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Journal Abstract Search

173 related items for PubMed ID: 38014320

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  • 2. A mouse model of Zhu-Tokita-Takenouchi-Kim syndrome reveals indispensable SON functions in organ development and hematopoiesis.
    Vukadin L, Park B, Mohamed M, Li H, Elkholy A, Torrelli-Diljohn A, Kim JH, Jeong K, Murphy JM, Harvey CA, Dunlap S, Gehrs L, Lee H, Kim HG, Sah JP, Lee SN, Stanford D, Barrington RA, Foote JB, Sorace AG, Welner RS, Hildreth BE, Lim SS, Ahn EE.
    JCI Insight; 2024 Mar 08; 9(5):. PubMed ID: 38290089
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  • 3. Knockdown of Son, a mouse homologue of the ZTTK syndrome gene, causes neuronal migration defects and dendritic spine abnormalities.
    Ueda M, Matsuki T, Fukada M, Eda S, Toya A, Iio A, Tabata H, Nakayama A.
    Mol Brain; 2020 May 24; 13(1):80. PubMed ID: 32448361
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  • 4. The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review.
    Pietrobattista A, Della Volpe L, Francalanci P, Figà Talamanca L, Monti L, Lepri FR, Basso MS, Liccardo D, Della Corte C, Mosca A, Alterio T, Veraldi S, Callea F, Novelli A, Maggiore G.
    Genes (Basel); 2023 Mar 17; 14(3):. PubMed ID: 36981010
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  • 8. Establishing the phenotypic spectrum of ZTTK syndrome by analysis of 52 individuals with variants in SON.
    Dingemans AJM, Truijen KMG, Kim JH, Alaçam Z, Faivre L, Collins KM, Gerkes EH, van Haelst M, van de Laar IMBH, Lindstrom K, Nizon M, Pauling J, Heropolitańska-Pliszka E, Plomp AS, Racine C, Sachdev R, Sinnema M, Skranes J, Veenstra-Knol HE, Verberne EA, Vulto-van Silfhout AT, Wilsterman MEF, Ahn EE, de Vries BBA, Vissers LELM.
    Eur J Hum Genet; 2022 Mar 17; 30(3):271-281. PubMed ID: 34521999
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  • 9. Case report: A novel SON mutation in a Colombian patient with ZTTK syndrome.
    Vasquez-Forero DM, Masotto B, Ferrer-Avargues R, Moya CM, Pachajoa H.
    Front Genet; 2023 Mar 17; 14():1183362. PubMed ID: 37476413
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  • 11. Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series.
    El-Said A, Morales JL, Rossi G, Longani N.
    Neurol Genet; 2023 Jun 17; 9(3):e200072. PubMed ID: 37168776
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  • 14. Recurrent myocardial injury in a de novo SON mutation ZTTK syndrome patient: a case report.
    Na J, Cui L, Zhen Z, Chen X, Li Q, Gao L, Yuan Y.
    BMC Pediatr; 2024 Apr 02; 24(1):232. PubMed ID: 38566089
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  • 16. Anesthesia of the Patient with Zhu-Tokita-Takenouchi-Kim (ZTTK) Syndrome: A Case Report.
    Hudec J, Kosinova M.
    Children (Basel); 2022 Jun 11; 9(6):. PubMed ID: 35740806
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  • 17. [Clinical and genetic analysis of a child with ZTTK syndrome due to heterozygous variant of SON gene].
    Xin H, Zhao J, Lyu Y, Yang Y, Li Z, Gai Z, Liu Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Mar 10; 39(3):316-320. PubMed ID: 35315044
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  • 20. Clinical and genetic analysis of ZTTK syndrome caused by SON heterozygous mutation c.394C>T.
    Yang Y, Xu L, Yu Z, Huang H, Yang L.
    Mol Genet Genomic Med; 2019 Nov 10; 7(11):e953. PubMed ID: 31557424
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