-
621
Development of a Semiconductor Sequencing-based Panel for Screening Individuals with Lynch Syndrome
Published 2022-07-01“… Lynch syndrome is a genetic disorder associated with mutations in mismatch repair (MMR) genes that are linked to the development of colorectal cancer. …”
Get full text
Article -
622
Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases
Published 2020-01-01“…Oculodentodigital dysplasia (ODDD) is a rare genetic disorder associated with a characteristic craniofacial profile with variable dental, limb, eye, and ocular adnexa abnormalities. …”
Get full text
Article -
623
The Effects of Early-Life Predator Stress on Anxiety- and Depression-Like Behaviors of Adult Rats
Published 2014-01-01“…Childhood emotional trauma contributes significantly to certain psychopathologies, such as post-traumatic stress disorder. In experimental animals, however, whether or not early-life stress results in behavioral abnormalities in adult animals still remains controversial. …”
Get full text
Article -
624
Sarcoid of the Upper Humerus Found Incidentally on MR Images Obtained for Work-Up of Rotator Cuff Tear Where Compromised Tissue Quality Was a Concern for Surgical Success
Published 2018-01-01“…Sarcoidosis is an idiopathic systemic inflammatory disorder characterized histologically by noncaseating granulomas. …”
Get full text
Article -
625
The Construction of Regulatory Network for Insulin-Mediated Genes by Integrating Methods Based on Transcription Factor Binding Motifs and Gene Expression Variations
Published 2015-09-01“…Type 2 diabetes mellitus is a complex metabolic disorder associated with multiple genetic, developmental and environmental factors. …”
Get full text
Article -
626
Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters
Published 2020-01-01“…Wilson’s disease is an inherited autosomal recessive disorder of copper metabolism. Clinical signs, biochemical parameters, histologic findings, and/or ATP7B genetic testing are required to diagnose Wilson’s disease. …”
Get full text
Article -
627
Challenges Faced by Nurses in Transitioning Pediatric Sickle Cell Disease Patients to Adult Care
Published 2025-02-01“…Background Sickle-cell disease is a common genetic red blood cell disorder with global concern. …”
Get full text
Article -
628
A Link between Autophagy and the Pathophysiology of LRRK2 in Parkinson's Disease
Published 2012-01-01“…Parkinson's disease is a debilitating neurodegenerative disorder, and its molecular etiopathogenesis remains poorly understood. …”
Get full text
Article -
629
Effect of Recombinant Human Growth Hormone Treatment in a Patient with Short Stature Associated with the Ring Chromosome 17 Syndrome
Published 2023-01-01“…Ring chromosome 17 syndrome is a rare hereditary disorder whose prevalence is less than 1 : 1.000.000. …”
Get full text
Article -
630
Biventricular Noncompaction Cardiomyopathy in a Patient Presenting with New Onset Seizure: Case Report
Published 2012-01-01“…Ventricular noncompaction (VNC) of the myocardium is a rare genetic cardiomyopathy caused by a disorder during endocardial morphogenesis and could be accompanied by life-threatening complications. …”
Get full text
Article -
631
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease
Published 2025-01-01“…Abstract Background Alzheimer's disease (AD) is a progressive neurodegenerative disorder with both genetic and environmental factors contributing to its pathogenesis. …”
Get full text
Article -
632
DNA Methyltransferase 3B Gene Promoter and Interleukin-1 Receptor Antagonist Polymorphisms in Childhood Immune Thrombocytopenia
Published 2012-01-01“…Primary immune thrombocytopenia (ITP) is one of the most common blood diseases as well as the commonest acquired bleeding disorder in childhood. Although the etiology of ITP is unclear, in the pathogenesis of the disease, both environmental and genetic factors including polymorphisms of TNF-a, IL-10, and IL-4 genes have been suggested to be involved. …”
Get full text
Article -
633
Disparities in the Diagnosis of Hypertrophic Obstructive Cardiomyopathy: A Narrative Review of Current Literature
Published 2018-01-01“…Hypertrophic obstructive cardiomyopathy (HOCM) is a disorder of abnormal thickening of the myocardium that affects 0.2% of the population. …”
Get full text
Article -
634
Gene Polymorphisms and Susceptibility to Functional Dyspepsia: A Systematic Review and Meta-Analysis
Published 2019-01-01“…Functional dyspepsia (FD) is a common chronic gastrointestinal disorder with a complex, undefined mechanism. Clustering of patients with FD in families highlights the role of genetic factors in the pathogenesis of FD. …”
Get full text
Article -
635
The Role of the Liver in the Pathophysiology of PCOS: A Literature Review
Published 2025-01-01“…The purpose of this review is to discuss the current understanding regarding hepatic involvement in PCOS pathophysiology, the inflammatory markers and hepatokines involved in the development of PCOS, and the role of genetics in the occurrence of PCOS. This review illustrates that PCOS and NAFLD are both common disorders and that there is both genetic and metabolic linkage between the disorders. …”
Get full text
Article -
636
Assessment of Hair Aluminum, Lead, and Mercury in a Sample of Autistic Egyptian Children: Environmental Risk Factors of Heavy Metals in Autism
Published 2015-01-01“…The etiological factors involved in the etiology of autism remain elusive and controversial, but both genetic and environmental factors have been implicated. …”
Get full text
Article -
637
siRNA therapeutics for effective management of rheumatoid arthritis
Published 2025-01-01“…This property makes siRNA a valuable tool for developing RNAi therapeutics, particularly for managing conditions like osteoporosis, cancer, genetic disorders, and autoimmune disorders. Rheumatoid arthritis (RA) is a significant autoimmune disorder. …”
Get full text
Article -
638
Breed differences in olfactory performance of dogs
Published 2025-01-01“…Activity/Excitability scores, attention-deficit/hyperactivity disorder scores, and owners’ rewarding style were not associated with performance. …”
Get full text
Article -
639
Association of COMT Val158Met Polymorphism with Fibromyalgia in Khartoum State, Sudan
Published 2023-01-01“…Fibromyalgia (FM) is a disorder characterized by chronic musculoskeletal pain, fatigue, and cognitive problems. …”
Get full text
Article -
640
The OAuth 2.0 Web Authorization Protocol for the Internet Addiction Bioinformatics (IABio) Database
Published 2016-03-01“…Moreover, internet gaming disorder leads to increases in social expenditures for both individuals and nations alike. …”
Get full text
Article