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Journal Abstract Search

450 related items for PubMed ID: 23324155

  • 1. [Clinical features and molecular diagnosis of three patients with DiGeorge anomaly].
    Sun JQ, Wang LS, Qi CH, Ying WJ, Guo XH, Liu DR, Hui XY, Liu F, Cao Y, Luo FH, Wang XC.
    Zhonghua Er Ke Za Zhi; 2012 Dec; 50(12):944-7. PubMed ID: 23324155
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  • 2. CATCH 22 syndrome: report of 7 infants with follow-up data and review of the recent advancements in the genetic knowledge of the locus 22q11.
    Sergi C, Serpi M, Müller-Navia J, Schnabel PA, Hagl S, Otto HF, Ulmer HE.
    Pathologica; 1999 Jun; 91(3):166-72. PubMed ID: 10536461
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  • 3. DiGeorge syndrome with microdeletion of chromosome 22q11.2: report of one case.
    Wang JL, Chen SJ, Chung MY, Niu DM, Lin CY, Hwang BT, Lu JH.
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1997 Jun; 38(5):385-9. PubMed ID: 9401184
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  • 6. CATCH 22: deletion of locus 22q11 in velocardiofacial syndrome, DiGeorge anomaly, and nonsyndromic conotruncal defects.
    Hou JW, Wang JK, Tsai WY, Chou CC, Wang TR.
    J Formos Med Assoc; 1997 Jun; 96(6):419-23. PubMed ID: 9216164
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  • 10. Detection of 22q11.2 deletion among 139 patients with Di George/Velocardiofacial syndrome features.
    Kitsiou-Tzeli S, Kolialexi A, Fryssira H, Galla-Voumvouraki A, Salavoura K, Kanariou M, Tsangaris GT, Kanavakis E, Mavrou A.
    In Vivo; 2004 Jun; 18(5):603-8. PubMed ID: 15523900
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  • 11. CATCH 22 Syndrome.
    Yonehara Y, Nakatsuka T, Ichioka S, Sasaki N, Kobayashi T.
    J Craniofac Surg; 2002 Sep; 13(5):623-6. PubMed ID: 12218787
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  • 12. Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.
    Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J.
    Am J Med Genet; 1994 Oct 01; 52(4):445-9. PubMed ID: 7747757
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  • 13. [CATCH22 or 22q11 deletion syndrome. An underdiagnosed and misunderstood disease category with a variable clinical picture].
    Oskarsdóttir S, Fasth A, Belfrage M, Viggedal G, Persson C, Eriksson BO.
    Lakartidningen; 1999 Nov 03; 96(44):4789-93. PubMed ID: 10584540
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  • 14. DiGeorge anomaly in the absence of chromosome 22q11.2 deletion.
    Rope AF, Cragun DL, Saal HM, Hopkin RJ.
    J Pediatr; 2009 Oct 03; 155(4):560-5. PubMed ID: 19595366
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  • 16. Microsatellite DNA markers detects 95% of chromosome 22q11 deletions.
    Bonnet D, Cormier-Daire V, Kachaner J, Szezepanski I, Souillard P, Sidi D, Munnich A, Lyonnet S.
    Am J Med Genet; 1997 Jan 20; 68(2):182-4. PubMed ID: 9028455
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  • 17. Persistent low thymic activity and non-cardiac mortality in children with chromosome 22q11.2 microdeletion and partial DiGeorge syndrome.
    Eberle P, Berger C, Junge S, Dougoud S, Büchel EV, Riegel M, Schinzel A, Seger R, Güngör T.
    Clin Exp Immunol; 2009 Feb 20; 155(2):189-98. PubMed ID: 19040613
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  • 18. 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
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  • 19. "FISHed" out the diagnosis: A case of DiGeorge syndrome.
    Bajaj S, Thombare TS, Tullu MS, Agrawal M.
    J Postgrad Med; 2016 Jul 20; 62(2):118-23. PubMed ID: 26489877
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  • 20. Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2.
    Matsuoka R, Takao A, Kimura M, Imamura S, Kondo C, Joh-o K, Ikeda K, Nishibatake M, Ando M, Momma K.
    Am J Med Genet; 1994 Nov 15; 53(3):285-9. PubMed ID: 7856665
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