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312 related items for PubMed ID: 24145769

  • 1. Partial trisomy and tetrasomy of chromosome 21 without Down Syndrome phenotype and short overview of genotype-phenotype correlation. A case report.
    Capkova P, Misovicova N, Vrbicka D.
    Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2014 Jun; 158(2):321-5. PubMed ID: 24145769
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  • 2. Clinical, cytogenetic, and molecular characterization of a girl with some clinical features of Down syndrome resulting from a pure partial trisomy 21q22.11-qter due to a de novo intrachromosomal duplication.
    Vaglio A, Milunsky A, Quadrelli A, Huang XL, Maher T, Mechoso B, Martínez S, Pagano S, Bellini S, Costabel M, Quadrelli R.
    Genet Test Mol Biomarkers; 2010 Feb; 14(1):57-65. PubMed ID: 20143912
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  • 3. A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.
    Papoulidis I, Papageorgiou E, Siomou E, Oikonomidou E, Thomaidis L, Vetro A, Zuffardi O, Liehr T, Manolakos E, Vassilis P.
    Gene; 2014 Feb 25; 536(2):441-3. PubMed ID: 24334122
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  • 6. YAC and cosmid FISH mapping of an unbalanced chromosomal translocation causing partial trisomy 21 and Down syndrome.
    Nadal M, Milà M, Pritchard M, Mur A, Pujals J, Blouin JL, Antonarakis SE, Ballesta F, Estivill X.
    Hum Genet; 1996 Oct 25; 98(4):460-6. PubMed ID: 8792823
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  • 9. Tetrasomy 21 pter-->q22.1 and Down syndrome: molecular definition of the region.
    Daumer-Haas C, Schuffenhauer S, Walther JU, Schipper RD, Porstmann T, Korenberg JR.
    Am J Med Genet; 1994 Dec 01; 53(4):359-65. PubMed ID: 7532356
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  • 10. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21.
    Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu N, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Costantine M, Sinet PM, Delabar JM, Antonarakis SE.
    Eur J Hum Genet; 2009 Apr 01; 17(4):454-66. PubMed ID: 19002211
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  • 11. [SNP array analysis of three cases with partial 21q trisomy].
    Zhou L, Chen C, Zheng Z, Wu H, Xie F, Lin X, Xiang Y, Xu X, Tang S.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Dec 10; 34(6):861-865. PubMed ID: 29188617
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  • 12. Tetrasomy 21 pter→q21.3 due to an extra +dic(21;21)mat in a severely psychomotor-retarded female patient without Down syndrome phenotype.
    Takano T, Nakabayashi K, Ota H, Arai Y, Kamura H, Hata K.
    Eur J Med Genet; 2020 Apr 10; 63(4):103824. PubMed ID: 31830537
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  • 13. Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21.
    Pelleri MC, Cicchini E, Petersen MB, Tranebjaerg L, Mattina T, Magini P, Antonaros F, Caracausi M, Vitale L, Locatelli C, Seri M, Strippoli P, Piovesan A, Cocchi G.
    Mol Genet Genomic Med; 2019 Aug 10; 7(8):e797. PubMed ID: 31237416
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  • 14. Submicroscopic duplication of chromosome 21 and trisomy 21 phenotype (Down syndrome).
    Delabar JM, Sinet PM, Chadefaux B, Nicole A, Gegonne A, Stehelin D, Fridlansky F, Créau-Goldberg N, Turleau C, de Grouchy J.
    Hum Genet; 1987 Jul 10; 76(3):225-9. PubMed ID: 3036686
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  • 15. Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype.
    Ahlbom BE, Goetz P, Korenberg JR, Pettersson U, Seemanova E, Wadelius C, Zech L, Annerén G.
    Am J Med Genet; 1996 Jun 28; 63(4):566-72. PubMed ID: 8826436
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  • 16. Down syndrome: toward a molecular definition of the phenotype.
    Korenberg JR, Kawashima H, Pulst SM, Allen L, Magenis E, Epstein CJ.
    Am J Med Genet Suppl; 1990 Jun 28; 7():91-7. PubMed ID: 2149983
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  • 17. Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.
    Korenberg JR, Kawashima H, Pulst SM, Ikeuchi T, Ogasawara N, Yamamoto K, Schonberg SA, West R, Allen L, Magenis E.
    Am J Hum Genet; 1990 Aug 28; 47(2):236-46. PubMed ID: 2143053
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  • 18. Mapping of the Down syndrome phenotype on chromosome 21 at the molecular level.
    Sinet PM, Théophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, Noel B, Delabar JM.
    Biomed Pharmacother; 1994 Aug 28; 48(5-6):247-52. PubMed ID: 7999986
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  • 19. Down syndrome--a gene dosage disease caused by trisomy of genes within a small segment of the long arm of chromosome 21, exemplified by the study of effects from the superoxide-dismutase type 1 (SOD-1) gene.
    Annerén G, Edman B.
    APMIS Suppl; 1993 Aug 28; 40():71-9. PubMed ID: 8311993
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  • 20. A patient with Down syndrome with a de novo derivative chromosome 21.
    Cetin Z, Yakut S, Mihci E, Manguoglu AE, Berker S, Keser I, Luleci G.
    Gene; 2012 Oct 10; 507(2):159-64. PubMed ID: 22827956
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