Showing 761 - 780 results of 1,178 for search '"Genetic disorder', query time: 0.06s Refine Results
  1. 761

    Challenges of Analysing Gene-Environment Interactions in Mouse Models of Schizophrenia by Peter L. Oliver

    Published 2011-01-01
    “…The modelling of neuropsychiatric disease using the mouse has provided a wealth of information regarding the relationship between specific genetic lesions and behavioural endophenotypes. However, it is becoming increasingly apparent that synergy between genetic and nongenetic factors is a key feature of these disorders that must also be taken into account. …”
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  2. 762
  3. 763

    Red flags to suspect inborn errors of immunity in patients with autoimmune diseases by Natalia Vélez, Juliette De Ávila, Jaime Cortés, Nelson Barrero, Leosirlay Rojas, Juan Manuel Bello, Consuelo Romero-Sánchez

    Published 2024-12-01
    “…An early diagnosis of a monogenic disorder allows for the tailoring of effective treatment plans, providing prognostic information to families, and offering genetic counseling.…”
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  4. 764

    Rozwój genetyki i nauk żywieniowych a działania na rzecz zachowania zdrowia by Grażyna Nowicka

    Published 2005-12-01
    “…Nutrition is a factor of major importance for health and also for development of diet related disorders. Nowadays there is no doubts that interaction between genes and nutrition plays a key role in health risk prediction and disease prevention. …”
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  5. 765

    Advances in the etiopathogenesis of vitiligo by Thomas Mathew, Sachin Vaidya

    Published 2024-12-01
    “…Vitiligo is a disorder that causes depigmentation of the skin and can impact an individual’s quality of life, especially in those with darker skin types due to the contrasting nature. …”
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  6. 766
  7. 767

    A Case of Carbamazepine-Induced Aggravation of Self-Limited Epilepsy with Centrotemporal Spikes Epilepsy and Valproate-Induced Hyperammonemic Encephalopathy in a Child with Heteroz... by Imalke Kankananarachchi, Eresha Jasinge, Gemunu Hewawitharana

    Published 2021-01-01
    “…Tandem mass spectrometry did not show significant abnormality in the amino acid profile. Specific genetic analysis revealed a c.2756 C > T.p (Ser919Leu) heterozygote genetic mutation of the CSP 1 gene. …”
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  8. 768

    Duchenne muscular dystrophy: recent insights in brain related comorbidities by Cyrille Vaillend, Yoshitsugu Aoki, Eugenio Mercuri, Jos Hendriksen, Konstantina Tetorou, Aurelie Goyenvalle, Francesco Muntoni

    Published 2025-02-01
    “…This suggests that future genetic therapies could address both muscle and brain dysfunction in DMD patients.…”
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  9. 769

    Genotoxicity Biomarkers Study in Agricultural Workers Exposed to Pesticides: a Systematic Review by Edisson Vladimir Maldonado Mariño, Darío Orlando Siza Saquinga, Diego Eduardo Guato Canchinia, Alexander Javier Ramos Velastegui

    Published 2024-11-01
    “…Genotoxicity biomarkers are an effective tool to assess the impact of pesticides on genetic material. A literature review was conducted to gain insight into genotoxicity biomarkers in South American agricultural workers exposed to pesticides. …”
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  10. 770
  11. 771

    Alagille Syndrome and Wilson Disease in Siblings: A Diagnostic Conundrum by Meghan Amson, Esther Lamoureux, Nir Hilzenrat, Marc Tischkowitz

    Published 2012-01-01
    “…Further hepatic investigations and genetic mutation analysis were performed, ultimately leading to a diagnosis of Alagille syndrome. …”
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  12. 772

    A rare deleterious missense mutation in the AXIN2 gene in Chinese women with polycystic ovary syndrome by Ying Zhang, Yu Chen, Fa-Ying Liu, Jing-Wen Fu, Xian-Xian Liu, Jun Tan, Ou-Ping Huang, Yang Zou

    Published 2025-12-01
    “…The causative factors of PCOS are complex, and genetic structure remains a long-standing medical challenge in genetics. …”
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  13. 773

    Novel Role of Pin1-Cis P-Tau-ApoE Axis in the Pathogenesis of Preeclampsia and Its Connection with Dementia by Emmanuel Amabebe, Zheping Huang, Sukanta Jash, Balaji Krishnan, Shibin Cheng, Akitoshi Nakashima, Yitong Li, Zhixong Li, Ruizhi Wang, Ramkumar Menon, Xiao Zhen Zhou, Kun Ping Lu, Surendra Sharma

    Published 2024-12-01
    “…This review will also cover genetic polymorphisms in the ApoE alleles leading to dyslipidemia induction that may regulate the pathways causing preE or dementia-like features in the reproductive age or later in life, respectively.…”
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  14. 774

    Isolation of Intact Mitochondria From Drosophila melanogaster and Assessment of Mitochondrial Respiratory Capacity Using Seahorse Analyzer by Christopher Groen, Anthony Windebank

    Published 2025-02-01
    “…The rapid biochemical assessment of mitochondria, in combination with the utility of Drosophila as an in vivo genetic model system, offers great potential for researchers to probe the impact of genetics and pharmacologic interventions on mitochondrial respiratory capacity.…”
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  15. 775
  16. 776

    Adult-onset Still's disease: A great masquerader triggered by hepatitis A infection by Jhasaketan Meher, Keshao B Nagpure, Md Sabah Siddiqui, A M Vishnu Dev

    Published 2020-01-01
    “…Various infectious triggers in a genetically susceptible host have been described in literature. …”
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  17. 777

    Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN by Jovita Patricija Druta, Gunda Petraitytė, Aušra Sasnauskienė, Eglė Preikšaitienė

    Published 2024-12-01
    “…Progerias are rare hereditary genetic disorders that cause the onset of aging to occur earlier than generally expected, which initiates the progression of many age-related diseases. …”
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  18. 778

    Oral Manifestations of Crohn’s Disease: A Case Report and Review of the Literature by Victoria L. Woo

    Published 2015-01-01
    “…Crohn’s disease (CD) is an inflammatory disorder of the gastrointestinal tract that is likely caused by an inappropriate mucosal inflammatory response to intestinal bacteria in a genetically predisposed host. …”
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  19. 779

    Celiac Disease Assocaited with Primary Biliary Cirrhosis in a Coast Salish Native by Hugh J Freeman

    Published 1994-01-01
    “…These patients are the first reported natives in Canada with celiac disease, a disorder believed to be genetically based but dependent on environmental factors for its clinical expression. …”
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  20. 780

    Canine circovirus: an emerging virus of dogs and wild canids by Farzad Beikpour, Arash Letafati, Zahra Ahmadi Fakhr, Nicoal Decaro, Sayed-Hamidreza Mozhgani

    Published 2025-02-01
    “…Belonging to the Circoviridae family, CanineCV exhibits genetic variability and has been associated with various clinical manifestations, including gastroenteritis, respiratory symptoms, and neurological disorders. …”
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