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Volumn 176, Issue 4, 2004, Pages 564-569

Currarino syndrome: Variability of imaging findings in 22 moleculargenetically identified (HLXB9 mutation) patients from five families;Currarino-syndrom: Variabilität der bildgebenden befunde bei 22 molekulargenetisch identifizierten (HLXB9-mutation) patienten aus fünf familien

Author keywords

Constipation; Currarino syndrome; HLXB9 mutation; Imaging

Indexed keywords

ADOLESCENT; ADULT; ANORECTAL MALFORMATION; ARTICLE; CHILD; CLINICAL EXAMINATION; CURRARINO SYNDROME; DIAGNOSTIC IMAGING; FEMALE; GENE MUTATION; HUMAN; LIPOMA; MAJOR CLINICAL STUDY; MALE; MALFORMATION SYNDROME; MENINGOCELE; NUCLEAR MAGNETIC RESONANCE IMAGING; PELVIS TUMOR; PRIORITY JOURNAL; RECTUM FISTULA; TETHERED CORD SYNDROME; ANAL CANAL; COCCYGEAL BONE; COMPARATIVE STUDY; CONGENITAL MALFORMATION; CONSTIPATION; ECHOGRAPHY; GENETICS; INFANT; MULTIPLE MALFORMATION SYNDROME; MUTATION; PHENOTYPE; PRESCHOOL CHILD; RADIOGRAPHY; RECTUM; SACRUM; SYNDROME;

EID: 2442660437     PISSN: 14389029     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-812948     Document Type: Article
Times cited : (11)

References (19)
  • 1
    • 0019870232 scopus 로고
    • Triad of anorectal, sacral and presacral anomalies
    • Currarino G, Coln D, Votteler T. Triad of anorectal, sacral and presacral anomalies. AJR 1981; 137: 395-398
    • (1981) AJR , vol.137 , pp. 395-398
    • Currarino, G.1    Coln, D.2    Votteler, T.3
  • 2
    • 0021253655 scopus 로고
    • The Currarino triad: Complex of anorectal malformation, sacral bony abnormality, and presacral mass
    • Kirks DR, Merten DF, Filston HC et al. The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral mass. Pediatr Radiol 1984; 14: 220-225
    • (1984) Pediatr Radiol , vol.14 , pp. 220-225
    • Kirks, D.R.1    Merten, D.F.2    Filston, H.C.3
  • 3
    • 0022254062 scopus 로고
    • Die Currarino-triade. Ein autosomal-dominant erblicher komplex von anorektaler mißbildung, sakrokokzygealdefekt und präsakralem tumor
    • Holthusen W, Birtel T, Brinkmann B et al. Die Currarino-Triade. Ein autosomal-dominant erblicher Komplex von anorektaler Mißbildung, Sakrokokzygealdefekt und präsakralem Tumor. RÖFO 1985; 143: 83-89
    • (1985) RÖFO , vol.143 , pp. 83-89
    • Holthusen, W.1    Birtel, T.2    Brinkmann, B.3
  • 4
    • 0029761253 scopus 로고    scopus 로고
    • MRI and radiographic findings in Currarino's triad
    • Pfluger T, Czekalla R, Koletzko S et al. MRI and radiographic findings in Currarino's triad. Pediatr Radiol 1996: 26: 524-527
    • (1996) Pediatr Radiol , vol.26 , pp. 524-527
    • Pfluger, T.1    Czekalla, R.2    Koletzko, S.3
  • 5
    • 0032609561 scopus 로고    scopus 로고
    • The spectrum of imaging findings in Currarino triad
    • Riebel T, Mäurer J, Teichgräber UKM et al. The spectrum of imaging findings in Currarino triad. Eur Radiol 1999; 9: 1348-1353
    • (1999) Eur Radiol , vol.9 , pp. 1348-1353
    • Riebel, T.1    Mäurer, J.2    Teichgräber, U.K.M.3
  • 6
    • 0033858967 scopus 로고    scopus 로고
    • Diagnostic steps and staged operative approach in Currarino's triad: A case report and review of the literature
    • Ilhan H, Tokar B, Atasoy MA et al. Diagnostic steps and staged operative approach in Currarino's triad: a case report and review of the literature. Childs Nerv Syst 2000; 16: 522-524
    • (2000) Childs Nerv Syst , vol.16 , pp. 522-524
    • Ilhan, H.1    Tokar, B.2    Atasoy, M.A.3
  • 7
    • 0029115664 scopus 로고
    • A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
    • Lynch SA, Bond PM, Copp AJ et al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 1995; 11: 93-95
    • (1995) Nat Genet , vol.11 , pp. 93-95
    • Lynch, S.A.1    Bond, P.M.2    Copp, A.J.3
  • 8
    • 0030463707 scopus 로고    scopus 로고
    • Multidisciplinary management of caudal regression syndrome (26 cases)
    • Cama A, Palmieri A, Capra V et al. Multidisciplinary management of caudal regression syndrome (26 cases). Eur J Pediatr Surg 1996; 6, Suppl 1: 44-45
    • (1996) Eur J Pediatr Surg , vol.6 , Issue.SUPPL. 1 , pp. 44-45
    • Cama, A.1    Palmieri, A.2    Capra, V.3
  • 9
    • 0033668468 scopus 로고    scopus 로고
    • Currarino triad - Diagnostic dilemma and a combined surgical approach
    • Samuel M, Hosie G, Holmes K. Currarino triad - diagnostic dilemma and a combined surgical approach. J Pediatr Surg 2000; 35 (12): 1790-1794
    • (2000) J Pediatr Surg , vol.35 , Issue.12 , pp. 1790-1794
    • Samuel, M.1    Hosie, G.2    Holmes, K.3
  • 10
    • 0034859565 scopus 로고    scopus 로고
    • Complete familial Currarino triad. Report of three cases in one family
    • Kurosaki M, Kamitani H, Anno Y et al. Complete familial Currarino triad. Report of three cases in one family. J Neurosurg 2001; 94, Suppl. 1: 158-161
    • (2001) J Neurosurg , vol.94 , Issue.SUPPL. 1 , pp. 158-161
    • Kurosaki, M.1    Kamitani, H.2    Anno, Y.3
  • 11
    • 0033926438 scopus 로고    scopus 로고
    • Involvement of the HLXB9 homeobox gene in Currarino syndrome
    • Belloni E, Matucciello G, Verderio D et al. Involvement of the HLXB9 homeobox gene in Currarino syndrome. Am J Hum Genet 2000; 66 (1): 312-319
    • (2000) Am J Hum Genet , vol.66 , Issue.1 , pp. 312-319
    • Belloni, E.1    Matucciello, G.2    Verderio, D.3
  • 12
    • 84973338514 scopus 로고    scopus 로고
    • Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene
    • Hagan DM, Ross AJ, Strachan T et al. Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. Am J Hum Genet 2000; 67 (3): 769
    • (2000) Am J Hum Genet , vol.67 , Issue.3 , pp. 769
    • Hagan, D.M.1    Ross, A.J.2    Strachan, T.3
  • 13
    • 0033852321 scopus 로고    scopus 로고
    • Autosomal dominant sacral agenesis
    • Lynch SA, Wang Y, Strachan T et al. Autosomal dominant sacral agenesis. J Med Genet 2000; 37 (8): 561-566
    • (2000) J Med Genet , vol.37 , Issue.8 , pp. 561-566
    • Lynch, S.A.1    Wang, Y.2    Strachan, T.3
  • 14
    • 17344363829 scopus 로고    scopus 로고
    • A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis
    • Ross AJ, Ruiz-Perez V, Wang Y et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 1998; 20 (4): 358-361
    • (1998) Nat Genet , vol.20 , Issue.4 , pp. 358-361
    • Ross, A.J.1    Ruiz-Perez, V.2    Wang, Y.3
  • 15
    • 0030731948 scopus 로고    scopus 로고
    • The genetics of anorectal malformations: A complex matter
    • Lerone M, Bolino A, Martucciello G. The genetics of anorectal malformations: a complex matter. Semin Pediatr Surg 1997; 6 (4): 170-179
    • (1997) Semin Pediatr Surg , vol.6 , Issue.4 , pp. 170-179
    • Lerone, M.1    Bolino, A.2    Martucciello, G.3
  • 16
    • 0029909850 scopus 로고    scopus 로고
    • Currarino triad with a terminal deletion 7q35->qter
    • Masuno M, Imaizumi K, Aida N et al. Currarino triad with a terminal deletion 7q35->qter. J Med Genet 1996; 33 (10): 887-888
    • (1996) J Med Genet , vol.33 , Issue.10 , pp. 887-888
    • Masuno, M.1    Imaizumi, K.2    Aida, N.3
  • 17
    • 0348108093 scopus 로고    scopus 로고
    • Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2 p
    • Le Caignec C, Winer N, Boceno M et al. Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2 p. Prenat Diagn 2003; 23 (12): 981-984
    • (2003) Prenat Diagn , vol.23 , Issue.12 , pp. 981-984
    • Le Caignec, C.1    Winer, N.2    Boceno, M.3
  • 18
    • 0034886738 scopus 로고    scopus 로고
    • Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome
    • Kochling J, Karbasiyan M, Reis A. Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome. Eur J Hum Genet 2001; 9 (8): 599-605
    • (2001) Eur J Hum Genet , vol.9 , Issue.8 , pp. 599-605
    • Kochling, J.1    Karbasiyan, M.2    Reis, A.3
  • 19
    • 0029115664 scopus 로고
    • A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36
    • Lynch SA, Bond PM, Copp AJ et al. A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36. Nat Genet 1995; 11 (1): 93-95
    • (1995) Nat Genet , vol.11 , Issue.1 , pp. 93-95
    • Lynch, S.A.1    Bond, P.M.2    Copp, A.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.