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A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B GNAS and Autosomal Dominant Pseudohypoparathyroidism Type Ib
05-May-2012
Background: Patients with pseudohypoparathyroidism type Ib (PHP-1b) develop resistance toward PTH,...
Effect of Type 2 Diabetes Predisposing Genetic Variants on Colorectal Cancer Risk
05-May-2012
Background: The link between colorectal cancer (CRC) and type 2 diabetes mellitus (T2D) has been...
Genetic Polymorphism CYP17 rs2486758 and Metabolic Risk Factors Predict Daily Salivary 17{beta}-Estradiol Concentration in Healthy Premenopausal Norwegian Women. The EBBA-I Study
05-May-2012
Context: The relationship between low-penetrance genes, metabolic risk factors, and levels of...
The Results of CHD7 Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome
05-May-2012
Context: Kallmann syndrome (KS) and CHARGE syndrome are rare heritable disorders in which anosmia...
A Functional Allelic Variant of the FGF23 Gene Is Associated with Renal Phosphate Leak in Calcium Nephrolithiasis
05-May-2012
Background: A significant percentage of patients with calcium nephrolithiasis and normal...
A Novel Missense Mutation in the SH2 Domain of the STAT5B Gene Results in a Transcriptionally Inactive STAT5b Associated with Severe IGF-I Deficiency, Immune Dysfunction, and Lack of Pulmonary Disease
05-May-2012
Context: Signal transducer and activator of transcription 5b (STAT5b) deficiency, first reported...
Abnormal Expression of Genes Involved in Inflammation, Lipid Metabolism, and Wnt Signaling in the Adipose Tissue of Polycystic Ovary Syndrome
05-May-2012
Context: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in...
Absence of Mutation in Coding Regions of CYP2R1 Gene in Apparent Autosomal Dominant Vitamin D 25-Hydroxylase Deficiency Rickets
05-May-2012
Context: This is a case report of a proband and his family presenting with apparent autosomal...
Complete Inhibition of rhTSH-, Graves' Disease IgG-, and M22-Induced cAMP Production in Differentiated Orbital Fibroblasts by a Low-Molecular-Weight TSHR Antagonist
05-May-2012
The TSH receptor (TSHR) on orbital fibroblasts (OF) is a proposed target of the autoimmune attack...
Genetic Variation in the Glucose-Dependent Insulinotropic Polypeptide Receptor Modifies the Association between Carbohydrate and Fat Intake and Risk of Type 2 Diabetes in the Malmo Diet and Cancer Cohort
05-May-2012
Context: A common genetic variant (rs10423928, A-allele) in the glucose-dependent insulinotropic...
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