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Journal Abstract Search

154 related items for PubMed ID: 18286822

  • 1. Partial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonate.
    Senses DA, Silan F, Uzun H, Zafer C, Ucar-Cavusoglu E, Kocabay K.
    Genet Couns; 2007; 18(4):409-16. PubMed ID: 18286822
    [Abstract] [Full Text] [Related]

  • 2. Partial trisomy 4(q31qter) due to maternal 4;5 balanced translocation in a neonate.
    Senses DA, Silan F, Uzun H, Alagöz D, Zafer C, Kocabay K, Karaüzüm SB, Cetin Z.
    Genet Couns; 2007; 18(2):163-70. PubMed ID: 17710868
    [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; 17(4):435-40. PubMed ID: 17375530
    [Abstract] [Full Text] [Related]

  • 4. Partial trisomy 1 with congenital hydrocephalus and hypogammaglobulinemia: report of one case.
    Hwu WL, Kuo PL, Hung YT, Chien YH, Chu SY.
    Acta Paediatr Taiwan; 2004; 45(2):97-9. PubMed ID: 15335120
    [Abstract] [Full Text] [Related]

  • 5. Partial trisomy 1p (1p36.22-->pter) and partial monosomy 9p (9p22.2-->pter) associated with achalasia, flexion deformity of the fingers and epilepsy in a girl.
    Chen CP, Lin SP, Lee CC, Town DD, Wang W.
    Genet Couns; 2006; 17(3):301-6. PubMed ID: 17100198
    [Abstract] [Full Text] [Related]

  • 6. 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; 39(1):55-7. PubMed ID: 18555175
    [Abstract] [Full Text] [Related]

  • 7. Trisomy 1q41-qter and monosomy 3p26.3-pter in a family with a translocation (1;3): further delineation of the syndromes.
    Cervantes A, García-Delgado C, Fernández-Ramírez F, Galaz-Montoya C, Morales-Jiménez AB, Nieto-Martínez K, Gómez-Laguna L, Villa-Morales J, Quintana-Palma M, Berúmen J, Kofman S, Morán-Barroso VF.
    BMC Med Genomics; 2014 Sep 15; 7():55. PubMed ID: 25223409
    [Abstract] [Full Text] [Related]

  • 8. Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH.
    Utine EG, Alanay Y, Aktas D, Alikasifoglu M, Boduroglu K, Vermeesch J, Tuncbilek E, Fryns JP.
    Eur J Med Genet; 2008 Sep 15; 51(4):343-50. PubMed ID: 18440888
    [Abstract] [Full Text] [Related]

  • 9. 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 Sep 15; 18(1):9-16. PubMed ID: 17515297
    [Abstract] [Full Text] [Related]

  • 10. 47, XY, t(9pplus;11qplus) in a mlae infant with multiple malformations.
    Dinno ND, Silvey GL, Weisskopf B.
    Clin Genet; 1974 Sep 15; 6(2):125-31. PubMed ID: 4430152
    [No Abstract] [Full Text] [Related]

  • 11. Fetal ventriculomegaly, agenesis of the corpus callosum and chromosomal translocation--case report.
    Amato M, Howald H, von Muralt G.
    J Perinat Med; 1986 Sep 15; 14(4):271-4. PubMed ID: 3546665
    [Abstract] [Full Text] [Related]

  • 12. De novo interstitial duplication 4(q28.1q35) associated with choanal atresia.
    Lin S, Kirk EP, McKenzie F, Francis C, Shalhoub C, Turner AM.
    J Paediatr Child Health; 2004 Jul 15; 40(7):401-3. PubMed ID: 15228573
    [Abstract] [Full Text] [Related]

  • 13. Partial trisomy 1q (1q42.13-->qter) and partial monosomy 6q (6q27-->qter) in a girl with single median maxillary central incisor, corpus callosum dysgenesis and developmental delay.
    Chen CP, Lin SP, Su YN, Chern SR, Su JW, Lee CC, Wang W.
    Genet Couns; 2012 Jul 15; 23(4):447-55. PubMed ID: 23431743
    [Abstract] [Full Text] [Related]

  • 14. Pure duplication 1q41-qter: further delineation of trisomy 1q syndromes.
    Kulikowski LD, Bellucco FT, Nogueira SI, Christofolini DM, Smith Mde A, de Mello CB, Brunoni D, Melaragno MI.
    Am J Med Genet A; 2008 Oct 15; 146A(20):2663-7. PubMed ID: 18798309
    [Abstract] [Full Text] [Related]

  • 15. De novo 1q32q44 duplication and distal 1q trisomy syndrome.
    Nowaczyk MJ, Bayani J, Freeman V, Watts J, Squire J, Xu J.
    Am J Med Genet A; 2003 Jul 15; 120A(2):229-33. PubMed ID: 12833404
    [Abstract] [Full Text] [Related]

  • 16. De novo satellited 21q associated with corpus callosum dysgenesis, colpocephaly, a concealed penis, congenital heart defects, and developmental delay.
    Chen CP, Lin SP, Chern SR, Lee CC, Huang JK, Wang W, Liao YW.
    Genet Couns; 2004 Jul 15; 15(4):437-42. PubMed ID: 15658619
    [Abstract] [Full Text] [Related]

  • 17. Partial trisomy 1p due to paternal t(1;9) translocation in a family with recurrent miscarriages.
    Demirhan O, Tastemir D.
    Fertil Steril; 2006 Jul 15; 86(1):219.e15-9. PubMed ID: 16818035
    [Abstract] [Full Text] [Related]

  • 18. A rare occurrence of two large de novo duplications on 1q42-q44 and 9q21.12-q21.33.
    Wang J, Fu C, Zhang S, Luo J, Ouyang L, Xie B, Sun W, He S, Su J, Hu X, Fei D, Chen R, Fan X, Ou S, Chen S, Shen Y.
    Gene; 2016 Dec 05; 594(1):59-65. PubMed ID: 27591971
    [Abstract] [Full Text] [Related]

  • 19. A report of a patient with duplication of 7p13-->pter and deletion of 2p23-->pter due to a maternal 2p;7p translocation.
    Türköver BB, Sayar C, Toksoy G, Elçioğlu N.
    Turk J Pediatr; 2009 Dec 05; 51(2):174-9. PubMed ID: 19480332
    [Abstract] [Full Text] [Related]

  • 20. On the cavum septi pellucidi and the cavum Vergae.
    Oteruelo FT.
    Anat Anz; 1986 Dec 05; 162(4):271-8. PubMed ID: 3813041
    [Abstract] [Full Text] [Related]

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