Showing 621 - 640 results of 1,178 for search '"Genetic disorder', query time: 0.07s Refine Results
  1. 621

    Development of a Semiconductor Sequencing-based Panel for Screening Individuals with Lynch Syndrome by Ryia-Illani Mohd Yunos, Nurul-Syakima Ab Mutalib, Janice Khor Sheau Sean, Sazuita Saidin, Mohd Ridhwan Abd Razak, Isa Md. Rose, Ismail Sagap, Luqman Mazlan, Rahman Jamal

    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. …”
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    Article
  2. 622

    Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases by Virang Kumar, Natario L. Couser, Arti Pandya

    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. …”
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    Article
  3. 623

    The Effects of Early-Life Predator Stress on Anxiety- and Depression-Like Behaviors of Adult Rats by Lu-jing Chen, Bing-qing Shen, Dan-dan Liu, Sheng-tian Li

    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. …”
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    Article
  4. 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 by Tanner R. Henrie, John G. Skedros

    Published 2018-01-01
    “…Sarcoidosis is an idiopathic systemic inflammatory disorder characterized histologically by noncaseating granulomas. …”
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    Article
  5. 625

    The Construction of Regulatory Network for Insulin-Mediated Genes by Integrating Methods Based on Transcription Factor Binding Motifs and Gene Expression Variations by Hyeim Jung, Seonggyun Han, Sangsoo Kim

    Published 2015-09-01
    “…Type 2 diabetes mellitus is a complex metabolic disorder associated with multiple genetic, developmental and environmental factors. …”
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    Article
  6. 626

    Wilson’s Disease: Diagnosis of Wilson’s Disease in Ethiopian Young Sisters by Nebiyu Bekele, Frew Ewnetu, Tigest Hailu, Zerubabel Tegegne, Abilo Tadesse

    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. …”
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    Article
  7. 627

    Challenges Faced by Nurses in Transitioning Pediatric Sickle Cell Disease Patients to Adult Care by Gifty Enyonam Amoaku, Delali Adwoa Wuaku, Vivian Efua Senoo-Dogbey

    Published 2025-02-01
    “…Background Sickle-cell disease is a common genetic red blood cell disorder with global concern. …”
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    Article
  8. 628

    A Link between Autophagy and the Pathophysiology of LRRK2 in Parkinson's Disease by Patricia Gómez-Suaga, Elena Fdez, Marian Blanca Ramírez, Sabine Hilfiker

    Published 2012-01-01
    “…Parkinson's disease is a debilitating neurodegenerative disorder, and its molecular etiopathogenesis remains poorly understood. …”
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    Article
  9. 629
  10. 630

    Biventricular Noncompaction Cardiomyopathy in a Patient Presenting with New Onset Seizure: Case Report by Oghenerukevwe Odiete, Ramanna Nagendra, Mark A. Lawson, Henry Okafor

    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. …”
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    Article
  11. 631

    Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease by Elisa Rubino, Maria Italia, Elisa Giorgio, Silvia Boschi, Paola Dimartino, Tommaso Pippucci, Fausto Roveta, Clara Maria Cambria, Gabriella Elia, Andrea Marcinnò, Salvatore Gallone, Ekaterina Rogaeva, Flavia Antonucci, Alfredo Brusco, Fabrizio Gardoni, Innocenzo Rainero

    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. …”
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    Article
  12. 632

    DNA Methyltransferase 3B Gene Promoter and Interleukin-1 Receptor Antagonist Polymorphisms in Childhood Immune Thrombocytopenia by Margarita Pesmatzoglou, Marilena Lourou, George N. Goulielmos, Eftichia Stiakaki

    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. …”
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    Article
  13. 633

    Disparities in the Diagnosis of Hypertrophic Obstructive Cardiomyopathy: A Narrative Review of Current Literature by Joseph Burns, Philippe Jean-Pierre

    Published 2018-01-01
    “…Hypertrophic obstructive cardiomyopathy (HOCM) is a disorder of abnormal thickening of the myocardium that affects 0.2% of the population. …”
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    Article
  14. 634

    Gene Polymorphisms and Susceptibility to Functional Dyspepsia: A Systematic Review and Meta-Analysis by Lijun Du, John J. Kim, Binrui Chen, Yawen Zhang, Hui Ren

    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. …”
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    Article
  15. 635

    The Role of the Liver in the Pathophysiology of PCOS: A Literature Review by Abrar Alhermi, Heather Perks, Varsha Nigi, Noor Altahoo, Stephen L. Atkin, Alexandra E. Butler

    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. …”
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    Article
  16. 636
  17. 637

    siRNA therapeutics for effective management of rheumatoid arthritis by Vishakha R. Chakole, Tathagata Dutta, Priyankar Sen

    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. …”
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    Article
  18. 638

    Breed differences in olfactory performance of dogs by Attila Salamon, Ádám Miklósi, László Róbert Zsiros, Tímea Kovács, Enikő Kubinyi, Attila Andics, Márta Gácsi

    Published 2025-01-01
    “…Activity/Excitability scores, attention-deficit/hyperactivity disorder scores, and owners’ rewarding style were not associated with performance. …”
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    Article
  19. 639

    Association of COMT Val158Met Polymorphism with Fibromyalgia in Khartoum State, Sudan by Safaa Mamoun Abdelmageid, Faisal Mousa Alamir, Hassan Yousif Abdelrahman, Hind Mohamed Abushama

    Published 2023-01-01
    “…Fibromyalgia (FM) is a disorder characterized by chronic musculoskeletal pain, fatigue, and cognitive problems. …”
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  20. 640

    The OAuth 2.0 Web Authorization Protocol for the Internet Addiction Bioinformatics (IABio) Database by Jeongseok Choi, Jaekwon Kim, Dong Kyun Lee, Kwang Soo Jang, Dai-Jin Kim, In Young Choi

    Published 2016-03-01
    “…Moreover, internet gaming disorder leads to increases in social expenditures for both individuals and nations alike. …”
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