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Journal Abstract Search

114 related items for PubMed ID: 17515164

  • 1. A 3-day-old infant with a congenital heart defect and hypocalcemia. 22q11 deletion syndrome.
    Angle B.
    Pediatr Ann; 2007 May; 36(5):275-6. PubMed ID: 17515164
    [No Abstract] [Full Text] [Related]

  • 2. [22q11.2 chromosome deletion and velo-cardio-facial syndrome in a patient with tetralogy of Fallot].
    Morava E, Masszi G, Czakó M, Tóth G, Melegh B, Kosztolányi G.
    Orv Hetil; 2000 Aug 20; 141(34):1873-5. PubMed ID: 11006712
    [Abstract] [Full Text] [Related]

  • 3. [Transient neonatal hypocalcemia. Onset Manifestation of the 22q11.2 deletion syndrome].
    Pusceddu M, Bertone A, Campra D, Pontoriero D, Guala A.
    Minerva Pediatr; 2002 Aug 20; 54(4):343-5. PubMed ID: 12131871
    [No Abstract] [Full Text] [Related]

  • 4. Transient congenital hypoparathyroidism and 22q11 deletion.
    García-García E, Camacho-Alonso J, Gómez-Rodríguez MJ, del Castillo E, Martínez-Aedo, López-Siguero JP.
    J Pediatr Endocrinol Metab; 2000 Jun 20; 13(6):659-61. PubMed ID: 10905392
    [Abstract] [Full Text] [Related]

  • 5. A novel atypical 22q11.2 distal deletion in father and son.
    Garcia-Miñaur S, Fantes J, Murray RS, Porteous ME, Strain L, Burns JE, Stephen J, Warner JP.
    J Med Genet; 2002 Oct 20; 39(10):E62. PubMed ID: 12362044
    [No Abstract] [Full Text] [Related]

  • 6. Towards earlier diagnosis of 22q11 deletions.
    Tobias ES, Morrison N, Whiteford ML, Tolmie JL.
    Arch Dis Child; 1999 Dec 20; 81(6):513-4. PubMed ID: 10569971
    [Abstract] [Full Text] [Related]

  • 7. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study.
    Webber SA, Hatchwell E, Barber JC, Daubeney PE, Crolla JA, Salmon AP, Keeton BR, Temple IK, Dennis NR.
    J Pediatr; 1996 Jul 20; 129(1):26-32. PubMed ID: 8757559
    [Abstract] [Full Text] [Related]

  • 8. Frontonasal malformation with tetralogy of Fallot associated with a submicroscopic deletion of 22q11.
    Stratton RF, Payne RM.
    Am J Med Genet; 1997 Mar 31; 69(3):287-9. PubMed ID: 9096758
    [Abstract] [Full Text] [Related]

  • 9. Tetralogy of Fallot with pulmonary atresia associated with chromosome 22q11 deletion.
    Momma K, Kondo C, Matsuoka R.
    J Am Coll Cardiol; 1996 Jan 31; 27(1):198-202. PubMed ID: 8522695
    [Abstract] [Full Text] [Related]

  • 10. Associated anomalies in asymmetric crying facies and 22q11 deletion.
    Akcakus M, Ozkul Y, Gunes T, Kurtoglu S, Cetin N, Kisaarslan AP, Dundar M.
    Genet Couns; 2003 Jan 31; 14(3):325-30. PubMed ID: 14577677
    [Abstract] [Full Text] [Related]

  • 11. [ Head and truncal abnormalities and secondary clinical aspects of 22q11 microdeletion. A series of 111 patients].
    Brevière GM, Croquette MF, Delobel B, Pellerin P, Rey C.
    Arch Pediatr; 1999 Jan 31; 6 Suppl 2():305s-307s. PubMed ID: 10370516
    [No Abstract] [Full Text] [Related]

  • 12. Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion.
    Akçakuş M, Güneş T, Kurtoğlu S, Cetin N, Ozkul Y, Narin N, Atabek ME, Uğraş R.
    Turk J Pediatr; 2004 Jan 31; 46(2):191-3. PubMed ID: 15214756
    [Abstract] [Full Text] [Related]

  • 13. Mosaic 22q11.2 deletion and tetralogy of Fallot with absent pulmonary valve: an unreported association.
    Prabhu S, Jenny B, James H, Provenzano S.
    World J Pediatr Congenit Heart Surg; 2015 Apr 31; 6(2):342-5. PubMed ID: 25870364
    [Abstract] [Full Text] [Related]

  • 14. Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome.
    Devriendt K, Van Schoubroeck D, Eyskens B, Vantrappen G, Swillen A, Gewillig M, Dumoulin M, Moerman P, Vandenberghe K, Fryns JP.
    Prenat Diagn; 1998 Jan 31; 18(1):68-72. PubMed ID: 9483643
    [Abstract] [Full Text] [Related]

  • 15. Chromosome 22q11 microdeletions in tetralogy of Fallot.
    Trainer AH, Morrison N, Dunlop A, Wilson N, Tolmie J.
    Arch Dis Child; 1996 Jan 31; 74(1):62-3. PubMed ID: 8660052
    [Abstract] [Full Text] [Related]

  • 16. Exclusion of 22q11 deletion in Noonan syndrome with tetralogy of Fallot.
    Digilio MC, Marino B, Giannotti A, Dallapiccola B.
    Am J Med Genet; 1996 Apr 24; 62(4):413-4. PubMed ID: 8723074
    [No Abstract] [Full Text] [Related]

  • 17. Velocardiofacial syndrome patients with a heterozygous chromosome 22q11 deletion have giant platelets.
    Van Geet C, Devriendt K, Eyskens B, Vermylen J, Hoylaerts MF.
    Pediatr Res; 1998 Oct 24; 44(4):607-11. PubMed ID: 9773854
    [Abstract] [Full Text] [Related]

  • 18. Tetralogy of Fallot with aortic valvular stenosis and deletion 22q11.
    Marino B, Mileto F, Digilio MC.
    Ann Thorac Surg; 2003 Jun 24; 75(6):2010-1; author reply 2011. PubMed ID: 12822669
    [No Abstract] [Full Text] [Related]

  • 19. Chromosome 22q11 deletions in patients with conotruncal heart defects.
    Khositseth A, Tocharoentanaphol C, Khowsathit P, Ruangdaraganon N.
    Pediatr Cardiol; 2005 Jun 24; 26(5):570-3. PubMed ID: 16132309
    [Abstract] [Full Text] [Related]

  • 20. Familial 22q11.2 deletion: an infant with interrupted aortic arch and DiGeorge syndrome delivered from by a mother with tetralogy of Fallot.
    Ito T, Okubo T, Sato H.
    Eur J Pediatr; 2002 Mar 24; 161(3):173-4. PubMed ID: 11998920
    [Abstract] [Full Text] [Related]

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