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Journal Abstract Search

177 related items for PubMed ID: 23897859

  • 1. Duplication of the Xq27.3-q28 region, including the FMR1 gene, in an X-linked hypogonadism, gynecomastia, intellectual disability, short stature, and obesity syndrome.
    Hickey SE, Walters-Sen L, Mosher TM, Pfau RB, Pyatt R, Snyder PJ, Sotos JF, Prior TW.
    Am J Med Genet A; 2013 Sep; 161A(9):2294-9. PubMed ID: 23897859
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  • 3. Sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family.
    Young ID, Hughes HE.
    J Ment Defic Res; 1982 Sep; 26(Pt 3):153-62. PubMed ID: 7175926
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  • 4. X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
    Harakalova M, van den Boogaard MJ, Sinke R, van Lieshout S, van Tuil MC, Duran K, Renkens I, Terhal PA, de Kovel C, Nijman IJ, van Haelst M, Knoers NV, van Haaften G, Kloosterman W, Hennekam RC, Cuppen E, Ploos van Amstel HK.
    J Med Genet; 2012 Aug; 49(8):539-43. PubMed ID: 22889856
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  • 5. Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition.
    Rio M, Malan V, Boissel S, Toutain A, Royer G, Gobin S, Morichon-Delvallez N, Turleau C, Bonnefont JP, Munnich A, Vekemans M, Colleaux L.
    Eur J Hum Genet; 2010 Mar; 18(3):285-90. PubMed ID: 19844254
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  • 7. Chromosomal microarray analysis (CMA) detects a large X chromosome deletion including FMR1, FMR2, and IDS in a female patient with mental retardation.
    Probst FJ, Roeder ER, Enciso VB, Ou Z, Cooper ML, Eng P, Li J, Gu Y, Stratton RF, Chinault AC, Shaw CA, Sutton VR, Cheung SW, Nelson DL.
    Am J Med Genet A; 2007 Jun 15; 143A(12):1358-65. PubMed ID: 17506108
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  • 8. The incidence of hypoplasia of the corpus callosum in patients with dup (X)(q28) involving MECP2 is associated with the location of distal breakpoints.
    Honda S, Hayashi S, Nakane T, Imoto I, Kurosawa K, Mizuno S, Okamoto N, Kato M, Yoshihashi H, Kubota T, Nakagawa E, Goto Y, Inazawa J.
    Am J Med Genet A; 2012 Jun 15; 158A(6):1292-303. PubMed ID: 22528406
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  • 11. Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
    Andersen EF, Baldwin EE, Ellingwood S, Smith R, Lamb AN.
    Am J Med Genet A; 2014 Jul 15; 164A(7):1795-801. PubMed ID: 24700761
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  • 12. Xq21.31-q21.32 duplication underlies intellectual disability in a large family with five affected males.
    Basit S, Malibari OI, Al-Balawi AM, Afzal S, Eldardear AE, Ramzan K.
    Am J Med Genet A; 2016 Jan 15; 170A(1):87-93. PubMed ID: 26358363
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  • 15. Mapping the landscape of tandem repeat variability by targeted long read single molecule sequencing in familial X-linked intellectual disability.
    Zablotskaya A, Van Esch H, Verstrepen KJ, Froyen G, Vermeesch JR.
    BMC Med Genomics; 2018 Dec 19; 11(1):123. PubMed ID: 30567555
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  • 16. Intellectual disability and epilepsy due to the K/L-mediated Xq28 duplication: Further evidence of a distinct, dosage-dependent phenotype.
    Ward DI, Buckley BA, Leon E, Diaz J, Galegos MF, Hofherr S, Lewanda AF.
    Am J Med Genet A; 2018 Mar 19; 176(3):551-559. PubMed ID: 29341460
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  • 19. De novo duplication of 17p13.1-p13.2 in a patient with intellectual disability and obesity.
    Kuroda Y, Ohashi I, Tominaga M, Saito T, Nagai J, Ida K, Naruto T, Masuno M, Kurosawa K.
    Am J Med Genet A; 2014 Jun 19; 164A(6):1550-4. PubMed ID: 24668897
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  • 20. Two brothers with Martsolf's syndrome.
    Sánchez JM, Barreiro C, Freilij H.
    J Med Genet; 1985 Aug 19; 22(4):308-10. PubMed ID: 4045961
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