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513501 to 513600 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto's thyroiditis and Addison's disease.
Premature mortality in patients with Addison's disease: a population-based study.
Immunological aspects of premature ovarian failure associated with idiopathic Addison's disease.
Adrenal antibodies in Addison's disease.
SCHMIDT'S SYNDROME (THYROID AND ADRENAL INSUFFICIENCY). A REVIEW OF THE LITERATURE AND A REPORT OF FIFTEEN NEW CASES INCLUDING TEN INSTANCES OF COEXISTENT DIABETES MELLITUS.
Adrenomyeloneuropathy: a probable variant of adrenoleukodystrophy. I. Clinical and endocrinologic aspects.
A clinical and immunological study of adrenocortical insufficiency (Addison's disease).
VARIATIONS IN PLASMA RENIN CONCENTRATION IN SEVERAL PHYSIOLOGICAL AND PATHOLOGICAL STATES.
The spectrum of diseases associated with thymoma. Coincidence or syndrome?
Clinical review 93: Autoimmune polyglandular syndrome type 1.
Two types of autoimmune Addison's disease associated with different polyglandular autoimmune (PGA) syndromes.
Auto-antibodies in Addison's disease.
A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes.
CTLA-4 in autoimmune diseases--a general susceptibility gene to autoimmunity?
Defective suppressor function of human CD4+ CD25+ regulatory T cells in autoimmune polyglandular syndrome type II.
Quality indicators for colonoscopy and the risk of interval cancer.
Cost-effectiveness of screening for colorectal cancer in the general population.
Detection of colonic dysplasia in vivo using a targeted heptapeptide and confocal microendoscopy.
Aspirin use and the risk for colorectal cancer and adenoma in male health professionals.
Risk of advanced proximal neoplasms in asymptomatic adults according to the distal colorectal findings.
Polyp miss rate determined by tandem colonoscopy: a systematic review.
Hypomethylation of DNA from benign and malignant human colon neoplasms.
Colonoscopic polypectomy and long-term prevention of colorectal-cancer deaths.
BRAF mutation is associated with DNA methylation in serrated polyps and cancers of the colorectum.
Accuracy of CT colonography for detection of large adenomas and cancers.
Colonoscopic miss rates of adenomas determined by back-to-back colonoscopies.
Calcium plus vitamin D supplementation and the risk of colorectal cancer.
A randomized trial of aspirin to prevent colorectal adenomas in patients with previous colorectal cancer.
Screening and surveillance for the early detection of colorectal cancer and adenomatous polyps, 2008: a joint guideline from the American Cancer Society, the US Multi-Society Task Force on Colorectal Cancer, and the American College of Radiology.
Cancer risk in mutation carriers of DNA-mismatch-repair genes.
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease.
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).
Controlled 15-year trial on screening for colorectal cancer in families with hereditary nonpolyposis colorectal cancer.
Endonucleolytic function of MutLalpha in human mismatch repair.
The crystal structure of DNA mismatch repair protein MutS binding to a G x T mismatch.
Mutations of two PMS homologues in hereditary nonpolyposis colon cancer.
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC.
Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer.
Mutation of a mutL homolog in hereditary colon cancer.
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.
Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability.
Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability.
Carotid Body Tumor
Clonality of parathyroid tumors in familial multiple endocrine neoplasia type 1.
Secretion of chromogranin A by peptide-producing endocrine neoplasms.
Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs.
Somatic mutation of the MEN1 gene in parathyroid tumours.
Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma.
Formalin fixation for electron microscopy: a re-evaluation.
Clinical review 122: Parathyroid carcinoma.
Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene.
Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours.
Study of a kindred with pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism and Cushing's disease: multiple endocrine neoplasia, type 2.
Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.
The cyclins and cyclin-dependent kinase inhibitors in hormonal regulation of proliferation and differentiation.
Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
A structural basis for drug-induced long QT syndrome.
Modelling the long QT syndrome with induced pluripotent stem cells.
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.
Molecular mechanism for an inherited cardiac arrhythmia.
Channelopathies linked to plasma membrane phosphoinositides.
Transcriptional upregulation of Cav3.2 mediates epileptogenesis in the pilocarpine model of epilepsy.
HCN channelopathy in external globus pallidus neurons in models of Parkinson's disease.
Mislocalization of h channel subunits underlies h channelopathy in temporal lobe epilepsy.
BK channel activation: structural and functional insights.
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.
NaV1.1 channels and epilepsy.
Inherited arrhythmias: a National Heart, Lung, and Blood Institute and Office of Rare Diseases workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations a...
TRP channels in disease.
Chloride channels: often enigmatic, rarely predictable.
Inherited neuronal ion channelopathies: new windows on complex neurological diseases.
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
Progressive dendritic HCN channelopathy during epileptogenesis in the rat pilocarpine model of epilepsy.
Emerging perspectives in store-operated Ca2+ entry: roles of Orai, Stim and TRP.
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome.
HERG, a human inward rectifier in the voltage-gated potassium channel family.
Hyperpolarization-activated cation channels: from genes to function.
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels.
Transient receptor potential cation channels in disease.
A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel.
Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1.
PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
Pharmacogenomics of anesthetic drugs in transgenic LQT1 and LQT2 rabbits reveal genotype-specific differential effects on cardiac repolarization.
Congenital and acquired long QT syndrome. Current concepts and management.
Beta-blocker efficacy in high-risk patients with the congenital long-QT syndrome types 1 and 2: implications for patient management.
Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans.
Functional coassembly of KCNQ4 with KCNE-beta- subunits in Xenopus oocytes.
Disease characterization using LQTS-specific induced pluripotent stem cells.
R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.
Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome.
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.
Epinephrine unmasks latent mutation carriers with LQT1 form of congenital long-QT syndrome.
Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).
Epinephrine QT stress testing in the evaluation of congenital long-QT syndrome: diagnostic accuracy of the paradoxical QT response.