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Journal Abstract Search

242 related items for PubMed ID: 10434120

  • 1. Formation of supernumerary euchromatic short arm isochromosomes: parent and cell stage of origin in new cases and review of the literature.
    Eggermann T, Schubert R, Engels H, Apacik C, Stengel-Rutkowski S, Haefliger C, Emiliani V, Ricagni C, Schwanitz G.
    Ann Genet; 1999; 42(2):75-80. PubMed ID: 10434120
    [Abstract] [Full Text] [Related]

  • 2. Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation.
    Dutly F, Balmer D, Baumer A, Binkert F, Schinzel A.
    Eur J Hum Genet; 1998; 6(2):140-4. PubMed ID: 9781058
    [Abstract] [Full Text] [Related]

  • 3. New case of mosaic tetrasomy 9p with additional neurometabolic findings.
    Eggermann T, Rossier E, Theurer-Mainka U, Backsch C, Klein-Vogler U, Enders H, Kaiser P.
    Am J Med Genet; 1998 Feb 17; 75(5):530-3. PubMed ID: 9489799
    [Abstract] [Full Text] [Related]

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  • 5. Initial maternal meiotic I error leading to the formation of a maternal i(2q) and a paternal i(2p) in a healthy male.
    Baumer A, Basaran S, Taralczak M, Cefle K, Ozturk S, Palanduz S, Schinzel A.
    Cytogenet Genome Res; 2007 Feb 17; 118(1):38-41. PubMed ID: 17901698
    [Abstract] [Full Text] [Related]

  • 6. Prenatal detection of trisomy 18 caused by isochromosome 18p and 18q formation.
    van den Berg C, Pijpers L, Halley DJ, Opstal DV, Los FJ.
    Am J Med Genet; 1999 Sep 10; 86(2):151-5. PubMed ID: 10449651
    [Abstract] [Full Text] [Related]

  • 7. Identification of autosomal supernumerary chromosome markers (SMCs) by fluorescent in situ hybridization (FISH).
    Kolialexi A, Kitsiou S, Fryssira H, Sofocleous C, Kouvidi E, Tsangaris GT, Salavoura K, Mavrou A.
    In Vivo; 2006 Sep 10; 20(4):473-8. PubMed ID: 16900777
    [Abstract] [Full Text] [Related]

  • 8. Parental origin of the isochromosome 12p in Pallister-Killian syndrome: molecular analysis of one patient and review of the reported cases.
    Struthers JL, Cuthbert CD, Khalifa MM.
    Am J Med Genet; 1999 May 21; 84(2):111-5. PubMed ID: 10323734
    [Abstract] [Full Text] [Related]

  • 9. DNA studies of mono- and pseudodicentric isochromosomes 18q.
    Bugge M, Brandt CA, Petersen MB.
    Am J Med Genet A; 2004 Jun 15; 127A(3):230-3. PubMed ID: 15150771
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Origin of nondisjunction in trisomy 8 and trisomy 8 mosaicism.
    Karadima G, Bugge M, Nicolaidis P, Vassilopoulos D, Avramopoulos D, Grigoriadou M, Albrecht B, Passarge E, Annerén G, Blennow E, Clausen N, Galla-Voumvouraki A, Tsezou A, Kitsiou-Tzeli S, Hahnemann JM, Hertz JM, Houge G, Kuklík M, Macek M, Lacombe D, Miller K, Moncla A, López Pajares I, Patsalis PC, Petersen MB.
    Eur J Hum Genet; 1998 May 15; 6(5):432-8. PubMed ID: 9801867
    [Abstract] [Full Text] [Related]

  • 12. Tetrasomy 18p caused by paternal meiotic nondisjunction.
    Eggermann T, Engels H, Apacik C, Moskalonek B, Müller-Navia J, Schwanitz G, Stengel-Rutkowski S.
    Eur J Hum Genet; 1997 May 15; 5(3):175-7. PubMed ID: 9272743
    [No Abstract] [Full Text] [Related]

  • 13. Complex and segmental uniparental disomy updated.
    Kotzot D.
    J Med Genet; 2008 Sep 15; 45(9):545-56. PubMed ID: 18524837
    [Abstract] [Full Text] [Related]

  • 14. Characterization of a maize isochromosome 8S*8S.
    Yu W, Han F, Kato A, Birchler JA.
    Genome; 2006 Jun 15; 49(6):700-6. PubMed ID: 16936849
    [Abstract] [Full Text] [Related]

  • 15. Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46, XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome.
    Kotzot D, Schinzel A.
    Eur J Hum Genet; 2000 Sep 15; 8(9):709-12. PubMed ID: 10980577
    [Abstract] [Full Text] [Related]

  • 16. Tetrasomy 9p mosaicism associated with a normal phenotype in two cases.
    Papoulidis I, Kontodiou M, Tzimina M, Saitis I, Hamid AB, Klein E, Kosyakova N, Kordass U, Kunz J, Siomou E, Nicolaides P, Orru S, Thomaidis L, Liehr T, Petersen MB, Manolakos E.
    Cytogenet Genome Res; 2012 Sep 15; 136(4):237-41. PubMed ID: 22487875
    [Abstract] [Full Text] [Related]

  • 17. De novo isochromosome 18p in a female dysmorphic child.
    Ramegowda S, Gawde HM, Hyderi A, Savitha MR, Patel ZM, Krishnamurthy B, Ramachandra NB.
    J Appl Genet; 2006 Sep 15; 47(4):397-401. PubMed ID: 17132906
    [Abstract] [Full Text] [Related]

  • 18. Post-zygotic origin of isochromosome 12p.
    de Ravel TJ, Keymolen K, van Assche E, Wittevronghel I, Moerman P, Salden I, Matthijs G, Fryns JP, Vermeesch JR.
    Prenat Diagn; 2004 Dec 15; 24(12):984-8. PubMed ID: 15614858
    [Abstract] [Full Text] [Related]

  • 19. Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review.
    Grass FS, Parke JC, Kirkman HN, Christensen V, Roddey OF, Wade RV, Knutson C, Spence JE.
    Am J Med Genet; 1993 Nov 01; 47(6):812-6. PubMed ID: 7506483
    [Abstract] [Full Text] [Related]

  • 20. Parental origin of the extra chromosome 18 in Edwards syndrome.
    Ramesh KH, Verma RS.
    Ann Genet; 1996 Nov 01; 39(2):110-2. PubMed ID: 8766143
    [Abstract] [Full Text] [Related]

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