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Journal Abstract Search

354 related items for PubMed ID: 26338144

  • 1. Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum.
    Langley KG, Brown J, Gerber RJ, Fox J, Friez MJ, Lyons M, Schrier Vergano SA.
    Am J Med Genet A; 2015 Dec; 167A(12):3180-5. PubMed ID: 26338144
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  • 2. 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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  • 5. MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.
    Rocchetti L, Evangelista E, De Falco L, Savarese G, Savarese P, Ruggiero R, D'Amore L, Sensi A, Fico A.
    Genes (Basel); 2021 Aug 27; 12(9):. PubMed ID: 34573309
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  • 7. 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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  • 10. A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12.
    Murakami H, Enomoto Y, Tsurusaki Y, Sugio Y, Kurosawa K.
    Congenit Anom (Kyoto); 2020 May 01; 60(3):91-93. PubMed ID: 31322785
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  • 11. Two male sibs with severe micrognathia and a missense variant in MED12.
    Prescott TE, Kulseth MA, Heimdal KR, Stadheim B, Hopp E, Gambin T, Coban Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Stray-Pedersen A.
    Eur J Med Genet; 2016 Aug 01; 59(8):367-72. PubMed ID: 27286923
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  • 12. The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms.
    Campeau PM, Lu JT, Dawson BC, Fokkema IF, Robertson SP, Gibbs RA, Lee BH.
    Hum Mutat; 2012 Nov 01; 33(11):1520-5. PubMed ID: 22715153
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  • 13. Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
    Maia N, Ibarluzea N, Misra-Isrie M, Koboldt DC, Marques I, Soares G, Santos R, Marcelis CLM, Keski-Filppula R, Guitart M, Gabau Vila E, Lehman A, Hickey S, Mori M, Terhal P, Valenzuela I, Lasa-Aranzasti A, Cueto-González AM, Chhouk BH, Yeh RC, Neil JE, Abu-Libde B, Kleefstra T, Elting MW, Császár A, Kárteszi J, Bessenyei B, van Bokhoven H, Jorge P, van Hagen JM, de Brouwer APM.
    Am J Med Genet A; 2023 Jan 01; 191(1):135-143. PubMed ID: 36271811
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  • 15. A novel variant in MED12 gene: Further delineation of phenotype.
    Narayanan DL, Phadke SR.
    Am J Med Genet A; 2017 Aug 01; 173(8):2257-2260. PubMed ID: 28544239
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  • 16. 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 01; 170A(1):94-102. PubMed ID: 26358559
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  • 17. Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.
    Isidor B, Lefebvre T, Le Vaillant C, Caillaud G, Faivre L, Jossic F, Joubert M, Winer N, Le Caignec C, Borck G, Pelet A, Amiel J, Toutain A, Ronce N, Raynaud M, Verloes A, David A.
    Am J Med Genet A; 2014 Jul 01; 164A(7):1821-5. PubMed ID: 24715367
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  • 18. X-linked Ohdo syndrome due to a novel MED12 variant detected by Rapid Exome Sequencing.
    McDermott H, Garikapati V, Baptista J, Gowda H, Naik S.
    Clin Dysmorphol; 2022 Apr 01; 31(2):101-105. PubMed ID: 35102032
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  • 19. The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.
    Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke JR, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer VM.
    Clin Genet; 2018 Nov 01; 94(5):450-456. PubMed ID: 30006928
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  • 20. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.
    Polla DL, Bhoj EJ, Verheij JBGM, Wassink-Ruiter JSK, Reis A, Deshpande C, Gregor A, Hill-Karfe K, Silfhout ATV, Pfundt R, Bongers EMHF, Hakonarson H, Berland S, Gradek G, Banka S, Chandler K, Gompertz L, Huffels SC, Stumpel CTRM, Wennekes R, Stegmann APA, Reardon W, Leenders EKSM, de Vries BBA, Li D, Zackai E, Ragge N, Lynch SA, Cuddapah S, van Bokhoven H, Zweier C, de Brouwer APM.
    Genet Med; 2021 Apr 01; 23(4):645-652. PubMed ID: 33244165
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