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Journal Abstract Search


144 related items for PubMed ID: 32924122

  • 1. [Genetic analysis of a pedigree with MECP duplication syndrome].
    Liu J, Xi H, Peng Y, Pang J, Hu J, Ma N, Jia Z, Wang H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Oct 10; 37(10):1146-1149. PubMed ID: 32924122
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  • 2. Genetic analysis of a pedigree with MECP2 duplication syndrome in China.
    Zeng L, Zhu H, Wang J, Wang Q, Pang Y, Luo Z, Chen A, Qin S, Zhu S.
    BMC Med Genomics; 2024 Feb 19; 17(1):54. PubMed ID: 38373942
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  • 3. [Clinical phenotype and genetic analysis of MECP2 duplication syndrome].
    Chen D, Wang L, Hou Y, Shi P, Qin G, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec 10; 38(12):1190-1193. PubMed ID: 34839504
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  • 4. [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 10; 52(12):937-41. PubMed ID: 25619353
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  • 5. 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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  • 11. 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 15; 64(12):104367. PubMed ID: 34678473
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  • 14. Clinical characterization and identification of duplication breakpoints in a Japanese family with Xq28 duplication syndrome including MECP2.
    Fukushi D, Yamada K, Nomura N, Naiki M, Kimura R, Yamada Y, Kumagai T, Yamaguchi K, Miyake Y, Wakamatsu N.
    Am J Med Genet A; 2014 Apr 15; 164A(4):924-33. PubMed ID: 24478188
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  • 15. MECP2 duplication syndrome in a Chinese family.
    Zhang Q, Zhao Y, Yang Y, Bao X.
    BMC Med Genet; 2015 Dec 16; 16():112. PubMed ID: 26672597
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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 16; 176(3):551-559. PubMed ID: 29341460
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  • 19. 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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  • 20. Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation.
    Honda S, Satomura S, Hayashi S, Imoto I, Nakagawa E, Goto Y, Inazawa J, Japanese Mental Retardation Consortium.
    J Hum Genet; 2012 Jan 21; 57(1):73-7. PubMed ID: 22129561
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