid Hormone and ACTH4 –10.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2003, v. 88, n. 10, p. 4633, doi. 10.1210/jc.2003-030502
- By:
- Publication type:
- Article
Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.
- Published in:
- 2003
- By:
- 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
- By:
- Publication type:
- 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
- By:
- 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
- By:
- Publication type:
- Article
No Advantage.
- Published in:
- Deutsches Ärzteblatt International, 2010, v. 107, n. 44, p. 3
- By:
- Publication type:
- Article
Gender Identity Disorders in Childhood and Adolescence: Currently Debated Concepts and Treatment Strategies.
- Published in:
- Deutsches Ärzteblatt International, 2008, v. 105, n. 48, p. 1
- By:
- Publication type:
- Article
Evidence of G-protein-coupled receptor and substrate transporter heteromerization at a single molecule level.
- Published in:
- Cellular & Molecular Life Sciences, 2018, v. 75, n. 12, p. 2227, doi. 10.1007/s00018-017-2728-1
- By:
- Publication type:
- Article
Weight Loss Partially Restores Glucose-Driven Betatrophin Response in Humans.
- Published in:
- 2016
- By:
- 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
- By:
- Publication type:
- Journal Article
European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Identification of PENDRIN (SLC26A4) Mutations in Patients With Congenital Hypothyroidism and 'Apparent' Thyroid Dysgenesis.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article