Caroli disease

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.

Luthy DA et al. (1985) Infantile polycystic kidney disease: observations from attempts at prenatal diagnosis.

Gang DL et al. (1986) Infantile polycystic disease of the liver and kidneys.

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.

Isdale JM et al. (1973) Infantile polycystic disease of the kidneys.

Blyth H et al. (1971) Polycystic disease of kidney and liver presenting in childhood.

Turnberg LA et al. (1968) Biliary secretion in a patient with cystic dilation of the intrahepatic biliary tree.

Blyth HM et al. (1969) A clinico-pathological and family study of polycystic disease of the kidneys and liver in children.

Hunter FM et al. (1966) Congenital dilation of the intrahepatic bile ducts.

Mandell J et al. (1983) Congenital polycystic kidney disease. Genetically transmitted infantile polycystic kidney disease in C57BL/6J mice.

Schmidt W et al. (1982) Genetics, pathoanatomy and prenatal diagnosis of Potter I syndrome and other urogenital tract diseases.

Naveh Y et al. (1980) Congenital hepatic fibrosis with congenital heart disease. A family study with ultrastructural features of the liver.

Deget F et al. (1995) Course of autosomal recessive polycystic kidney disease (ARPKD) in siblings: a clinical comparison of 20 sibships.

Ward CJ et al. (2002) The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein.

Iakoubova OA et al. (1995) Localization of a murine recessive polycystic kidney disease mutation and modifying loci that affect disease severity.

Zerres K et al. (1994) Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.

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.

Simon EA et al. (1994) The mouse congenital polycystic kidney (cpk) locus maps within 1.3 cM of the chromosome 12 marker D12Nyu2.

Nakamura T et al. (1993) Growth factor gene expression in kidney of murine polycystic kidney disease.

Ros E et al. (1993) Ursodeoxycholic acid treatment of primary hepatolithiasis in Caroli's syndrome.

Moyer JH et al. (1994) Candidate gene associated with a mutation causing recessive polycystic kidney disease in mice.

Atala A et al. (1993) Juvenile cystic kidneys (jck): a new mouse mutation which causes polycystic kidneys.

Gattone VH et al. (1996) Murine autosomal recessive polycystic kidney disease with multiorgan involvement induced by the cpk gene.

Nagao S et al. (1995) Genetic mapping of the polycystic kidney gene, pcy, on mouse chromosome 9.

Woo DD et al. (1997) Genetic identification of two major modifier loci of polycystic kidney disease progression in pcy mice.

Richards WG et al. (1998) Epidermal growth factor receptor activity mediates renal cyst formation in polycystic kidney disease.

Cowley BD et al. (1987) Elevated c-myc protooncogene expression in autosomal recessive polycystic kidney disease.

Janaswami PM et al. (1997) Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8.

Boichis H et al. (1973) Congenital hepatic fibrosis and nephronophthisis. A family study.

Liu S et al. (2002) A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.

Zerres K et al. (1984) Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Gupta GK et al. (2000) Urinary basic fibroblast growth factor: a noninvasive marker of progressive cystic renal disease in a child.

None (2002) Another cystic mystery solved.

Guay-Woodford LM et al. (2003) Autosomal recessive polycystic kidney disease: the clinical experience in North America.

Bosch BM et al. (2003) Autosomal recessive polycystic kidney disease: improvement of renal function.

Bergmann C et al. (2005) Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).

Adeva M et al. (2006) Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

Zerres K et al. (1998) Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.

Upadhya P et al. (1999) Genetic modifiers of polycystic kidney disease in intersubspecific KAT2J mutants.

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.

Omran H et al. (2001) Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice.

CAROLI J et al. (1958) [Congenital polycystic dilation of the intrahepatic bile ducts; attempt at classification].

LUNDIN PM et al. (1961) Polycystic kidneys in newborns, infants and children. A clinical and pathological study.

Bukanov NO et al. (2006) Long-lasting arrest of murine polycystic kidney disease with CDK inhibitor roscovitine.

Davisson MT et al. (1991) The mouse polycystic kidney disease mutation (cpk) is located on proximal chromosome 12.

Martínez-Frías ML et al. (1991) Epidemiological aspects of Mendelian syndromes in a Spanish population sample: II. Autosomal recessive malformation syndromes.

Kaplan BS et al. (1989) Autosomal recessive polycystic kidney disease.

Ramsay M et al. (1988) Mutations for the autosomal recessive and autosomal dominant forms of polycystic kidney disease are not allelic.

Zerres K et al. (1988) Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis.

Kaplan BS et al. (1988) Variable expression of autosomal recessive polycystic kidney disease and congenital hepatic fibrosis within a family.

Wirth B et al. (1987) Autosomal recessive and dominant forms of polycystic kidney disease are not allelic.

None (1987) Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.

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