Currarino-Syndrom: Variabilität der bildgebenden Befunde bei 22 molekulargenetisch identifizierten (HLXB9-Mutation) Patienten aus fünf Familien

Ziel: Methode: Ergebnisse: Schlussfolgerungen: Purpose: Methods: Results: Conclusion:

[1]  N. Winer,et al.  Prenatal diagnosis of sacrococcygeal teratoma with constitutional partial monosomy 7q/trisomy 2p , 2003, Prenatal diagnosis.

[2]  J. Köchling,et al.  Spectrum of mutations and genotype–phenotype analysis in Currarino syndrome , 2001, European Journal of Human Genetics.

[3]  K. Holmes,et al.  Currarino triad--diagnostic dilemma and a combined surgical approach. , 2000, Journal of pediatric surgery.

[4]  H. Ilhan,et al.  Diagnostic steps and staged operative approach in Currarino’s triad: a case report and review of the literature , 2000, Child's Nervous System.

[5]  P. Scambler,et al.  Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene. , 2000, American journal of human genetics.

[6]  S. Scherer,et al.  A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis , 1998, Nature Genetics.

[7]  A. Bolino,et al.  The genetics of anorectal malformations: a complex matter. , 1997, Seminars in pediatric surgery.

[8]  V. Capra,et al.  Multidisciplinary management of caudal regression syndrome (26 cases). , 1996, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.

[9]  M. Masuno,et al.  Currarino triad with a terminal deletion 7q35-->qter. , 1996, Journal of medical genetics.

[10]  E. Mariman,et al.  A gene for autosomal dominant sacral agenesis maps to the holoprosencephaly region at 7q36 , 1995, Nature Genetics.

[11]  J. Gunkel,et al.  Die Currarino-Triade: Ein autosomal-dominant erblicher Komplex von anorektaler Mißbildung, Sakrokokzygealdefekt und präsakralem Tumor , 1985 .

[12]  D. Coln,et al.  Triad of anorectal, sacral, and presacral anomalies. , 1981, AJR. American journal of roentgenology.

[13]  K. Hahn,et al.  MRI and radiographic findings in Currarino's triad , 2005, Pediatric Radiology.

[14]  W. J. Oakes,et al.  The Currarino triad: complex of anorectal malformation, sacral bony abnormality, and presacral mass , 2004, Pediatric Radiology.

[15]  T. Watanabe,et al.  Complete familial Currarino triad. Report of three cases in one family. , 2001, Journal of neurosurgery.

[16]  M. Ta,et al.  Report of three cases in one family , 2001 .

[17]  S. Scherer,et al.  Involvement of the HLXB9 homeobox gene in Currarino syndrome. , 2000, American journal of human genetics.