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Journal Abstract Search

142 related items for PubMed ID: 11343338

  • 1. Unique case of trisomy 2p24.3-pter with no associated monosomy.
    Roggenbuck JA, Fink JM, Mendelsohn NJ.
    Am J Med Genet; 2001 Jun 01; 101(1):50-4. PubMed ID: 11343338
    [Abstract] [Full Text] [Related]

  • 2. Distal monosomy 16p13.3/distal trisomy 2p24.2-pter: molecular-cytogenetic characterisation and phenotype.
    Mach M, Windpassinger C, Wagner K, Kroisel PM, Petek E.
    Genet Couns; 2007 Jun 01; 18(1):9-16. PubMed ID: 17515297
    [Abstract] [Full Text] [Related]

  • 3. Spectral karyotyping and fluorescence in situ hybridization analysis of de novo partial trisomy 7p (7p21.2-->pter) and partial monosomy 12q (12q24.33-->qter).
    Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Huang JK, Lee CC, Wang W.
    Genet Couns; 2006 Jun 01; 17(1):57-63. PubMed ID: 16719278
    [Abstract] [Full Text] [Related]

  • 4. Partial monosomy 8p and partial trisomy 8p with moderate mental retardation.
    van Balkom ID, Hagendoorn J, De Pater JM, Hennekam RC.
    Genet Couns; 1992 Jun 01; 3(2):83-9. PubMed ID: 1642815
    [Abstract] [Full Text] [Related]

  • 5. Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.
    Fukushi D, Kurosawa K, Suzuki Y, Suzuki K, Yamada K, Watanabe S, Yokochi K, Wakamatsu N.
    Am J Med Genet A; 2017 Aug 01; 173(8):2201-2209. PubMed ID: 28599099
    [Abstract] [Full Text] [Related]

  • 6. Duplication 2p and monosomy 8p in mosaicism: clinical, molecular cytogenetic and molecular markers of a unique case.
    Martínez A, Ramos S, González-del Angel A, Alcántara MA, Molina B, Carnevale A.
    Rev Invest Clin; 2007 Aug 01; 59(6):444-8. PubMed ID: 18402336
    [Abstract] [Full Text] [Related]

  • 7. Proximal trisomy 13q and distal monosomy 8p in a dysmorphic and mentally retarded patient with an isodicentric chromosome 13q and a 13q/8p translocation chromosome.
    Lukusa T, van den Berghe L, Smeets E, Fryns JP.
    Ann Genet; 1999 Aug 01; 42(4):215-20. PubMed ID: 10674161
    [Abstract] [Full Text] [Related]

  • 8. A case of partial trisomy 2p23-pter syndrome with trisomy 18p due to a de novo supernumerary marker chromosome.
    Lee JH, Cho HS, Lee ES, Jung BC.
    Korean J Lab Med; 2010 Jun 01; 30(3):312-7. PubMed ID: 20603594
    [Abstract] [Full Text] [Related]

  • 9. Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter.
    Yamada K, Uchiyama A, Arai M, Kubodera K, Yamamoto Y, Orii KO, Nagasawa H, Masuno M, Kohno Y.
    Congenit Anom (Kyoto); 2009 Jun 01; 49(2):85-8. PubMed ID: 19489960
    [Abstract] [Full Text] [Related]

  • 10. Partial trisomy 2p24-->pter and monosomy 18q22.1- qter resulting from parental translocation.
    Atik T, Durmaz B, Yorganci OU, Cogulu O, Kioutsouk M, Ozkinay F.
    Genet Couns; 2013 Jun 01; 24(2):179-84. PubMed ID: 24032288
    [Abstract] [Full Text] [Related]

  • 11. 46,XX,der(2)t(2;10)(2pter-->2q37::10p13-->10pter)[127]/45,X,der(2)t(2;10) (2pter-->2q37::10p13-->10pter)[23]. Karyotype-phenotype correlation and genetic counselling in complex karyotypes.
    Grammatico P, Majore S, Marrocco G, Poscente M, Mordenti C, Grammatico B, Del Porto G.
    Genet Couns; 1999 Jun 01; 10(4):351-8. PubMed ID: 10631922
    [Abstract] [Full Text] [Related]

  • 12. Partial trisomy 1q (1q32-->1qter) in adulthood: further delineation of the phenotype.
    Van Buggenhout G, De Coen L, Fryns JP.
    Ann Genet; 1998 Jun 01; 41(2):77-81. PubMed ID: 9706337
    [Abstract] [Full Text] [Related]

  • 13. Spectral karyotyping, fluorescence in situ hybridization and molecular genetic analysis of de novo partial trisomy 7p (7p15.1 --> pter) and partial monosomy 9p (9p22 --> pter).
    Chen CP, Lin SP, Lin CC, Li YC, Hsieh LJ, Chern SR, Lee CC, Chen YJ, Wang W.
    Prenat Diagn; 2005 Dec 01; 25(12):1170-2. PubMed ID: 16315335
    [No Abstract] [Full Text] [Related]

  • 14. Prenatal diagnosis of partial monosomy 3p and partial trisomy 2p in a fetus associated with shortening of the long bones and a single umbilical artery.
    Chen CP, Liu FF, Jan SW, Lin SP, Lan CC.
    Prenat Diagn; 1996 Mar 01; 16(3):270-5. PubMed ID: 8710784
    [Abstract] [Full Text] [Related]

  • 15. Molecular cytogenetic analysis of de novo partial monosomy 4p (4p16.2-->pter) and partial trisomy 8p (8p23.2-->pter).
    Chen CP, Lin SP, Chern SR, Lee CC, Chen LF, Chen YJ, Wang W.
    Genet Couns; 2006 Mar 01; 17(1):81-5. PubMed ID: 16719283
    [No Abstract] [Full Text] [Related]

  • 16. Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.
    Ausems MG, Schuil J, Van Raveswaaij-Arts C, De Pater JM.
    Genet Couns; 2004 Mar 01; 15(4):405-10. PubMed ID: 15658615
    [Abstract] [Full Text] [Related]

  • 17. Trisomy 3q25.1-qter and monosomy 8p23.1-pter in a patient: cytogenetic and molecular analysis with delineation of the phenotype.
    Zafra de la Rosa G, Venegas-Vega CA, Monroy N, Contreras-Bucio G, Friedrich U, Houman M, Saad A, Fernández P, Kofman-Alfaro S, Cervantes A.
    Am J Med Genet A; 2005 Jul 30; 136(3):259-64. PubMed ID: 15957183
    [Abstract] [Full Text] [Related]

  • 18. A de novo subtelomeric monosomy 11q (11q24.2-qter) and trisomy 20q (20q13.3-qter) in a girl with findings compatible with Jacobsen syndrome: case report and review.
    Courtens W, Wauters J, Wojciechowski M, Reyniers E, Scheers S, van Luijk R, Rooms L, Kooy F, Wuyts W.
    Clin Dysmorphol; 2007 Oct 30; 16(4):231-9. PubMed ID: 17786114
    [Abstract] [Full Text] [Related]

  • 19. Corpus callosum agenesis in trisomy 8p11.23 and monosomy 4q34 because of maternal translocation.
    Işik U, Başaran S, Dehgan T, Apak M.
    Pediatr Neurol; 2008 Jul 30; 39(1):55-7. PubMed ID: 18555175
    [Abstract] [Full Text] [Related]

  • 20. Virilization of the external genitalia and severe mental retardation in a girl with an unbalanced translocation 1;18.
    de Pater JM, Poot M, Beemer FA, Bijlsma JB, Hack WW, Van Dam WM, Eleveld MJ, Loneus WH, Engelen JJ.
    Eur J Med Genet; 2006 Jul 30; 49(1):19-27. PubMed ID: 16473306
    [Abstract] [Full Text] [Related]

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