Results 1 to 10 of about 47,482 (113)
Next‐generation sequence‐based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism [PDF]
Molecular Genetics & Genomic Medicine, 2021 Background Mosaicism poses challenges for genetic counseling and preimplantation genetic testing for monogenic disorders (PGT‐M). NGS‐based PGT‐M has been extensively used to prevent the transmission of monogenic defects, but it has not been evaluated in
Xiao Hu +13 more
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Advanced Understanding of Monogenic Inflammatory Bowel Disease
Frontiers in Pediatrics, 2021 Inflammatory bowel disease (IBD) is a group of chronic disorders that cause relapsing inflammation in the gastrointestinal tract and comprise three major subgroups of Crohn's disease (CD), ulcerative colitis (UC), and IBD-unclassified (IBDU).
Ryusuke Nambu +5 more
doaj +3 more sources
The role of monogenic genes in idiopathic Parkinson’s disease
Neurobiology of Disease, 2019 In the past two decades, mutations in multiple genes have been linked to autosomal dominant or recessive forms of monogenic Parkinson’s disease (PD). Collectively, these monogenic (often familial) cases account for less than 5% of all PD, the majority ...
Xylena Reed +3 more
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Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease [PDF]
Frontiers in Immunology, 2019 Monogenic autoinflammatory disorders are a group of conditions defined by systemic or localized inflammation without identifiable causes, such as infection. In contrast to classical primary immunodeficiencies that manifest with impaired immune responses,
David B. Beck, Ivona Aksentijevich
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Monogenic Lupus: A Developing Paradigm of Disease
Frontiers in Immunology, 2018 Monogenic lupus is a form of systemic lupus erythematosus (SLE) that occurs in patients with a single gene defect. This rare variant of lupus generally presents with early onset severe disease, especially affecting the kidneys and central nervous system.
Jessie M. Alperin +3 more
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Usefulness of copy number variant detection following monogenic disease exclusion in prenatal diagnosis. [PDF]
J Obstet Gynaecol Res, 2021 Shi P, Xia Y, Li Q, Kong X.
europepmc +2 more sources
Heterogeneity in Fragile X Syndrome Highlights the Need for Precision Medicine-Based Treatments
Frontiers in Psychiatry, 2021 Fragile X syndrome (FXS) is the most frequent monogenic cause of autism or intellectual disability, and research on its pathogenetic mechanisms has provided important insights on this neurodevelopmental condition.
Edgard Verdura +9 more
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The revolution in human monogenic disease mapping. [PDF]
Genes (Basel), 2014 Duncan E, Brown M, Shore EM.
europepmc +2 more sources
Frontiers in Neurology, 2022 The progressive supranuclear palsy (PSP) syndrome encompasses different entities. PSP disease of sporadic origin is the most frequent presentation, but different genetic mutations can lead either to monogenic variants of PSP disease, or to other ...
Iñigo Ruiz-Barrio +11 more
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Fertility & Reproduction, 2023 Background and Aims: Hereditary nephropathy, including monogenic nephropathy, is an important cause of renal insufficiency and end-stage renal disease. Therefore, genetic blockade is necessary for couples with monogenic nephropathy.
Xinyu Liu +7 more
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