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509601 to 509700 most common queries
List represents a sample of symptoms, diseases, and other queries. Updated weekly.
Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.
Molecular mechanisms of inherited cardiomyopathies.
Nebulette mutations are associated with dilated cardiomyopathy and endocardial fibroelastosis.
An X-linked recessive cardiomyopathy with abnormal mitochondria.
Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?
Maternal anti-Ro and anti-La antibody-associated endocardial fibroelastosis.
Sildenafil (Viagra) attenuates ischemic cardiomyopathy and improves left ventricular function in mice.
Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984.
Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block.
hypertension, dyspnea, acute, pain, chills, bone pain, flatulence, right side, abdominal pain worsens with movement, joint pain, chest pain, acute pain, pyrosis, chest pain worse on breathing, exertional chest pain, black stools
Balloon dilatation of the aortic valve in the fetus: a report of two cases.
Influence of collagen network on left ventricular systolic and diastolic function in aortic valve disease.
Infarct expansion: pathologic analysis of 204 patients with a single myocardial infarct.
The in vivo role of p38 MAP kinases in cardiac remodeling and restrictive cardiomyopathy.
Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.
The Leiden Thrombophilia Study (LETS).
Frequency of pregnancy-related venous thromboembolism in anticoagulant factor-deficient women: implications for prophylaxis.
Thrombosis and a hypercoagulable state in HIV-infected patients.
Generation and phenotypic analysis of protein S-deficient mice.
Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis.
Underlying disorders associated with severe early-onset preeclampsia.
Lack of protein S in mice causes embryonic lethal coagulopathy and vascular dysgenesis.
Structure of the C-terminal laminin G-like domain pair of the laminin alpha2 chain harbouring binding sites for alpha-dystroglycan and heparin.
Factor V Leiden and antiphospholipid antibodies are significant risk factors for ischemic stroke in children.
Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study)
Increased fetal loss in women with heritable thrombophilia.
The clinical spectrum of heterozygous protein C deficiency in a large New England kindred.
Advances in understanding pathogenic mechanisms of thrombophilic disorders.
Aggravation of endotoxin-induced disseminated intravascular coagulation and cytokine activation in heterozygous protein-C-deficient mice.
Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect.
Low levels of protein C are associated with poor outcome in severe sepsis.
Prospective assessment of risk factors for recurrent stroke during childhood--a 5-year follow-up study.
Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study.
Inherited thrombophilia: Part 1.
Absence of thrombosis in subjects with heterozygous protein C deficiency.
Inactivation of the gene for anticoagulant protein C causes lethal perinatal consumptive coagulopathy in mice.
Hyperhomocysteinemia as a risk factor for deep-vein thrombosis.
Resistance to activated protein C as a basis for venous thrombosis.
Drotrecogin alfa (activated) in adults with septic shock.
Emerging anticoagulants for the treatment of venous thromboembolism.
Effect of chronic wound exudates and MMP-2/-9 inhibitor on angiogenesis in vitro.
Relationship between changes in the deep venous system and the development of the postthrombotic syndrome after an acute episode of lower limb deep vein thrombosis: a one- to six-year follow-up.
The post-thrombotic syndrome: risk factors and impact on the course of thrombotic disease.
The post-thrombotic syndrome: current knowledge, controversies, and directions for future research.
New anticoagulants for treatment of venous thromboembolism.
A cross-sectional study evaluating post-thrombotic syndrome in children.
Effect of postthrombotic syndrome on health-related quality of life after deep venous thrombosis.
Automated computer interviews to elicit utilities: potential applications in the treatment of deep venous thrombosis.
A thrombolytic regimen for high-risk deep venous thrombosis may substantially reduce the risk of postthrombotic syndrome in children.
A decision analysis of streptokinase plus heparin as compared with heparin alone for deep-vein thrombosis.
Valvular reflux after deep vein thrombosis: incidence and time of occurrence.
Deep venous insufficiency: the relationship between lysis and subsequent reflux.
Economic burden of deep-vein thrombosis, pulmonary embolism, and post-thrombotic syndrome.
Prevention and treatment of postphlebitic syndrome: results of a 3-part study.
Relationship between deep venous thrombosis and the postthrombotic syndrome.
Post-thrombotic syndrome, recurrence, and death 10 years after the first episode of venous thromboembolism treated with warfarin for 6 weeks or 6 months.
Randomised trial of effect of compression stockings in patients with symptomatic proximal-vein thrombosis.
Below-knee elastic compression stockings to prevent the post-thrombotic syndrome: a randomized, controlled trial.
Incorporating patients' preferences into medical decisions.
XXY (Klinefelter syndrome): a pediatric quantitative brain magnetic resonance imaging case-control study.
Klinefelter's syndrome (XXY) as a genetic model for psychotic disorders.
A sex-linked blood group.
Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark.
Psychiatric characteristics in a self-selected sample of boys with Klinefelter syndrome.
Aromatase inhibitors for male infertility.
Rates of chromosome abnormalities at different maternal ages.
Chromosome aberrations in 2159 consecutive newborn babies.
47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counselling.
Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study.
Male infertility: role of genetic background.
Increased susceptibility to infection associated with abnormalities of complement-mediated functions and of the third component of complement (C3).
The chromosomes in a patient showing both mongolism and the Klinefelter syndrome.
right leg pain, numbness, tingling, weight loss, night sweats
Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus patients: support for the notion of a gene-dose effect from the X chromosome.
Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.
X-Y chromosomal interchange in the aetiology of true hermaphroditism and of XX Klinefelter's syndrome.
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
Perrault syndrome with Marfanoid habitus in two siblings.
Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses.
Age-specific changes in sex steroid biosynthesis and sex development.
A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9.
46,XX sex reversal.
SRY-negative 46,XX male with normal genitals, complete masculinization and infertility.
An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16.
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription.
P450c17 deficiency: clinical and molecular characterization of six patients.
BMP15 mutations in XX gonadal dysgenesis and premature ovarian failure.
Lipid profiles in women with 45,X vs 46,XX primary ovarian failure.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Clinical, endocrinological, and epigenetic features of the 46,XX male syndrome, compared with 47,XXY Klinefelter patients.
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.
Adnexal Mass, Vaginal Discharge, pain, cheesy vaginal discharge, foul smelling vaginal discharge, acute pain
Quality of life in 70 women with disorders of sex development.
Vasculopathy in Turner syndrome: arterial dilatation and intimal thickening without endothelial dysfunction.
Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia.
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome.
Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome.