-
81
Genetic, Functional, and Immunological Study of ZnT8 in Diabetes
Published 2019-01-01Get full text
Article -
82
Value of medical genetic consultation at digestive organs diseases
Published 2014-07-01“…Detection of disorders of functioning of various genes and duly medical genetic consultation allow to carry out early diagnostics, choose optimum mode of treatment and prevent diseases of GIT.…”
Get full text
Article -
83
Genetic screening of South African families with Parkinson’s disease
Published 2024-02-01Get full text
Article -
84
Modern classification and molecular-genetic aspects of osteogenesis imperfecta
Published 2020-04-01“…It is based on genetic disorders leading to a violation of the structure of bone tissue, which leads to frequent fractures, impaired growth and posture, with the development of characteristic disabling bone deformities and associated problems, including respiratory, neurological, cardiac, renal impairment, hearing loss. …”
Get full text
Article -
85
Molecular Mechanisms Regulating Hepcidin Revealed by Hepcidin Disorders
Published 2011-01-01“…Disruption of these regulatory loops leads to genetic diseases characterized by iron deficiency (iron-refractory iron-deficiency anemia) or iron overload (hemochromatosis). …”
Get full text
Article -
86
Social Experience-Dependent Myelination: An Implication for Psychiatric Disorders
Published 2015-01-01“…It has been shown that myelin formation depends on genetic programing and experience, including multiple factors, intracellular and extracellular molecules, and neuronal activities. …”
Get full text
Article -
87
Unraveling the genetic spectrum of inherited deaf-blindness in Portugal
Published 2025-01-01“…Abstract Background Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. …”
Get full text
Article -
88
Bipolar Disorder and Multiple Sclerosis: A Case Series
Published 2014-01-01“…We report three cases of MS and bipolar disorder and we discuss the possible etiological hypothesis and treatment options. …”
Get full text
Article -
89
Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives
Published 2025-01-01“…While some disease-altering treatments offer relief and slow the progression of certain conditions, the majority of monogenic disorders still lack effective therapies. In recent years, gene therapy has appeared as a promising approach for addressing genetic disorders. …”
Get full text
Article -
90
It is time to tackle psychological determinants of obesity and eating disorders
Published 2019-03-01“…Obesity is a complex condition associated with many medical disorders as well as with psychological and emotional issues, as obese individuals are at high risk of developing psychiatric disorder [8] and given that etiological basis of eating disorders and obesity usually lies in some combination of psychosocial, environmental, and genetic or biological aspects, which often focus on body image problems. …”
Get full text
Article -
91
Genetic evidence for the causal effect of clonal hematopoiesis on pulmonary arterial hypertension
Published 2025-01-01Get full text
Article -
92
-
93
-
94
The Molecular Genetics and Cellular Mechanisms Underlying Pulmonary Arterial Hypertension
Published 2012-01-01“…In this paper, the molecular genetic basis of the disorder is discussed in detail ranging from the original identification of the major genetic contributant to PAH and moving on to current next-generation technologies that have led to the rapid identification of additional genetic risk factors. …”
Get full text
Article -
95
Current Evidence and Insights about Genetics in Thoracic Aorta Disease
Published 2013-01-01“…However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. …”
Get full text
Article -
96
Genetics of Inflammatory Bowel Disease: Current Understanding and Future Directions
Published 2024-12-01“…IBD is a complex gastrointestinal disorder influenced by a combination of genetic and environmental factors. …”
Get full text
Article -
97
CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects
Published 2025-02-01“…The methodology includes a collection and synthesis of clinical data, imaging findings, and genetic analyses from published case studies and medical literature. …”
Get full text
Article -
98
Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families
Published 2025-01-01“…Understanding its genetic basis is crucial for genetic counseling and personalized treatment options. …”
Get full text
Article -
99
Perinatal Management for a Pregnant Woman with an MYH9 Disorder
Published 2016-01-01“…We diagnosed a primipara woman with an MYH9 disorder during her pregnancy. A peripheral blood smear with an immunofluorescence analysis is the established method of diagnosing MYH9 disorders. …”
Get full text
Article -
100
Development of RNA interference-based therapy for rare genetic diseases
Published 2024-08-01“…Despite these obstacles, RNAi-based therapy holds significant potential for revolutionize the treatment of genetic disorders. …”
Get full text
Article