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Journal Abstract Search

429 related items for PubMed ID: 32705777

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  • 3. A novel frameshift variant in SON causes Zhu-Tokita-Takenouchi-Kim Syndrome.
    Tan Y, Duan L, Yang K, Liu Q, Wang J, Dong Z, Li Z, He Y, Yan Y, Lin L.
    J Clin Lab Anal; 2020 Aug; 34(8):e23326. PubMed ID: 32291808
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  • 4. Expanding the mutational spectrum of ZTTK syndrome: A de novo variant with global developmental delay and malnutrition in a Chinese patient.
    Tang S, You J, Liu L, Ouyang H, Jiang N, Duan J, Li C, Luo Y, Zhang W, Zhan M, Liu C, Lyu GZ, Zhang VW, Zhao H.
    Mol Genet Genomic Med; 2023 Aug; 11(8):e2188. PubMed ID: 37488749
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  • 5. A novel de novo frameshift variation in the SON gene causing severe global developmental delay and seizures in a Chinese female.
    Yi Z, Song Z, Li F, Yang C, Xue J, Li L, Zhang M, Zhang Y.
    Int J Dev Neurosci; 2022 May; 82(3):271-276. PubMed ID: 35080253
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  • 6. ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
    Kushary ST, Revah-Politi A, Barua S, Ganapathi M, Accogli A, Aggarwal V, Brunetti-Pierri N, Cappuccio G, Capra V, Fagerberg CR, Gazdagh G, Guzman E, Hadonou M, Harrison V, Havelund K, Iancu D, Kraus A, Lippa NC, Mansukhani M, McBrian D, McEntagart M, Pacio-Míguez M, Palomares-Bralo M, Pottinger C, Ruivenkamp CAL, Sacco O, Santen GWE, Santos-Simarro F, Scala M, Short J, Sørensen KP, Woods CG, DDD StudyWellcome Trust Sanger Institute, Cambridge, UK., TUDP ConsortiumTelethon Institute of Genetics and Medicine, Pozzuoli, Italy., Anyane Yeboa K.
    Am J Med Genet A; 2021 Dec; 185(12):3740-3753. PubMed ID: 34331327
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  • 8. Novel malformations: Chiari type 1 and hydrocephalus in Zhu-Tokita-Takenouchi-Kim syndrome and novel SON variants.
    Pavone P, Saia F, Pappalardo X, Barbagallo M, Prato A, Rizzo R.
    Clin Case Rep; 2022 Dec; 10(12):e6529. PubMed ID: 36540882
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  • 10. A Novel De novo Heterozygous Mutation in the SON Gene Associated with Septo-optic Dysplasia: A New Phenotype.
    Pasca L, Politano D, Cavallini A, Panzeri E, Vigone MC, Baldoli C, Abbate M, Kullmann G, Marelli S, Pozzobon G, Vincenzi G, Nacinovich R, Bassi MT, Romaniello R.
    Neuropediatrics; 2024 Jun; 55(3):191-195. PubMed ID: 37343586
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  • 11. Skin and nails abnormalities in a patient with ZTTK syndrome and a de novo mutation in SON.
    Quintana Castanedo L, Sánchez Orta A, Maseda Pedrero R, Santos Simarro F, Palomares Bralo M, Feito Rodríguez M, de Lucas Laguna R.
    Pediatr Dermatol; 2020 May; 37(3):517-519. PubMed ID: 32045494
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  • 12. 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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  • 14. 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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  • 16. 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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  • 17. Distinctive Brain Malformations in Zhu-Tokita-Takenouchi-Kim Syndrome.
    Halliday BJ, Baynam G, Ewans L, Greenhalgh L, Leventer RJ, Pilz DT, Sachdev R, Scheffer IE, Markie DM, McGillivray G, Robertson SP, Mandelstam S.
    AJNR Am J Neuroradiol; 2022 Nov 02; 43(11):1660-1666. PubMed ID: 36229163
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  • 19. Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report.
    Alves RM, Uva P, Veiga MF, Oppo M, Zschaber FCR, Porcu G, Porto HP, Persico I, Onano S, Cuccuru G, Atzeni R, Vieira LCN, Pires MVA, Cucca F, Toralles MBP, Angius A, Crisponi L.
    BMC Med Genet; 2019 Jan 14; 20(1):16. PubMed ID: 30642272
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