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Folie à Deux in the Setting of COVID-19 Quarantine
Published 2022-01-01“…The preconditions that must exist for folie à deux to develop are an intimate emotional association between the inducer and the induced and a genetic predisposition to psychosis, such as blood relations with primary relatives. …”
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642
Characterization of Zebrafish von Willebrand Factor Reveals Conservation of Domain Structure, Multimerization, and Intracellular Storage
Published 2012-01-01“…von Willebrand disease (VWD) is the most common inherited human bleeding disorder and is caused by quantitative or qualitative defects in von Willebrand factor (VWF). …”
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643
Harlequin Ichthyosis: Case Series
Published 2024-04-01“… Objective: Harlequin ichthyosis (HI) is an autosomal-recessive inherited disorder. The incidence is extremely rare and is reported to range from 1/300 000 to 1/1 000 000. …”
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644
BMP-9 mediates fibroproliferation in fibrodysplasia ossificans progressiva through TGF-β signaling
Published 2024-12-01“…Abstract Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder presenting with progressive heterotopic ossification (HO) in soft tissues. …”
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645
Predicting Disease Onset from Mutation Status Using Proband and Relative Data with Applications to Huntington's Disease
Published 2012-01-01“…Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expansion of CAG repeats in the IT15 gene. …”
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646
Thermal performance and MHD peristaltic flow of hybrid nanofluid (Au-Ta/Blood) in an asymmetric conduit with electro-osmosis and shape factor effects
Published 2025-02-01“…The current research aims to create a mathematical model for targeted drug delivery systems, applicable in areas like cancer treatment, genetic disorder therapies, and infection management. …”
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647
The impact of gut microbiome on neuro-autoimmune demyelinating diseases
Published 2024-10-01“…Genetic predisposition and environmental factors, such as alterations in the gut microbiome, influence these conditions. …”
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648
Role of HLA alleles polymorphism in systemic lupus erythematosus: A prospective study from North India
Published 2023-07-01“…Background: Systemic lupus erythematosus (SLE) is a chronic autoimmune disorder and has complex etiopathogenesis. The most appropriate hypothesis states that genetic susceptibility in the presence of environmental risk factors predisposes to SLE. …”
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649
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650
SPERM QUALITY IN RATS PREDISPOSED TO THE MANIFESTATION OF CATATONIC REACTIONS
Published 2018-07-01“…The GC (“genetic” and “catatonia”) rat strain was obtained from the Wistar rat strain by a long selection (78 generations) for the catatonic type of reaction and is a model of schizophrenic and depressive disorders in humans. …”
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651
Anomalous Coronary Artery Origin in a Young Patient with Marfan Syndrome
Published 2017-01-01“…Marfan syndrome is an autosomal dominant genetic disorder that affects connective tissue and is caused by mutations in the fibrillin 1 gene present at chromosome 15. …”
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652
Case Report: Two-month-old infant with PHACE syndrome: facial hemangioma and severe complex coarctation of the aorta
Published 2025-02-01“…BackgroundPHACE syndrome is an uncommon disorder, marked by large segmental hemangiomas on the face and various developmental anomalies. …”
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653
The Most Important Risk Factors Among Angina Patients in Thi-Qar Governorate in Iraq
Published 2021-06-01“…It may occur as an angina attack that typically lasts from 1 to 15 minutes; however, angina is not only a disorder, but is also a symptom of heart disease. …”
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654
Looking outside the box with a pathology aware AI approach for analyzing OCT retinal images in Stargardt disease
Published 2025-02-01“…Abstract Stargardt disease type 1 (STGD1) is a genetic disorder that leads to progressive vision loss, with no approved treatments currently available. …”
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655
Quality of Life in Wilson’s Disease: A Systematic Literature Review
Published 2021-12-01“…**Background:** Wilson’s disease (WD) is a rare inherited genetic disorder characterized by the progressive accumulation of copper in the brain, liver, and other major organ systems. …”
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656
46, XY Complete Gonadal Dysgenesis (Swyer Syndrome) Presenting as Primary Amenorrhea in a Normomorphic Adult Female From Kakamega, Kenya
Published 2025-01-01“…ABSTRACT Differences/disorders of sex development (DSDs) are a diverse group of congenital conditions that result in disagreement between an individual's sex chromosomes, gonads, and/or anatomical sex. …”
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657
SERPINA1 mRNA as a Treatment for Alpha-1 Antitrypsin Deficiency
Published 2018-01-01“…Alpha-1-antitrypsin (AAT) deficiency is a genetic disorder that produces inactive/defective AAT due to mutations in the SERPINA1 gene encoding AAT. …”
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658
Neurofibromatosis Type 1 Complicated by Atypical Coarctation of the Thoracic Aorta
Published 2013-01-01“…Neurofibromatosis type 1 (NF1) is a relatively common autosomal dominant genetic disorder with a prevalence of 1 in 3,000 (0.03%) at birth. …”
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659
A novel DLG4 variant causes DLG4-related synaptopathy with intellectual regression
Published 2024-01-01Get full text
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660
Monozygotic twins with myocarditis and a novel likely pathogenic desmoplakin gene variant
Published 2020-06-01“…Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart muscle disorder with increased risk for paroxysmal ventricular arrhythmias and sudden cardiac death. …”
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