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Journal Abstract Search

629 related items for PubMed ID: 27708714

  • 1. The presence of two rare genomic syndromes, 1q21 deletion and Xq28 duplication, segregating independently in a family with intellectual disability.
    Ha K, Shen Y, Graves T, Kim CH, Kim HG.
    Mol Cytogenet; 2016; 9():74. PubMed ID: 27708714
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  • 3. Chromosome Xq28 duplication encompassing MECP2: Clinical and molecular analysis of 16 new patients from 10 families in China.
    Yi Z, Pan H, Li L, Wu H, Wang S, Ma Y, Qi Y.
    Eur J Med Genet; 2016 Jun; 59(6-7):347-53. PubMed ID: 27180140
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  • 4. De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay.
    Lin DS, Chuang TP, Chiang MF, Ho CS, Hsiao CD, Huang YW, Wu TY, Wu JY, Chen YT, Chen TC, Li LH.
    Gene; 2014 Jan 01; 533(1):78-85. PubMed ID: 24129071
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  • 5. 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 01; 164A(7):1795-801. PubMed ID: 24700761
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  • 6. MECP2 duplication: possible cause of severe phenotype in females.
    Scott Schwoerer J, Laffin J, Haun J, Raca G, Friez MJ, Giampietro PF.
    Am J Med Genet A; 2014 Apr 01; 164A(4):1029-34. PubMed ID: 24458799
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  • 9. An eight-case 1q21 region series: novel aberrations and clinical variability with new features.
    Ceylan AC, Sahin I, Erdem HB, Kayhan G, Simsek-Kiper PO, Utine GE, Percin F, Boduroglu K, Alikasifoglu M.
    J Intellect Disabil Res; 2019 Jun 01; 63(6):548-557. PubMed ID: 30773728
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  • 10. Molecular and clinical insights into complex genomic rearrangements related to MECP2 duplication syndrome.
    Abdala BB, Gonçalves AP, Dos Santos JM, Boy R, de Carvalho CMB, Grochowski CM, Krepischi ACV, Rosenberg C, Gusmão L, Pehlivan D, Pimentel MMG, Santos-Rebouças CB.
    Eur J Med Genet; 2021 Dec 01; 64(12):104367. PubMed ID: 34678473
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  • 11. Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family.
    Li X, Xie H, Chen Q, Yu X, Yi Z, Li E, Zhang T, Wang J, Zhong J, Chen X.
    BMC Med Genet; 2017 Nov 15; 18(1):131. PubMed ID: 29141583
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  • 12. Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.
    Qi Z, Jeng LJ, Slavotinek A, Yu J.
    BMC Med Genomics; 2015 Jul 15; 8():38. PubMed ID: 26174853
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  • 13. [Diagnosis of MECP2 duplication syndrome with molecular genetic techniques].
    Yi Z, Wang S, Li L, Wu H, Ma Y, Qi Y, Pan H.
    Zhonghua Er Ke Za Zhi; 2014 Dec 15; 52(12):937-41. PubMed ID: 25619353
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  • 14.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Van Esch H.
    ; 1993 Dec 15. PubMed ID: 20301461
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  • 16. Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.
    Sonmez FM, Uctepe E, Aktas D, Alikasifoglu M.
    Intractable Rare Dis Res; 2017 Feb 15; 6(1):61-64. PubMed ID: 28357185
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  • 17. A case report of Chinese brothers with inherited MECP2-containing duplication: autism and intellectual disability, but not seizures or respiratory infections.
    Xu X, Xu Q, Zhang Y, Zhang X, Cheng T, Wu B, Ding Y, Lu P, Zheng J, Zhang M, Qiu Z, Yu X.
    BMC Med Genet; 2012 Aug 21; 13():75. PubMed ID: 22909152
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