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Volumn 113, Issue 4, 2002, Pages 346-350

Apparently unrelated cytogenetic abnormalities among 462 probands referred for the detection of del(22q) by FISH

Author keywords

ARSA deletion; Di George syndrome; Velocardiofacial syndrome

Indexed keywords

CEREBROSIDE SULFATASE;

EID: 0037114713     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10800     Document Type: Article
Times cited : (5)

References (29)
  • 1
    • 0032982031 scopus 로고    scopus 로고
    • Is the genetic basis of DiGeorge syndrome in HAND?
    • Baldini A. 1999. Is the genetic basis of DiGeorge syndrome in HAND? Nat Genet 21:246-247.
    • (1999) Nat Genet , vol.21 , pp. 246-247
    • Baldini, A.1
  • 3
    • 0019511103 scopus 로고
    • A deletion in chromosome 22 can cause DiGeorge syndrome
    • De la Chapelle A, Herva R, Koivisto M, Aula P. 1981. A 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    Aula, P.4
  • 6
    • 0031799613 scopus 로고    scopus 로고
    • Deletion in chromosome region 22q11 in a child with CHARGE association
    • Devriendt K, Swillen A, Fryns JP. 1998. Deletion in chromosome region 22q11 in a child with CHARGE association. Clin Genet 53:408-410.
    • (1998) Clin Genet , vol.53 , pp. 408-410
    • Devriendt, K.1    Swillen, A.2    Fryns, J.P.3
  • 7
    • 0026750771 scopus 로고
    • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
    • Driscoll DA, Budarf ML, Emanuel BS. 1992. 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
  • 9
    • 0027373693 scopus 로고
    • Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11
    • Goodship J. 1993. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11. J Med Genet 30:822-824.
    • (1993) J Med Genet , vol.30 , pp. 822-824
    • Goodship, J.1
  • 14
    • 0030612055 scopus 로고    scopus 로고
    • Idiopathic thrombocytopenic purpura in two mothers of children with Di George sequence: A new component manifestation of deletion 22q11?
    • Levy A, Michel G, Lemerrer M, Philip N. 1997. Idiopathic thrombocytopenic purpura in two mothers of children with Di George sequence: A new component manifestation of deletion 22q11? Am J Med Genet 69:356-359.
    • (1997) Am J Med Genet , vol.69 , pp. 356-359
    • Levy, A.1    Michel, G.2    Lemerrer, M.3    Philip, N.4
  • 18
    • 0030444261 scopus 로고    scopus 로고
    • Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations
    • Ravnan JB, Chen E, Golabi M, Lebo RV. 1996. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genet 66:250-256.
    • (1996) Am J Med Genet , vol.66 , pp. 250-256
    • Ravnan, J.B.1    Chen, E.2    Golabi, M.3    Lebo, R.V.4
  • 19
    • 0029963475 scopus 로고    scopus 로고
    • Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY,der(4)t(4;22)(p16.3q11.2)mat,-22
    • Reddy KS, Sulcova V, Siassi B. 1996. Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY,der(4)t(4;22)(p16.3q11.2)mat,-22. J Med Genet 33:852-855.
    • (1996) J Med Genet , vol.33 , pp. 852-855
    • Reddy, K.S.1    Sulcova, V.2    Siassi, B.3
  • 21
    • 0011821650 scopus 로고
    • DiGeorge syndrome and related birth defects
    • Scambler PJ. 1994. DiGeorge syndrome and related birth defects. Develop Biol 5:303-310.
    • (1994) Develop Biol , vol.5 , pp. 303-310
    • Scambler, P.J.1
  • 23
    • 0023245097 scopus 로고
    • Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome
    • Schwanitz G, Zerres K. 1987. Partial monosomy 22 as result of an X/22 translocation in a newborn with DiGeorge syndrome. Ann Genet 30:80-84.
    • (1987) Ann Genet , vol.30 , pp. 80-84
    • Schwanitz, G.1    Zerres, K.2
  • 24
    • 0028246223 scopus 로고
    • Velocardiofacial syndrome and DiGeorge sequence
    • Shprintzen RJ. 1994. Velocardiofacial syndrome and DiGeorge sequence. J Med Genet 31:423-424.
    • (1994) J Med Genet , vol.31 , pp. 423-424
    • Shprintzen, R.J.1
  • 25
    • 0033609920 scopus 로고    scopus 로고
    • Low frequency of inherited deletions of 22q11
    • Smith A, Robson L. 1999. Low frequency of inherited deletions of 22q11. Am J Med Genet 85:513-514.
    • (1999) Am J Med Genet , vol.85 , pp. 513-514
    • Smith, A.1    Robson, L.2
  • 26
    • 0034527015 scopus 로고    scopus 로고
    • Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome
    • Smith A, Jauch A, St Heaps L, Robson L, Kearney K. 2000. Unbalanced translocation t(15;22) in "severe" Prader-Willi syndrome. Ann Genet 43:125-130.
    • (2000) Ann Genet , vol.43 , pp. 125-130
    • Smith, A.1    Jauch, A.2    St. Heaps, L.3    Robson, L.4    Kearney, K.5
  • 27
    • 0031009068 scopus 로고    scopus 로고
    • Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS
    • Swillen A, Devriendt K, Legius E, Eyskens B, Dumoulin M, Gewillig M, Fryns JP. 1997. Intelligence and psychosocial adjustment in velocardiofacial syndrome: A study of 37 children and adolescents with VCFS. J Med Genet 34:453-458.
    • (1997) J Med Genet , vol.34 , pp. 453-458
    • Swillen, A.1    Devriendt, K.2    Legius, E.3    Eyskens, B.4    Dumoulin, M.5    Gewillig, M.6    Fryns, J.P.7
  • 28
    • 0033590681 scopus 로고    scopus 로고
    • Child with velocardiofacial syndrome and del(4)(q34.2): Another critical region with a velocardiofacial syndrome-like phenotype
    • Tsai CH, Van Dyke DL, Feldman GL. 1999. Child with velocardiofacial syndrome and del(4)(q34.2): Another critical region with a velocardiofacial syndrome-like phenotype. Am J Med Genet 82:336-339.
    • (1999) Am J Med Genet , vol.82 , pp. 336-339
    • Tsai, C.H.1    Van Dyke, D.L.2    Feldman, G.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.