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Techniques for the Diagnosis of Rare Genetic Disorders
Rare genetic disorders are hereditary conditions brought on by changes or mutations in a person’s DNA. A few people are affected by these illnesses,...
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Rare Genetic Disorders Advancements in Diagnosis and Treatment
This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging...
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Prenatal Diagnosis of Genetic Disorders by DNA Profiling
Several genetic disorders can have a variable age of onset from newborn period to adulthood. Some of the disorders cause significant morbidity and...
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Diagnosis of Genetic Disorders by DNA Analysis
DNA diagnostic tools have revolutionized modern medicine. Rapid and cost-effective technologies have changed the way genetic diseases are being...
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Introduction to Rare Genetic Disorders
Rare genetic disorders are a group of diseases that are caused by changes in a person’s genes. These changes can be inherited from parents or occur...
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Haplotype-Assisted Noninvasive Prenatal Diagnosis of Genetic Diseases by Massively Parallel Sequencing of Maternal Plasma Cell-Free DNA
Early prenatal diagnosis of genetic diseases allows for timely intervention or prevention of the diseases in newborns. Conventional prenatal...
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Raman Spectroscopy of Blood Serum for Essential Thrombocythemia Diagnosis: Correlation with Genetic Mutations and Optimization of Laser Wavelengths
Essential thrombocythemia (ET) is a type of myeloproliferative neoplasm that increases the risk of thrombosis. To diagnose this disease, the analysis...
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Prenatal Screening and Counseling for Rare Genetic Disorders
Genetic counseling is an important component of healthcare that provides individuals and families affected by rare genetic illnesses with important...
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Genetic Testing in Endometrial Cancer
Endometrial carcinoma is one of the most commonly occurring gynecological malignancies. It is diagnosed mostly at the age of 50, yet 5% of cases...
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NGS study in a sicilian case series with a genetic diagnosis for Gerstmann-Sträussler-Scheinker syndrome (PRNP, p.P102L)
BackgroundGerstmann Sträussler Scheinker (GSS) is an inherited, invariably fatal prion disease. Like other human prion diseases, GSS is caused by...
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Genetic Testing in Recurrent Pregnancy Loss
Human pregnancy is a surprisingly inefficient process; approximately 5–10% of clinically recognized pregnancies end in miscarriages. Approximately...
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Wheat Genetic Resources
In order to continue humanity, we need to feed the growing population and practice agriculture in harmony with the changing environmental conditions....
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Identification of common genetic factors and immune-related pathways associating more than two autoimmune disorders: implications on risk, diagnosis, and treatment
Autoimmune disorders (ADs) are chronic conditions resulting from failure or breakdown of immunological tolerance, resulting in the host immune system...
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Preimplantation Genetic Testing
The two most crucial factors limiting the success of assisted reproduction are the quality of the embryo and the endometrium. The lacuna in the...
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Prenatal Genetic Testing
Screening pregnancies for genetic disorders has become an integral part of antenatal care. Presently, a wide variety of prenatal screening tests in...
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Prenatal Diagnosis of Genetic Disorders by DNA Profiling
Several genetic disorders can have a variable age of onset from newborn period to adulthood. Some of the disorders cause significant morbidity and...
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Genetic Counseling in Reproductive Medicine
Genetics is a rapidly changing landscape, and its applications have expanded into many areas of medicine, including human reproduction and...
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Diagnosis of Genetic Disorders by DNA Analysis
DNA diagnostic tools have revolutionized modern medicine. Rapid and cost-effective technologies have changed the way genetic diseases are being...
