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Genetic screening --- Ovarian Neoplasms --- Ovarian Neoplasms --- Genetic Testing --- Genomics --- Models, Genetic. --- diagnosis. --- genetics. --- methods. --- methods.
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Thromboembolism --- Human chromosome abnormalities --- Venous Thromboembolism. --- Factor V --- Genetic Testing. --- Predictive Value of Tests. --- Diagnosis --- genetics.
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The V Leiden factor mutation is a genetic abnormality resulting of a punctual modification at the level of the gene coding for this factor of coagulation. This one constitutes one of the most important risk factors of genetic origin for thrombophilia. It represents, in the phenomenon of the haemostasis, a form of resistance to the activated protein C. So the persons who express it present a greater risk of developing, in the presence of the other predisposing factors, a venous thrombosis associated or unassociated with a pulmonary embolism. The tests that are used for the screening of this mutation are made according to certain criteria and not in a systematic way. We shall begin at first with a phenotypic test who is an activated protein C resistance one. If this one is positive, a genetic test can be considered to confirm the diagnosis and determine the homozygous or heterozygous character of the individual. The treatment of the venous thromboembolic diseases will be similar to the recommended one in the absence of the mutation. A preventive treatment against these diseases is cons-indicated except in certain cases where we shah recommend the taking of anticoagulants medicines during middle/long term La mutation du facteur V Leiden est une anomalie génétique qui résulte d’une modification ponctuelle au niveau du gène codant pour ce facteur de coagulation. Celle-ci constitue un des facteurs de risque d’origine génétique le plus important pour la thrombophilie. Elle représente, dans le phénomène de l’hémostase, une forme de résistance à la protéine C activée. Les personnes qui l’expriment présentent donc un risque accru de développer, en présence d’autres facteurs prédisposant, une thrombose veineuse associée ou non à une embolie pulmonaire. Les tests qui sont utilisés pour le dépistage de cette mutation se font selon certains critères et non de manière systématique. On commencera d’abord par un test phénotypique de résistance à la protéine C activée et seulement si celui-ci se révèle positif, un test génétique pourra être envisagé pour confirmer le diagnostic et déterminer le caractère homozygote ou hétérozygote de l’individu. Le traitement des maladies thromboemboliques sera semblable à celui recommandé en l’absence de la mutation. Un traitement préventif contre ces maladies est contre-indiqué sauf dans certains cas où l’on conseillera la prise de médicaments anticoagulants à moyen/long terme.
factor V Leiden --- Activated Protein C Resistance --- Molecular Biology --- Genetic Testing
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"Progress in genetic knowledge is profoundly affecting medical practice, and no clinical specialty has more diseases associated with genetic mutations than neurology. As a more complete picture of the genes which give rise to neurological disease is obtained, trainee and practising neurologists need a guide to basic principles and the more important clinical entities with a genetic component. It is against this background that Neurogenetics: A Guide for Clinicians has been written. The book opens with coverage of genetic testing and counselling. Subsequent chapters discuss genetic factors for all the major neurological diseases, including epilepsy, Alzheimer's disease, Parkinsonism and muscular dystrophies. No book in this field can hope to be fully up to date with the latest research; rather this work provides a framework on which to add new genetic discoveries. Neurogenetics: A Guide for Clinicians provides a synoptic overview for neurologists, medical geneticists and scientists working in the field"--Provided by publisher.
Genetic Diseases, Inborn --- Genetic Testing. --- Nervous System Diseases --- Nervous system --- Neurogenetics. --- etiology. --- genetics. --- Diseases --- Genetic aspects.
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"Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation"--Publisher's description.
Genetics --- Prenatal diagnosis. --- Diagnosis, Noninvasive. --- Genetic Testing. --- Prenatal Diagnosis. --- DNA --- blood.
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The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of “accessory” deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders.
genetic variants --- Cardiovascular Diseases --- Genetic Testing --- channelopathy --- variant interpretation --- NGS --- Sudden cardiac death --- cardiomyopathy --- Cardiovascular genetics
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Genetic screening --- Ovarian Neoplasms --- Ovarian Neoplasms --- Genetic Testing --- Genomics --- Models, Genetic. --- diagnosis. --- genetics. --- methods. --- methods.
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Thromboembolism --- Human chromosome abnormalities --- Venous Thromboembolism. --- Factor V --- Genetic Testing. --- Predictive Value of Tests. --- Diagnosis --- genetics.
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Cystic Fibrosis --- Hemoglobinopathies --- Genetic Carrier Screening --- Preconception Care --- Genetic Testing --- genetics --- genetics --- methods --- methods --- methods
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Genetic screening --- Ovarian Neoplasms --- Ovarian Neoplasms --- Genetic Testing --- Genomics --- Models, Genetic. --- diagnosis. --- genetics. --- methods. --- methods.