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494 related items for PubMed ID: 27300488

  • 1. Pre- and Postnatal Diagnosis of 10p14 Deletion and 22q11.2 Deletion Syndrome and Significance of Non-Cardiac Markers.
    Shetty M, Srikanth A, Kadandale J, Hegde S.
    Cytogenet Genome Res; 2016; 148(4):249-55. PubMed ID: 27300488
    [Abstract] [Full Text] [Related]

  • 2. Prenatal diagnosis and molecular cytogenetic characterization of chromosome 22q11.2 deletion syndrome associated with congenital heart defects.
    Kuo YL, Chen CP, Wang LK, Ko TM, Chang TY, Chern SR, Wu PS, Chen YT, Chang SY.
    Taiwan J Obstet Gynecol; 2014 Jun; 53(2):248-51. PubMed ID: 25017279
    [Abstract] [Full Text] [Related]

  • 3. Under-recognition of 22q11.2 deletion in adult Chinese patients with conotruncal anomalies: implications in transitional care.
    Liu AP, Chow PC, Lee PP, Mok GT, Tang WF, Lau ET, Lam ST, Chan KY, Kan AS, Chau AK, Cheung YF, Lau YL, Chung BH.
    Eur J Med Genet; 2014 Jun; 57(6):306-11. PubMed ID: 24721633
    [Abstract] [Full Text] [Related]

  • 4. DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion.
    Bartsch O, Nemecková M, Kocárek E, Wagner A, Puchmajerová A, Poppe M, Ounap K, Goetz P.
    Am J Med Genet A; 2003 Feb 15; 117A(1):1-5. PubMed ID: 12548732
    [Abstract] [Full Text] [Related]

  • 5. Molecular screening for 22Q11.2 deletion syndrome in patients with congenital heart disease.
    Huber J, Peres VC, de Castro AL, dos Santos TJ, da Fontoura Beltrão L, de Baumont AC, Cossio SL, Dalberto TP, Riegel M, Cañedo AD, Schaan BD, Pellanda LC.
    Pediatr Cardiol; 2014 Dec 15; 35(8):1356-62. PubMed ID: 24880467
    [Abstract] [Full Text] [Related]

  • 6. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
    Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, Nance M, Adzick NS, Zackai EH, McDonald-McGinn DM.
    Am J Med Genet A; 2017 Jan 15; 173(1):135-142. PubMed ID: 27682988
    [Abstract] [Full Text] [Related]

  • 7. Differences in speech and language abilities between children with 22q11.2 deletion syndrome and children with phenotypic features of 22q11.2 deletion syndrome but without microdeletion.
    Rakonjac M, Cuturilo G, Stevanovic M, Jelicic L, Subotic M, Jovanovic I, Drakulic D.
    Res Dev Disabil; 2016 Aug 15; 55():322-9. PubMed ID: 27235769
    [Abstract] [Full Text] [Related]

  • 8. A case of congenitally absent left internal carotid artery: vascular malformations in 22q11.2 deletion syndrome.
    Johnson MD, Gentry LR, Rice GM, Mount DL.
    Cleft Palate Craniofac J; 2010 May 15; 47(3):314-7. PubMed ID: 19860531
    [Abstract] [Full Text] [Related]

  • 9. Testing for 22q11 microdeletion in 146 fetuses with nuchal translucency above the 99th percentile and a normal karyotype.
    Lautrup CK, Kjaergaard S, Brøndum-Nielsen K, Fagerberg C, Hertz JM, Petersen OB, Jørgensen MW, Vogel I.
    Acta Obstet Gynecol Scand; 2008 May 15; 87(11):1252-5. PubMed ID: 18951212
    [Abstract] [Full Text] [Related]

  • 10. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci.
    Berend SA, Spikes AS, Kashork CD, Wu JM, Daw SC, Scambler PJ, Shaffer LG.
    Am J Med Genet; 2000 Apr 10; 91(4):313-7. PubMed ID: 10766989
    [Abstract] [Full Text] [Related]

  • 11. Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.
    Bretelle F, Beyer L, Pellissier MC, Missirian C, Sigaudy S, Gamerre M, D'Ercole C, Philip N.
    Eur J Med Genet; 2010 Apr 10; 53(6):367-70. PubMed ID: 20659598
    [Abstract] [Full Text] [Related]

  • 12. [Genetic and clinical characteristics of 22q11.2 deletion syndrome].
    Kozlova IuO, Zabnenkova VV, Shilova NV, Min'zhenkova ME, Antonenko VG, Kotlukova NP, Simonova LV, Kazanceva IA, Levchenko EG, Bombardirova TD, Zolotukhina TV, Poliakov AV.
    Genetika; 2014 May 10; 50(5):602-10. PubMed ID: 25715476
    [Abstract] [Full Text] [Related]

  • 13. Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
    Barry JC, Crowley TB, Jyonouchi S, Heimall J, Zackai EH, Sullivan KE, McDonald-McGinn DM.
    J Clin Immunol; 2017 Jul 10; 37(5):476-485. PubMed ID: 28540525
    [Abstract] [Full Text] [Related]

  • 14. [Congenital cardiovascular malformations and chromosome microdeletions in 22q11.2].
    Trost D, Engels H, Bauriedel G, Wiebe W, Schwanitz G.
    Dtsch Med Wochenschr; 1999 Jan 08; 124(1-2):3-7. PubMed ID: 9951451
    [Abstract] [Full Text] [Related]

  • 15. [Prenatal diagnosis of 22q11 microdeletion syndrome].
    Cai M, Huang H, Lin N, Guo N, Wu X, Su L, Xu L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr 10; 34(2):192-195. PubMed ID: 28397216
    [Abstract] [Full Text] [Related]

  • 16. A case of 22q11.2 deletion syndrome with right microphthalmia and left corneal staphyloma.
    Tarlan B, Kiratli H, Kılıç E, Utine E, Boduroğlu K.
    Ophthalmic Genet; 2014 Dec 10; 35(4):248-51. PubMed ID: 23834556
    [Abstract] [Full Text] [Related]

  • 17. Subtelomeric rearrangements and 22q11.2 deletion syndrome in anomalous growth-restricted fetuses with normal or balanced G-banded karyotype.
    Chen M, Hwu WL, Kuo SJ, Chen CP, Yin PL, Chang SP, Lee DJ, Chen TH, Wang BT, Lin CC.
    Ultrasound Obstet Gynecol; 2006 Dec 10; 28(7):939-43. PubMed ID: 17121426
    [Abstract] [Full Text] [Related]

  • 18. [Genotype and phenotype study of two patients with 22q11.2 deletion syndrome].
    Zhu H, Wang A, Zhang H, Ji C, Zhan X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct 10; 31(5):623-7. PubMed ID: 25297596
    [Abstract] [Full Text] [Related]

  • 19. Ocular findings in the chromosome 22q11.2 deletion syndrome.
    Forbes BJ, Binenbaum G, Edmond JC, DeLarato N, McDonald-McGinn DM, Zackai EH.
    J AAPOS; 2007 Apr 10; 11(2):179-82. PubMed ID: 17140829
    [Abstract] [Full Text] [Related]

  • 20. Association of airway abnormalities with 22q11.2 deletion syndrome.
    Sacca R, Zur KB, Crowley TB, Zackai EH, Valverde KD, McDonald-McGinn DM.
    Int J Pediatr Otorhinolaryngol; 2017 May 10; 96():11-14. PubMed ID: 28390597
    [Abstract] [Full Text] [Related]

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