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Volumn 4, Issue 12, 1995, Pages 2417-2419

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with digeorge syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 22Q; CHROMOSOME BREAKAGE; COSMID; DIGEORGE SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; METAPHASE; NEWBORN; PRIORITY JOURNAL;

EID: 0028869111     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/4.12.2417     Document Type: Note
Times cited : (57)

References (15)
  • 3
    • 0027328673 scopus 로고
    • Molecular cytogenetic characterization of the DiGeorge syndromeregion using fluorescence in situ hybridization
    • Lindsay, E. A., Halford, S., Wadey, R., Scambler, P.J. and Baldini, A.(1993) Molecular cytogenetic characterization of the DiGeorge syndromeregion using fluorescence in situ hybridization. Genomics 17, 403-407.
    • (1993) Genomics , vol.17 , pp. 403-407
    • Lindsay, E.A.1    Halford, S.2    Wadey, R.3    Scambler, P.J.4    Baldini, A.5
  • 5
    • 0028943334 scopus 로고
    • Submicroscopic deletions at 22qll.2: Variabilityof the clinical picture and delineation of a commonly deleted region
    • Lindsay, E. A., Greenberg F. Shaffer L.G., Shapira S.K., Scambler P.J.and Baldini A. (1995) Submicroscopic deletions at 22qll.2: variabilityof the clinical picture and delineation of a commonly deleted region. Am.J. Med. Genet. 56, 191-197.
    • (1995) Am.J. Med. Genet , vol.56 , pp. 191-197
    • Lindsay, E.A.1    Shaffer, F.L.G.2    Shapira, S.K.3    Scambler, P.J.4    Baldini, A.5
  • 9
    • 0028958564 scopus 로고
    • Cloning ofa balanced translocation breakpoint in the DiGeorge syndrome criticalregion and isolation of a novel potential adhesion receptor in its vicinity
    • Demczuk, S., Aledo, R., Zucman, J., Delattre, O., Desmaze, C., Dauphinot, L., Jalbert, P., Rouleau G., Thomas, G. and Aurias, A. (1995) Cloning ofa balanced translocation breakpoint in the DiGeorge syndrome criticalregion and isolation of a novel potential adhesion receptor in its vicinity.Hum. Mol. Genet. 4, 451-458.
    • (1995) Hum. Mol. Genet , vol.4 , pp. 451-458
    • Demczuk, S.1    Aledo, R.2    Zucman, J.3    Delattre, O.4    Desmaze, C.5    Dauphinot, L.6    Jalbert, P.7    Rouleau, G.8    Thomas, G.9    Aurias, A.10
  • 10
    • 0029038946 scopus 로고
    • A human homologue of the S. Cerivisiae H1R1 and H1R2 transcriptional repressors cloned from theDiGeorge syndrome critical region
    • Lamour, V., Lecluse, Y., Desmaze, C., Spector, M., Bodescot, M., Aurias, A., Osley, M.A. and Lipinski, M. (1995) A human homologue of the S. cerivisiae H1R1 and H1R2 transcriptional repressors cloned from theDiGeorge syndrome critical region. Hum. Mol. Genet. 4, 791-799.
    • (1995) Hum. Mol. Genet , vol.4 , pp. 791-799
    • Lamour, V.1    Lecluse, Y.2    Desmaze, C.3    Spector, M.4    Bodescot, M.5    Aurias, A.6    Osley, M.A.7    Lipinski, M.8
  • 11
    • 0029065469 scopus 로고
    • Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome
    • Wadey, R., Daw, S., Taylor, C., Alif, U., Kamath, S., Halford, S., O’Donnell, H., Wilson, D., Goodship, J., Bum, J. and Scambler, P. (1995) Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome. Hum. Mol. Genet. 4, 1027-1033.
    • (1995) Hum. Mol. Genet , vol.4 , pp. 1027-1033
    • Wadey, R.1    Daw, S.2    Taylor, C.3    Alif, U.4    Kamath, S.5    Halford, S.6    O’Donnell, H.7    Wilson, D.8    Goodship, J.9    Bum, J.10    Scambler, P.11


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.