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Genetics --- Genetics, Medical --- Genetic Predisposition to Disease --- Genetic Screening --- Genome --- Medical genetics --- Genomics --- Génétique médicale --- Génomique --- Periodicals. --- Périodiques --- Genomes --- Human genome --- Genetics, Medical. --- Genome. --- Genetic Testing. --- Genetic Predisposition to Disease. --- Genomes. --- Human genome. --- Medical genetics. --- Chemistry --- Health Sciences --- Life Sciences --- Biochemistry --- Pathology --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Predictive Genetic Testing --- Predictive Testing, Genetic --- Testing, Genetic Predisposition --- Genetic Predisposition Testing --- Genetic Predictive Testing --- Genetic Screenings --- Genetic Testing, Predictive --- Predisposition Testing, Genetic --- Screening, Genetic --- Screenings, Genetic --- Testing, Genetic --- Testing, Genetic Predictive --- Testing, Predictive Genetic --- Human Genetics --- Medical Genetics --- Genetics, Human --- genetics --- diagnosis --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Prenatal Diagnosis --- Preimplantation Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Genes --- Proteome --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Human chromosomes --- Haploidy --- Clinical genetics --- Diseases --- Heredity of disease --- Human genetics --- Medical sciences --- Genetic disorders --- Genetic aspects
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Medical genetics --- Genetic disorders --- Public health --- Community health services --- Epidemiology --- Community health services. --- Epidemiology. --- Medical genetics. --- Public health. --- Genetics, Medical. --- Diagnosis --- Diagnosis. --- Genetic Testing --- Genetics, Medical --- Health Education --- Primary Health Care --- Primary Healthcare --- Primary Care --- Care, Primary --- Care, Primary Health --- Health Care, Primary --- Healthcare, Primary --- Education, Community Health --- Health Education, Community --- Community Health Education --- Education, Health --- Health --- Human Genetics --- Medical Genetics --- Genetics, Human --- Genetic Screening --- Predictive Genetic Testing --- Predictive Testing, Genetic --- Testing, Genetic Predisposition --- Genetic Predisposition Testing --- Genetic Predictive Testing --- Genetic Screenings --- Genetic Testing, Predictive --- Predisposition Testing, Genetic --- Screening, Genetic --- Screenings, Genetic --- Testing, Genetic --- Testing, Genetic Predictive --- Testing, Predictive Genetic --- Genetic Predisposition to Disease --- Community health --- Health services --- Hygiene, Public --- Hygiene, Social --- Public health services --- Public hygiene --- Sanitary affairs --- Social hygiene --- Clinical genetics --- Diseases --- Heredity of disease --- Genetic diagnosis --- Neighborhood health centers --- Congenital diseases --- Disorders, Genetic --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- education --- diagnosis --- Genetic aspects --- Community Health Services --- Community Healthcare --- Health Services, Community --- Services, Community Health --- Community Health Care --- Care, Community Health --- Community Health Service --- Community Healthcares --- Health Care, Community --- Health Service, Community --- Healthcare, Community --- Healthcares, Community --- Service, Community Health --- Anthropology, Physical --- Chromosome Disorders --- Sex Chromosome Disorders --- Genetic Diseases, Inborn --- Molecular Medicine --- Prenatal Diagnosis --- Preimplantation Diagnosis --- Cytogenetic Analysis --- Molecular Diagnostic Techniques --- Databases, Genetic --- Databases, Nucleic Acid --- Genetic Privacy --- Human services --- Biosecurity --- Health literacy --- Medicine, Preventive --- National health services --- Sanitation --- Human genetics --- Medical sciences --- Pathology --- Regional medical programs --- Public Health Administration --- Social Work --- Community Health Planning --- Health Sciences --- Genetics --- Genetic Testing. --- Health Education. --- Primary Health Care. --- Access to Primary Care
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Genetic Diseases, Inborn --- Genetics, Medical --- Genetic Predisposition to Disease --- Genetic Techniques --- Genetic Counseling --- genetics --- methods --- Medical genetics. --- Genetic Counseling. --- Genetic Predisposition to Disease. --- Genetic Techniques. --- Génétique médicale --- Maladies héréditaires --- Conseil génétique --- genetics. --- methods. --- Counseling, Genetic --- Genetic Counseling, Prenatal --- Prenatal Genetic Counseling --- Eugenics --- Prenatal Diagnosis --- Directive Counseling --- Genetic Technic --- Genetic Technics --- Genetic Technique --- Technic, Genetic --- Technics, Genetic --- Technique, Genetic --- Techniques, Genetic --- Genetics --- Genetic Phenomena --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Human genetics --- Génétique médicale. --- Maladies héréditaires. --- Conseil génétique.
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Human genetics --- Medical genetics --- Genetic Diseases, Inborn --- Genetics, Medical --- Genetic Predisposition to Disease --- Genetic Techniques --- Genetic Counseling --- Clinical genetics --- Diseases --- Heredity of disease --- Medical sciences --- Pathology --- Genetic disorders --- Genetic Technic --- Genetic Technics --- Genetic Technique --- Technic, Genetic --- Technics, Genetic --- Technique, Genetic --- Techniques, Genetic --- Genetics --- Genetic Phenomena --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Counseling, Genetic --- Genetic Counseling, Prenatal --- Prenatal Genetic Counseling --- Eugenics --- Prenatal Diagnosis --- Directive Counseling --- genetics --- methods --- Genetic aspects
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Genetics --- Prenatal diagnosis --- Prenatal Diagnosis --- Diagnostics prénatals --- Periodicals --- periodicals --- Périodiques --- Fetus --- Prenatal diagnosis. --- Diseases --- Diagnosis --- Diagnosis. --- Prenatal Diagnosis. --- Antenatal Diagnosis --- Antenatal Screening --- Diagnosis, Antenatal --- Diagnosis, Intrauterine --- Prenatal Screening --- Diagnosis, Prenatal --- Intrauterine Diagnosis --- Antenatal Diagnoses --- Antenatal Screenings --- Diagnoses, Antenatal --- Diagnoses, Intrauterine --- Diagnoses, Prenatal --- Intrauterine Diagnoses --- Prenatal Diagnoses --- Prenatal Screenings --- Screening, Antenatal --- Screening, Prenatal --- Screenings, Antenatal --- Screenings, Prenatal --- Genetic Testing --- Neonatal Screening --- Preimplantation Diagnosis --- Genetic Services --- Obstetrics --- Health Sciences --- General and Others --- Life Sciences --- Clinical Medicine --- Obstetrics and Gynecology --- Obstetrics. --- Health Sciences. --- Genetics. --- Life Sciences. --- Diagnostics prénatals --- Périodiques --- EJMEDEC EPUB-ALPHA-P EPUB-PER-FT MDGYNECO WILEY-E --- periodicals. --- MDGYNECO --- Genetica --- Fetal Diagnosis --- Fetal Imaging --- Fetal Screening --- Diagnosis, Fetal --- Fetal Diagnoses --- Fetal Imagings --- Fetal Screenings --- Imaging, Fetal --- Screening, Fetal
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Tal van erfelijke aandoeningen kunnen, lang voor er symptomen zijn, opgespoord worden via een genetische test, meer bepaald via DNA-onderzoek. In vakkringen spreekt men van ‘predictieve’ (voorspellende/voorzeggende/waarschuwende) tests. Een stijgend aantal mensen doet een beroep op de genetische centra voor een erfelijkheidsraadpleging en/of een genetische test. Ze maken zich zorgen dat ze later misschien de ziekte kunnen krijgen die een of meerdere familieleden heeft. Een predictieve test biedt soms de mogelijkheid om hun eigen toekomst te kennen, althans wat die ziekte betreft. De test gaat na of een symptoomloos persoon een mutatie heeft die zeker of met een hoge kans leidt tot een erfelijke ziekte later in het leven. Personen met die mutatie zijn dus nog geen 'patiënten'. Sommige onder hen zullen zelfs nooit de aandoening krijgen. De persoonlijke beslissing om een predictieve test te laten uitvoeren is vaak een heel moeilijk proces. Dit is vooral zo als er geen behandeling of preventie voor de ziekte bestaat of alleen door ingrijpende maatregelen, zoals preventieve chirurgie. Slechts één vijfde van de mogelijke dragers van een erfelijke aandoening laat zich testen. Bij de tachtig procent die zich niet laat testen zijn er zeker velen die liever niet weten of ze later al dan niet ziek zullen worden. Over de mogelijkheden en beperkingen van genetisch testen en de psychologische, familiale, maatschappelijke en ethische implicaties ervan zijn niet alleen de potentiële aanvragers van deze tests, maar ook vele professionelen in de gezondheidszorg onvoldoende op de hoogte. Toch is er behoefte aan meer informatie. Met dit boek willen de auteurs, werkzaam aan de K.U.Leuven en/of het UZ te Leuven, hieraan tegemoet komen. Tot slot inventariseren ze de mogelijkheden en beperkingen van predictieve genetische tests voor een aantal andere neurodegeneratieve aandoeningen resp. erfelijke kankers. Ook recent beschikbare mogelijkheden met betrekking tot erfelijke hartaandoeningen, meer bepaald erfelijke hartritmestoornissen, passeren de revue. Het werk bevat een aantal nuttige bijlagen: een adressenlijst van genetische centra in België en Nederland en een uitgebreide verklarende woordenlijst. Het boek is vooral geschreven voor beroepsgroepen die op een of andere manier betrokken kunnen worden bij predictief genetisch testen: huisartsen, verpleegkundigen en andere professionelen uit de gezondheidszorg maar ook juristen, ethici en beleidsverantwoordelijken. De toegankelijkheid voor patiënten en families met erfelijke aandoeningen is naar mijn mening beperkt. Het gaat immers over een onderzoeksverslag. Gelukkig zijn er vele persoonlijke getuigenissen opgenomen. Zij kozen voor twee soorten erfelijke aandoeningen. De ziekte van Huntington staat model voor het testen op neurodegeneratieve aandoeningen die meestal op volwassen leeftijd optreden en waarvoor nog geen afdoende behandeling bestaat. De erfelijke vorm van borst- en eierstokkanker wordt gebruikt als uitgangspunt voor een aantal andere erfelijke kankers. Dragers van de mutatie voor erfelijke borst- en eierstokkanker kunnen wel preventieve, zij het ingrijpende, maatregelen nemen. Voor iedere aandoening belichten ze eerst welke soorten predictieve genetische tests kunnen uitgevoerd worden en hoe dit in de praktijk verloopt. De procedure is uitgebreid en gebeurt altijd in een multidisciplinair kader. Zij hebben ook een ruime groep huisartsen, verpleegkundigen en vroedvrouwen, patiëntenorganisaties en onderzoekers in de biotechnologie bevraagd over de wenselijkheid van genetische testen. De auteurs besteden naar verhouding echter veel ruimte aan de uitkomsten van deze bevraging en te weinig aan conclusies, bijvoorbeeld in verband met sensibilisering van de bevolking.
Genetic Testing --- Genetic Predisposition to Disease. --- Academic collection --- C6 --- genetica --- predictieve genetische test (voorspellende genetische test) --- erfelijkheid (erfelijke aanleg) --- 600.2 --- 605.99 --- aangeboren afwijkingen --- borstkanker --- chorea van Huntington --- eierstokkanker --- erfelijkheidsleer --- geneeskunde --- genetische afwijkingen --- gezondheidszorg --- predictieve genetische test --- 599.2 --- chorea van Huntington (Huntington) --- erfelijke ziekten --- genetisch advies --- genetisch risico --- ovariumcarcinoom --- prenatale diagnose --- Erfelijkheidsleer --- Genetica --- Genetisch onderzoek: ethiek --- Genetisch onderzoek: sociale aspecten --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- methods. --- Opvoeding, onderwijs, wetenschap --- test génétique prédictif --- hérédité (disposition héréditaire, prédisposition héréditaire) --- Andere speciale ziekten - Genetologie - Aangeboren en erfelijke afwijkingen - Chronische ziekten --- (zie ook: gynecologie) --- (zie ook: genetisch advies) --- genetics --- Molecular biology --- tests --- medische genetica --- Genetisch onderzoek ; ethiek --- Borstkanker --- Ziekte van Huntington --- Genetic Predisposition to Disease --- methods --- Gezondheidszorg --- Ziekte --- Erfelijkheid --- Psychosociale problemen --- Provincie West-Vlaanderen --- Psychosociaal probleem --- Onderzoek --- Ontwikkeling --- Leerlijn
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'The Art of Human Molecular Genetics 3 'CD-ROM contains the complete set of figures from the book for presentation. The figures are available in JPEG and PowerPoint format.
Human genetics --- genetica --- Molecular biology --- Molecular Biology --- Genome, Human --- Chromosome Mapping --- Genetic Screening --- Human molecular genetics --- Génétique moléculaire humaine --- Human molecular genetics. --- Genetics. --- 577.2 --- 57.083 --- 57.088 --- 575.1 --- 577.21 --- 612.015 --- DNA deoxyribonucleic acid --- DNA vingerafdruk --- Human Genome Project --- PCR polymerase chain reaction --- biologie --- celbiologie --- cellen --- chromosomen --- clonen --- erfelijke ziekten --- evolutie --- expressie --- genetische manipulatie --- gentherapie --- menselijke biologie --- microbiologie --- moleculaire biologie --- mutaties --- organen --- polymorfisme --- recombinant DNA --- weefsels --- Genetic Processes --- Genetic Structures --- Genetic Phenomena --- Molecular bases of life. Molecular biology --- Erfelijkheid. Overerving --- 577.2 Molecular bases of life. Molecular biology --- Genetic Testing. --- Génétique moléculaire humaine --- Genetics --- Molecular genetics --- Molecular Biology. --- Genome, Human. --- Chromosome Mapping. --- Moleculaire biologie --- Menselijke genetica --- GENOME, HUMAN --- HUMAN --- GENES --- CHROMOSOMES, HUMAN --- GENE EXPRESSION --- GENETIC TECHNIQUES --- HUMAN GENOME PROJECT --- GENETICS, POPULATION --- Humans. --- Genes. --- Chromosomes, Human. --- Gene Expression. --- Genetic Techniques. --- Human Genome Project. --- Genetics, Population. --- Acqui 2006 --- Humans --- Genes --- Chromosomes, Human --- Gene Expression --- Genetic Techniques --- Genetics, Population
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Diagnostic imaging --- Molecular biology --- Diagnostic Imaging --- Cytological Techniques --- Molecular Diagnostic Techniques --- methods --- Diagnostic imaging. --- Molecular biology. --- Cytological Techniques. --- Molecular Diagnostic Techniques. --- methods. --- Histology. --- Molecular Imaging. --- Molecular Diagnostic Technics --- Molecular Diagnostic Testing --- Diagnostic Technic, Molecular --- Diagnostic Technics, Molecular --- Diagnostic Technique, Molecular --- Diagnostic Techniques, Molecular --- Diagnostic Testing, Molecular --- Molecular Diagnostic Technic --- Molecular Diagnostic Technique --- Technic, Molecular Diagnostic --- Technics, Molecular Diagnostic --- Technique, Molecular Diagnostic --- Techniques, Molecular Diagnostic --- Testing, Molecular Diagnostic --- Cytologic Technics --- Cytological Technic --- Cytological Technics --- Cytological Technique --- Technic, Cytological --- Technics, Cytological --- Technique, Cytological --- Techniques, Cytological --- Cytologic Technic --- Technic, Cytologic --- Technics, Cytologic --- Cell Biology --- Molecular biochemistry --- Molecular biophysics --- Clinical imaging --- Imaging, Diagnostic --- Medical diagnostic imaging --- Medical imaging --- Noninvasive medical imaging --- noninvasive imaging --- molecular imaging --- cellular biology --- normal and disease processes --- non-nuclear techniques --- Genetic Testing --- Cytogenetic Analysis --- Biochemistry --- Biophysics --- Biomolecules --- Systems biology --- Diagnosis, Noninvasive --- Imaging systems in medicine --- Health Sciences --- Life Sciences --- Clinical Medicine --- General and Others --- Biology --- Micro and Molecular Biology --- Molecular Testing --- Testing, Molecular --- Cytology
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Pathogenetics is a peer-reviewed, online open access journal, which features studies on the pathogenesis of genetic diseases, phenotypes and traits. Such studies may use molecular, biochemical, cellular, and physiological methods, as well as genome-wide approaches, to provide novel insights into the biological mechanisms underlying the phenotypic manifestations of genetic diseases.
Genetic Diseases, Inborn --- Genetic Diseases, X-Linked --- Genetic Predisposition to Disease --- Genetic disorders --- Medical genetics --- Maladies héréditaires --- Génétique médicale --- Periodicals --- Pathogenesis --- Susceptibility --- Périodiques --- Pathogenèse --- Prédisposition --- Genetic Diseases, Inborn. --- Genetic Diseases, X-Linked. --- Genetic Predisposition to Disease. --- Predisposition, Genetic --- Susceptibility, Genetic --- Genetic Predisposition --- Genetic Susceptibility --- Genetic Predispositions --- Genetic Susceptibilities --- Predispositions, Genetic --- Susceptibilities, Genetic --- Disease Susceptibility --- Genetic Diseases, X-Chromosome Linked --- X-Linked Genetic Diseases --- Disease, X-Linked Genetic --- Diseases, X-Linked Genetic --- Genetic Disease, X-Linked --- Genetic Diseases, X Chromosome Linked --- Genetic Diseases, X Linked --- X Linked Genetic Diseases --- X-Linked Genetic Disease --- Genetic Diseases --- Genetic Disorders --- Hereditary Disease --- Inborn Genetic Diseases --- Single-Gene Defects --- Hereditary Diseases --- Defect, Single-Gene --- Defects, Single-Gene --- Disease, Genetic --- Disease, Hereditary --- Disease, Inborn Genetic --- Diseases, Genetic --- Diseases, Hereditary --- Diseases, Inborn Genetic --- Disorder, Genetic --- Disorders, Genetic --- Genetic Disease --- Genetic Disease, Inborn --- Genetic Disorder --- Inborn Genetic Disease --- Single Gene Defects --- Single-Gene Defect --- Congenital diseases --- Disorders, Inherited --- Genetic diseases --- Hereditary diseases --- Inherited diseases --- genetics --- Genetic disorders. --- Medical genetics. --- Genetic Testing --- Anticipation, Genetic --- Genetic Association Studies --- Gene-Environment Interaction --- Chromosomes, Human, X --- Genes, X-Linked --- Genetics, Medical --- Diseases --- Clinical genetics --- Heredity of disease --- Human genetics --- Medical sciences --- Pathology --- Genetic aspects
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