Published in Am J Med Genet C Semin Med Genet on November 15, 2009
Clinical and Molecular Investigations Into Ciliopathies | NCT00068224
Characteristics of congenital hepatic fibrosis in a large cohort of patients with autosomal recessive polycystic kidney disease. Gastroenterology (2012) 2.33
Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am J Hum Genet (2011) 1.40
Polycystic liver disease: an overview of pathogenesis, clinical manifestations and management. Orphanet J Rare Dis (2014) 1.35
Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins. Cilia (2012) 1.27
Correlation of kidney function, volume and imaging findings, and PKHD1 mutations in 73 patients with autosomal recessive polycystic kidney disease. Clin J Am Soc Nephrol (2010) 1.16
Spectrum of clinical diseases caused by disorders of primary cilia. Proc Am Thorac Soc (2011) 1.15
Ciliopathies: the central role of cilia in a spectrum of pediatric disorders. J Pediatr (2011) 1.03
Diagnosis and management of childhood polycystic kidney disease. Pediatr Nephrol (2010) 0.99
Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis. J Hepatol (2016) 0.96
The spectrum of polycystic kidney disease in children. Adv Chronic Kidney Dis (2011) 0.96
Hepatic-associated immunoglobulin-A nephropathy in a child with liver cirrhosis and portal hypertension. Saudi J Gastroenterol (2012) 0.95
Loss of cilia causes embryonic lung hypoplasia, liver fibrosis, and cholestasis in the talpid3 ciliopathy mutant. Organogenesis (2014) 0.93
Molecular mechanisms of bile duct development. Int J Biochem Cell Biol (2010) 0.92
The primary cilium in different tissues-lessons from patients and animal models. Pediatr Nephrol (2010) 0.91
Nephronophthisis and related syndromes. Curr Opin Pediatr (2015) 0.89
An experimental and computational analysis of primary cilia deflection under fluid flow. Comput Methods Biomech Biomed Engin (2012) 0.88
Polycystic liver diseases: advanced insights into the molecular mechanisms. Nat Rev Gastroenterol Hepatol (2014) 0.87
Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney. Pediatr Nephrol (2015) 0.84
Fibrocystic disease of liver and pancreas; under-recognized features of the X-linked ciliopathy oral-facial-digital syndrome type 1 (OFD I). Am J Med Genet A (2010) 0.84
MALDI imaging MS reveals candidate lipid markers of polycystic kidney disease. J Lipid Res (2013) 0.83
MicroRNAs in Cholangiopathies. Curr Pathobiol Rep (2014) 0.80
Renal cystic diseases in children: new concepts. Pediatr Radiol (2010) 0.80
MicroRNAs and benign biliary tract diseases. Semin Liver Dis (2015) 0.78
Identifying Novel Targets for Treatment of Liver Fibrosis: What Can We Learn from Injured Tissues which Heal Without a Scar? Curr Drug Targets (2015) 0.77
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med (2017) 0.77
Cystic kidney diseases: many ways to form a cyst. Pediatr Nephrol (2012) 0.76
Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic Diseases. Front Pediatr (2017) 0.75
Caroli's syndrome in a post renal transplant patient: case report and review of the literature. Saudi J Gastroenterol (2012) 0.75
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency. Hum Genet (2017) 0.75
Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. PLoS One (2014) 0.75
Differential effects of hyaluronan synthase 3 deficiency after acute vs chronic liver injury in mice. Fibrogenesis Tissue Repair (2016) 0.75
Case study: polycystic livers in a transgenic mouse line. Comp Med (2014) 0.75
Virtual-tissue computer simulations define the roles of cell adhesion and proliferation in the onset of kidney cystic disease. Mol Biol Cell (2016) 0.75
Pregnancy in autosomal recessive polycystic kidney disease. Arch Gynecol Obstet (2014) 0.75
Thrombocytopenia and splenomegaly: an unusual presentation of congenital hepatic fibrosis. Orphanet J Rare Dis (2010) 0.75
A Family of Congenital Hepatic Fibrosis and Atypical Retinitis Pigmentosa. Clin Pract (2015) 0.75
Hepatorenal fibrocystic diseases in children. Pediatr Nephrol (2015) 0.75
When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol (2007) 8.28
PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science (1996) 6.56
Polycystic kidney disease. N Engl J Med (2004) 5.73
The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains. Nat Genet (1995) 4.99
Polycystic kidney disease. Annu Rev Med (2009) 4.78
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet (2002) 4.54
Mutation in hepatocyte nuclear factor-1 beta gene (TCF2) associated with MODY. Nat Genet (1997) 4.19
Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis. Nat Genet (2003) 4.14
Nephronophthisis-associated ciliopathies. J Am Soc Nephrol (2007) 3.40
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet (1999) 3.32
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet (2002) 3.21
Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics (2003) 2.89
Congenital hepatic fibrosis. Q J Med (1961) 2.83
Volume progression in autosomal dominant polycystic kidney disease: the major factor determining clinical outcomes. Clin J Am Soc Nephrol (2005) 2.66
Nephronophthisis: disease mechanisms of a ciliopathy. J Am Soc Nephrol (2008) 2.66
Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation". Hepatology (1992) 2.59
Cholangiocyte cilia detect changes in luminal fluid flow and transmit them into intracellular Ca2+ and cAMP signaling. Gastroenterology (2006) 2.43
Magnetic resonance imaging evaluation of hepatic cysts in early autosomal-dominant polycystic kidney disease: the Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease cohort. Clin J Am Soc Nephrol (2005) 2.37
The spectrum of renal disease in Laurence-Moon-Biedl syndrome. N Engl J Med (1988) 2.36
PATHOGENESIS OF POLYCYSTIC KIDNEYS. HISTORICAL SURVEY. Arch Pathol (1964) 2.33
Joubert syndrome (and related disorders) (OMIM 213300). Eur J Hum Genet (2007) 2.32
Renal cystic diseases: a review. Adv Anat Pathol (2006) 2.27
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. Am J Med Genet (1999) 2.24
Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly". Am J Med Genet (1981) 2.24
Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol (2009) 2.09
Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nat Genet (2004) 1.96
Ludwig symposium on biliary disorders--part I. Pathogenesis of ductal plate abnormalities. Mayo Clin Proc (1998) 1.92
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology. Am J Med Genet (1998) 1.85
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J Med Genet (2009) 1.82
The hepatic fibrocystic diseases. Clin Liver Dis (2006) 1.78
Germline mutations in PRKCSH are associated with autosomal dominant polycystic liver disease. Nat Genet (2003) 1.77
Advances in the pathogenesis and treatment of polycystic kidney disease. Curr Opin Nephrol Hypertens (2009) 1.73
Mutations in the hepatocyte nuclear factor-1beta gene are associated with familial hypoplastic glomerulocystic kidney disease. Am J Hum Genet (2000) 1.64
The renal lesion of the Laurence-Moon-Biedl syndrome. J Pediatr (1975) 1.61
The position of the polycystic kidney disease 1 (PKD1) gene mutation correlates with the severity of renal disease. J Am Soc Nephrol (2002) 1.60
Genotype-phenotype correlations in autosomal dominant and autosomal recessive polycystic kidney disease. J Am Soc Nephrol (2007) 1.60
Hepatobiliary fibropolycystic diseases. A clinical and histological review of 51 patients. J Hepatol (1986) 1.55
Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis. Hum Genet (1984) 1.51
Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet (2009) 1.50
Autosomal recessive polycystic kidney disease in 115 children: clinical presentation, course and influence of gender. Arbeitsgemeinschaft für Pädiatrische, Nephrologie. Acta Paediatr (1996) 1.49
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease. Am J Hum Genet (2003) 1.47
Association of mutation position in polycystic kidney disease 1 (PKD1) gene and development of a vascular phenotype. Lancet (2003) 1.47
Clinical, molecular, and genotype-phenotype correlation studies from 25 cases of oral-facial-digital syndrome type 1: a French and Belgian collaborative study. J Med Genet (2006) 1.42
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat (2004) 1.40
New advances in evaluation and management of patients with polycystic liver disease. Am J Gastroenterol (2005) 1.40
Congenital hepatic fibrosis and nephronophthisis. A family study. Q J Med (1973) 1.36
Molecular and cellular pathophysiology of autosomal recessive polycystic kidney disease (ARPKD). Cell Tissue Res (2006) 1.36
Caroli's syndrome and adult polycystic kidney disease. ANZ J Surg (2007) 1.31
The importance of renal impairment in the natural history of Bardet-Biedl syndrome. Am J Kidney Dis (1996) 1.30
Autosomal recessive polycystic kidney disease: long-term outcome of neonatal survivors. Pediatr Nephrol (1997) 1.30
Cholangiocyte primary cilia in liver health and disease. Dev Dyn (2008) 1.29
What is congenital hepatic fibrosis? Histopathology (1992) 1.29
Oral-facial-digital syndromes: review and diagnostic guidelines. Am J Med Genet A (2007) 1.29
Polycystic liver disease is a disorder of cotranslational protein processing. Trends Mol Med (2005) 1.28
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr (2006) 1.26
Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study. Ultrasound Obstet Gynecol (2004) 1.25
Diseases of the intrahepatic biliary tree. Clin Gastroenterol (1973) 1.24
Congenital hepatic fibrosis in children. J Pediatr (1981) 1.24
Association of carcinoma with congenital cystic conditions of the liver and bile ducts. Am J Gastroenterol (1977) 1.20
A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney Int (2003) 1.19
Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes. J Med Genet (2003) 1.17
Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease. Nephrol Dial Transplant (2005) 1.16
Autosomal recessive polycystic kidney disease: outcomes from a single-center experience. Pediatr Nephrol (2003) 1.13
Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients. Hum Mutat (2008) 1.13
Polycystic liver and kidney diseases. Ann Med (2005) 1.12
Autosomal recessive polycystic kidney disease in adulthood. Nephrol Dial Transplant (2001) 1.11
Extensive mutational analysis of PRKCSH and SEC63 broadens the spectrum of polycystic liver disease. Hum Mutat (2006) 1.10
Congenital hepatic fibrosis: the long-term prognosis. Gut (1978) 1.10
Renal-hepatic-pancreatic dysplasia: a syndrome reconsidered. Am J Med Genet (1987) 1.06
Predominant extrahepatic biliary disease in autosomal recessive polycystic kidney disease: a new association. Pediatr Transplant (2006) 1.02
The ductal plate malformation. Acta Pathol Microbiol Scand Suppl (1977) 1.01
Polycystic liver disease is genetically heterogeneous: clinical and linkage studies in eight Finnish families. J Hepatol (2003) 1.00
MKS3-related ciliopathy with features of autosomal recessive polycystic kidney disease, nephronophthisis, and Joubert Syndrome. J Pediatr (2009) 1.00
Ciliar functions in the nephron. Pflugers Arch (2009) 0.99
Imaging findings in congenital hepatic fibrosis. Eur J Radiol (2006) 0.99
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD). Hum Mutat (2005) 0.98
Management of polycystic liver disease. Curr Gastroenterol Rep (2005) 0.97
Autosomal dominant polycystic kidney disease types 1 and 2: assessment of US sensitivity for diagnosis. Radiology (1999) 0.96
Diseases of intrahepatic bile ducts. Isr J Med Sci (1968) 0.96
Renal cystic disease: new insights for the clinician. Pediatr Clin North Am (2006) 0.95
Joubert syndrome associated with multicystic kidney disease and hepatic fibrosis. Pediatr Nephrol (1997) 0.93
Joubert syndrome with congenital hepatic fibrosis: an entity in the spectrum of oculo-encephalo-hepato-renal disorders. Am J Med Genet (1994) 0.93
Intrahepatic cholangiocarcinoma arising in congenital hepatic fibrosis: report of an autopsy case. J Hepatol (1998) 0.92
Renal lesion in Jeune's syndrome. Br J Radiol (1980) 0.92
Laurence-Moon-Biedl syndrome accompanied by congenital hepatic fibrosis. J Gastroenterol Hepatol (1991) 0.90
Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins. Q J Med (1978) 0.84
A family with Jeune syndrome. Pediatr Nephrol (2001) 0.84
Jeune syndrome and liver disease: report of three cases treated with ursodeoxycholic acid. Am J Med Genet (1999) 0.83
Hepatic manifestations of Jeune syndrome (asphyxiating thoracic dystrophy). Semin Liver Dis (2003) 0.83
Autosomal dominant polycystic kidney disease: a two-hit model. Hosp Pract (1995) (1997) 0.82
Renal involvement in the Laurence-Moon-Biedl syndrome. Functional and radiological studies. Acta Paediatr Scand (1986) 0.82
Hepatic involvement in the Bardet-Biedl syndrome. Am J Med Genet (1982) 0.82
Early cirrhosis in survivors with Jeune thoracic dystrophy. J Pediatr (1992) 0.80
Polycystic liver disease: multimodality imaging for complications and transplant evaluation. Radiographics (2006) 0.80
Successful combined liver and kidney transplant for COACH syndrome and 5-yr follow-up. Clin Transplant (2005) 0.79
Postnatal investigation of fetal renal disease. Semin Fetal Neonatal Med (2008) 0.79
Renal-hepatic-pancreatic dysplasia: an autosomal recessive malformation. J Med Genet (1996) 0.79
Renal-hepatic-pancreatic dysplasia: a broad entity. Am J Med Genet (2000) 0.76