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Volumn 130, Issue 4, 2004, Pages 415-417

Association of anterior glottic webs with velocardiofacial syndrome (chromosome 22q11.2 deletion)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 22; CHROMOSOME DELETION; CLINICAL ARTICLE; CLINICAL FEATURE; ENDOSCOPY; FAMILY; GENETIC ANALYSIS; GLOTTIS; HUMAN; VELOCARDIOFACIAL SYNDROME;

EID: 1942542333     PISSN: 01945998     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.otohns.2003.12.014     Document Type: Article
Times cited : (78)

References (18)
  • 1
    • 16944364251 scopus 로고    scopus 로고
    • Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients
    • Carlson C, Sirotkin H, Pandita R, et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 1997;61:620-9.
    • (1997) Am J Hum Genet , vol.61 , pp. 620-629
    • Carlson, C.1    Sirotkin, H.2    Pandita, R.3
  • 2
    • 0032476176 scopus 로고    scopus 로고
    • The velo-cardio-facial syndrome: The otorhinolaryngeal manifestations and implications
    • Vantrappen G, Rommel N, Cremers CW, et al. The velo-cardio-facial syndrome: the otorhinolaryngeal manifestations and implications. Int J Pediatr Otorhinolaryngol 1998;45:133-41.
    • (1998) Int J Pediatr Otorhinolaryngol , vol.45 , pp. 133-141
    • Vantrappen, G.1    Rommel, N.2    Cremers, C.W.3
  • 4
    • 0017821181 scopus 로고
    • A new syndrome involving cleft palate cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome
    • Shprintzen RJ, Goldberg RB, Lewin ML, et al. A new syndrome involving cleft palate cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J 1978;15:56-62.
    • (1978) Cleft Palate J , vol.15 , pp. 56-62
    • Shprintzen, R.J.1    Goldberg, R.B.2    Lewin, M.L.3
  • 5
    • 0031132215 scopus 로고    scopus 로고
    • Chromosome 22q11 deletion syndrome: An update and review for the primary pediatrician
    • Thomas JA, Graham JM Jr. Chromosome 22q11 deletion syndrome: an update and review for the primary pediatrician. Clin Pediatr 1997;36:253-66.
    • (1997) Clin Pediatr , vol.36 , pp. 253-266
    • Thomas, J.A.1    Graham Jr., J.M.2
  • 6
    • 0029849619 scopus 로고    scopus 로고
    • Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a review of the literature
    • Leana-Cox J, Pangkanon S, Eanet KR, et al. Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: report of five families with a review of the literature. Am J Med Genet 1996;65:309-16.
    • (1996) Am J Med Genet , vol.65 , pp. 309-316
    • Leana-Cox, J.1    Pangkanon, S.2    Eanet, K.R.3
  • 7
    • 0035196538 scopus 로고    scopus 로고
    • 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes
    • Cuneo BF. 22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 2001;13:465-72.
    • (2001) Curr Opin Pediatr , vol.13 , pp. 465-472
    • Cuneo, B.F.1
  • 8
    • 0026750771 scopus 로고
    • A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11
    • Driscoll DA, Budarf ML, Emanuel BS. A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992;50:924-33.
    • (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 22
    • Burn J, Takao A, Wilson D, et al. Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22. J Med Genet 1993;30:822-4.
    • (1993) J Med Genet , vol.30 , pp. 822-824
    • Burn, J.1    Takao, A.2    Wilson, D.3
  • 11
    • 0035746391 scopus 로고    scopus 로고
    • Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISH-ing net!
    • McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISH-ing net! Genet Med 2001;3:23-9.
    • (2001) Genet Med , vol.3 , pp. 23-29
    • McDonald-McGinn, D.M.1    Tonnesen, M.K.2    Laufer-Cahana, A.3
  • 12
    • 0030444261 scopus 로고    scopus 로고
    • Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations
    • Ravnan JB, Chen E, Golabi M, et al. Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genet 1996;66:250-6.
    • (1996) Am J Med Genet , vol.66 , pp. 250-256
    • Ravnan, J.B.1    Chen, E.2    Golabi, M.3
  • 13
    • 0030897855 scopus 로고    scopus 로고
    • Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients
    • Fokstuen S, Bottani A, Medeiros PF, et al. Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: report of three patients. Am J Med Genet 1997;70:130-3.
    • (1997) Am J Med Genet , vol.70 , pp. 130-133
    • Fokstuen, S.1    Bottani, A.2    Medeiros, P.F.3
  • 15
    • 0032539499 scopus 로고    scopus 로고
    • Subglottic web in a mother and son with 22q11.2 deletion
    • Marble M, Morava E, Tsien F, et al. Subglottic web in a mother and son with 22q11.2 deletion. Am J Med Genet 1998;75:537.
    • (1998) Am J Med Genet , vol.75 , pp. 537
    • Marble, M.1    Morava, E.2    Tsien, F.3
  • 16
    • 0034791061 scopus 로고    scopus 로고
    • Phenotypic variability of the cat eye syndrome. Case report and review of the literature
    • Rosias PR, Sijstermans JM, Theunissen PM, et al. Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns 2001;12:273-82.
    • (2001) Genet Couns , vol.12 , pp. 273-282
    • Rosias, P.R.1    Sijstermans, J.M.2    Theunissen, P.M.3
  • 17
    • 0017755340 scopus 로고
    • Cat eye syndrome. Partial trisomy 22 due to translocation in the mother
    • Bofinger MK, Soukup SW. Cat eye syndrome. Partial trisomy 22 due to translocation in the mother. Am J Dis Child 1977;131:893-7.
    • (1977) Am J Dis Child , vol.131 , pp. 893-897
    • Bofinger, M.K.1    Soukup, S.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.