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Volumn 60, Issue 6, 1997, Pages 1544-1548

Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region [5]

Author keywords

[No Author keywords available]

Indexed keywords

CHROMOSOME 22Q; CONGENITAL HEART MALFORMATION; DIGEORGE SYNDROME; GENE DELETION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; LETTER; MOLECULAR CLONING; PHENOTYPE; PRIORITY JOURNAL;

EID: 0030960331     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0002-9297(07)64250-5     Document Type: Letter
Times cited : (51)

References (17)
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  • 2
    • 0027373693 scopus 로고
    • Conotruncal anomaly face syndrome is associated with the deletion within chromosome 22q11
    • J Burn A Takao DI Wilson I Cross K Momma R Wadey PJ Scambler Conotruncal anomaly face syndrome is associated with the deletion within chromosome 22q11 J Med Genet 30 1993 822 824
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  • 4
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    • Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity
    • S Demczuk R Aledo J Zucman O Delattre C Desmaze L Dauphinot P Jalbert Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity Hum Mol Genet 4 1995 551 558
    • (1995) Hum Mol Genet , vol.4 , pp. 551-558
    • Demczuk, S1    Aledo, R2    Zucman, J3    Delattre, O4    Desmaze, C5    Dauphinot, L6    Jalbert, P7
  • 5
    • 0026750771 scopus 로고
    • syndrome: consistent deletions and microdeletions of 22q11
    • DA Driscoll ML Budarf B Emanuel syndrome: consistent deletions and microdeletions of 22q11 Am J Hum Genet 50 1992 genetictiologyoriGeorg 924 933
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  • 7
    • 0029939504 scopus 로고    scopus 로고
    • A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11
    • W Gong BS Emanuel J Collins DH Kim Z Wang F Chen G Zhang A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11 Hum Mol Genet 5 1996 789 800
    • (1996) Hum Mol Genet , vol.5 , pp. 789-800
    • Gong, W1    Emanuel, BS2    Collins, J3    Kim, DH4    Wang, Z5    Chen, F6    Zhang, G7
  • 8
    • 0027731681 scopus 로고
    • Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease
    • S Halford R Wadey C Roberts SCM Daw JA Whiting H O'Donnell I Dunham Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease Hum Mol Genet 2 1993 2099 2107
    • (1993) Hum Mol Genet , vol.2 , pp. 2099-2107
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  • 9
    • 0029882855 scopus 로고    scopus 로고
    • Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region
    • H Kurahashi T Nakayama Y Osugi E Tsuda M Masuno K Imaizumi T Kamiya Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region Am J Hum Genet 58 1996 1377 1381
    • (1996) Am J Hum Genet , vol.58 , pp. 1377-1381
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  • 10
    • 0028869111 scopus 로고
    • Interstitial 22q11 deletion excluding the ADU breakpoint in a patient with DGS
    • A Levy S Demczuk A Aurias D Depetris MG Mattei N Philip Interstitial 22q11 deletion excluding the ADU breakpoint in a patient with DGS Hum Mol Genet 4 1995 2417 2418
    • (1995) Hum Mol Genet , vol.4 , pp. 2417-2418
    • Levy, A1    Demczuk, S2    Aurias, A3    Depetris, D4    Mattei, MG5    Philip, N6
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    • The velo-cardio-facial syndrome is associated with chromosome 22 deletions which encompass the DiGeorge syndrome locus
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  • 15
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    • Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.