Die angeborene zystische Dilatation der intrahepatischen Gallenwege wird als Caroli-Syndrom bezeichnet. Ätiologisch kommen neben PKHD1-Mutationen (autosomal dominant) sicher auch andere bisher noch nicht ausreichend charakterisierte Gene in Betracht.
| 1. |
Guay-Woodford LM et al. (1995) The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: implications for genetic counseling.
|
| 2. |
Luthy DA et al. (1985) Infantile polycystic kidney disease: observations from attempts at prenatal diagnosis.
|
| 3. |
Gang DL et al. (1986) Infantile polycystic disease of the liver and kidneys.
|
| 4. |
Adams CM et al. (1974) Comments upon the classification of infantile polycystic diseases of the liver and kidney, based upon three-dimensional reconstruction of the liver.
|
| 5. |
Isdale JM et al. (1973) Infantile polycystic disease of the kidneys.
|
| 6. |
Blyth H et al. (1971) Polycystic disease of kidney and liver presenting in childhood.
|
| 7. |
Turnberg LA et al. (1968) Biliary secretion in a patient with cystic dilation of the intrahepatic biliary tree.
|
| 8. |
Blyth HM et al. (1969) A clinico-pathological and family study of polycystic disease of the kidneys and liver in children.
|
| 9. |
Hunter FM et al. (1966) Congenital dilation of the intrahepatic bile ducts.
|
| 10. |
Mandell J et al. (1983) Congenital polycystic kidney disease. Genetically transmitted infantile polycystic kidney disease in C57BL/6J mice.
|
| 11. |
Schmidt W et al. (1982) Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases.
|
| 12. |
Naveh Y et al. (1980) Congenital hepatic fibrosis with congenital heart disease. A family study with ultrastructural features of the liver.
|
| 13. |
Deget F et al. (1995) Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.
|
| 14. |
Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.
|
| 15. |
Iakoubova OA et al. (1995) Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity.
|
| 16. |
Zerres K et al. (1994) Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.
|
| 17. |
Mücher G et al. (1994) Refining the map and defining flanking markers of the gene for autosomal recessive polycystic kidney disease on chromosome 6p21.1-p12.
|
| 18. |
Simon EA et al. (1994) The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2.
|
| 19. |
Nakamura T et al. (1993) Growth factor gene expression in kidney of murine polycystic kidney disease.
|
| 20. |
Ros E et al. (1993) Ursodeoxycholic acid treatment of primary hepatolithiasis in Caroli's syndrome.
|
| 21. |
Moyer JH et al. (1994) Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.
|
| 22. |
Atala A et al. (1993) Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys.
|
| 23. |
Gattone VH et al. (1996) Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene.
|
| 24. |
Nagao S et al. (1995) Genetic mapping of the polycystic kidney gene, pcy, on mouse chromosome 9.
|
| 25. |
Woo DD et al. (1997) Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice.
|
| 26. |
Richards WG et al. (1998) Epidermal growth factor receptor activity mediates renal cyst formation in polycystic kidney disease.
|
| 27. |
Cowley BD et al. (1987) Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease.
|
| 28. |
Janaswami PM et al. (1997) Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8.
|
| 29. |
Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.
|
| 30. |
Liu S et al. (2002) A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.
|
| 31. |
Zerres K et al. (1984) Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.
|
| 32. |
Gupta GK et al. (2000) Urinary basic fibroblast growth factor: a noninvasive marker of progressive cystic renal disease in a child.
|
| 33. |
None (2002) Another cystic mystery solved.
|
| 34. |
Guay-Woodford LM et al. (2003) Autosomal recessive polycystic kidney disease: the clinical experience in North America.
|
| 35. |
Bosch BM et al. (2003) Autosomal recessive polycystic kidney disease: improvement of renal function.
|
| 36. |
Bergmann C et al. (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
|
| 37. |
Adeva M et al. (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).
|
| 38. |
Zerres K et al. (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.
|
| 39. |
Upadhya P et al. (1999) Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants.
|
| 40. |
Guay-Woodford LM et al. (2000) Germline and somatic loss of function of the mouse cpk gene causes biliary ductal pathology that is genetically modulated.
|
| 41. |
Omran H et al. (2001) Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.
|
| 42. |
CAROLI J et al. (1958) [Congenital polycystic dilation of the intrahepatic bile ducts; attempt at classification].
|
| 43. |
LUNDIN PM et al. (1961) Polycystic kidneys in newborns, infants and children. A clinical and pathological study.
|
| 44. |
Bukanov NO et al. (2006) Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine.
|
| 45. |
Davisson MT et al. (1991) The mouse polycystic kidney disease mutation (cpk) is located on proximal chromosome 12.
|
| 46. |
Martínez-Frías ML et al. (1991) Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes.
|
| 47. |
Kaplan BS et al. (1989) Autosomal recessive polycystic kidney disease.
|
| 48. |
Ramsay M et al. (1988) Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic.
|
| 49. |
Zerres K et al. (1988) Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis.
|
| 50. |
Kaplan BS et al. (1988) Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family.
|
| 51. |
Wirth B et al. (1987) Autosomal recessive and dominant forms of polycystic kidney disease are not allelic.
|
| 52. |
None (1987) Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.
|
| 53. |
OMIM.ORG article Omim 600643
|
| 54. |
Orphanet article Orphanet ID 53035
|
| 55. |
Wikipedia Artikel Wikipedia DE (Caroli-Syndrom)
|