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Journal Abstract Search

179 related items for PubMed ID: 29441129

  • 1. Rare partial octosomy and hexasomy of 15q11-q13 associated with intellectual impairment and development delay: report of two cases and review of literature.
    Li H, Du J, Li W, Cheng D, He W, Yi D, Xiong B, Yuan S, Tu C, Meng L, Luo A, Lin G, Lu G, Tan YQ.
    Mol Cytogenet; 2018; 11():15. PubMed ID: 29441129
    [Abstract] [Full Text] [Related]

  • 2.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Lusk L, Vogel-Farley V, DiStefano C, Jeste S.
    ; 1993. PubMed ID: 27308687
    [Abstract] [Full Text] [Related]

  • 3. The inv dup (15) or idic (15) syndrome (Tetrasomy 15q).
    Battaglia A.
    Orphanet J Rare Dis; 2008 Nov 19; 3():30. PubMed ID: 19019226
    [Abstract] [Full Text] [Related]

  • 4. Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder.
    Lu Y, Liang Y, Ning S, Deng G, Xie Y, Song J, Zuo N, Feng C, Qin Y.
    Mol Cytogenet; 2020 Nov 19; 13():21. PubMed ID: 32536972
    [Abstract] [Full Text] [Related]

  • 5. Infantile spasms in a mosaic monocentric and duplicated SMC 15 patient.
    Isobe K, Matsumoto H, Tamura Y, Hashimoto J, Matsubara K, Nonoyama S.
    Brain Dev; 2018 Nov 19; 40(10):891-896. PubMed ID: 29960745
    [Abstract] [Full Text] [Related]

  • 6. Clinical, cytogenetic, and molecular analyses of prenatally diagnosed mosaic tetrasomy for distal chromosome 15q and review of the literature.
    Chen CP, Lin CC, Li YC, Chern SR, Lee CC, Chen WL, Lee MS, Wang W, Tzen CY.
    Prenat Diagn; 2004 Oct 19; 24(10):767-73. PubMed ID: 15503270
    [Abstract] [Full Text] [Related]

  • 7. The behavioral phenotype of the idic(15) syndrome.
    Battaglia A, Parrini B, Tancredi R.
    Am J Med Genet C Semin Med Genet; 2010 Nov 15; 154C(4):448-55. PubMed ID: 20981774
    [Abstract] [Full Text] [Related]

  • 8. A study of two Chinese patients with tetrasomy and pentasomy 15q11q13 including Prader-Willi/Angelman syndrome critical region present with developmental delays and mental impairment.
    Yang J, Yang Y, Huang Y, Hu Y, Chen X, Sun H, Lv Z, Cheng Q, Bao L.
    BMC Med Genet; 2013 Jan 15; 14():9. PubMed ID: 23320815
    [Abstract] [Full Text] [Related]

  • 9. The inv dup(15) or idic(15) syndrome: a clinically recognisable neurogenetic disorder.
    Battaglia A.
    Brain Dev; 2005 Aug 15; 27(5):365-9. PubMed ID: 16023554
    [Abstract] [Full Text] [Related]

  • 10. [Prenatal diagnosis of a fetus with 15q11q13 complex duplication syndrome and a literature review].
    Zhang Y, Xue J, Liu Y, Li H.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Oct 10; 41(10):1264-1270. PubMed ID: 39344625
    [Abstract] [Full Text] [Related]

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  • 13. Double supernumerary isodicentric chromosomes derived from 15 resulting in partial hexasomy.
    Qumsiyeh MB, Rafi SK, Sarri C, Grigoriadou M, Gyftodimou J, Pandelia E, Laskari H, Petersen MB.
    Am J Med Genet A; 2003 Feb 01; 116A(4):356-9. PubMed ID: 12522791
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  • 16. Partial tetrasomy of the proximal long arm of chromosome 15 in two patients: the significance of the gene dosage in terms of phenotype.
    Szabo A, Czako M, Hadzsiev K, Duga B, Komlosi K, Melegh B.
    Mol Cytogenet; 2015 Feb 01; 8():41. PubMed ID: 26110020
    [Abstract] [Full Text] [Related]

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  • 18. [Genetic analysis of a case with mosaicism of a small supernumerary marker chromosome derived from idic(15)].
    Shao M, Wang Y, Zhao N, Liu P.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan 10; 39(1):85-88. PubMed ID: 34964975
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  • 20. Complex small supernumerary marker chromosome with a 15q/16p duplication: clinical implications.
    Christofolini DM, Piazzon FB, Evo C, Mafra FA, Cosenza SR, Dias AT, Barbosa CP, Bianco B, Kulikowski LD.
    Mol Cytogenet; 2014 Jan 10; 7():29. PubMed ID: 24839463
    [Abstract] [Full Text] [Related]

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