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Volumn 120, Issue 6, 2007, Pages 837-845

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOL METHYLTRANSFERASE; PROLINE DEHYDROGENASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TBX1; UNCLASSIFIED DRUG;

EID: 33846401106     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-006-0242-x     Document Type: Article
Times cited : (48)

References (31)
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    • Bartsch O, Nemeckova M, Kocarek E, Wagner A, Puchmajerova A, Poppe M, Ounap K, Goetz P (2003) DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. Am J Med Genet A 117:1-5
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  • 8
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    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis
    • Driscoll DA, Salvin J, Sellinger B, Budarf ML, McDonald-McGinn DM, Zackai EH, Emanuel BS (1993) Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counseling and prenatal diagnosis. J Med Genet 30:813-817
    • (1993) J Med Genet , vol.30 , pp. 813-817
    • Driscoll, D.A.1    Salvin, J.2    Sellinger, B.3    Budarf, M.L.4    McDonald-McGinn, D.M.5    Zackai, E.H.6    Emanuel, B.S.7
  • 9
    • 29744455342 scopus 로고    scopus 로고
    • Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome
    • Guris DL, Duester G, Papaioannou VE, Imamoto A (2006) Dose-dependent interaction of Tbx1 and Crkl and locally aberrant RA signaling in a model of del22q11 syndrome. Dev Cell 10:81-92
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    • Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome
    • Levy A, Demczuk S, Aurias A, Depetris D, Mattei MG, Philip N (1995) Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome. Hum Mol Genet 4:2417-2419
    • (1995) Hum Mol Genet , vol.4 , pp. 2417-2419
    • Levy, A.1    Demczuk, S.2    Aurias, A.3    Depetris, D.4    Mattei, M.G.5    Philip, N.6
  • 15
    • 0035514706 scopus 로고    scopus 로고
    • Chromosomal microdeletions: Dissecting del22q11 syndrome
    • Lindsay EA (2001) Chromosomal microdeletions: Dissecting del22q11 syndrome. Nat Rev Genet 2:858-868
    • (2001) Nat Rev Genet , vol.2 , pp. 858-868
    • Lindsay, E.A.1
  • 17
    • 0034967841 scopus 로고    scopus 로고
    • Molecular characterization of tetralogy of fallot within Digeorge critical region of the chromosome 22
    • Lu JH, Chung MY, Betau H, Chien HP, Lu JK (2001) Molecular characterization of tetralogy of fallot within Digeorge critical region of the chromosome 22. Pediatr Cardiol 22:279-284
    • (2001) Pediatr Cardiol , vol.22 , pp. 279-284
    • Lu, J.H.1    Chung, M.Y.2    Betau, H.3    Chien, H.P.4    Lu, J.K.5
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    • High rates of schizophrenia in adults with velo-cardio-facial syndrome
    • Murphy KC, Jones LA, Owen MJ (1999) High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry 56:940-945
    • (1999) Arch Gen Psychiatry , vol.56 , pp. 940-945
    • Murphy, K.C.1    Jones, L.A.2    Owen, M.J.3
  • 24
    • 0033362091 scopus 로고    scopus 로고
    • A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects
    • Saitta SC, McGrath JM, Mensch H, Shaikh TH, Zackai EH, Emanuel BS (1999) A 22q11.2 deletion that excludes UFD1L and CDC45L in a patient with conotruncal and craniofacial defects. Am J Hum Genet 65:562-566
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  • 26
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.