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Journal Abstract Search

195 related items for PubMed ID: 32291808

  • 21. De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
    Kim JH, Shinde DN, Reijnders MRF, Hauser NS, Belmonte RL, Wilson GR, Bosch DGM, Bubulya PA, Shashi V, Petrovski S, Stone JK, Park EY, Veltman JA, Sinnema M, Stumpel CTRM, Draaisma JM, Nicolai J, University of Washington Center for Mendelian Genomics, Yntema HG, Lindstrom K, de Vries BBA, Jewett T, Santoro SL, Vogt J, Deciphering Developmental Disorders StudyWellcome Trust Sanger Institute, Hinxton, Cambridge CB10 1SA, UK., Bachman KK, Seeley AH, Krokosky A, Turner C, Rohena L, Hempel M, Kortüm F, Lessel D, Neu A, Strom TM, Wieczorek D, Bramswig N, Laccone FA, Behunova J, Rehder H, Gordon CT, Rio M, Romana S, Tang S, El-Khechen D, Cho MT, McWalter K, Douglas G, Baskin B, Begtrup A, Funari T, Schoch K, Stegmann APA, Stevens SJC, Zhang DE, Traver D, Yao X, MacArthur DG, Brunner HG, Mancini GM, Myers RM, Owen LB, Lim ST, Stachura DL, Vissers LELM, Ahn EYE.
    Am J Hum Genet; 2016 Sep 01; 99(3):711-719. PubMed ID: 27545680
    [Abstract] [Full Text] [Related]

  • 22. Immune dysregulation, polyendocrinopathy and enteropathy, X-linked (IPEX) syndrome due to a mutation in FOXP3, modified by a pathogenic variant in SON (SON DNA-binding protein).
    Kylat RI, Stanley K, Simon S, Erickson RP.
    J Appl Genet; 2023 Feb 01; 64(1):141-144. PubMed ID: 36175752
    [Abstract] [Full Text] [Related]

  • 23. De novo splice site variant of ARID1B associated with pathogenesis of Coffin-Siris syndrome.
    Pranckėnienė L, Siavrienė E, Gueneau L, Preikšaitienė E, Mikštienė V, Reymond A, Kučinskas V.
    Mol Genet Genomic Med; 2019 Dec 01; 7(12):e1006. PubMed ID: 31628733
    [Abstract] [Full Text] [Related]

  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. A de novo frameshift variant of ANKRD11 (c.1366_1367dup) in a Chinese patient with KBG syndrome.
    Chen J, Xia Z, Zhou Y, Ma X, Wang X, Guo Q.
    BMC Med Genomics; 2021 Mar 02; 14(1):68. PubMed ID: 33653342
    [Abstract] [Full Text] [Related]

  • 26. De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.
    Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA.
    Am J Hum Genet; 2016 Sep 01; 99(3):720-727. PubMed ID: 27545676
    [Abstract] [Full Text] [Related]

  • 27. Genetic analysis and literature review of a Poirier-Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B.
    Li D, Zhou B, Tian X, Chen X, Wang Y, Hao S, Zhang C, Hui L.
    Mol Genet Genomic Med; 2024 Jan 01; 12(1):e2327. PubMed ID: 38037515
    [Abstract] [Full Text] [Related]

  • 28. Uncovering a Genetic Diagnosis in a Pediatric Patient by Whole Exome Sequencing: A Modeling Investigation in Wiedemann-Steiner Syndrome.
    di Bari I, Ceccarini C, Curcetti M, Cesarano C, Croce AI, Adipietro I, Gallicchio MG, Palladino GP, Patrizio MP, Frisoli B, Santacroce R, D'Apolito M, D'Andrea G, Castriota OM, Pierri CL, Margaglione M.
    Genes (Basel); 2024 Sep 01; 15(9):. PubMed ID: 39336746
    [Abstract] [Full Text] [Related]

  • 29. Agenesis of Corpus Callosum, Malformations of Cortical Development, Duodenal Atresia and Fetal Growth Restriction: Prenatal Markers for Zhu-Tokita-Takenouchi-Kim Syndrome.
    Carmant LS, Miller E, Chong K, Chitayat D, Shinar S.
    Prenat Diagn; 2024 Oct 01; 44(11):1416-1419. PubMed ID: 39223738
    [No Abstract] [Full Text] [Related]

  • 30. 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
    [Abstract] [Full Text] [Related]

  • 31. 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 11; 7(11):e953. PubMed ID: 31557424
    [Abstract] [Full Text] [Related]

  • 32. Hypogammaglobulinemia in 2 children with Zhu-Tokita-Takenouchi-Kim syndrome.
    Van Stechelman P, Wilson B, Grebe TA, Jaffery S, Bauer CS.
    Ann Allergy Asthma Immunol; 2024 Jul 11; 133(1):109-110. PubMed ID: 38588913
    [No Abstract] [Full Text] [Related]

  • 33. A de novo PAK1 likely pathogenic variant and a de novo terminal 1q microdeletion in a Chinese girl with global developmental delay, severe intellectual disability, and seizures.
    Zhuang J, Xie M, Yao J, Fu W, Zeng S, Jiang Y, Wang Y, Xie Y, Wang G, Chen C.
    BMC Med Genomics; 2023 Jan 09; 16(1):3. PubMed ID: 36624491
    [Abstract] [Full Text] [Related]

  • 34. Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
    Yang Q, Qin Z, Zhang Q, Yi S, Yi S, Luo J.
    BMC Med Genomics; 2022 Mar 23; 15(1):67. PubMed ID: 35321723
    [Abstract] [Full Text] [Related]

  • 35. Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome.
    Kolanczyk M, Krawitz P, Hecht J, Hupalowska A, Miaczynska M, Marschner K, Schlack C, Emmerich D, Kobus K, Kornak U, Robinson PN, Plecko B, Grangl G, Uhrig S, Mundlos S, Horn D.
    Eur J Hum Genet; 2015 May 23; 23(5):633-8. PubMed ID: 24916641
    [Abstract] [Full Text] [Related]

  • 36. [Identification of a novel frameshift variant in the KMT2A gene of a child with Wiedemann-Steiner syndrome].
    Wu R, Tang W, Qiu K, Zhang X, Meng Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jun 10; 39(6):630-633. PubMed ID: 35773769
    [Abstract] [Full Text] [Related]

  • 37. Triple diagnosis of Wiedemann-Steiner, Waardenburg and DLG3-related intellectual disability association found by WES: A case report.
    Matis T, Michaud V, Van-Gils J, Raclet V, Plaisant C, Fergelot P, Lasseaux E, Arveiler B, Trimouille A.
    J Gene Med; 2020 Aug 10; 22(8):e3197. PubMed ID: 32246869
    [Abstract] [Full Text] [Related]

  • 38. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
    Fritzen D, Kuechler A, Grimmel M, Becker J, Peters S, Sturm M, Hundertmark H, Schmidt A, Kreiß M, Strom TM, Wieczorek D, Haack TB, Beck-Wödl S, Cremer K, Engels H.
    Hum Genet; 2018 May 10; 137(5):401-411. PubMed ID: 29796876
    [Abstract] [Full Text] [Related]

  • 39. Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing.
    Lu G, Peng Q, Wu L, Zhang J, Ma L.
    BMC Med Genomics; 2021 Nov 14; 14(1):270. PubMed ID: 34775996
    [Abstract] [Full Text] [Related]

  • 40. Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.
    Han JY, Lee IG, Jang W, Kim M, Kim Y, Jang JH, Park J.
    Eur J Med Genet; 2017 Oct 14; 60(10):559-564. PubMed ID: 28807762
    [Abstract] [Full Text] [Related]

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