Showing 81 - 100 results of 1,178 for search '"Genetic disorder', query time: 0.09s Refine Results
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    Value of medical genetic consultation at digestive organs diseases by T. V. Filippova

    Published 2014-07-01
    “…Detection of disorders of functioning of various genes and duly medical genetic consultation allow to carry out early diagnostics, choose optimum mode of treatment and prevent diseases of GIT.…”
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    Article
  3. 83
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    Modern classification and molecular-genetic aspects of osteogenesis imperfecta by A. R. Zaripova, R. I. Khusainova

    Published 2020-04-01
    “…It is based on genetic disorders leading to a violation of the structure of bone tissue, which leads to frequent fractures, impaired growth and posture, with the development of characteristic disabling bone deformities and associated problems, including respiratory, neurological, cardiac, renal impairment, hearing loss. …”
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    Article
  5. 85

    Molecular Mechanisms Regulating Hepcidin Revealed by Hepcidin Disorders by Clara Camaschella, Laura Silvestri

    Published 2011-01-01
    “…Disruption of these regulatory loops leads to genetic diseases characterized by iron deficiency (iron-refractory iron-deficiency anemia) or iron overload (hemochromatosis). …”
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    Article
  6. 86

    Social Experience-Dependent Myelination: An Implication for Psychiatric Disorders by Michihiro Toritsuka, Manabu Makinodan, Toshifumi Kishimoto

    Published 2015-01-01
    “…It has been shown that myelin formation depends on genetic programing and experience, including multiple factors, intracellular and extracellular molecules, and neuronal activities. …”
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    Article
  7. 87

    Unraveling the genetic spectrum of inherited deaf-blindness in Portugal by Telma Machado, Telmo Cortinhal, Ana Luísa Carvalho, Francisco Teixeira-Marques, Rufino Silva, Joaquim Murta, João Pedro Marques

    Published 2025-01-01
    “…Abstract Background Syndromic genetic disorders affecting vision can also cause hearing loss, and Usher syndrome is by far the most common etiology. …”
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    Article
  8. 88

    Bipolar Disorder and Multiple Sclerosis: A Case Series by Youssef Sidhom, Mouna Ben Djebara, Yosr Hizem, Istabrak Abdelkefi, Imen Kacem, Amina Gargouri, Riadh Gouider

    Published 2014-01-01
    “…We report three cases of MS and bipolar disorder and we discuss the possible etiological hypothesis and treatment options. …”
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    Article
  9. 89

    Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives by Marco A. Luís, Marcelo A. D. Goes, Fátima Milhano Santos, Joana Mesquita, Paulo Tavares-Ratado, Cândida Teixeira Tomaz

    Published 2025-01-01
    “…While some disease-altering treatments offer relief and slow the progression of certain conditions, the majority of monogenic disorders still lack effective therapies. In recent years, gene therapy has appeared as a promising approach for addressing genetic disorders. …”
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    Article
  10. 90

    It is time to tackle psychological determinants of obesity and eating disorders by Pietro Crescenzo

    Published 2019-03-01
    “…Obesity is a complex condition associated with many medical disorders as well as with psychological and emotional issues, as obese individuals are at high risk of developing psychiatric disorder [8] and given that etiological basis of eating disorders and obesity usually lies in some combination of psychosocial, environmental, and genetic or biological aspects, which often focus on body image problems. …”
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    The Molecular Genetics and Cellular Mechanisms Underlying Pulmonary Arterial Hypertension by Rajiv D. Machado

    Published 2012-01-01
    “…In this paper, the molecular genetic basis of the disorder is discussed in detail ranging from the original identification of the major genetic contributant to PAH and moving on to current next-generation technologies that have led to the rapid identification of additional genetic risk factors. …”
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  15. 95

    Current Evidence and Insights about Genetics in Thoracic Aorta Disease by Gianluigi Bisleri, Lorenzo Bagozzi, Claudio Muneretto

    Published 2013-01-01
    “…However, during the past decade, there has been increasing evidence that almost 20% of thoracic aortic aneurysms may be associated with a genetic disease, often within a syndromic or familial disorder. …”
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    Article
  16. 96

    Genetics of Inflammatory Bowel Disease: Current Understanding and Future Directions by P. K. Chandra Sekar, R. Veerabathiran

    Published 2024-12-01
    “…IBD is a complex gastrointestinal disorder influenced by a combination of genetic and environmental factors. …”
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    Article
  17. 97

    CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects by Julianna Podolec, Silvia Ciraolo, Joanna Wojda, Adam Sobiński, Zuzanna Kościuszko, Katarzyna Kurza, Agnieszka Kulczycka-Rowicka, Matylda Czerwonka, Katarzyna Lesiczka-Fedoryj, Anna Walczak

    Published 2025-02-01
    “…The methodology includes a collection and synthesis of clinical data, imaging findings, and genetic analyses from published case studies and medical literature. …”
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    Article
  18. 98

    Unraveling the genetic mysteries of spinal muscular atrophy in Chinese families by Shanshan Gao, Duo Chen, Qianqian Li, Xuechao Zhao, Chen Chen, Lina Liu, Miao Jiang, Zhenhua Zhao, Yanhua Wang, Xiangdong Kong

    Published 2025-01-01
    “…Understanding its genetic basis is crucial for genetic counseling and personalized treatment options. …”
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    Article
  19. 99

    Perinatal Management for a Pregnant Woman with an MYH9 Disorder by Yuka Yamashita, Rei Matsuura, Shinji Kunishima, Yoshie Oikawa, Hirotsugu Ariizumi, Shoko Hamada, Nahoko Shirato, Ryu Matsuoka, Kohichi Ogawa, Akihiko Sekizawa

    Published 2016-01-01
    “…We diagnosed a primipara woman with an MYH9 disorder during her pregnancy. A peripheral blood smear with an immunofluorescence analysis is the established method of diagnosing MYH9 disorders. …”
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  20. 100

    Development of RNA interference-based therapy for rare genetic diseases by Milya Urfa Ahmad, Syarifah Dewi

    Published 2024-08-01
    “…Despite these obstacles, RNAi-based therapy holds significant potential for revolutionize the treatment of genetic disorders. …”
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    Article