메뉴 건너뛰기




Volumn 2, Issue 3, 1996, Pages 130-138

DiGeorge and velocardiofacial syndromes: The 22q11 deletion syndrome

Author keywords

22q11 deletion syndrome; DiGeorge syndrome; Velocardiofacial syndrome

Indexed keywords


EID: 0011115694     PISSN: 10804013     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-2779(1996)2:3<130::aid-mrdd3>3.3.co;2-w     Document Type: Article
Times cited : (14)

References (19)
  • 1
    • 0027379758 scopus 로고
    • Isolation of 3 zinc finger gene consistently deleted in DiGeorge syndrome
    • Aubry M, Demczuk S, Desmaze C et al. (1993): Isolation of 3 zinc finger gene consistently deleted in DiGeorge syndrome. Hum Mol Genet 2:1583-1587.
    • (1993) Hum Mol Genet , vol.2 , pp. 1583-1587
    • Aubry, M.1    Demczuk, S.2    Desmaze, C.3
  • 2
    • 0022868252 scopus 로고
    • DiGeorge syndrome and 22q11 rearrangements
    • Augusseau S, Jouk S, Jalbert P et al. (1986): DiGeorge syndrome and 22q11 rearrangements. Hum Genet 74:206.
    • (1986) Hum Genet , vol.74 , pp. 206
    • Augusseau, S.1    Jouk, S.2    Jalbert, P.3
  • 3
    • 0022595556 scopus 로고
    • Thymic deficiency in an infant with a chromosome t(18;22)t(q12.2;p11.2) pat rearrangement
    • Bowen P, Pabst H, Berry D et al. (1986): Thymic deficiency in an infant with a chromosome t(18;22)t(q12.2;p11.2) pat rearrangement. Clin Genet 29:174-177.
    • (1986) Clin Genet , vol.29 , pp. 174-177
    • Bowen, P.1    Pabst, H.2    Berry, D.3
  • 4
    • 0028998317 scopus 로고
    • Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene
    • Budarf ML, Collins J, Gong W et al. (1995a): Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene. Nat Genet 10:269-278.
    • (1995) Nat Genet , vol.10 , pp. 269-278
    • Budarf, M.L.1    Collins, J.2    Gong, W.3
  • 5
    • 0028926898 scopus 로고
    • Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2
    • Budarf ML, Konkle BA, Ludlow LB et al. (1995b): Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. Hum Mol Genet 4:763-766.
    • (1995) Hum Mol Genet , vol.4 , pp. 763-766
    • Budarf, M.L.1    Konkle, B.A.2    Ludlow, L.B.3
  • 6
    • 0027373693 scopus 로고
    • Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22
    • Burn J, Takao A, Wilson D et al. (1993): Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22. J Med Genet 30:822-824.
    • (1993) J Med Genet , vol.30 , pp. 822-824
    • Burn, J.1    Takao, A.2    Wilson, D.3
  • 7
    • 0026688328 scopus 로고
    • Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome
    • Carey AH, Kelley D, Halford S et al (1992): Molecular genetic study of the frequency of monosomy 22q11 in DiGeorge syndrome. Am J Hum Genet 51:964-970.
    • (1992) Am J Hum Genet , vol.51 , pp. 964-970
    • Carey, A.H.1    Kelley, D.2    Halford, S.3
  • 9
    • 0028147374 scopus 로고
    • Genomic scan for genes predisposing to schizophrenia
    • Coon H, Jensen S, Holik J et al. (1994): Genomic scan for genes predisposing to schizophrenia. Am J Med Genet 54:59-71.
    • (1994) Am J Med Genet , vol.54 , pp. 59-71
    • Coon, H.1    Jensen, S.2    Holik, J.3
  • 10
    • 0019511103 scopus 로고
    • Deletion in chromosome 22 can cause DiGeorge syndrome
    • de la Chapelle A, Herva R, Koivisto M et al. (1981): Deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet 57:253-256.
    • (1981) Hum Genet , vol.57 , pp. 253-256
    • De La Chapelle, A.1    Herva, R.2    Koivisto, M.3
  • 11
    • 0028958564 scopus 로고
    • Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity
    • Demczuk S, Aledo R, Zucman J et al. (1995): 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 4:551-558.
    • (1995) Hum Mol Genet , vol.4 , pp. 551-558
    • Demczuk, S.1    Aledo, R.2    Zucman, J.3
  • 12
    • 0027461868 scopus 로고
    • Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization
    • Desmaze C, Scambler P, Prieur M et al. (1993a): Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization. Hum Genet 90:663-665.
    • (1993) Hum Genet , vol.90 , pp. 663-665
    • Desmaze, C.1    Scambler, P.2    Prieur, M.3
  • 13
    • 0027359791 scopus 로고
    • Physical mapping by FISH of the DiGeorge critical region (DGCR): Involvement of the region in familial cases
    • Desmaze C, Prieur M, Amblard F et al. (1993b): Physical mapping by FISH of the DiGeorge critical region (DGCR): Involvement of the region in familial cases. Am J Hum Genet 53:1239-1249.
    • (1993) Am J Hum Genet , vol.53 , pp. 1239-1249
    • Desmaze, C.1    Prieur, M.2    Amblard, F.3
  • 14
    • 0000025287 scopus 로고
    • Discussion of paper by Couper et al. A new concept of the cellular basis of immunology
    • DiGeorge AM (1965): Discussion of paper by Couper et al. A new concept of the cellular basis of immunology. J Pediatr 67:907-908.
    • (1965) J Pediatr , vol.67 , pp. 907-908
    • DiGeorge, A.M.1
  • 15
    • 0026750771 scopus 로고
    • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
    • Driscoll DA, Budarf ML, Emanuel BS (1992a): A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am J Hum Genet 50:924-933.
    • (1992) Am J Hum Genet , vol.50 , pp. 924-933
    • Driscoll, D.A.1    Budarf, M.L.2    Emanuel, B.S.3
  • 16
    • 0026662962 scopus 로고
    • Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome
    • Driscoll DA, Spinner NB, Budarf ML et al. (1992b): Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am J Med Genet 44:261-268.
    • (1992) Am J Med Genet , vol.44 , pp. 261-268
    • Driscoll, D.A.1    Spinner, N.B.2    Budarf, M.L.3
  • 17
    • 0027370619 scopus 로고
    • Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling and prenatal diagnosis
    • Driscoll DA, Salvin J, Sellinger B et al. (1993): Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: Implications for genetic counselling 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
  • 18
    • 0000767017 scopus 로고
    • Familial 22q11 deletions: Phenotypic variability and determination of deletion boundaries by FISH
    • Driscoll DA, Li M, Chien P et al. (1995): Familial 22q11 deletions: Phenotypic variability and determination of deletion boundaries by FISH. Am J Hum Genet 57:A163.
    • (1995) Am J Hum Genet , vol.57
    • Driscoll, D.A.1    Li, M.2    Chien, P.3
  • 19
    • 0026489956 scopus 로고
    • Possible role for COMT in psychosis associated with velo-cardio-facial syndrome
    • Dunham I, Collins J, Wadey R et al. (1992): Possible role for COMT in psychosis associated with velo-cardio-facial syndrome. Lancet 340:1361-1362.
    • (1992) Lancet , vol.340 , pp. 1361-1362
    • Dunham, I.1    Collins, J.2    Wadey, R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.