Showing 161 - 180 results of 1,178 for search '"Genetic disorder', query time: 0.07s Refine Results
  1. 161

    Evaluation Of Impulsivity Symptoms And Family Functioning In Adolescents Diagnosed With Obsessive Compulsive Disorder And Their Mothers by Gonca Ozyurt

    Published 2016-08-01
    “…Further studies are needed to examine genetic and enviromental common risk factors between OCD and impulsivity [JCBPR 2016; 5(2.000): 57-64]…”
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    Article
  2. 162

    Edge-centric connectome-genetic markers of bridging factor to comorbidity between depression and anxiety by Zhiyi Chen, Yancheng Tang, Xuerong Liu, Wei Li, Yuanyuan Hu, Bowen Hu, Ting Xu, Rong Zhang, Lei Xia, Jing-Xuan Zhang, Zhibing Xiao, Ji Chen, Zhengzhi Feng, Yuan Zhou, Qinghua He, Jiang Qiu, Xu Lei, Hong Chen, Shaozheng Qin, Tingyong Feng

    Published 2024-12-01
    “…Abstract Depression-anxiety comorbidity is commonly attributed to the occurrence of specific symptoms bridging the two disorders. However, the significant heterogeneity of most bridging symptoms presents challenges for psychopathological interpretation and clinical applicability. …”
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  3. 163

    Metabolic and Genetic Determinants of Lipid Metabolism Disruption in Non-Alcoholic Fatty Liver Disease by O. Yu. Kytikova, T. P. Novgorodtseva, Yu. K. Denisenko, D. A. Kovalevsky

    Published 2020-05-01
    “…To present literature data on the metabolic and genetic mechanisms of impaired fatty acid (FA) synthesis in the development and progression of non-alcoholic fatty liver disease (NAFLD).General findings. …”
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  6. 166

    Acute Genetic Damage Induced by Ethanol and Corticosterone Seems to Modulate Hippocampal Astrocyte Signaling by Ana Laura Reyes-Ábalos, Magdalena Álvarez-Zabaleta, Silvia Olivera-Bravo, María Vittoria Di Tomaso

    Published 2024-01-01
    “…Astrocytes maintain CNS homeostasis but also critically contribute to neurological and psychiatric disorders. Such functional diversity implies an extensive signaling repertoire including extracellular vesicles (EVs) and nanotubes (NTs) that could be involved in protection or damage, as widely shown in various experimental paradigms. …”
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  7. 167

    Expression of palmitoyl transferases in brain structures of mice genetically predisposed to depressive-like behavior by E. M. Kondaurova, T. V. Ilchibaeva, A. S. Tsybko, Е. G. Ponimaskin, V. S. Naumenko

    Published 2018-08-01
    “…Obviously, malfunction of G-protein coupled receptors can cause various psychic disor­ders, including depression. However, no association between palmitoyl transferases and depressive-like behavior has been found hitherto. …”
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  8. 168

    Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders by Heonjong Han, Go Hun Seo, Seong-In Hyun, Kisang Kwon, Seung Woo Ryu, Rin Khang, Eugene Lee, JiHye Kim, Yongjun Song, Won Chan Jeong, Joohyun Han, Dong-wook Kim, Soyeon Yang, Sohyun Lee, Sohyun Jang, Jungsul Lee, Hane Lee

    Published 2025-01-01
    “…Abstract We investigated the effectiveness of exome sequencing (ES) in diagnosing ethnically diverse patients with rare genetic disorders. A total of 18,994 patients referred to a single reference laboratory for ES between 2020 and 2022 were studied for the diagnostic rate and factors influencing the diagnostic rate. …”
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  9. 169

    Thyroid disorders and inflammatory bowel disease: an association present in adults but also in children and adolescents by Valeria Calcaterra, Valeria Calcaterra, Francesca Penagini, Virginia Rossi, Luisa Abbattista, Alice Bianchi, Massimiliano Turzi, Lucia Cococcioni, Gianvincenzo Zuccotti, Gianvincenzo Zuccotti

    Published 2025-02-01
    “…A thyroid function monitoring and future research exploring the genetic and immunologic connections are essential to enhance our understanding of the interrelation between IBD and thyroid disorders.…”
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  10. 170

    Deep Vein Thrombosis and Pulmonary Embolism Secondary to Thrombophilic Disorder: A Case Report by Satbir Kaur Malik, Vineetha Naga Lakshmi Giduturi, Sindhuri Goud Nimmala, Vijayashree Gokhale

    Published 2025-02-01
    “…Iron Deficiency Anaemia (IDA) is a prevalent nutritional deficiency and a common haematological disorder characterised by low iron levels, which lead to reduced haemoglobin production, fatigue, pallor and diminished oxygen delivery. …”
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  11. 171

    DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders by Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li

    Published 2025-01-01
    “…Abstract Background This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities. …”
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  12. 172

    Neuronal cell type specific roles for Nprl2 in neurodevelopmental disorder-relevant behaviors by Brianne Dentel, Lidiette Angeles-Perez, Abigail Y. Flores, Katherine Lei, Chongyu Ren, Andrea Pineda Sanchez, Peter T. Tsai

    Published 2025-02-01
    “…Loss of function in the subunits of the GTPase-activating protein (GAP) activity toward Rags-1 (GATOR1) complex, an amino-acid sensitive negative regulator of the mechanistic target of rapamycin complex 1 (mTORC1), is implicated in both genetic familial epilepsies and Neurodevelopmental Disorders (NDDs) (Baldassari et al., 2018). …”
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    Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder by Marina Laplana, José Luis Royo, Anton Aluja, Ricard López, Damiàn Heine-Sunyer, Joan Fibla

    Published 2014-01-01
    “…Autism spectrum disorder (ASD) is a highly heritable disease (~0.9) with a complex genetic etiology. …”
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  18. 178

    A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia by Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman

    Published 2023-01-01
    “…This case highlights a rare genetic finding and the need for timely genetic testing in a child with dysmorphism and autism with movement disorder to enable appropriate management and genetic counselling.…”
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  19. 179

    Social behavior and spatial orientation in rat strains with genetic predisposition to catatonia (GC) and stereotypes (PM) by V. S. Plekanchuk, O. I. Prokudina, M. A. Ryazanova

    Published 2022-06-01
    “…Various psychopathologies, including schizophrenia, bipolar disorder and major depression, are associated with abnormalities in social behavior and learning. …”
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  20. 180

    Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations by Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI

    Published 2022-06-01
    “…Objective: Ichthyosis is a clinically heterogeneous group of genodermatoses characterized by widespread drying and scaling of the skin. It is also a genetically heterogeneous disorder, and 67 genes associated with the disease have been identified to date. …”
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