Showing 101 - 120 results of 1,178 for search '"Genetic disorder', query time: 0.06s Refine Results
  1. 101

    Interaction between 𝛼-Synuclein and Other Proteins in Neurodegenerative Disorders by Kurt A. Jellinger

    Published 2011-01-01
    “…Protein aggregation is a common characteristic of many neurodegenerative disorders, and the interaction between pathological/toxic proteins to cause neurodegeneration is a hot topic of current neuroscience research. …”
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    Article
  2. 102

    Effects of selection and mutation on epidemiology of X-linked genetic diseases by Francesca Verrilli, Hamed Kebriaei, Luigi Glielmo, Martin Corless, Carmen Del Vecchio

    Published 2017-05-01
    “…The epidemiology of X-linked recessive diseases, a class of genetic disorders, is modeled with a discrete-time, structured, non linear mathematical system. …”
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    Article
  3. 103

    Optimality and stability of symmetric evolutionary games with applications in genetic selection by Yuanyuan Huang, Yiping Hao, Min Wang, Wen Zhou, Zhijun Wu

    Published 2014-12-01
    “…We demonstrate how these conditions can be applied to justifying the strategies and their stabilities for a special class of genetic selection games including some in the study of genetic disorders.…”
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    Article
  4. 104

    Pituitary adenoma: important genetic factors and clinical diagnostic issues by G. Juknytė, E. Karinauskė, R. Liutkevičienė

    Published 2021-06-01
    “…Therefore, in this article, we review the genetic issues of pituitary adenoma. …”
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    Article
  5. 105

    Genomic exploration of pediatric neurological disorders: a case series by Naresh Tayade, Gautham Manoj, Akshay Kewat, Anjali Krishna A, Rajiv Devulapalli, Somesh Kumar, Sunil Kumar Polipalli, Bipin G. Nair, Obul Reddy Bandapalli, Prashanth Suravajhala

    Published 2025-01-01
    “…Abstract Background Pediatric neurological disorders include neurodegenerative diseases causing cognitive impairment and vision loss. …”
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    Article
  6. 106

    Mechanisms of bacterial-to-host interaction and their disorders at inflammatory bowel diseases by Ye. A. Poluektova, O. S. Lyashenko, A. V. Korolev, O. S. Shifrin, V. T. Ivashkin

    Published 2014-11-01
    “…To discuss modern concepts on interaction of bacterial cells with human body, and disorders of micro-and macroorganism interaction at inflammatory bowel diseases (IBD).Summary. …”
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  7. 107

    Sex differences in borderline personality disorder: A scoping review. by Xinyu Qian, Michelle L Townsend, Wan Jie Tan, Brin F S Grenyer

    Published 2022-01-01
    “…Borderline Personality Disorder (BPD) is often perceived to be a female-predominant disorder in both research and clinical contexts. …”
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    Article
  8. 108

    Proteostasis and Mitochondrial Role on Psychiatric and Neurodegenerative Disorders: Current Perspectives by Pablo Olivero, Carlo Lozano, Ramón Sotomayor-Zárate, Nicolás Meza-Concha, Marcelo Arancibia, Claudio Córdova, Wilfredo González-Arriagada, Ricardo Ramírez-Barrantes, Ivanny Marchant

    Published 2018-01-01
    “…Thereby, altered mitochondrial functions on regulatory modulation of dendritic development, neuroinflammation, and respiratory function may underlie the development of some psychiatric conditions, such as schizophrenia, being influenced by a genetic background. It is expected that with the increasing evidence about proteostasis in neuropsychiatric disorders, new therapeutic alternatives will emerge.…”
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  9. 109
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  12. 112

    Profile of Skin Disorders in Unreached Hilly Areas of North India by Deepak Dimri, Venkatashiva Reddy B, Amit Kumar Singh

    Published 2016-01-01
    “…Overall the infections of the skin and subcutaneous tissue were the most common (32.6%) followed by the disorders of skin appendages (19.8%), and dermatitis and eczema (18.8%). …”
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  13. 113
  14. 114

    Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy by Hooi Ling Teoh, Kate Carey, Hugo Sampaio, David Mowat, Tony Roscioli, Michelle Farrar

    Published 2017-01-01
    “…In turn, improved genetic technology and subsequent gene identification have enabled further insights into the mechanisms of motor neuron degeneration and how these diseases form part of a neurodegenerative disorder spectrum. …”
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    Article
  15. 115

    Circadian Rhythm Disturbances in Mood Disorders: Insights into the Role of the Suprachiasmatic Nucleus by Chelsea A. Vadnie, Colleen A. McClung

    Published 2017-01-01
    “…Circadian rhythm disturbances are a common symptom among individuals with mood disorders. The suprachiasmatic nucleus (SCN), in the ventral part of the anterior hypothalamus, orchestrates physiological and behavioral circadian rhythms. …”
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  16. 116

    Single Photon Emission Tomography Imaging in Parkinsonian Disorders: A Review by Paul D. Acton, P. David Mozley

    Published 2000-01-01
    “…Parkinsonian symptoms are associated with a number of neurodegenerative disorders, such as Parkinson’s disease, multiple system atrophy and progressive supranuclear palsy. …”
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  17. 117

    Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach by Swati Chaturvedi, Ashok K. Singh, Amit K. Keshari, Siddhartha Maity, Srimanta Sarkar, Sudipta Saha

    Published 2016-01-01
    “…To sum up the causal factors of almost all the MED-associated disorders, we decided to embark on a less traveled but nonetheless relevant direction, by focusing our attention on associated gene family products, regulation of their expression, genetic mutation, and mutation types. …”
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  18. 118

    New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications by Eva Sticova, Milan Jirsa, Joanna Pawłowska

    Published 2018-01-01
    “…Hereditary cholestasis is a heterogeneous group of rare autosomal recessive liver disorders, which are characterised by intrahepatic cholestasis, pruritus, and jaundice and caused by defects in genes related to the secretion and transport of bile salts and lipids. …”
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  19. 119

    Optic neuritis: relation between inflammatory genetic markers and occurrence of the disease by V. Punytė, R. Liutkevičienė

    Published 2019-09-01
    “…Thanks to recent advances in the field of genetics, it is possible to identify an increasing number of genes that could be associated with ON pathogenesis. …”
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  20. 120

    Identification and analysis of individuals who deviate from their genetically-predicted phenotype. by Gareth Hawkes, Loic Yengo, Sailaja Vedantam, Eirini Marouli, Robin N Beaumont, GIANT Consortium, Jessica Tyrrell, Michael N Weedon, Joel Hirschhorn, Timothy M Frayling, Andrew R Wood

    Published 2023-09-01
    “…We first applied our methods to standing height: our primary analysis classified 244 individuals (0.15%) as misaligned to their genetically predicted height. We show that these individuals are enriched for self-reporting being shorter or taller than average at age 10, diagnosed congenital malformations, and rare loss-of-function variants in genes previously catalogued as causal for growth disorders. …”
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