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Implementation of a dyadic nomenclature for monogenic diseases
The American Journal of Human GeneticsA core task when establishing the strength of evidence for a gene's role in a monogenic disorder is determining the appropriate disease entity to curate. Establishing this concept determines which evidence can be applied and quantified toward the final gene-disease validity, variant pathogenicity, or actionability classification.
Courtney Thaxton +8 more
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Monogenic causes of inflammatory disease in rheumatology
Current Opinion in Rheumatology, 2012To review the single-gene defects that can mimic rheumatologic diseases.Monogenic disorders can cause a variety of diseases that may be seen by a rheumatologist. Many of these illnesses present with recurrent episodes of arthritis, rash, fever and inflammation, and serositis. Recent discoveries have defined inflammatory diseases due to mutations in the
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Medizinische Klinik (Munich, Germany : 1983), 2008
The pathogenesis of most cardiovascular disorders is multifactorial and incompletely understood. Besides genetic influences that often arise from multiple genetic loci, the specific nutritional and environmental influences do contribute to the dysfunctional development.
Jost, Schönberger, Georg, Ertl
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The pathogenesis of most cardiovascular disorders is multifactorial and incompletely understood. Besides genetic influences that often arise from multiple genetic loci, the specific nutritional and environmental influences do contribute to the dysfunctional development.
Jost, Schönberger, Georg, Ertl
openaire +1 more source
TCS in Monogenic Forms of Parkinson’s Disease
2010During the last decade, mutations in a growing number of genes have been found to cause monogenic forms of Parkinson's disease (PD). Moreover, many studies shed light on their contribution to sporadic variants of PD. Since hyperechogenicity of the substantia nigra (SN) represents a characteristic hallmark of sporadic PD questions arise concerning the ...
Brockmann, Kathrin, Hagenah, Johann
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[Monogenic hereditary diseases].
Ugeskrift for laeger, 2003Monogenic disorders are caused by the inheritance of single gene mutations; alternatively, a monogenic disorder arises as a consequence of a de novo mutation in either the paternal or maternal germ line. The exponential increase in our understanding of the human genome has resulted in the localisation and cloning of a vast number of disease genes which
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A Systematic Review of Monogenic Inflammatory Bowel Disease
Clinical Gastroenterology and Hepatology, 2022Ryusuke Nambu +2 more
exaly
Comprehensive Genetic Analysis Reveals Complexity of Monogenic Urinary Stone Disease
Kidney International Reports, 2021Andrea G Cogal +2 more
exaly
Clinical and laboratory predictors of monogenic very early onset inflammatory bowel disease
Clinical Immunology, 2022Judith R Kelsen +2 more
exaly
Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort
Movement Disorders, 2023Faycel Hentati +2 more
exaly