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Journal Abstract Search

165 related items for PubMed ID: 28369444

  • 1. MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
    Donnio LM, Bidon B, Hashimoto S, May M, Epanchintsev A, Ryan C, Allen W, Hackett A, Gecz J, Skinner C, Stevenson RE, de Brouwer APM, Coutton C, Francannet C, Jouk PS, Schwartz CE, Egly JM.
    Hum Mol Genet; 2017 Jun 01; 26(11):2062-2075. PubMed ID: 28369444
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  • 3. MED12 missense mutation in a three-generation family. Clinical characterization of MED12-related disorders and literature review.
    Rubinato E, Rondeau S, Giuliano F, Kossorotoff M, Parodi M, Gherbi S, Steffan J, Jonard L, Marlin S.
    Eur J Med Genet; 2020 Mar 01; 63(3):103768. PubMed ID: 31536828
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  • 4. Dysregulations of sonic hedgehog signaling in MED12-related X-linked intellectual disability disorders.
    Srivastava S, Niranjan T, May MM, Tarpey P, Allen W, Hackett A, Jouk PS, Raymond L, Briault S, Skinner C, Toutain A, Gecz J, Heath W, Stevenson RE, Schwartz CE, Wang T.
    Mol Genet Genomic Med; 2019 Apr 01; 7(4):e00569. PubMed ID: 30729724
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  • 5. MED12-Related (Neuro)Developmental Disorders: A Question of Causality.
    Plassche SV, Brouwer AP.
    Genes (Basel); 2021 Apr 28; 12(5):. PubMed ID: 33925166
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  • 6. Clinical and neurocognitive characterization of a family with a novel MED12 gene frameshift mutation.
    Lesca G, Moizard MP, Bussy G, Boggio D, Hu H, Haas SA, Ropers HH, Kalscheuer VM, Des Portes V, Labalme A, Sanlaville D, Edery P, Raynaud M, Lespinasse J.
    Am J Med Genet A; 2013 Dec 28; 161A(12):3063-71. PubMed ID: 24039113
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  • 7. Mutations in MED12 cause X-linked Ohdo syndrome.
    Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP.
    Am J Hum Genet; 2013 Mar 07; 92(3):401-6. PubMed ID: 23395478
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  • 10. MED12 related disorders.
    Graham JM, Schwartz CE.
    Am J Med Genet A; 2013 Nov 07; 161A(11):2734-40. PubMed ID: 24123922
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  • 12. MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling.
    Zhou H, Spaeth JM, Kim NH, Xu X, Friez MJ, Schwartz CE, Boyer TG.
    Proc Natl Acad Sci U S A; 2012 Nov 27; 109(48):19763-8. PubMed ID: 23091001
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  • 14. A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome).
    Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R.
    Clin Genet; 2011 Feb 27; 79(2):183-8. PubMed ID: 20507344
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  • 15. Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities?
    Hackmann K, Rump A, Haas SA, Lemke JR, Fryns JP, Tzschach A, Wieczorek D, Albrecht B, Kuechler A, Ripperger T, Kobelt A, Oexle K, Tinschert S, Schrock E, Kalscheuer VM, Di Donato N.
    Am J Med Genet A; 2016 Jan 27; 170A(1):94-102. PubMed ID: 26358559
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  • 16. Qualitative and quantitative analysis of MED12 c.887G>A causing both missense and splicing variants in X-linked Ohdo syndrome.
    Togi S, Ura H, Niida Y.
    Am J Med Genet A; 2024 Sep 27; 194(9):e63628. PubMed ID: 38655688
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  • 18. De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?
    Caro-Llopis A, Rosello M, Orellana C, Oltra S, Monfort S, Mayo S, Martinez F.
    Pediatr Res; 2016 Dec 27; 80(6):809-815. PubMed ID: 27500536
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