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Volumn 72, Issue 2, 1997, Pages 210-215

Skeletal anomalies and deformities in patients with deletions of 22q11

Author keywords

22q11 deletion; Butterfly vertebrae; DiGeorge syndrome; Skeletal anomalies; Velocardiofacial syndrome

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 22Q; CHROMOSOME DELETION; DIGEORGE SYNDROME; FEMALE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; NEWBORN; POLYDACTYLY; PRESCHOOL CHILD; PRIORITY JOURNAL; RIB MALFORMATION; SCHOOL CHILD; SKELETON MALFORMATION; THORAX RADIOGRAPHY; VERTEBRA MALFORMATION;

EID: 0030868847     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19971017)72:2<210::AID-AJMG16>3.0.CO;2-Q     Document Type: Article
Times cited : (79)

References (26)
  • 1
    • 0028241951 scopus 로고
    • An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus
    • Bollag RJ, Siegfried Z, Cebra-Thomas JA, Garvey N, Davison EM, Silver LM (1994): An ancient family of embryonically expressed mouse genes sharing a conserved protein motif with the T locus. Nat Genet 7:383-389.
    • (1994) Nat Genet , vol.7 , pp. 383-389
    • Bollag, R.J.1    Siegfried, Z.2    Cebra-Thomas, J.A.3    Garvey, N.4    Davison, E.M.5    Silver, L.M.6
  • 4
    • 16944362790 scopus 로고    scopus 로고
    • Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene
    • abstract
    • Chieffo C, Garvey N, Roe B, Silvers L, Budarf ML (1996): Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene. Am J Hum Genet 59:A33 (abstract).
    • (1996) Am J Hum Genet , vol.59
    • Chieffo, C.1    Garvey, N.2    Roe, B.3    Silvers, L.4    Budarf, M.L.5
  • 5
    • 0038079164 scopus 로고
    • A significant variant in the ossification centers of the vertebral bodies
    • Cohen J, Currarino G, Neuhauser EBD (1956): A significant variant in the ossification centers of the vertebral bodies. Am J Roentgenol 76:469-475.
    • (1956) Am J Roentgenol , vol.76 , pp. 469-475
    • Cohen, J.1    Currarino, G.2    Neuhauser, E.B.D.3
  • 7
    • 33749700881 scopus 로고    scopus 로고
    • Intrafamilial variability in velocardiofacial syndrome (VCFS)/DiGeorge syndrome (DGS)/deletion 22q11.2 (del22q): Implications for recurrence risk counseling
    • abstract
    • Dinulos MB, Pagon RA, Sybert VP, Hudgins L (1996): Intrafamilial variability in velocardiofacial syndrome (VCFS)/DiGeorge syndrome (DGS)/deletion 22q11.2 (del22q): implications for recurrence risk counseling. Am J Hum Genet 59:A349 (abstract).
    • (1996) Am J Hum Genet , vol.59
    • Dinulos, M.B.1    Pagon, R.A.2    Sybert, V.P.3    Hudgins, L.4
  • 8
    • 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
  • 10
    • 84981800043 scopus 로고
    • Coronal cleft vertebra in foetuses of male sex
    • Fagerberg S (1963): Coronal cleft vertebra in foetuses of male sex. Acta Obstet Gynecol Scand 42:65-72.
    • (1963) Acta Obstet Gynecol Scand , vol.42 , pp. 65-72
    • Fagerberg, S.1
  • 11
    • 0029925662 scopus 로고    scopus 로고
    • Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome
    • Fryburg JS, Lin KY, Golden WL (1996): Chromosome 22q11.2 deletion in a boy with Opitz (G/BBB) syndrome. Am J Med Genet 62:274-275.
    • (1996) Am J Med Genet , vol.62 , pp. 274-275
    • Fryburg, J.S.1    Lin, K.Y.2    Golden, W.L.3
  • 13
    • 0027372307 scopus 로고
    • Velocardiofacial syndrome in a mother and daughter: Variability of the clinical phenotype
    • Holder SE, Winter RM, Kamath S, Scambler PJ (1993): Velocardiofacial syndrome in a mother and daughter: Variability of the clinical phenotype. J Med Genet 30:825-827.
    • (1993) J Med Genet , vol.30 , pp. 825-827
    • Holder, S.E.1    Winter, R.M.2    Kamath, S.3    Scambler, P.J.4
  • 14
    • 0022939117 scopus 로고
    • The DiGeorge anomaly as a developmental field defect
    • Lammer EJ, Opitz JM (1986): The DiGeorge anomaly as a developmental field defect. Am J Med Genet [Suppl] 2:113-127.
    • (1986) Am J Med Genet [Suppl] , vol.2 , pp. 113-127
    • Lammer, E.J.1    Opitz, J.M.2
  • 18
    • 0024587529 scopus 로고
    • Facial and immunological anomalies associated with tetralogy of Fallot
    • Radford DJ, Thong YH (1989): Facial and immunological anomalies associated with tetralogy of Fallot. Int J Cardiol 22:229-236.
    • (1989) Int J Cardiol , vol.22 , pp. 229-236
    • Radford, D.J.1    Thong, Y.H.2
  • 19
    • 0021247174 scopus 로고
    • Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission
    • Rohn RD, Leffell MS, Leadem P, Johnson D, Rubio T, Emanuel BS (1984): Familial third-fourth pharyngeal pouch syndrome with apparent autosomal dominant transmission. J Pediatr 105:47-51.
    • (1984) J Pediatr , vol.105 , pp. 47-51
    • Rohn, R.D.1    Leffell, M.S.2    Leadem, P.3    Johnson, D.4    Rubio, T.5    Emanuel, B.S.6
  • 23
    • 0030605434 scopus 로고    scopus 로고
    • Upper limb malformations in chromosome 22q11 deletions
    • Shalev SA, Dar H, Barel H, Borochowitz Z (1996): Upper limb malformations in chromosome 22q11 deletions (letter). Am J Med Genet 62:302.
    • (1996) Am J Med Genet , vol.62 , pp. 302
    • Shalev, S.A.1    Dar, H.2    Barel, H.3    Borochowitz, Z.4
  • 24
    • 33749724173 scopus 로고    scopus 로고
    • Discordance of hepatoblastoma in twins with velo-cardio-facial syndrome
    • abstract
    • Suslak L, Durcan J, Aviv H, Desposito F, Goldberg R (1996): Discordance of hepatoblastoma in twins with velo-cardio-facial syndrome. Am J Hum Genet 59:A106 (abstract).
    • (1996) Am J Hum Genet , vol.59
    • Suslak, L.1    Durcan, J.2    Aviv, H.3    Desposito, F.4    Goldberg, R.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.