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122 related items for PubMed ID: 22985727

  • 1. Complete monosomy mosaic of chromosome 21: case report and review of literature.
    Toral-Lopez J, Gonzalez-Huerta LM, Cuevas-Covarrubias SA.
    Gene; 2012 Dec 01; 510(2):175-9. PubMed ID: 22985727
    [Abstract] [Full Text] [Related]

  • 2. Atypical Down syndrome phenotype in a girl with 21;21 translocation trisomy.
    Tuysuz B, Yavuz A, Ozdil M, Caferler J, Ozon H.
    Genet Couns; 2010 Dec 01; 21(1):61-7. PubMed ID: 20420031
    [Abstract] [Full Text] [Related]

  • 3. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32-->qter) and partial monosomy 21q (21q22.2-->qter).
    Chen CP, Chern SR, Lin CC, Wang TH, Li YC, Hsieh LJ, Lee CC, Hua HM, Wang W.
    Prenat Diagn; 2006 Apr 01; 26(4):313-20. PubMed ID: 16506269
    [Abstract] [Full Text] [Related]

  • 4. Cytogenetic evaluation, fluorescence in situ hybridization, and molecular study of psu idic(X)(pter-->q22.3::q22.3-->pter) chromosome abberation in a girl with moderate growth retardation.
    Petković I, Barisić I, Bago R.
    Croat Med J; 2003 Aug 01; 44(4):494-9. PubMed ID: 12950157
    [Abstract] [Full Text] [Related]

  • 5. Presumptive monosomy 21 with neuronal migration disorder re-diagnosed as de novo unbalanced translocation t(18p;21q) by fluorescence in situ hybridisation.
    Alkan M, Ramelli GP, Hirsiger H, Keser I, Remonda L, Bühler EM, Moser H.
    Genet Couns; 2002 Aug 01; 13(2):151-6. PubMed ID: 12150215
    [Abstract] [Full Text] [Related]

  • 6. Cryptic mosaicism for monosomy 20 identified in renal tract cells.
    Stefanou EG, Crocker M, Boon A, Stewart H.
    Clin Genet; 2006 Sep 01; 70(3):228-32. PubMed ID: 16922725
    [Abstract] [Full Text] [Related]

  • 7. Mosaic trisomy 21/monosomy 21 in a living female infant.
    Nguyen HP, Riess A, Krüger M, Bauer P, Singer S, Schneider M, Enders H, Dufke A.
    Cytogenet Genome Res; 2009 Sep 01; 125(1):26-32. PubMed ID: 19617693
    [Abstract] [Full Text] [Related]

  • 8. Prenatal diagnosis of a fetus affected with Down syndrome and deletion 1p36 syndrome by fluorescence in situ hybridization and spectral karyotyping.
    Hsieh LJ, Hsieh TC, Yeh GP, Lin MI, Chen M, Wang BB.
    Fetal Diagn Ther; 2004 Sep 01; 19(4):356-60. PubMed ID: 15192296
    [Abstract] [Full Text] [Related]

  • 9. Primary amenorrhoea in a patient with mosaicism for monosomy X and a derivative X-chromosome.
    Gersak K, Writzl K, Veble A, Liehr T.
    Genet Couns; 2010 Sep 01; 21(3):335-42. PubMed ID: 20964126
    [Abstract] [Full Text] [Related]

  • 10. Fetal t(5p;21q) misdiagnosed as monosomy 21: a plea for in situ hybridization studies.
    Gill P, Uhrich S, Disteche C, Cheng E.
    Am J Med Genet; 1994 Oct 01; 52(4):416-8. PubMed ID: 7747753
    [Abstract] [Full Text] [Related]

  • 11. Coexistent mosaic monosomy 21 and fragile X syndrome in a mentally retarded male patient.
    Utine GE, Aktas D, Boduroğlu K, Alikasifoğlu M, Tunçbilek E.
    Genet Couns; 2007 Oct 01; 18(2):171-7. PubMed ID: 17710869
    [Abstract] [Full Text] [Related]

  • 12. Molecular cytogenetic characterization of ring chromosome 4 in a female having a chromosomally normal child.
    Lee MH, Park SY, Kim YM, Kim JM, Yoo KJ, Lee HH, Ryu HM.
    Cytogenet Genome Res; 2005 Oct 01; 111(2):175-8. PubMed ID: 16103661
    [Abstract] [Full Text] [Related]

  • 13. Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21.
    Cardoso LC, Moraes L, Camilo MJ, Mulatinho MV, Ramos H, Almeida JC, Llerena JC, Seuánez HN, Vargas FR.
    Eur J Med Genet; 2008 Oct 01; 51(6):588-97. PubMed ID: 18674646
    [Abstract] [Full Text] [Related]

  • 14. Mosaic rearrangement of chromosome 18: characterization by FISH mapping and DNA studies shows trisomy 18p and monosomy 18p both of paternal origin.
    Oner G, Jauch A, Eggermann T, Hardwick R, Kirsch S, Schiebel K, Rappold G, Robson L, Smith A.
    Am J Med Genet; 2000 May 15; 92(2):101-6. PubMed ID: 10797432
    [Abstract] [Full Text] [Related]

  • 15. A case of presumptive monosomy 21 re-diagnosed as unbalanced t(5p;21q) by FISH and review of literature.
    Iqbal MA, Ahmed MZ, Wu D, Sakati N.
    Am J Med Genet; 1997 May 16; 70(2):174-8. PubMed ID: 9128939
    [Abstract] [Full Text] [Related]

  • 16. Unbalanced 18q/21q translocation in a patient previously reported as monosomy 21.
    Riegel M, Hargreaves P, Baumer A, Guc-Scekic M, Ignjatovic M, Schinzel A.
    Eur J Med Genet; 2005 May 16; 48(2):167-74. PubMed ID: 16053908
    [Abstract] [Full Text] [Related]

  • 17. Mosaic isodicentric chromosome 18q: sixth report and review.
    Oudesluijs GG, Hulzebos CV, Sikkema-Raddatz B, Van Essen AJ.
    Genet Couns; 2006 May 16; 17(4):395-400. PubMed ID: 17375524
    [Abstract] [Full Text] [Related]

  • 18. Monosomy 20 mosaicism revealed by extensive karyotyping in blood and skin cells: case report and review of the literature.
    Hochstenbach R, Krijtenburg PJ, van der Veken LT, van der Smagt J, Roeleveld-Versteegh A, Visser G, Terhal P.
    Cytogenet Genome Res; 2014 May 16; 144(3):155-62. PubMed ID: 25502965
    [Abstract] [Full Text] [Related]

  • 19. Characterization of a Rare Mosaicism in Autosomal Translocation of t(5;21) Using Conventional Cytogenetics and FISH Methods.
    Omori Sarabi S, Karimzad Hagh J, Behrend C, Mohseni SB, Ansari Dezfouli M, Rashidi SK, Omrani MD.
    Iran Biomed J; 2020 Jan 16; 24(1):60-3. PubMed ID: 31301695
    [Abstract] [Full Text] [Related]

  • 20. Low-level mosaicism for both trisomy 15 and monosomy-X in amniotic fluid cells confirmed in fetal tissues.
    Hansson K, Poelma WM, Zondervan HA, Leschot NJ.
    Prenat Diagn; 1998 Sep 16; 18(9):975-8. PubMed ID: 9793985
    [Abstract] [Full Text] [Related]

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