BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

152 related articles for article (PubMed ID: 35315044)

  • 1. [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; 39(3):316-320. PubMed ID: 35315044
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Phenotypic expansion in Zhu-Tokita-Takenouchi-Kim syndrome caused by de novo variants in the SON gene.
    Slezak R; Smigiel R; Rydzanicz M; Pollak A; Kosinska J; Stawinski P; Malgorzata Sasiadek M; Ploski R
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1432. PubMed ID: 32705777
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A de novo heterozygous variant in the SON gene is associated with Zhu-Tokita-Takenouchi-Kim syndrome.
    Yang L; Yang F
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1496. PubMed ID: 32926520
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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; 24(1):232. PubMed ID: 38566089
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of
    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; 14(3):. PubMed ID: 36981010
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel malformations: Chiari type 1 and hydrocephalus in Zhu-Tokita-Takenouchi-Kim syndrome and novel
    Pavone P; Saia F; Pappalardo X; Barbagallo M; Prato A; Rizzo R
    Clin Case Rep; 2022 Dec; 10(12):e6529. PubMed ID: 36540882
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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; 30(3):271-281. PubMed ID: 34521999
    [TBL] [Abstract][Full Text] [Related]  

  • 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
    [TBL] [Abstract][Full Text] [Related]  

  • 12.
    Langford J; Vukadin L; Carey JC; Botto LD; Velinder M; Mao R; Miller CE; Filloux F; Ahn EE
    Neurol Genet; 2023 Jun; 9(3):e200062. PubMed ID: 37057295
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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; 7(11):e953. PubMed ID: 31557424
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel De Novo Heterozygous Variants in the
    Eid M; Bhatia S
    Child Neurol Open; 2022; 9():2329048X221119658. PubMed ID: 36387043
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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; 14():1183362. PubMed ID: 37476413
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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; 13(1):80. PubMed ID: 32448361
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].
    Shen Y; Luo G; Lu C; Tan Y; Cheng T; Qian X; Li N; Luo M; Cao Z; Ma X; Zhao Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):57-61. PubMed ID: 36585002
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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; 9(3):e200072. PubMed ID: 37168776
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Analysis of IQSEC2 gene variant in a child with X-linked mental retardation].
    Zhao J; Yang X; Li J; Wang H; Zhang W; Fang F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Apr; 39(4):421-424. PubMed ID: 35446980
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.