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Journal Abstract Search

128 related items for PubMed ID: 35102032

  • 21. Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
    Ibarluzea N, Hoz AB, Villate O, Llano I, Ocio I, Martí I, Guitart M, Gabau E, Andrade F, Gener B, Tejada MI.
    Genes (Basel); 2020 Jan 02; 11(1):. PubMed ID: 31906484
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  • 22. MED12 variants associated with X-linked recessive partial epilepsy without intellectual disability.
    Yang JH, Liu ZG, Liu CL, Zhang MR, Jia YL, Zhai QX, He MF, He N, Qiao JD.
    Seizure; 2024 Mar 02; 116():30-36. PubMed ID: 36894399
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  • 23. Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
    Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P.
    Am J Med Genet A; 2006 Jun 15; 140(12):1285-96. PubMed ID: 16700052
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  • 27. A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome.
    Mendez R, Delea M, Dain L, Rittler M.
    Clin Dysmorphol; 2020 Jan 15; 29(1):42-45. PubMed ID: 30921092
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  • 31. A novel MED12 mutation: Evidence for a fourth phenotype.
    Prontera P, Ottaviani V, Rogaia D, Isidori I, Mencarelli A, Malerba N, Cocciadiferro D, Rolph P, Stangoni G, Vulto-van Silfhout A, Merla G.
    Am J Med Genet A; 2016 Sep 15; 170(9):2377-82. PubMed ID: 27312080
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  • 34. Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomas.
    Mäkinen N, Vahteristo P, Bützow R, Sjöberg J, Aaltonen LA.
    Int J Cancer; 2014 Feb 15; 134(4):1008-12. PubMed ID: 23913526
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  • 35. 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 15; 23(4):645-652. PubMed ID: 33244165
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  • 36. The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).
    Dawidziuk M, Kutkowska-Kaźmierczak A, Gawliński P, Wiszniewski W, Gos M, Stawiński P, Rydzanicz M, Kosińska J, Własienko P, Malinowska Kordowska O, Bartnik-Głaska M, Bernaciak J, Szczałuba K, Bekiesińska-Figatowska M, Płoski R, Bal J, Olimpia Rzońca-Niewczas S.
    J Mother Child; 2021 Apr 30; 24(3):32-36. PubMed ID: 33930262
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  • 39. Homozygous missense mutation in MED25 segregates with syndromic intellectual disability in a large consanguineous family.
    Figueiredo T, Melo US, Pessoa AL, Nobrega PR, Kitajima JP, Correa I, Zatz M, Kok F, Santos S.
    J Med Genet; 2015 Feb 30; 52(2):123-7. PubMed ID: 25527630
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  • 40. A novel UBE2A mutation in a Chinese family with X-linked intellectual disability.
    Jia W, Hu Q, Wu Y, Wang J, Liu Z, Zhang X.
    J Gene Med; 2020 Aug 30; 22(8):e3191. PubMed ID: 32222108
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