메뉴 건너뛰기




Volumn 61, Issue 2, 2002, Pages 135-138

A CGH study of 27 patients with CHARGE association

Author keywords

CHARGE association; Comparative genomic hybridization (CGH)

Indexed keywords

ARTICLE; CHOANA ATRESIA; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 4; CHROMOSOME TRANSLOCATION 6; CHROMOSOME TRANSLOCATION 9; CLINICAL ARTICLE; COHORT ANALYSIS; COLOBOMA; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL MALFORMATION; DIAGNOSTIC TEST; DISEASE ASSOCIATION; EAR MALFORMATION; GENE LOCUS; GENETIC ASSOCIATION; GENITAL MALFORMATION; GROWTH RETARDATION; HEARING IMPAIRMENT; HEART DISEASE; HUMAN; KARYOTYPE; PRIORITY JOURNAL; SYNDROME CHARGE;

EID: 0036488109     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.610208.x     Document Type: Article
Times cited : (29)

References (25)
  • 1
    • 0018348787 scopus 로고
    • Choanal atresia and associated multiple anomalies
    • Hall BD. Choanal atresia and associated multiple anomalies. J Pediatr, 1979: 95: 395-398.
    • (1979) J. Pediatr. , vol.95 , pp. 395-398
    • Hall, B.D.1
  • 2
    • 0019425377 scopus 로고
    • Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association
    • Pagon RA, Graham JM Jr, Zonana J, Yong SL. Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association. J Pediatr, 1981: 99: 223-227.
    • (1981) J. Pediatr. , vol.99 , pp. 223-227
    • Pagon, R.A.1    Graham J.M., Jr.2    Zonana, J.3    Yong, S.L.4
  • 6
    • 0035281648 scopus 로고    scopus 로고
    • A recognizable syndrome within CHARGE association: Hall-Hittner syndrome
    • Graham JM Jr. A recognizable syndrome within CHARGE association: Hall-Hittner syndrome. Am J Med Genet, 2001: 99: 120-123.
    • (2001) Am. J. Med. Genet. , vol.99 , pp. 120-123
    • Graham J.M., Jr.1
  • 7
    • 0003592020 scopus 로고
    • An international system for human cytogenetic nomenclature (ISCN)
    • Karger., ed. Karger, USA
    • Mitelman. An international system for human cytogenetic nomenclature (ISCN). In: Karger., ed. Karger, 1995, USA. 76.
    • (1995) , pp. 76
    • Mitelman, A.1
  • 9
    • 0026495364 scopus 로고
    • Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors
    • Kallioniemi A, Kallioniemi OP, Sudar D, Rutovitz D, Gray JW, Waldman F et al. Comparative genomic hybridization for molecular cytogenetic analysis of solid tumors. Science, 1992: 258: 818-821.
    • (1992) Science , vol.258 , pp. 818-821
    • Kallioniemi, A.1    Kallioniemi, O.P.2    Sudar, D.3    Rutovitz, D.4    Gray, J.W.5    Waldman, F.6
  • 10
    • 0031791316 scopus 로고    scopus 로고
    • Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities
    • Lapierre JM, Cacheux V, Collot N, Da Silva F, Hervy N, Rivet D et al. Comparison of comparative genomic hybridization with conventional karyotype and classical fluorescence in situ hybridization for prenatal and postnatal diagnosis of unbalanced chromosome abnormalities. Ann Genet, 1998: 41: 133-140.
    • (1998) Ann. Genet. , vol.41 , pp. 133-140
    • Lapierre, J.M.1    Cacheux, V.2    Collot, N.3    Da Silva, F.4    Hervy, N.5    Rivet, D.6
  • 11
    • 0028330771 scopus 로고
    • t (12; 21): A new recurrent translocation in acute lymphoblastic leukemia
    • Romana SP, Le Coniat M, Berger R. t (12; 21): a new recurrent translocation in acute lymphoblastic leukemia. Genes Chromosomes Cancer, 1994: 9: 186-191.
    • (1994) Genes Chromosomes Cancer , vol.9 , pp. 186-191
    • Romana, S.P.1    Le Coniat, M.2    Berger, R.3
  • 12
    • 0032706534 scopus 로고    scopus 로고
    • CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19; 21) (q13.1; q22.3)
    • De Krijger RR, Mooy CM, Van Hemel JO, Sulkers EJ, Kros JM, Bartelings MM et al. CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19; 21) (q13.1; q22.3). Pediatr Dev Pathol, 1999: 2: 577-581.
    • (1999) Pediatr. Dev. Pathol. , vol.2 , pp. 577-581
    • De Krijger, R.R.1    Mooy, C.M.2    Van Hemel, J.O.3    Sulkers, E.J.4    Kros, J.M.5    Bartelings, M.M.6
  • 13
    • 0031799613 scopus 로고    scopus 로고
    • Deletion in chromosome region 22q11 in a child with CHARGE association
    • Devriendt K, Swillen A, Fryns JP. Deletion in chromosome region 22q11 in a child with CHARGE association. Clin Genet, 1998: 53: 408-410.
    • (1998) Clin. Genet. , vol.53 , pp. 408-410
    • Devriendt, K.1    Swillen, A.2    Fryns, J.P.3
  • 15
    • 0034543145 scopus 로고    scopus 로고
    • CHARGE association in a child with de Novo chromosomal aberration 46, X,der (X) t (X; 2) (p22.1; q33) detected by spectral karyotyping
    • Year?
    • Lev D, Nakar O, Bar-Am I, Zudik A, Watemberg N, Finkelstein S et al. CHARGE association in a child with de Novo chromosomal aberration 46, X,der (X) t (X; 2) (p22.1; q33) detected by spectral karyotyping. J Medical Genet, Year?: 37: E47.
    • J. Medical Genet. , vol.37
    • Lev, D.1    Nakar, O.2    Bar-Am, I.3    Zudik, A.4    Watemberg, N.5    Finkelstein, S.6
  • 17
    • 0031005946 scopus 로고    scopus 로고
    • A patient with interstitial deletion of the short arm of chromosome 3 (pter - >p21.2: p12 - >qter) and a CHARGE-like phenotype
    • Wieczorek D, Bolt J, Schwechheimer K, Gillessen-Kaesbach G. A patient with interstitial deletion of the short arm of chromosome 3 (pter - >p21.2: p12 - >qter) and a CHARGE-like phenotype. Am J Med Genet, 1997: 69: 413-417.
    • (1997) Am. J. Med. Genet. , vol.69 , pp. 413-417
    • Wieczorek, D.1    Bolt, J.2    Schwechheimer, K.3    Gillessen-Kaesbach, G.4
  • 18
    • 0025968760 scopus 로고
    • Balanced t (6;8) (6p8p; 6q8q) and the CHARGE association
    • Hurst JA, Meinecke P, Baraitser M. Balanced t (6;8) (6p8p; 6q8q) and the CHARGE association. J Med Genet, 1991: 28: 54-55.
    • (1991) J. Med. Genet. , vol.28 , pp. 54-55
    • Hurst, J.A.1    Meinecke, P.2    Baraitser, M.3
  • 19
    • 0035281524 scopus 로고    scopus 로고
    • 2001 CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t (2;7) (p14; q21.11)
    • Martin DM, Sheldon S, Gorski JL 2001 CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t (2;7) (p14; q21.11). Am J Med Genet, 2000: 99: 115-119.
    • (2000) Am. J. Med. Genet. , vol.99 , pp. 115-119
    • Martin, D.M.1    Sheldon, S.2    Gorski, J.L.3
  • 22
    • 0031741131 scopus 로고    scopus 로고
    • A further case of choanal atresia in the deletion (9p) syndrome
    • [letter]
    • Shashi V, Berry D, Stamper TH, Pettenati M. A further case of choanal atresia in the deletion (9p) syndrome [letter]. Am J Med Genet, 1998: 80: 440.
    • (1998) Am. J. Med. Genet. , vol.80 , pp. 440
    • Shashi, V.1    Berry, D.2    Stamper, T.H.3    Pettenati, M.4
  • 23
    • 0028011886 scopus 로고
    • Choanal atresia in a patient with the deletion (9p) syndrome
    • Shashi V, Golden WL, Fryburg JS. Choanal atresia in a patient with the deletion (9p) syndrome. Am J Med Genet, 1994: 49: 88-90.
    • (1994) Am. J. Med. Genet. , vol.49 , pp. 88-90
    • Shashi, V.1    Golden, W.L.2    Fryburg, J.S.3
  • 24
    • 0031002901 scopus 로고    scopus 로고
    • Epidemiology of choanal atresia with special reference to the CHARGE association
    • Harris J, Robert E, Kallen B. Epidemiology of choanal atresia with special reference to the CHARGE association. Pediatrics, 1997: 99: 363-367.
    • (1997) Pediatrics, , vol.99 , pp. 363-367
    • Harris, J.1    Robert, E.2    Kallen, B.3
  • 25
    • 85142954725 scopus 로고
    • Catalogue of unbalanced chromosome aberrations in man
    • Berlin, New York: de Gruyter
    • Schinzel A. Catalogue of unbalanced chromosome aberrations in man. Berlin, New York: de Gruyter, 1983: 254-259.
    • (1983) , pp. 254-259
    • Schinzel, A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.