X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (54) 54
female (34) 34
male (32) 32
mutation (32) 32
index medicus (31) 31
genetics & heredity (27) 27
adult (23) 23
mutations (21) 21
genetic aspects (17) 17
genotype (16) 16
phenotype (16) 16
genetics (13) 13
middle aged (13) 13
adolescent (12) 12
carrier proteins - genetics (12) 12
child (11) 11
infant (11) 11
life sciences (11) 11
molecular diagnosis (11) 11
analysis (10) 10
child, preschool (10) 10
dna mutational analysis (10) 10
long qt syndrome (10) 10
niemann-pick diseases - genetics (10) 10
disease (9) 9
genes (9) 9
fibroblasts (8) 8
genetic research (8) 8
human genetics (8) 8
identification (8) 8
long qt syndrome - genetics (8) 8
research (8) 8
spectrum (8) 8
base sequence (7) 7
cardiac & cardiovascular systems (7) 7
cholesterol (7) 7
hypertrophic cardiomyopathy (7) 7
patients (7) 7
risk factors (7) 7
surgery (7) 7
trafficking (7) 7
aged (6) 6
animals (6) 6
biochemistry & molecular biology (6) 6
carrier proteins - metabolism (6) 6
dhplc (6) 6
dilated cardiomyopathy (6) 6
gene (6) 6
gene mutations (6) 6
genetic testing (6) 6
glycoproteins - genetics (6) 6
medical laboratory technology (6) 6
medicine (6) 6
molecular sequence data (6) 6
mutation - genetics (6) 6
binding sites (5) 5
carrier proteins (5) 5
carrier proteins - chemistry (5) 5
cohort studies (5) 5
death, sudden, cardiac (5) 5
diagnosis (5) 5
genetic variation (5) 5
high-throughput nucleotide sequencing - methods (5) 5
infant, newborn (5) 5
long-qt syndrome (5) 5
lysosome (5) 5
medical education (5) 5
niemann-pick-c1-disease (5) 5
npc2 (5) 5
polymorphism, genetic (5) 5
proteins (5) 5
sodium channels - genetics (5) 5
sterol-sensing domain (5) 5
unrelated patients (5) 5
age of onset (4) 4
arrhythmias (4) 4
biology (4) 4
biomedicine (4) 4
cancer (4) 4
cardiac arrhythmia (4) 4
cardiomyopathy (4) 4
cardiomyopathy, hypertrophic (4) 4
cardiomyopathy, hypertrophic - genetics (4) 4
cardiovascular (4) 4
cell line (4) 4
cholesterol - metabolism (4) 4
chromatography, high pressure liquid (4) 4
deoxyribonucleic acid--dna (4) 4
dna (4) 4
electrocardiography (4) 4
france (4) 4
genetic counseling (4) 4
guidelines (4) 4
he-1 (4) 4
heart (4) 4
high resolution melting (4) 4
medicine, research & experimental (4) 4
membrane glycoproteins - genetics (4) 4
molecular medicine (4) 4
muscle proteins - genetics (4) 4
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


European Journal of Medical Genetics, ISSN 1769-7212, 2014, Volume 57, Issue 7, pp. 350 - 351
Journal Article
The American Journal of Surgery, ISSN 0002-9610, 2005, Volume 189, Issue 6, pp. 720 - 729
Journal Article
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology, ISSN 1099-5129, 10/2018, Volume 20, Issue 10, pp. 1692 - 1698
Aims Cardiac atrial arrhythmias are the most common type of heart rhythm disorders. Its genetic elucidation remains challenging with poor understanding of... 
Atrial arrhythmias | Stroke | Children | Voltage-gated sodium channels | Fibrosis | ARRHYTHMIAS | NA(V)1.5 | CARDIAC & CARDIOVASCULAR SYSTEMS | GENETICS | GATING PORES | DEATH | DILATED CARDIOMYOPATHY
Journal Article
Molecular Diagnosis and Therapy, ISSN 1177-1062, 04/2018, Volume 22, Issue 2, pp. 219 - 223
Background Hypertrophic cardiomyopathy (HCM), a common and clinically heterogeneous disease characterized by unexplained ventricular myocardial hypertrophy, is... 
PHARMACOLOGY & PHARMACY | MICE | ESC | GUIDELINES | GENETICS & HEREDITY | Pathogens | Phenotypes | Disease | Cardiomyopathy | Genes | Genomics | Workflow | Genetic screening | Data bases | Eutrophication | Gene sequencing | Pathogenicity | Genetic counseling | Next-generation sequencing | Missense mutation | Pedigree | Genetic analysis | Myosin | Mutation | Ventricle | Hypertrophy
Journal Article
Clinica Chimica Acta, ISSN 0009-8981, 01/2016, Volume 453, pp. 80 - 85
Journal Article
Journal Article
Gene, ISSN 0378-1119, 11/2018, Volume 676, pp. 110 - 116
Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease with an estimated prevalence of 1/500. More than 40 genes have been... 
Variant | Hypertrophic cardiomyopathy | CSRP3 | Molecular diagnosis | GUIDELINES | MUSCLE LIM PROTEIN | DILATED CARDIOMYOPATHY | REGULATOR | GENETICS | PATHWAY | SARCOMERE | DEFICIENT | GENES | GENETICS & HEREDITY | MUTATIONS | Medical research | Anopheles | Cardiomyopathy, Hypertrophic | Codon | Electrocardiogram | Medicine, Experimental | Electrocardiography | Glycine
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 06/2019, Volume 62, Issue 6, p. 103527
Cardiac channelopathies, mainly Long QT and Brugada syndromes, are genetic disorders for which genotype/phenotypes relationships remains to be improved. To... 
Truncating mutations | Cardiac channelopathies | Molecular diagnosis | Brugada syndrome | Arrhythmia disorders | TRPM4
Journal Article
BMJ Open, ISSN 2044-6055, 04/2017, Volume 7, Issue 4, p. e013589
ContextThe rate of thyroid cancer is increasing in France, as well as concerns about overdiagnosis and treatment.ObjectivesTo examine the care pathway of... 
SURGERY | overdiagnosis | cancer | SYSTEM | MEDICINE, GENERAL & INTERNAL | NODULES | RISK-FACTORS | MANAGEMENT | HEMATOMA | RECOMMENDATIONS | GUIDELINES | EXPERIENCE | TIME | PAPILLARY | Thyroid Neoplasms - diagnosis | Goiter - surgery | Recurrent Laryngeal Nerve Injuries - epidemiology | Thyroid Nodule - blood | Goiter - pathology | Hyperthyroidism - diagnosis | Humans | Middle Aged | Thyroid Neoplasms - blood | Thyroid Nodule - diagnosis | Hyperthyroidism - surgery | Male | Hormone Replacement Therapy | Calcium - blood | Goiter - blood | Head and Neck Neoplasms - blood | Ultrasonography | Female | Goiter - diagnosis | Databases, Factual | Reoperation | Thyroid Neoplasms - surgery | Calcitonin - blood | France - epidemiology | Hypocalcemia - epidemiology | Hyperthyroidism - blood | Medical Overuse | Hyperthyroidism - pathology | Mortality | Postoperative Complications - epidemiology | Critical Pathways | Thyroid Diseases | Thyroidectomy | Head and Neck Neoplasms - pathology | Biopsy, Fine-Needle | Thyroid Nodule - pathology | Radionuclide Imaging | Head and Neck Neoplasms - diagnosis | Thyroid Nodule - surgery | Head and Neck Neoplasms - surgery | Thyroid Neoplasms - pathology | Health care | Health insurance | Thyroid diseases | Patients | Data bases | Information systems | Ultrasonic imaging | Thyroid cancer | Hospitals | Cellular biology | Surveillance | Surgery | Population | Health risk assessment | Public health | Life Sciences | Human health and pathology | Endocrinology and metabolism | Santé publique et épidémiologie | Cancer
Journal Article
Molecular Diagnosis and Therapy, ISSN 1177-1062, 10/2014, Volume 18, Issue 5, pp. 533 - 533
Inherited long QT syndrome (LQTS) is a cardiac channelopathy associated with a high risk of sudden death. The prevalence has been estimated at close to... 
Journal Article