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Journal Abstract Search

90 related items for PubMed ID: 11148159

  • 1. [Monosomy r(13). Report of a new case].
    Cuadrado Martín M, Boldova Aguar C, Carrasco Lorente S, Martínez Laborda S, López-Pisón J, Baldellou Vázquez A, Labarta Aizpún J, Marco Tello A, Rebage Moisés V.
    An Esp Pediatr; 2000 Dec; 53(6):592-5. PubMed ID: 11148159
    [Abstract] [Full Text] [Related]

  • 2. [A difficult cytogenetic diagnosis of 4p monosomy].
    Vittu G, Croquette MF, Boidein F, Cousin J.
    J Genet Hum; 1988 Jan; 36(1-2):75-82. PubMed ID: 3379382
    [Abstract] [Full Text] [Related]

  • 3. An unusual clinical characterization of a male with distal partial trisomy 1q42.1 and monosomy 4q35.1 and review of the literature.
    Wang CB, Lin SP, Chen CP, Chen YJ, Lee CC.
    Genet Couns; 2006 Jan; 17(4):435-40. PubMed ID: 17375530
    [Abstract] [Full Text] [Related]

  • 4. Distal 11q monosomy syndrome: a report of two Egyptian sibs with normal parental karyotypes confirmed by molecular cytogenetics.
    Afifi HH, Zaki MS, El-Gerzawy AM, Kayed HF.
    Genet Couns; 2008 Jan; 19(1):47-58. PubMed ID: 18564501
    [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 Jan; 13(2):151-6. PubMed ID: 12150215
    [Abstract] [Full Text] [Related]

  • 6. Ring chromosome 13 in an Omani infant boy with mental retardation and multiple congenital anomalies.
    Venugopalan P, Kenue RK.
    Saudi Med J; 2001 Sep; 22(9):800-3. PubMed ID: 11590457
    [Abstract] [Full Text] [Related]

  • 7. Monosomy 7 syndrome associated with congenital adrenal hypoplasia and male pseudohermaphroditism.
    Le SQ, Kutteh WH.
    Obstet Gynecol; 1996 May; 87(5 Pt 2):854-6. PubMed ID: 8677114
    [Abstract] [Full Text] [Related]

  • 8. A fourteen years follow-up of a case of partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of chromosome 12: clinical, cytogenetic and molecular observations.
    Vaglio A, Milunsky A, Huang XL, Quadrelli A, Mechoso B, Quadrelli R.
    Eur J Med Genet; 2007 May; 50(3):224-32. PubMed ID: 17329177
    [Abstract] [Full Text] [Related]

  • 9. Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies.
    Lorentz CP, Jalal SM, Thompson DM, Babovic-Vuksanovic D.
    Am J Med Genet; 2002 Jul 22; 111(1):61-7. PubMed ID: 12124737
    [Abstract] [Full Text] [Related]

  • 10. Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.
    Bregant L, Gersak K, Veble A.
    Genet Couns; 2005 Jul 22; 16(1):59-63. PubMed ID: 15844780
    [Abstract] [Full Text] [Related]

  • 11. [Causes of ambiguous external genitalia in neonates].
    Zdravković D, Milenković T, Sedlecki K, Guć-Sćekić M, Rajić V, Banićević M.
    Srp Arh Celok Lek; 2001 Jul 22; 129(3-4):57-60. PubMed ID: 11534268
    [Abstract] [Full Text] [Related]

  • 12. Ring chromosome 20 syndrome without deletions of the subtelomeric and CHRNA4--KCNQ2 genes loci.
    Elghezal H, Hannachi H, Mougou S, Kammoun H, Triki C, Saad A.
    Eur J Med Genet; 2007 Jul 22; 50(6):441-5. PubMed ID: 17851150
    [Abstract] [Full Text] [Related]

  • 13. Ring chromosome 13 in an infant with ambiguous genitalia.
    Sankar VH, Phadke SR.
    Indian Pediatr; 2006 Mar 22; 43(3):258-60. PubMed ID: 16585823
    [Abstract] [Full Text] [Related]

  • 14. Complete karyotype discrepancy between placental and fetal cells in a case of ring chromosome 18.
    Fischer W, Dermitzel A, Osmers R, Pruggmayer M.
    Prenat Diagn; 2001 Jun 22; 21(6):481-3. PubMed ID: 11438954
    [Abstract] [Full Text] [Related]

  • 15. Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18.
    Prabhakara K, Wyandt HE, Huang XL, Prasad KS, Ramadevi AR.
    Ann Genet; 2004 Jun 22; 47(3):297-303. PubMed ID: 15337476
    [Abstract] [Full Text] [Related]

  • 16. Monosomy 11Q: report of new phenotypic manifestations.
    Puvabanditsin S, Garrow E, Zia-Ullah MO, Supavekin S, Lianthanasarn P, Denev KI.
    Genet Couns; 2001 Jun 22; 12(3):283-6. PubMed ID: 11693793
    [Abstract] [Full Text] [Related]

  • 17. M-FISH applications in clinical genetics.
    Cetin Z, Berker Karaüzüm S, Yakut S, Mihçi E, Baumer A, Wey E, Taçoy S, Bağci G, Lüleci G.
    Genet Couns; 2005 Jun 22; 16(3):257-68. PubMed ID: 16259323
    [Abstract] [Full Text] [Related]

  • 18. Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies.
    Kulharya AS, Lovell CM, Flannery DB.
    Am J Med Genet; 2002 Dec 15; 113(4):367-70. PubMed ID: 12457409
    [Abstract] [Full Text] [Related]

  • 19. 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 Dec 15; 18(2):171-7. PubMed ID: 17710869
    [Abstract] [Full Text] [Related]

  • 20. 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 15; 16(4):231-9. PubMed ID: 17786114
    [Abstract] [Full Text] [Related]

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