Found: 29
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Whole Exome Sequencing Points towards a Multi-Gene Synergistic Action in the Pathogenesis of Congenital Combined Pituitary Hormone Deficiency.
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- Cells (2073-4409), 2022, v. 11, n. 13, p. N.PAG, doi. 10.3390/cells11132088
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- Article
Untargeted Plasma Metabolomics Unravels a Metabolic Signature for Tissue Sensitivity to Glucocorticoids in Healthy Subjects: Its Implications in Dietary Planning for a Healthy Lifestyle.
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- Nutrients, 2021, v. 13, n. 6, p. 2120, doi. 10.3390/nu13062120
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- Article
Unravelling the Genetic Basis of Primary Aldosteronism.
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- Nutrients, 2021, v. 13, n. 3, p. 875, doi. 10.3390/nu13030875
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- Article
First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism.
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- Case Reports in Genetics, 2019, p. 1, doi. 10.1155/2019/3654618
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- Article
Glucocorticoid Signaling and Epigenetic Alterations in Stress-Related Disorders.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5964, doi. 10.3390/ijms22115964
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- Article
Molecular Defects in the Hypothalamic-Pituitary-Thyroid Axis Leading to Congenital Hypothyroidism.
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- Current Pediatric Reviews, 2005, v. 1, n. 3, p. 225, doi. 10.2174/157339605774574917
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- Publication type:
- Article
Increased glucocorticoid receptor expression in sepsis is related to heat shock proteins, cytokines, and cortisol and is associated with increased mortality.
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- Intensive Care Medicine Experimental, 2017, v. 5, n. 1, p. 1, doi. 10.1186/s40635-017-0123-8
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- Article
CAC - the neglected repeat.
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- BioEssays, 1996, v. 18, n. 3, p. 237, doi. 10.1002/bies.950180311
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- Article
Long-term clinical data and molecular defects in the STAR gene in five Greek patients.
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- European Journal of Endocrinology, 2013, v. 168, n. 3, p. 351, doi. 10.1530/EJE-12-0600
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- Article
Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X).
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- European Journal of Endocrinology, 2004, v. 150, n. 3, p. 0257, doi. 10.1530/eje.0.1500257
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- Publication type:
- Article
The Phenotypic Variability Associated with Hepatocyte Nuclear Factor 1B Genetic Defects Poses Challenges in Both Diagnosis and Therapy.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 8, p. 4552, doi. 10.3390/ijms25084552
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- Article
Transcriptomics in tissue glucocorticoid sensitivity.
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- European Journal of Clinical Investigation, 2019, v. 49, n. 8, p. N.PAG, doi. 10.1111/eci.13129
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- Publication type:
- Article
Detection of hepatocyte nuclear factor 4A(HNF4A) gene variant as the cause for congenital hyperinsulinism leads to revision of the diagnosis of the mother.
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- Journal of Pediatric Endocrinology & Metabolism, 2021, v. 34, n. 4, p. 527, doi. 10.1515/jpem-2020-0302
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- Article
Molecular Analysis of the CYP11B2 Gene in 62 Patients with Hypoaldosteronism Due to Aldosterone Synthase Deficiency.
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- 2021
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- Publication type:
- journal article
lncRNA NORAD is consistently detected in breastmilk exosomes and its expression is downregulated in mothers of preterm infants.
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- International Journal of Molecular Medicine, 2021, v. 48, n. 6, p. N.PAG, doi. 10.3892/ijmm.2021.5049
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- Publication type:
- Article
Pituitary Magnetic Resonance Imaging in 15 Patients with Prop1 Gene Mutations: Pituitary Enlargement May Originate from the Intermediate Lobe.
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- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 5, p. 2200, doi. 10.1210/jc.2003-031765
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- Article
Stress-induced Aldosterone Hyper-Secretion in a Substantial Subset of Patients With Essential Hypertension.
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- 2015
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- Publication type:
- journal article
A novel point mutation of the human glucocorticoid receptor gene causes primary generalized glucocorticoid resistance through impaired interaction with the LXXLL motif of the p160 coactivators: dissociation of the transactivating and transreppressive activities.
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- 2014
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- Publication type:
- journal article
Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.
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- 2013
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- Publication type:
- Journal Article
A novel point mutation in the DNA-binding domain (DBD) of the human glucocorticoid receptor causes primary generalized glucocorticoid resistance by disrupting the hydrophobic structure of its DBD.
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- 2013
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- Publication type:
- journal article
A novel point mutation in the KCNJ5 gene causing primary hyperaldosteronism and early-onset autosomal dominant hypertension.
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- 2012
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- Publication type:
- journal article
Functional characterization of the hGRαT556I causing Chrousos syndrome.
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- European Journal of Clinical Investigation, 2016, v. 46, n. 1, p. 42, doi. 10.1111/eci.12563
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- Article
Transient generalized glucocorticoid hypersensitivity.
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- European Journal of Clinical Investigation, 2015, v. 45, n. 12, p. 1306, doi. 10.1111/eci.12554
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- Publication type:
- Article
A novel mutation of the hGR gene causing Chrousos syndrome.
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- European Journal of Clinical Investigation, 2015, v. 45, n. 8, p. 782, doi. 10.1111/eci.12470
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- Article
Oligonucleotide (CAC)<sub>5</sub> fingerprinting: Validity and reliability in paternity testing.
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- Electrophoresis, 1995, v. 16, n. 1, p. 1624, doi. 10.1002/elps.11501601268
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- Article
Plasma Proteomics in Healthy Subjects with Differences in Tissue Glucocorticoid Sensitivity Identifies A Novel Proteomic Signature.
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- Biomedicines, 2022, v. 10, n. 1, p. 184, doi. 10.3390/biomedicines10010184
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- Article
Next generation sequencing targeted gene panel in Greek MODY patients increases diagnostic accuracy.
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- Pediatric Diabetes, 2020, v. 21, n. 1, p. 28, doi. 10.1111/pedi.12931
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- Publication type:
- Article
The spectrum of HNF1A gene mutations in Greek patients with MODY3: relative frequency and identification of seven novel germline mutations.
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- Pediatric Diabetes, 2013, v. 14, n. 7, p. 526, doi. 10.1111/pedi.12032
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- Publication type:
- Article
Functional characterization of two novel germline mutations of the KCNJ5 gene in hypertensive patients without primary aldosteronism but with ACTH-dependent aldosterone hypersecretion.
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- Clinical Endocrinology, 2016, v. 85, n. 6, p. 845, doi. 10.1111/cen.13132
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- Article